{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:29:22Z","timestamp":1790710162381,"version":"4.1.0"},"reference-count":72,"publisher":"Oxford University Press (OUP)","issue":"12","funder":[{"DOI":"10.13039\/100000199","name":"U.S. Department of Agriculture","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000199","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Agriculture Research Service"},{"name":"Western Human Nutrition Research Center project funds","award":["2032-51000-005-00D"],"award-info":[{"award-number":["2032-51000-005-00D"]}]},{"name":"College of Agricultural and Environmental Sciences at University of California at Davis"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,6,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Zinc is an essential trace mineral. Dietary zinc deficiency results in stunted growth, skin lesions, hypogonadism and frequent infections in humans. Mice genetically lacking Slc30a7 suffer from mild zinc deficiency and are prone to development of prostate cancer and insulin resistance. Disease-causing variants or mutations in the human SLC30A7 (ZNT7) gene have not been previously reported. Here, we describe two-boy siblings from a French family with stunted growth, testicular hypoplasia and bone marrow failure. Exome sequencing revealed compound heterozygous variants in ZNT7 consisting of NM_133496.5:c.21dup; p.Asp8ArgfsTer3 and c.842\u2009+\u200915\u00a0T\u2009&amp;gt;\u2009C inherited from their unaffected mother and father, respectively. The c.21dup variant led to a premature stop codon generated in exon 1 of the ZNT7 coding sequence. RNA-seq analysis demonstrated that the c.842\u2009+\u200915\u00a0T\u2009&amp;gt;\u2009C variant resulted in a leaky mRNA splicing event generating a premature stop codon right after the splicing donor site of exon 8. Moreover, the expression of ZNT7 protein was remarkably reduced by 80\u201396% in the affected brothers compared to the control cells. These findings strongly suggest that biallelic variants in SLC30A7 should be considered as a cause of growth retardation, testicular hypoplasia and syndromic bone marrow failure.<\/jats:p>","DOI":"10.1093\/hmg\/ddad033","type":"journal-article","created":{"date-parts":[[2023,2,23]],"date-time":"2023-02-23T18:35:00Z","timestamp":1677177300000},"page":"2016-2031","source":"Crossref","is-referenced-by-count":8,"title":["Identification of novel compound heterozygous variants in the <i>SLC30A7<\/i> (<i>ZNT7<\/i>) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure"],"prefix":"10.1093","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1217-0114","authenticated-orcid":false,"given":"Liping","family":"Huang","sequence":"first","affiliation":[{"name":"USDA\/ARS\/Western Human Nutrition Research Center , Obesity and Metabolism Research Unit, Davis, California 95616, USA"},{"name":"Graduate Group of Nutritional Biology, Department of Nutrition, University of California Davis , Davis, California 95616, USA"},{"name":"Integrative Genetics and Genomics, University of California Davis , Davis, California 95616, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhongyue","family":"Yang","sequence":"additional","affiliation":[{"name":"Graduate Group of Nutritional Biology, Department of Nutrition, University of California Davis , Davis, California 95616, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine P","family":"Kirschke","sequence":"additional","affiliation":[{"name":"USDA\/ARS\/Western Human Nutrition Research Center, Obesity and Metabolism Research Unit , Davis, California 95616, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e9ment","family":"Prouteau","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Hospital of Angers , Angers 49333, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Christine","family":"Copin","sequence":"additional","affiliation":[{"name":"Department of Pathology, University Hospital of Angers , Angers 49333, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Bonneau","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Hospital of Angers , Angers 49333, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Pellier","sequence":"additional","affiliation":[{"name":"Hematology and Oncology of Pediatrics, University Angers Nantes Universit\u00e9 CHU Angers INSERM CNRS CRCI2NA SFR ICAT , Angers 49333, France"},{"name":"Pediatric Immuno-Hemato-Oncology Unit, University Hospital of Angers , Angers 