{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T13:20:53Z","timestamp":1778160053294,"version":"3.51.4"},"reference-count":88,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T00:00:00Z","timestamp":1774656000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T00:00:00Z","timestamp":1778112000000},"content-version":"vor","delay-in-days":40,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"UCLA CTSI-Iris Cantor Women Center Young Investigator Award"},{"name":"the Stotter Revocable Trust"},{"name":"NEI core grant","award":["P30EY000331"],"award-info":[{"award-number":["P30EY000331"]}]},{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"publisher","award":["Unrestricted Grant"],"award-info":[{"award-number":["Unrestricted Grant"]}],"id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Biol Sex Differ"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Sex differences have been described in several corneal diseases such as Fuchs endothelial corneal dystrophy and keratoconus, with estrogens implicated in the induction of these differences. Here, we report the identification of sex differences in a cohort of 177 individuals with Corneal Hereditary Endothelial Dystrophy (CHED), a rare corneal endothelial dystrophy associated with biallelic\n                      <jats:italic>SLC4A11<\/jats:italic>\n                      gene mutations, and in a\n                      <jats:italic>Slc4a11<\/jats:italic>\n                      <jats:sup>\u2212\/\u2212<\/jats:sup>\n                      mouse model of CHED.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Central corneal thickness (CCT) was measured in individuals with CHED and in\n                      <jats:italic>Slc4a11<\/jats:italic>\n                      <jats:sup>\u2212\/\u2212<\/jats:sup>\n                      and\n                      <jats:italic>Slc4a11<\/jats:italic>\n                      <jats:sup>+\/+<\/jats:sup>\n                      mice to identify a correlation between sex and the degree of corneal edema. To investigate potential causes of such a correlation, RNAseq analysis and mitochondrial superoxide measurement were performed on corneal endothelium from male and female\n                      <jats:italic>Slc4a11<\/jats:italic>\n                      <jats:sup>\u2212\/\u2212<\/jats:sup>\n                      and\n                      <jats:italic>Slc4a11<\/jats:italic>\n                      <jats:sup>+\/+<\/jats:sup>\n                      mice, for which body composition analysis was also performed. Gonadectomy or sham surgery was performed in\n                      <jats:italic>Slc4a11<\/jats:italic>\n                      <jats:sup>\u2212\/\u2212<\/jats:sup>\n                      and\n                      <jats:italic>Slc4a11<\/jats:italic>\n                      <jats:sup>+\/+<\/jats:sup>\n                      mice at 4 weeks of age with subsequent longitudinal CCT and body weight monitoring, followed by an analysis of the interaction effect of surgery type, sex and genotype on CCT.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Male sex is associated with increased CCT, and thus more severe corneal edema, the characteristic clinical feature of CHED, in affected individuals and\n                      <jats:italic>Slc4a11<\/jats:italic>\n                      <jats:sup>\u2212\/\u2212<\/jats:sup>\n                      mice. The corneal endothelium in male\n                      <jats:italic>Slc4a11<\/jats:italic>\n                      <jats:sup>\u2212\/\u2212<\/jats:sup>\n                      mice demonstrates increased levels of oxidative stress compared to\n                      <jats:italic>Slc4a11<\/jats:italic>\n                      <jats:sup>\u2212\/\u2212<\/jats:sup>\n                      female mice, as evidenced by higher levels of glucose- and glutamine-derived mitochondrial superoxide, controlling for age. Removal of gonadal hormones in\n                      <jats:italic>Slc4a11<\/jats:italic>\n                      <jats:sup>\u2212\/\u2212<\/jats:sup>\n                      mice increases corneal edema in female mice, suggesting a protective role for ovarian hormones. Transcriptomic analysis of corneal endothelium and body composition analysis in\n                      <jats:italic>Slc4a11<\/jats:italic>\n                      <jats:sup>+\/+<\/jats:sup>\n                      and\n                      <jats:italic>Slc4a11<\/jats:italic>\n                      <jats:sup>\u2212\/\u2212<\/jats:sup>\n                      mice suggest that estrogens play a role in promoting corneal endothelial utilization of lipids via \u03b2-oxidation as an alternative energy source in the absence of SLC4A11-mediated NH\n                      <jats:sub>3<\/jats:sub>\n                      :H transport function, thereby reducing oxidative stress from glucose and glutamine metabolism.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Male sex is associated with a more severe corneal phenotype in individuals with CHED and a\n                      <jats:italic>Slc4a11<\/jats:italic>\n                      <jats:sup>\n                        <jats:italic>\u2212\/\u2212<\/jats:italic>\n                      <\/jats:sup>\n                      mouse model of the disease. Increased corneal edema in female\n                      <jats:italic>Slc4a11<\/jats:italic>\n                      <jats:sup>\n                        <jats:italic>\u2212\/\u2212<\/jats:italic>\n                      <\/jats:sup>\n                      mice following gonadectomy suggests ovarian hormones play a protective role in maintaining corneal deturgescence in the setting of loss of SLC4A11 function.