49333, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00e9gis","family":"Coutant","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, University Hospital of Angers , Angers 49333, France"},{"name":"Reference Center for Rare Pituitary Diseases, University Hospital of Angers , Angers 49333, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charline","family":"Miot","sequence":"additional","affiliation":[{"name":"Hematology and Oncology of Pediatrics, University Angers Nantes Universit\u00e9 CHU Angers INSERM CNRS CRCI2NA SFR ICAT , Angers 49333, France"},{"name":"Pediatric Immuno-Hemato-Oncology Unit, University Hospital of Angers , Angers 49333, France"},{"name":"Immunology and Allergology Laboratory, University Hospital of Angers , Angers 49333, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alban","family":"Ziegler","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Hospital of Angers , Angers 49333, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,2,23]]},"reference":[{"key":"2023062014044584700_ref1","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1083\/jcb.200702081","article-title":"Zinc is a novel intracellular second messenger","volume":"177","author":"Yamasaki","year":"2007","journal-title":"J. Cell Biol."},{"key":"2023062014044584700_ref2","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1007\/s10534-006-9029-8","article-title":"Signal transduction in monocytes: the role of zinc ions","volume":"20","author":"Haase","year":"2007","journal-title":"Biometals"},{"key":"2023062014044584700_ref3","doi-asserted-by":"crossref","DOI":"10.1016\/j.redox.2021.101916","article-title":"Interactions of zinc- and redox-signaling pathways","volume":"41","author":"Hubner","year":"2021","journal-title":"Redox Biol."},{"key":"2023062014044584700_ref4","doi-asserted-by":"crossref","first-page":"1344S","DOI":"10.1093\/jn\/130.5.1344S","article-title":"Human zinc deficiency","volume":"130","author":"Hambidge","year":"2000","journal-title":"J. Nutr."},{"key":"2023062014044584700_ref5","first-page":"307","article-title":"Zinc deficiency in man","volume":"22","author":"Halsted","year":"1963","journal-title":"Isr Med J"},{"key":"2023062014044584700_ref6","doi-asserted-by":"crossref","first-page":"37053","DOI":"10.1074\/jbc.M706631200","article-title":"Znt7 (Slc30a7)-deficient mice display reduced body zinc status and body fat accumulation","volume":"282","author":"Huang","year":"2007","journal-title":"J. Biol. Chem."},{"key":"2023062014044584700_ref7","doi-asserted-by":"crossref","first-page":"33883","DOI":"10.1074\/jbc.M111.309666","article-title":"Znt7-null mice are more susceptible to diet-induced glucose intolerance and insulin resistance","volume":"287","author":"Huang","year":"2012","journal-title":"J. Biol. Chem."},{"key":"2023062014044584700_ref8","doi-asserted-by":"crossref","first-page":"4096","DOI":"10.1074\/jbc.M207644200","article-title":"ZnT7, a novel mammalian zinc transporter, accumulates zinc in the Golgi apparatus","volume":"278","author":"Kirschke","year":"2003","journal-title":"J. Biol. Chem."},{"key":"2023062014044584700_ref9","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1007\/s10735-017-9753-0","article-title":"SLC30A family expression in the pancreatic islets of humans and mice: cellular localization in the beta-cells","volume":"49","author":"Cai","year":"2018","journal-title":"J. Mol. Histol."},{"key":"2023062014044584700_ref10","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.3892\/ijmm.2016.2576","article-title":"A potential role for zinc transporter 7 in testosterone synthesis in mouse Leydig tumor cells","volume":"37","author":"Chu","year":"2016","journal-title":"Int. J. Mol. Med."},{"key":"2023062014044584700_ref11","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1007\/s10735-008-9174-1","article-title":"Expression of the ZNT (SLC30) family members in the epithelium of the mouse prostate during sexual maturation","volume":"39","author":"Kirschke","year":"2008","journal-title":"J. Mol. Histol."},{"key":"2023062014044584700_ref12","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.canlet.2011.04.011","article-title":"A null-mutation in the Znt7 gene accelerates prostate tumor formation in a transgenic adenocarcinoma mouse prostate model","volume":"308","author":"Tepaamorndech","year":"2011","journal-title":"Cancer Lett."},{"key":"2023062014044584700_ref13","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1002\/2211-5463.12211","article-title":"ZNT7 binds to CD40 and influences CD154-triggered p38 MAPK activity in B lymphocytes-a possible regulatory mechanism for zinc in immune function","volume":"7","author":"Tepaamorndech","year":"2017","journal-title":"FEBS Open Bio"},{"key":"2023062014044584700_ref14","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1369\/jhc.6A7032.2006","article-title":"Immunohistochemical analysis of ZnT1, 4, 5, 6, and 7 in the mouse gastrointestinal tract","volume":"55","author":"Yu","year":"2007","journal-title":"J. Histochem. Cytochem."},{"key":"2023062014044584700_ref15","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.mito.2017.12.011","article-title":"Zn(2+)-transporters ZIP7 and ZnT7 play important role in progression of cardiac dysfunction via affecting sarco(endo)plasmic reticulum-mitochondria coupling in hyperglycemic cardiomyocytes","volume":"44","author":"Tuncay","year":"2019","journal-title":"Mitochondrion"},{"key":"2023062014044584700_ref16","doi-asserted-by":"crossref","first-page":"1346","DOI":"10.2337\/db16-1099","article-title":"Hyperglycemia-induced changes in ZIP7 and ZnT7 expression cause Zn(2+) release from the Sarco(endo)plasmic reticulum and mediate ER stress in the heart","volume":"66","author":"Tuncay","year":"2017","journal-title":"Diabetes"},{"key":"2023062014044584700_ref17","doi-asserted-by":"crossref","first-page":"7549","DOI":"10.1074\/jbc.M117.817692","article-title":"Aberrant fatty acid metabolism in skeletal muscle contributes to insulin resistance in zinc transporter 7 (znt7)-knockout mice","volume":"293","author":"Huang","year":"2018","journal-title":"J. Biol. Chem."},{"key":"2023062014044584700_ref18","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/1475-2867-6-10","article-title":"Decreased intracellular zinc in human tumorigenic prostate epithelial cells: a possible role in prostate cancer progression","volume":"6","author":"Huang","year":"2006","journal-title":"Cancer Cell Int."},{"key":"2023062014044584700_ref19","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1016\/j.cellsig.2013.02.003","article-title":"ZnT7 can protect MC3T3-E1 cells from oxidative stress-induced apoptosis via PI3K\/Akt and MAPK\/ERK signaling pathways","volume":"25","author":"Liang","year":"2013","journal-title":"Cell. Signal."},{"key":"2023062014044584700_ref20","doi-asserted-by":"crossref","first-page":"2217","DOI":"10.1038\/s41388-021-01703-x","article-title":"ZnT7 RNAi favors Raf(GOF)scrib(\u2212\/\u2212)-induced tumor growth and invasion in Drosophila through JNK signaling pathway","volume":"40","author":"Wei","year":"2021","journal-title":"Oncogene"},{"key":"2023062014044584700_ref21","doi-asserted-by":"crossref","first-page":"39699","DOI":"10.1074\/jbc.M605821200","article-title":"Identification of a mutation in SLC30A2 (ZnT-2) in women with low milk zinc concentration that results in transient neonatal zinc deficiency","volume":"281","author":"Chowanadisai","year":"2006","journal-title":"J. Biol. Chem."},{"key":"2023062014044584700_ref22","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1038\/s41431-020-00803-8","article-title":"Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy","volume":"29","author":"Lieberwirth","year":"2021","journal-title":"Eur. J. Hum. Genet."},{"key":"2023062014044584700_ref23","doi-asserted-by":"crossref","first-page":"17816","DOI":"10.1038\/srep17816","article-title":"Loss of synaptic Zn2+ transporter function increases risk of febrile seizures","volume":"5","author":"Hildebrand","year":"2015","journal-title":"Sci. Rep."},{"key":"2023062014044584700_ref24","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1093\/brain\/awx013","article-title":"SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome","volume":"140","author":"Perez","year":"2017","journal-title":"Brain"},{"key":"2023062014044584700_ref25","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1186\/s12887-019-1611-7","article-title":"A case of dystonia with polycythemia and hypermanganesemia caused by SLC30A10 mutation: a treatable inborn error of manganese metabolism","volume":"19","author":"Tavasoli","year":"2019","journal-title":"BMC Pediatr."