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13293-026-00879-9","type":"journal-article","created":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T02:39:07Z","timestamp":1774665547000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Sex differences in congenital hereditary endothelial dystrophy (CHED) and Slc4a11\u2212\/\u2212 mouse model of CHED"],"prefix":"10.1186","volume":"17","author":[{"given":"Wenlin","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Divya Sree","family":"Ramya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduardo","family":"Araujo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jhuwala","family":"Venkatakrishnan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saloni","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isa","family":"Matsubayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Morselli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ananya","family":"Kaginalkar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunita","family":"Chaurasia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matteo","family":"Pellegrini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Radhika","family":"Tandon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muralidhar","family":"Ramappa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arthur","family":"Arnold","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony J.","family":"Aldave","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,3,28]]},"reference":[{"key":"879_CR1","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1002\/(SICI)1096-8628(19980217)75:5<497::AID-AJMG8>3.0.CO;2-K","volume":"75","author":"E Bermejo","year":"1998","unstructured":"Bermejo E, Mart\u00ednez-Fr\u00edas ML. Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet. 1998;75:5.","journal-title":"Am J Med Genet"},{"key":"879_CR2","doi-asserted-by":"publisher","first-page":"888","DOI":"10.1038\/s41587-023-01871-z","volume":"41","author":"Eight diseases for gene therapy accelerator","year":"2023","unstructured":"Eight diseases for gene therapy accelerator. Nat Biotechnol. 2023;41:888. https:\/\/doi.org\/10.1038\/s41587-023-01871-z.","journal-title":"Nat Biotechnol"},{"issue":"1","key":"879_CR3","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1136\/jmg.2006.044644","volume":"44","author":"X Jiao","year":"2007","unstructured":"Jiao X, Sultana A, Garg P, Ramamurthy B, Vemuganti GK, Gangopadhyay N, et al. Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. J Med Genet. 2007;44(1):64\u20138. https:\/\/doi.org\/10.1136\/jmg.2006.044644.","journal-title":"J Med Genet"},{"issue":"5","key":"879_CR4","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1093\/hmg\/ddm337","volume":"17","author":"EN Vithana","year":"2008","unstructured":"Vithana EN, Morgan PE, Ramprasad V, Tan DT, Yong VH, Venkataraman D, et al. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum Mol Genet. 2008;17(5):656\u201366. https:\/\/doi.org\/10.1093\/hmg\/ddm337.","journal-title":"Hum Mol Genet"},{"issue":"9","key":"879_CR5","doi-asserted-by":"publisher","first-page":"6179","DOI":"10.1167\/iovs.13-12089","volume":"54","author":"SB Han","year":"2013","unstructured":"Han SB, Ang HP, Poh R, Chaurasia SS, Peh G, Liu J, et al. Mice with a targeted disruption of Slc4a11 model the progressive corneal changes of congenital hereditary endothelial dystrophy. Invest Ophthalmol Vis Sci. 2013;54(9):6179\u201389. https:\/\/doi.org\/10.1167\/iovs.13-12089.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"12","key":"879_CR6","doi-asserted-by":"publisher","first-page":"7821","DOI":"10.1167\/iovs.14-15021","volume":"55","author":"RF Frausto","year":"2014","unstructured":"Frausto RF, Wang C, Aldave AJ. Transcriptome analysis of the human corneal endothelium. Invest Ophthalmol Vis Sci. 2014;55(12):7821\u201330. https:\/\/doi.org\/10.1167\/iovs.14-15021.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"7","key":"879_CR7","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0067546","volume":"8","author":"Z Chng","year":"2013","unstructured":"Chng Z, Peh GS, Herath WB, Cheng TY, Ang HP, Toh KP, et al. High throughput gene expression analysis identifies reliable expression markers of human corneal endothelial cells. PLoS One. 2013;8(7):e67546. https:\/\/doi.org\/10.1371\/journal.pone.0067546.","journal-title":"PLoS One"},{"issue":"7","key":"879_CR8","doi-asserted-by":"publisher","first-page":"1271","DOI":"10.1093\/hmg\/dds527","volume":"22","author":"Y Chen","year":"2012","unstructured":"Chen Y, Huang K, Nakatsu MN, Xue Z, Deng SX, Fan G. Identification of novel molecular markers through transcriptomic analysis in human fetal and adult corneal endothelial cells. Hum Mol Genet. 2012;22(7):1271\u20139. https:\/\/doi.org\/10.1093\/hmg\/dds527.","journal-title":"Hum Mol Genet"},{"issue":"1","key":"879_CR9","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-03654-4","volume":"7","author":"S Guha","year":"2017","unstructured":"Guha S, Chaurasia S, Ramachandran C, Roy S. SLC4A11 depletion impairs NRF2 mediated antioxidant signaling and increases reactive oxygen species in human corneal endothelial cells during oxidative stress. Sci Rep. 2017;7(1):4074. https:\/\/doi.org\/10.1038\/s41598-017-03654-4.","journal-title":"Sci Rep"},{"issue":"7","key":"879_CR10","doi-asserted-by":"publisher","first-page":"3270","DOI":"10.1167\/iovs.11-8724","volume":"53","author":"J Liu","year":"2012","unstructured":"Liu J, Seet LF, Koh LW, Venkatraman A, Venkataraman D, Mohan RR, et al. Depletion of SLC4A11 causes cell death by apoptosis in an immortalized human corneal endothelial cell line. Invest Ophthalmol Vis Sci. 2012;53(7):3270\u20139. https:\/\/doi.org\/10.1167\/iovs.11-8724.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"879_CR11","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1016\/j.ebiom.2017.01.004","volume":"16","author":"W Zhang","year":"2017","unstructured":"Zhang W, Li H, Ogando DG, Li S, Feng M, Price FW Jr., et al. Glutaminolysis is essential for energy production and ion transport in human corneal endothelium. EBioMedicine. 2017;16:292\u2013301. https:\/\/doi.org\/10.1016\/j.ebiom.2017.01.004.","journal-title":"EBioMedicine"},{"issue":"9","key":"879_CR12","doi-asserted-by":"publisher","first-page":"3723","DOI":"10.1167\/iovs.17-21781","volume":"58","author":"W Zhang","year":"2017","unstructured":"Zhang W, Ogando DG, Kim ET, Choi MJ, Li H, Tenessen JM, et al. Conditionally immortal Slc4a11-\/- mouse corneal endothelial cell line recapitulates disrupted glutaminolysis seen in Slc4a11-\/- mouse model. Invest Ophthalmol Vis Sci. 2017;58(9):3723\u201331. https:\/\/doi.org\/10.1167\/iovs.17-21781.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"879_CR13","doi-asserted-by":"publisher","DOI":"10.1016\/j.redox.2019.101260","volume":"26","author":"DG Ogando","year":"2019","unstructured":"Ogando DG, Choi M, Shyam R, Li S, Bonanno JA. Ammonia sensitive SLC4A11 mitochondrial uncoupling reduces glutamine induced oxidative stress. Redox Biol. 2019;26:101260. https:\/\/doi.org\/10.1016\/j.redox.2019.101260.","journal-title":"Redox Biol"},{"issue":"3","key":"879_CR14","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1034\/j.1600-0420.1998.760312.x","volume":"76","author":"N Ehlers","year":"1998","unstructured":"Ehlers N, Modis L, Moller-Pedersen T. A morphological and functional study of Congenital Hereditary Endothelial Dystrophy. Acta Ophthalmol Scand. 1998;76(3):314\u20138. https:\/\/doi.org\/10.1034\/j.1600-0420.1998.760312.x.","journal-title":"Acta Ophthalmol Scand"},{"issue":"8","key":"879_CR15","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.61.8.39","volume":"61","author":"W Zhang","year":"2020","unstructured":"Zhang W, Frausto R, Chung DD, Griffis CG, Kao L, Chen A, et al. Energy shortage in human and mouse models of SLC4A11-associated corneal endothelial dystrophies. Invest Ophthalmol Vis Sci. 2020;61(8):39. https:\/\/doi.org\/10.1167\/iovs.61.8.39.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"879_CR16","doi-asserted-by":"publisher","first-page":"728","DOI":"10.1167\/iovs.62.7.28","volume":"62","author":"DG Ogando","year":"2021","unstructured":"Ogando DG, Shyam R, Kim ET, Wang YC, Liu CY, Bonanno JA. Inducible Slc4a11 Knockout Triggers Corneal Edema Through Perturbation of Corneal Endothelial Pump. Invest Ophthalmol Vis Sci. 2021;62:728. https:\/\/doi.org\/10.1167\/iovs.62.7.28.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"5","key":"879_CR17","doi-asserted-by":"publisher","first-page":"C735","DOI":"10.1152\/ajpcell.00078.2016","volume":"311","author":"SK Loganathan","year":"2016","unstructured":"Loganathan SK, Schneider HP, Morgan PE, Deitmer JW, Casey JR. Functional assessment of SLC4A11, an integral membrane protein mutated in corneal dystrophies. Am J Physiol Cell Physiol. 2016;311(5):C735\u201348. https:\/\/doi.org\/10.1152\/ajpcell.00078.2016.","journal-title":"Am J Physiol Cell Physiol"},{"key":"879_CR18","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1016\/j.exer.2018.12.003","volume":"180","author":"S Li","year":"2019","unstructured":"Li S, Hundal KS, Chen X, Choi M, Ogando DG, Obukhov AG, et al. R125H, W240S, C386R, and V507I SLC4A11 mutations associated with corneal endothelial dystrophy affect the transporter function but not trafficking in PS120 cells. Exp Eye Res. 2019;180:86\u201391. https:\/\/doi.org\/10.1016\/j.exer.2018.12.003.","journal-title":"Exp Eye Res"},{"key":"879_CR19","doi-asserted-by":"publisher","first-page":"107782","DOI":"10.1016\/j.exer.2019.107782","volume":"188","author":"S Hara","year":"2019","unstructured":"Hara S, Tsujikawa M, Kawasaki S, Nishida K. Homeostasis of SLC4A11 protein is mediated by endoplasmic reticulum-associated degradation. Exp Eye Res. 2019;188:107782. https:\/\/doi.org\/10.1016\/j.exer.2019.107782.","journal-title":"Exp Eye Res"},{"key":"879_CR20","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1167\/iovs.19-26930","volume":"60","author":"K Brejchova","year":"2019","unstructured":"Brejchova K, Dudakova L, Skalicka P, Dobrovolny R, Masek P, Putzova M, et al. IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing. Investig Ophthalmol Vis Sci. 2019;60:8. https:\/\/doi.org\/10.1167\/iovs.19-26930.","journal-title":"Investig Ophthalmol Vis Sci"},{"key":"879_CR21","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1097\/00003226-199501000-00004","volume":"14","author":"H Sajjadi","year":"1995","unstructured":"Sajjadi H, Javadi MA, Hemmati R, Mirdeghan A, Parvin M, Nassiri N. Results of penetrating keratoplasty in CHED. Congenital hereditary endothelial dystrophy. Cornea. 1995;14:1:18\u201325. https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/7712731.","journal-title":"Cornea"},{"issue":"12","key":"879_CR22","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1167\/iovs.62.12.15","volume":"62","author":"R Shyam","year":"2021","unstructured":"Shyam R, Ogando DG, Choi M, Liton PB, Bonanno JA. Mitochondrial ROS Induced Lysosomal Dysfunction and Autophagy Impairment in an Animal Model of Congenital Hereditary Endothelial Dystrophy. Investig Ophthalmol Vis Sci. 2021;62(12):15. https:\/\/doi.org\/10.1167\/iovs.62.12.15.","journal-title":"Investig Ophthalmol Vis Sci"},{"key":"879_CR23","first-page":"849","volume-title":"Corneal endothelial dystrophies. Cornea: Scientific Foundations and Clinical Practice","author":"P Yeh","year":"2005","unstructured":"Yeh P, Colby K. Corneal endothelial dystrophies. Cornea: Scientific Foundations and Clinical Practice. 4th ed. Philadelphia: Lippincott Williams and Wilkins; 2005. pp. 849\u201373.","edition":"4"},{"issue":"1","key":"879_CR24","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1097\/00003226-198801000-00002","volume":"7","author":"SE Wilson","year":"1988","unstructured":"Wilson SE, Bourne WM. Fuchs\u2019 dystrophy. Cornea. 