},{"key":"2023062014044584700_ref26","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/j.ajhg.2012.01.017","article-title":"Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease","volume":"90","author":"Quadri","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"2023062014044584700_ref27","doi-asserted-by":"crossref","first-page":"1560","DOI":"10.1038\/s41588-019-0528-2","article-title":"PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels","volume":"51","author":"Martin","year":"2019","journal-title":"Nat. Genet."},{"key":"2023062014044584700_ref28","doi-asserted-by":"crossref","first-page":"1260419","DOI":"10.1126\/science.1260419","article-title":"Proteomics. Tissue-based map of the human proteome","volume":"347","author":"Uhl\u00e9n","year":"2015","journal-title":"Science"},{"key":"2023062014044584700_ref29","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/j.ajhg.2017.09.001","article-title":"DOMINO: using machine learning to predict genes associated with dominant disorders","volume":"101","author":"Quinodoz","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"2023062014044584700_ref30","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1146\/annurev.biochem.76.050106.093909","article-title":"The nonsense-mediated decay RNA surveillance pathway","volume":"76","author":"Chang","year":"2007","journal-title":"Annu. Rev. Biochem."},{"key":"2023062014044584700_ref31","doi-asserted-by":"crossref","first-page":"1977","DOI":"10.1016\/j.febslet.2008.03.004","article-title":"RNA-binding proteins and post-transcriptional gene regulation","volume":"582","author":"Glisovic","year":"2008","journal-title":"FEBS Lett."},{"key":"2023062014044584700_ref32","doi-asserted-by":"crossref","first-page":"3104","DOI":"10.1158\/0008-5472.CAN-13-2235","article-title":"Identification and characterization of small molecules that inhibit nonsense-mediated RNA decay and suppress nonsense p53 mutations","volume":"74","author":"Martin","year":"2014","journal-title":"Cancer Res."},{"key":"2023062014044584700_ref33","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1093\/jn\/126.4.842","article-title":"Dietary zinc deficiency alters 5 alpha-reduction and aromatization of testosterone and androgen and estrogen receptors in rat liver","volume":"126","author":"Om","year":"1996","journal-title":"J. Nutr."},{"key":"2023062014044584700_ref34","doi-asserted-by":"crossref","first-page":"1730","DOI":"10.1152\/ajplegacy.1976.230.6.1730","article-title":"Function of pituitary-gonadal axis in zinc-deficient rats","volume":"230","author":"Lei","year":"1976","journal-title":"Am. J. Phys."},{"key":"2023062014044584700_ref35","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1016\/0002-9343(61)90137-1","article-title":"Syndrome of iron deficiency anemia, hepatosplenomegaly, hypogonadism, dwarfism and geophagia","volume":"31","author":"Prasad","year":"1961","journal-title":"Am. J. Med."},{"key":"2023062014044584700_ref36","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1001\/archinte.1963.03620280007003","article-title":"Biochemical studies on dwarfism, hypogonadism, and anemia","volume":"111","author":"Prasad","year":"1963","journal-title":"Arch. Intern. Med."},{"key":"2023062014044584700_ref37","doi-asserted-by":"crossref","first-page":"76","DOI":"10.3945\/an.112.003186","article-title":"Human zinc deficiency: discovery to initial translation","volume":"4","author":"Sandstead","year":"2013","journal-title":"Adv. Nutr."},{"key":"2023062014044584700_ref38","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1210\/jcem-32-3-361","article-title":"Studies of endocrine function in boys with retarded growth, delayed sexual maturation and zinc deficiency","volume":"32","author":"Coble","year":"1971","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"2023062014044584700_ref39","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1159\/000176575","article-title":"Zinc deficiency: improvement in growth and growth hormone levels with oral zinc therapy","volume":"26","author":"Collipp","year":"1982","journal-title":"Ann Nutr Metab"},{"key":"2023062014044584700_ref40","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1093\/ajcn\/20.5.422","article-title":"Human zinc deficiency, endocrine manifestations and response to treatment","volume":"20","author":"Sandstead","year":"1967","journal-title":"Am. J. Clin. Nutr."},{"key":"2023062014044584700_ref41","article-title":"Insulin-like growth factor-1 (IGF-1) and its monitoring in medical diagnostic and in sports","volume":"11","author":"Bailes","year":"2021","journal-title":"Biomol. Ther."