1988;7(1):2\u201318.","journal-title":"Cornea"},{"key":"879_CR25","first-page":"8","volume":"54","author":"X Zhang","year":"2013","unstructured":"Zhang X, Igo RP, Fondran J, Mootha VV, Oliva M, Hammersmith K, et al. Association of smoking and other risk factors with Fuchs\u2019 endothelial corneal dystrophy severity and corneal thickness. Investig Ophthalmol Vis Sci. 2013;54:8.","journal-title":"Investig Ophthalmol Vis Sci"},{"issue":"1","key":"879_CR26","doi-asserted-by":"publisher","first-page":"573","DOI":"10.1073\/pnas.1912546116","volume":"117","author":"C Liu","year":"2020","unstructured":"Liu C, Miyajima T, Melangath G, Miyai T, Vasanth S, Deshpande N, et al. Ultraviolet A light induces DNA damage and estrogen-DNA adducts in Fuchs endothelial corneal dystrophy causing females to be more affected. Proc Natl Acad Sci. 2020;117(1):573\u201383. https:\/\/doi.org\/10.1073\/pnas.1912546116.","journal-title":"Proc Natl Acad Sci"},{"key":"879_CR27","doi-asserted-by":"publisher","first-page":"102986","DOI":"10.1016\/j.redox.2023.102986","volume":"69","author":"V Kumar","year":"2024","unstructured":"Kumar V, Deshpande N, Parekh M, Wong R, Ashraf S, Zahid M, et al. Estrogen genotoxicity causes preferential development of Fuchs endothelial corneal dystrophy in females. Redox Biol. 2024;69:102986. https:\/\/doi.org\/10.1016\/j.redox.2023.102986.","journal-title":"Redox Biol"},{"key":"879_CR28","doi-asserted-by":"publisher","first-page":"115279","DOI":"10.1038\/s41598-023-42290-z","volume":"13","author":"S Han","year":"2023","unstructured":"Han S, Mueller C, Wuebbolt C, Kilcullen S, Nayyar V, Calle Gonzalez B, et al. Selective effects of estradiol on human corneal endothelial cells. Sci Rep. 2023;13:115279. https:\/\/doi.org\/10.1038\/s41598-023-42290-z.","journal-title":"Sci Rep"},{"key":"879_CR29","doi-asserted-by":"publisher","first-page":"1261","DOI":"10.1002\/humu.21356","volume":"31","author":"SA Riazuddin","year":"2010","unstructured":"Riazuddin SA, Vithana EN, Seet LF, Liu Y, Al-Saif A, Koh LW, et al. Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy. Hum Mutat. 2010;31:11:1261\u20138. https:\/\/doi.org\/10.1002\/humu.21356.","journal-title":"Hum Mutat"},{"key":"879_CR30","first-page":"2508","volume":"19","author":"MA Minear","year":"2013","unstructured":"Minear MA, Li YJ, Rimmler J, Balajonda E, Watson S, Allingham RR, et al. Genetic screen of African Americans with Fuchs endothelial corneal dystrophy. Mol Vis. 2013;19:2508\u201316. https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24348007.","journal-title":"Mol Vis"},{"key":"879_CR31","doi-asserted-by":"publisher","first-page":"8444","DOI":"10.1038\/jhg.2014.55","volume":"59","author":"N Soumittra","year":"2014","unstructured":"Soumittra N, Loganathan SK, Madhavan D, Ramprasad VL, Arokiasamy T, Sumathi S, et al. Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy. J Hum Genet. 2014;59:8444\u201353. https:\/\/doi.org\/10.1038\/jhg.2014.55.","journal-title":"J Hum Genet"},{"key":"879_CR32","doi-asserted-by":"publisher","first-page":"6","DOI":"10.3892\/ijmm.2016.2570","volume":"37","author":"H Tang","year":"2016","unstructured":"Tang H, Zhang W, Yan XM, Wang LP, Dong H, Shou T, et al. Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy. Int J Mol Med. 2016;37:6. https:\/\/doi.org\/10.3892\/ijmm.2016.2570.","journal-title":"Int J Mol Med"},{"key":"879_CR33","doi-asserted-by":"publisher","first-page":"881","DOI":"10.3389\/fgene.2019.00881","volume":"10","author":"J Zhang","year":"2019","unstructured":"Zhang J, Wu D, Li Y, Fan Y, Chen H, Hong J, et al. Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population. Front Genet. 2019;10:881. https:\/\/doi.org\/10.3389\/fgene.2019.00881.","journal-title":"Front Genet"},{"key":"879_CR34","doi-asserted-by":"publisher","first-page":"354","DOI":"10.1097\/ICO.0000000000002183","volume":"39","author":"S Chaurasia","year":"2020","unstructured":"Chaurasia S, Ramappa M, Annapurna M, Kannabiran C. Coexistence of Congenital Hereditary Endothelial Dystrophy and Fuchs Endothelial Corneal Dystrophy Associated With SLC4A11 Mutations in Affected Families. Cornea. 2020;39:3:354\u20137. https:\/\/doi.org\/10.1097\/ICO.0000000000002183.","journal-title":"Cornea"},{"issue":"2","key":"879_CR35","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1097\/00003226-200303000-00008","volume":"22","author":"H Owens","year":"2003","unstructured":"Owens H, Gamble G. A Profile of Keratoconus in New Zealand. Cornea. 2003;22(2):122\u20135. https:\/\/journals.lww.com\/corneajrnl\/fulltext\/2003\/03000\/a_profile_of_keratoconus_in_new_zealand.8.aspx.","journal-title":"Cornea"},{"key":"879_CR36","doi-asserted-by":"publisher","first-page":"937246","DOI":"10.3389\/fped.2022.937246","volume":"10","author":"K Yang","year":"2022","unstructured":"Yang K, Gu Y, Xu L, Fan Q, Zhu M, Wang Q, et al. Distribution of pediatric keratoconus by different age and gender groups. Front Pediatr. 2022;10:937246. https:\/\/doi.org\/10.3389\/fped.2022.937246.","journal-title":"Front Pediatr"},{"key":"879_CR37","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s12013-017-0790-9","volume":"76","author":"H Yin","year":"2018","unstructured":"Yin H, Wan Q, Tian Y, Zhao B, Deng Y. Female Hormone 17\u03b2-Estradiol Downregulated MMP-2 Expression and Upregulated A1PI Expression in Human Corneal Stromal Cells. Cell Biochem Biophys. 2018;76:1\u20132. https:\/\/doi.org\/10.1007\/s12013-017-0790-9.","journal-title":"Cell Biochem Biophys"},{"key":"879_CR38","doi-asserted-by":"publisher","first-page":"492","DOI":"10.4103\/0301-4738.190100","volume":"64","author":"BL Kumawat","year":"2016","unstructured":"Kumawat BL, Gupta R, Sharma A, Sen S, Gupta S, Tandon R. Delayed onset of congenital hereditary endothelial dystrophy due to compound heterozygous SLC4A11 mutations. Indian J Ophthalmol. 2016;64:7:492\u20135. https:\/\/doi.org\/10.4103\/0301-4738.190100.","journal-title":"Indian J Ophthalmol"},{"key":"879_CR39","doi-asserted-by":"publisher","first-page":"972","DOI":"10.1097\/ico.0000000000002701","volume":"40","author":"V Mittal","year":"2021","unstructured":"Mittal V, Sehdev N, Mittal R. Descemet Membrane Endothelial Keratoplasty in Congenital Hereditary Endothelial Dystrophy: Initial Experiences. Cornea. 2021;40:8:972\u20136. https:\/\/doi.org\/10.1097\/ico.0000000000002701.","journal-title":"Cornea"},{"key":"879_CR40","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1007\/s10792-009-9315-x","volume":"30","author":"R Pineda","year":"2010","unstructured":"Pineda R, Jain V, Shome D, Hunter DC, Natarajan S. Descemet\u2019s stripping endothelial keratoplasty: is it an option for congenital hereditary endothelial dystrophy? Int Ophthalmol. 2010;30:3. https:\/\/doi.org\/10.1007\/s10792-009-9315-x.","journal-title":"Int Ophthalmol"},{"key":"879_CR41","first-page":"2955","volume":"16","author":"P Paliwal","year":"2010","unstructured":"Paliwal P, Sharma A, Tandon R, Sharma N, Titiyal JS, Sen S, et al. Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort. Mol Vis. 2010;16:2955\u201363.","journal-title":"Mol Vis"},{"issue":"4","key":"879_CR42","doi-asserted-by":"publisher","first-page":"522","DOI":"10.4103\/2008-322x.150836","volume":"9","author":"M Panahi-Bazaz","year":"2014","unstructured":"Panahi-Bazaz M, Sharifipour F, Malekahmadi M. Modified Descemet\u2019s stripping automated endothelial keratoplasty for congenital hereditary endothelial dystrophy. J Ophthalmic Vis Res. 2014;9(4):522\u20135. https:\/\/doi.org\/10.4103\/2008-322x.150836.","journal-title":"J Ophthalmic Vis Res"},{"issue":"3","key":"879_CR43","doi-asserted-by":"publisher","first-page":"354","DOI":"10.1097\/ICO.0b013e3181e8441a","volume":"30","author":"V Mittal","year":"2011","unstructured":"Mittal V, Mittal R, Sangwan VS. Successful Descemet stripping endothelial keratoplasty in congenital hereditary endothelial dystrophy. Cornea. 2011;30(3):354\u20136. https:\/\/doi.org\/10.1097\/ICO.0b013e3181e8441a.","journal-title":"Cornea"},{"issue":"2","key":"879_CR44","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1097\/ico.0000000000000670","volume":"35","author":"K Cunnusamy","year":"2016","unstructured":"Cunnusamy K, Bowman CB, Beebe W, Gong X, Hogan RN, Mootha VV. Congenital corneal endothelial dystrophies resulting from novel de novo mutations. Cornea. 2016;35(2):281\u20135. https:\/\/doi.org\/10.1097\/ico.0000000000000670.","journal-title":"Cornea"},{"issue":"12","key":"879_CR45","doi-asserted-by":"publisher","first-page":"1488","DOI":"10.1097\/ICO.0b013e318221c2f3","volume":"30","author":"R Bellucci","year":"2011","unstructured":"Bellucci R, Chierego C, Bellucci C. Endothelial keratoplasty in a newborn baby with CHED. Cornea. 2011;30(12):1488\u201390. https:\/\/doi.org\/10.1097\/ICO.0b013e318221c2f3.","journal-title":"Cornea"},{"issue":"6","key":"879_CR46","doi-asserted-by":"publisher","first-page":"358.e1","DOI":"10.1016\/j.jaapos.2020.07.018","volume":"24","author":"A Saad","year":"2020","unstructured":"Saad A, Ghazal W, Keaik M, Indumathy TR, Fogla R. Outcomes of Descemet\u2019s membrane endothelial keratoplasty for congenital hereditary endothelial dystrophy. J AAPOS. 2020;24(6):358.e1-e6. https:\/\/doi.org\/10.1016\/j.jaapos.2020.07.018.","journal-title":"J AAPOS"},{"issue":"6","key":"879_CR47","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1097\/ico.0000000000002471","volume":"40","author":"R Fogla","year":"2021","unstructured":"Fogla R, Srinivasan B. Corneal folds after Descemet membrane endothelial keratoplasty in congenital hereditary endotheial dystrophy. Cornea. 2021;40(6):715\u20139. https:\/\/doi.org\/10.1097\/ico.0000000000002471.","journal-title":"Cornea"},{"issue":"4","key":"879_CR48","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1097\/ico.0000000000002540","volume":"40","author":"NC Pereira","year":"2021","unstructured":"Pereira NC, Pereira Gomes J\u00c1, Tonin C, Verardo FO, Felippe RS, dos Santos Forseto A. Descemet membrane endothelial keratoplasty in children. Cornea. 2021;40(4):453\u20137. https:\/\/doi.org\/10.1097\/ico.0000000000002540.","journal-title":"Cornea"},{"issue":"6","key":"879_CR49","doi-asserted-by":"publisher","first-page":"1114","DOI":"10.1016\/0002-9394(60)90998-3","volume":"50","author":"AE Maumenee","year":"1960","unstructured":"Maumenee AE. Congenital Hereditary Corneal Dystrophy\u2009<\u2009sup>*<\/sup&gt. Am J Ophthalmol. 1960;50(6):1114\u201324. https:\/\/doi.org\/10.1016\/0002-9394(60)90998-3.","journal-title":"Am J Ophthalmol"},{"issue":"3","key":"879_CR50","doi-asserted-by":"publisher","first-page":"284","DOI":"10.3109\/13816810.2014.881510","volume":"36","author":"J-h Kim","year":"2015","unstructured":"Kim J-h, Ko JM, Tchah H. Fuchs endothelial corneal dystrophy in a heterozygous carrier of congenital hereditary endothelial dystrophy type 2 with a novel mutation in SLC4A11. Ophthalmic Genet. 2015;36(3):284\u20136. https:\/\/doi.org\/10.3109\/13816810.2014.881510.","journal-title":"Ophthalmic Genet"},{"issue":"5","key":"879_CR51","doi-asserted-by":"publisher","first-page":"685","DOI":"10.1080\/13816810.2022.2083182","volume":"43","author":"C Loveridge-Easther","year":"2022","unstructured":"Loveridge-Easther C, Kiray G, Hull S, Vincent AL. Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection. Ophthalmic Genet. 2022;43(5):685\u20138. https:\/\/doi.org\/10.1080\/13816810.2022.2083182.","journal-title":"Ophthalmic Genet"},{"issue":"2","key":"879_CR52","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1136\/bjophthalmol-2020-318204","volume":"106","author":"Z Chibani","year":"2022","unstructured":"Chibani Z, Abid IZ, S\u00f6derkvist P, Feki J, Aifa MH. Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families. Br J Ophthalmol. 2022;106(2):281\u20137. https:\/\/doi.org\/10.1136\/bjophthalmol-2020-318204.","journal-title":"Br J Ophthalmol"},{"issue":"2","key":"879_CR53","doi-asserted-by":"publisher","first-page":"251","DOI":"10.4103\/0301-4738.128638","volume":"62","author":"V Mittal","year":"2014","unstructured":"Mittal V, Mittal R. Challenges in pediatric endothelial keratoplasty. Indian J Ophthalmol. 2014;62(2):251\u20134. https:\/\/doi.org\/10.4103\/0301-4738.128638.","journal-title":"Indian J Ophthalmol"},{"key":"879_CR54","doi-asserted-by":"publisher","first-page":"4538","DOI":"10.1080\/13816810.2022.2051192","volume":"43","author":"M Liu","year":"2022","unstructured":"Liu M, Xia JL, Yang H, Yu L. Compound heterozygous mutations in the SLC4A11 gene associated with congenital hereditary endothelial dystrophy in a Chinese family. Ophthalmic Genet. 2022;43:4538\u201342. https:\/\/doi.org\/10.1080\/13816810.2022.2051192.","journal-title":"Ophthalmic Genet"},{"issue":"1","key":"879_CR55","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02521-4","volume":"17","author":"M Salman","year":"2022","unstructured":"Salman M, Verma A, Chaurasia S, Prasad D, Kannabiran C, Singh V, et al. Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy. Orphanet J Rare Dis. 2022;17(1):361. https:\/\/doi.org\/10.1186\/s13023-022-02521-4.","journal-title":"Orphanet J Rare Dis"},{"key":"879_CR56","doi-asserted-by":"publisher","first-page":"159","DOI":"10.2147\/opth.S28405","volume":"6","author":"HM Anwar","year":"2012","unstructured":"Anwar HM, El Danasoury A, Hashem A. Descemet\u2019s stripping automated endothelial keratoplasty for congenital hereditary endothelial dystrophy. Clin Ophthalmol. 2012;6:159\u201363. https:\/\/doi.org\/10.2147\/opth.S28405.","journal-title":"Clin Ophthalmol"},{"issue":"12","key":"879_CR57","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2024-262450","volume":"17","author":"S Misra","year":"2024","unstructured":"Misra S, Arora A. Rare finding of bilateral Urrets-Zavalia syndrome post Descemet\u2019s stripping endothelial keratoplasty in congenital hereditary endothelial dystrophy in a child. BMJ Case Rep. 2024;17(12):e262450. https:\/\/doi.org\/10.1136\/bcr-2024-262450.","journal-title":"BMJ Case Rep"},{"issue":"4","key":"879_CR58","doi-asserted-by":"publisher","first-page":"678","DOI":"10.1016\/0002-9394(75)90400-6","volume":"80","author":"MM Rodrigues","year":"1975","unstructured":"Rodrigues MM, Waring GO, Laibson PR, Weinreb S. Endothelial alterations in congenital corneal dystrophies. Am J Ophthalmol. 1975;80(4):678\u201389. https:\/\/doi.org\/10.1016\/0002-9394(75)90400-6.","journal-title":"Am J Ophthalmol"},{"issue":"22","key":"879_CR59","doi-asserted-by":"publisher","first-page":"4579","DOI":"10.1093\/hmg\/ddt307","volume":"22","author":"GL Vilas","year":"2013","unstructured":"Vilas GL, Loganathan SK, Liu J, Riau AK, Young JD, Mehta JS, et al. Transmembrane water-flux through SLC4A11: a route defective in genetic corneal diseases. Hum Mol Genet. 2013;22(22):4579\u201390. https:\/\/doi.org\/10.1093\/hmg\/ddt307.","journal-title":"Hum Mol Genet"},{"issue":"24","key":"879_CR60","doi-asserted-by":"publisher","first-page":"E5566","DOI":"10.1073\/pnas.1721814115","volume":"115","author":"Y Cheng","year":"2018","unstructured":"Cheng Y, Yuan Q, Vergnes L, Rong X, Youn JY, Li J, et al. KDM4B protects against obesity and metabolic dysfunction. Proc Natl Acad Sci U S A. 2018;115(24):E5566\u201375. https:\/\/doi.org\/10.1073\/pnas.1721814115.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"879_CR61","doi-asserted-by":"publisher","first-page":"4359","DOI":"10.1089\/ars.2018.7535","volume":"31","author":"Y Xiao","year":"2019","unstructured":"Xiao Y, Meierhofer D. Are hydroethidine-based probes reliable for reactive oxygen species detection? Antioxid Redox Signal. 2019;31:4359\u201367. https:\/\/doi.org\/10.1089\/ars.2018.7535.","journal-title":"Antioxid Redox Signal"},{"issue":"26","key":"879_CR62","doi-asserted-by":"publisher","first-page":"10363","DOI":"10.1074\/jbc.RA118.003044","volume":"293","author":"G Cheng","year":"2018","unstructured":"Cheng G, Zielonka M, Dranka B, Kumar SN, Myers CR, Bennett B, et al. Detection of mitochondria-generated reactive oxygen species in cells using multiple probes and methods: potentials, pitfalls, and the future. J Biol Chem. 2018;293(26):10363\u201380. https:\/\/doi.org\/10.1074\/jbc.RA118.003044.","journal-title":"J Biol Chem"},{"key":"879_CR63","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1007\/978-1-4939-7598-3_32","volume":"1732","author":"Q Wang","year":"2018","unstructured":"Wang Q, Zou MH. Measurement of reactive oxygen species (ROS) and mitochondrial ROS in AMPK knockout mice blood vessels. Methods Mol Biol. 2018;1732:507\u201317. https:\/\/doi.org\/10.1007\/978-1-4939-7598-3_32.","journal-title":"Methods Mol Biol"},{"issue":"6","key":"879_CR64","doi-asserted-by":"publisher","first-page":"1159","DOI":"10.3727\/096368915X688948","volume":"25","author":"RF Frausto","year":"2016","unstructured":"Frausto RF, Le DJ, Aldave AJ. Transcriptomic analysis of cultured corneal endothelial cells as a validation for their use in cell replacement therapy. Cell Transplant. 2016;25(6):1159\u201376. https:\/\/doi.org\/10.3727\/096368915X688948.","journal-title":"Cell Transplant"},{"issue":"55","key":"879_CR65","doi-asserted-by":"publisher","first-page":"7311","DOI":"10.1038\/sj.onc.1209715","volume":"25","author":"G Wang","year":"2006","unstructured":"Wang G, Jones SJM, Marra MA, Sadar MD. Identification of genes targeted by the androgen and PKA signaling pathways in prostate cancer cells. Oncogene. 2006;25(55):7311\u201323. https:\/\/doi.org\/10.1038\/sj.onc.1209715.","journal-title":"Oncogene"},{"issue":"9","key":"879_CR66","doi-asserted-by":"publisher","first-page":"1396","DOI":"10.1158\/1541-7786.Mcr-17-0410","volume":"16","author":"\u00c9 Audet-Walsh","year":"2018","unstructured":"Audet-Walsh \u00c9, Vernier M, Yee T, Laflamme C, Li S, Chen Y, et al. SREBF1 activity is regulated by an AR\/mTOR nuclear axis in prostate cancer. Mol Cancer Res. 2018;16(9):1396\u2013405. https:\/\/doi.org\/10.1158\/1541-7786.Mcr-17-0410.","journal-title":"Mol Cancer Res"},{"issue":"1","key":"879_CR67","doi-asserted-by":"publisher","first-page":"E28","DOI":"10.1152\/ajpendo.90897.2008","volume":"297","author":"CM Paton","year":"2009","unstructured":"Paton CM, Ntambi JM. Biochemical and physiological function of stearoyl-CoA desaturase. Am J Physiol Endocrinol Metab. 2009;297(1):E28\u201337. https:\/\/doi.org\/10.1152\/ajpendo.90897.2008.","journal-title":"Am J Physiol Endocrinol Metab"},{"issue":"3","key":"879_CR68","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2021.109025","volume":"35","author":"W Kuang","year":"2021","unstructured":"Kuang W, Zhang J, Lan Z, Deepak R, Liu C, Ma Z, et al. SLC22A14 is a mitochondrial riboflavin transporter required for sperm oxidative phosphorylation and male fertility. Cell Rep. 2021;35(3):109025. https:\/\/doi.org\/10.1016\/j.celrep.2021.109025.","journal-title":"Cell Rep"},{"issue":"9","key":"879_CR69","doi-asserted-by":"publisher","first-page":"1199","DOI":"10.15252\/embj.201695988","volume":"36","author":"J Schweisgut","year":"2017","unstructured":"Schweisgut J, Schutt C, W\u00fcst S, Wietelmann A, Ghesqui\u00e8re B, Carmeliet P, et al. Sex-specific, reciprocal regulation of ER\u03b1 and miR-22 controls muscle lipid metabolism in male mice. EMBO J. 2017;36(9):1199\u2013214. https:\/\/doi.org\/10.15252\/embj.201695988.","journal-title":"EMBO J"},{"key":"879_CR70","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1146\/annurev.nutr.28.061807.155434","volume":"28","author":"D Saggerson","year":"2008","unstructured":"Saggerson D. Malonyl-CoA, a key signaling molecule in mammalian cells. Annu Rev Nutr. 2008;28:253\u201372. https:\/\/doi.org\/10.1146\/annurev.nutr.28.061807.155434.","journal-title":"Annu Rev Nutr"},{"issue":"3","key":"879_CR71","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1042\/bst0230481","volume":"23","author":"JD McGarry","year":"1995","unstructured":"McGarry JD. Malonyl-CoA and carnitine palmitoyltransferase I: an expanding partnership. Biochem Soc Trans. 1995;23(3):481\u20135. https:\/\/doi.org\/10.1042\/bst0230481.","journal-title":"Biochem Soc Trans"},{"issue":"1","key":"879_CR72","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1016\/S0968-0896(02)00333-4","volume":"11","author":"G Agnihotri","year":"2003","unstructured":"Agnihotri G, Liu H-w. Enoyl-CoA hydratase: reaction, mechanism, and inhibition. Bioorg Med Chem. 2003;11(1):9\u201320. https:\/\/doi.org\/10.1016\/S0968-0896(02)00333-4.","journal-title":"Bioorg Med Chem"},{"issue":"9","key":"879_CR73","doi-asserted-by":"publisher","first-page":"3119","DOI":"10.1158\/0008-5472.can-04-0166","volume":"64","author":"Y Tsuchiya","year":"2004","unstructured":"Tsuchiya Y, Nakajima M, Kyo S, Kanaya T, Inoue M, Yokoi T. Human CYP1B1 is regulated by estradiol via estrogen receptor. Cancer Res. 2004;64(9):3119\u201325. https:\/\/doi.org\/10.1158\/0008-5472.can-04-0166.","journal-title":"Cancer Res"},{"issue":"1","key":"879_CR74","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1530\/joe-11-0044","volume":"212","author":"MH Faulds","year":"2012","unstructured":"Faulds MH, Zhao C, Dahlman-Wright K, Gustafsson J-\u00c5. The diversity of sex steroid action: regulation of metabolism by estrogen signaling. J Endocrinol. 2012;212(1):3\u201312. https:\/\/doi.org\/10.1530\/joe-11-0044.","journal-title":"J Endocrinol"},{"key":"879_CR75","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/j.optom.2012.02.001","volume":"5","author":"E Iyamu","year":"2012","unstructured":"Iyamu E, Osuobeni E. Age, gender, corneal diameter, corneal curvature and central corneal thickness in Nigerians with normal intra ocular pressure. J Optometry. 2012;5:2:87\u201397. https:\/\/doi.org\/10.1016\/j.optom.2012.02.001.","journal-title":"J Optometry"},{"issue":"Suppl 3","key":"879_CR76","first-page":"S175","volume":"88","author":"M Lekskul","year":"2005","unstructured":"Lekskul M, Aimpun P, Nawanopparatskul B, Bumrungsawat S, Trakulmungkijkarn T, Charoenvanichvisit J, et al. The correlations between Central Corneal Thickness and age, gender, intraocular pressure and refractive error of aged 12\u201360 years old in rural Thai community. J Med Assoc Thai. 2005;88(Suppl 3):S175\u20139.","journal-title":"J Med Assoc Thai"},{"key":"879_CR77","first-page":"136228","volume":"51","author":"S Galgauskas","year":"2010","unstructured":"Galgauskas S, Garlaite O, Juotkaite G, Asoklis R, Tutkuviene J. The Correlation Between Central Corneal Thickness, Intraocular Pressure, Age and Gender. Investig Ophthalmol Vis Sci. 2010;51:136228.","journal-title":"Investig Ophthalmol Vis Sci"},{"key":"879_CR78","first-page":"67","volume":"8","author":"Gender differences in corneal thickness values","year":"2004","unstructured":"Gender differences in corneal thickness values. Eur J Anat. 2004;8:67\u201370. http:\/\/www.eurjanat.com\/web\/paper.php?id=04020067.","journal-title":"Eur J Anat"},{"key":"879_CR79","doi-asserted-by":"publisher","first-page":"120885","DOI":"10.1038\/s41598-021-98921-w","volume":"11","author":"BV Alvarez","year":"2021","unstructured":"Alvarez BV, Pich\u00e9 M, Aizouki C, Rahman F, Derry JMJ, Brunette I, et al. Altered gene expression in slc4a11(-\/-) mouse cornea highlights SLC4A11 roles. Sci Rep. 2021;11:120885. https:\/\/doi.org\/10.1038\/s41598-021-98921-w.","journal-title":"Sci Rep"},{"key":"879_CR80","doi-asserted-by":"publisher","first-page":"108884","DOI":"10.1016\/j.exer.2021.108884","volume":"214","author":"DG Ogando","year":"2022","unstructured":"Ogando DG, Bonanno JA. RNA sequencing uncovers alterations in corneal endothelial metabolism, pump and barrier functions of Slc4a11 KO mice. Exp Eye Res. 2022;214:108884. https:\/\/doi.org\/10.1016\/j.exer.2021.108884.","journal-title":"Exp Eye Res"},{"key":"879_CR81","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1016\/j.tig.2011.10.004","volume":"28","author":"AP Arnold","year":"2012","unstructured":"Arnold AP. The end of gonad-centric sex determination in mammals. Trends Genet. 2012;28:2:55\u201361. https:\/\/doi.org\/10.1016\/j.tig.2011.10.004.","journal-title":"Trends Genet"},{"key":"879_CR82","doi-asserted-by":"publisher","first-page":"9005","DOI":"10.1523\/JNEUROSCI.22-20-09005.2002","volume":"22","author":"GJ De Vries","year":"2002","unstructured":"De Vries GJ, Rissman EF, Simerly RB, Yang LY, Scordalakes EM, Auger CJ, et al. A model system for study of sex chromosome effects on sexually dimorphic neural and behavioral traits. J Neurosci. 2002;22:20:9005\u201314. https:\/\/doi.org\/10.1523\/JNEUROSCI.22-20-09005.2002.","journal-title":"J Neurosci"},{"key":"879_CR83","doi-asserted-by":"publisher","first-page":"5807","DOI":"10.1101\/gr.275965.121","volume":"32","author":"M Blencowe","year":"2022","unstructured":"Blencowe M, Chen X, Zhao Y, Itoh Y, McQuillen CN, Han Y, et al. Relative contributions of sex hormones, sex chromosomes, and gonads to sex differences in tissue gene regulation. Genome Res. 2022;32:5807\u201324. https:\/\/doi.org\/10.1101\/gr.275965.121.","journal-title":"Genome Res"},{"key":"879_CR84","doi-asserted-by":"publisher","DOI":"10.1155\/2022\/3091695","volume":"2022","author":"F Aiello","year":"2022","unstructured":"Aiello F, Gallo Afflitto G, Ceccarelli F, Cesareo M, Nucci C. Global prevalence of Fuchs endothelial corneal dystrophy (FECD) in adult population: a systematic review and meta-analysis. J Ophthalmol. 2022;2022:3091695. https:\/\/doi.org\/10.1155\/2022\/3091695.","journal-title":"J Ophthalmol"},{"issue":"12","key":"879_CR85","doi-asserted-by":"publisher","first-page":"1567","DOI":"10.1097\/ICO.0000000000002689","volume":"40","author":"BB Kinariwala","year":"2021","unstructured":"Kinariwala BB, Xu TT, Baratz KH, Aleff RA, Patel SV, Maguire LJ, et al. Relationship of body mass index with Fuchs endothelial corneal dystrophy severity and TCF4 CTG18.1 trinucleotide repeat expansion. Cornea. 2021;40(12):1567\u201370. https:\/\/doi.org\/10.1097\/ICO.0000000000002689.","journal-title":"Cornea"},{"issue":"2","key":"879_CR86","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.66.2.26","volume":"66","author":"Y Yue","year":"2025","unstructured":"Yue Y, Patel SP, Nie J, Andrews CA, Wactawski-Wende J, Shadyab AH, et al. Anthropometric measures and Fuchs\u2019 endothelial corneal dystrophy: the women\u2019s health initiative observational study. Invest Ophthalmol Vis Sci. 2025;66(2):26. https:\/\/doi.org\/10.1167\/iovs.66.2.26.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"8","key":"879_CR87","first-page":"664","volume":"64","author":"AR Kaufman","year":"2023","unstructured":"Kaufman AR, B\u00f6hm M, Kahale F, Leon P, Jurkunas UV. Associations of Fuchs endothelial corneal dystrophy with systemic comorbidities, lifestyle, and nutrition. Investig Ophthalmol Vis Sci. 2023;64(8):664.","journal-title":"Investig Ophthalmol Vis Sci"},{"key":"879_CR88","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1016\/j.molmet.2018.05.008","volume":"15","author":"BT Palmisano","year":"2018","unstructured":"Palmisano BT, Zhu L, Eckel RH, Stafford JM. Sex differences in lipid and lipoprotein metabolism. Mol Metab. 2018;15:45\u201355. https:\/\/doi.org\/10.1016\/j.molmet.2018.05.008.","journal-title":"Mol Metab"}],"container-title":["Biology of Sex Differences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13293-026-00879-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13293-026-00879-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13293-026-00879-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T13:02:52Z","timestamp":1778158972000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s13293-026-00879-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,28]]},"references-count":88,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["879"],"URL":"https:\/\/doi.org\/10.1186\/s13293-026-00879-9","relation":{},"ISSN":["2042-6410"],"issn-type":[{"value":"2042-6410","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,28]]},"assertion":[{"value":"9 December 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 March 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 March 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Approval for this study involving human subjects was obtained from the Institutional Review Boards at the University of California at Los Angeles (UCLA IRB#11\u2013000020) and LV Prasad Eye Institute (LVPEI IRB# LEC-BHR-P-07_23-1065), respectively. Written informed consent was obtained from all subjects in this study using their preferred language according to the tenets of the Declaration of Helsinki. Approval for this study involving animals was obtained from the Animal Research Committee at the University of California at Los Angeles (UCLA ARC-2018-050). All mice were used in the experiments in accordance with institutional guidelines and the current regulations of the National Institutes of Health, the United States Department of Health and Human Services, the United States Department of Agriculture, and the ARVO Statement for the Use of Animals in Ophthalmic and Vision Research.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"99"}}