},{"key":"2023062014044584700_ref42","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1210\/jcem-73-2-428","article-title":"Spontaneous growth hormone secretion increases during puberty in normal girls and boys","volume":"73","author":"Rose","year":"1991","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"2023062014044584700_ref43","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1146\/annurev.me.34.020183.002511","article-title":"Structural variants of human growth hormone: biochemical, genetic, and clinical aspects","volume":"34","author":"Chawla","year":"1983","journal-title":"Annu. Rev. Med."},{"key":"2023062014044584700_ref44","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1159\/000124731","article-title":"Zinc in the anterior pituitary of rat: a histochemical and analytical work","volume":"45","author":"Thorlacius-Ussing","year":"1987","journal-title":"Neuroendocrinology"},{"key":"2023062014044584700_ref45","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1677\/JME-07-0039","article-title":"In vitro analysis of hGH secretion in the presence of mutations of amino acids involved in zinc binding","volume":"39","author":"Iliev","year":"2007","journal-title":"J. Mol. Endocrinol."},{"key":"2023062014044584700_ref46","doi-asserted-by":"crossref","first-page":"4215","DOI":"10.1210\/en.2013-1089","article-title":"Effect of zinc binding residues in growth hormone (GH) and altered intracellular zinc content on regulated GH secretion","volume":"154","author":"Petkovic","year":"2013","journal-title":"Endocrinology"},{"key":"2023062014044584700_ref47","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1074\/jbc.M411247200","article-title":"Zinc transporters, ZnT5 and ZnT7, are required for the activation of alkaline phosphatases, zinc-requiring enzymes that are glycosylphosphatidylinositol-anchored to the cytoplasmic membrane","volume":"280","author":"Suzuki","year":"2005","journal-title":"J. Biol. Chem."},{"key":"2023062014044584700_ref48","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1210\/me.2015-1227","article-title":"Molecular genetic regulation of Slc30a8\/ZnT8 reveals a positive association with glucose tolerance","volume":"30","author":"Mitchell","year":"2016","journal-title":"Mol. Endocrinol."},{"key":"2023062014044584700_ref49","doi-asserted-by":"crossref","first-page":"1656","DOI":"10.1007\/s00125-010-1733-9","article-title":"Beta cell-specific Znt8 deletion in mice causes marked defects in insulin processing, crystallisation and secretion","volume":"53","author":"Wijesekara","year":"2010","journal-title":"Diabetologia"},{"key":"2023062014044584700_ref50","first-page":"292","article-title":"Experimental zinc deficiency in man: effect on spermatogenesis","volume":"92","author":"Abbasi","year":"1979","journal-title":"Trans. Assoc. Am. Phys."},{"key":"2023062014044584700_ref51","first-page":"1007","article-title":"Hypogonadism in the zinc-deficient rat: localization of the functional abnormalities","volume":"104","author":"McClain","year":"1984","journal-title":"J. Lab. Clin. Med."},{"key":"2023062014044584700_ref52","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/0021-9975(82)90082-2","article-title":"Effects of dietary zinc deficiency on Leydig cell ultrastructure in the boar","volume":"92","author":"Hesketh","year":"1982","journal-title":"J. Comp. Pathol."},{"key":"2023062014044584700_ref53","doi-asserted-by":"crossref","first-page":"4130","DOI":"10.1016\/S0021-9258(17)43019-5","article-title":"Oxygen-mediated damage of microsomal cytochrome P-450 enzymes in cultured Leydig cells. Role in steroidogenic desensitization","volume":"259","author":"Quinn","year":"1984","journal-title":"J. Biol. Chem."},{"key":"2023062014044584700_ref54","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1016\/j.reprotox.2006.03.017","article-title":"Tertiary-butyl hydroperoxide induced oxidative stress and male reproductive activity in mice: role of transcription factor NF-kappaB and testicular antioxidant enzymes","volume":"22","author":"Kaur","year":"2006","journal-title":"Reprod. Toxicol."},{"key":"2023062014044584700_ref55","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1021\/ed062p990","article-title":"Copper-zinc superoxide dismutase","volume":"62","author":"Valentine","year":"1985","journal-title":"J. Chem. Edu."},{"key":"2023062014044584700_ref56","article-title":"Zinc and oxidative stress: current mechanisms","volume":"6","author":"Marreiro","year":"2017","journal-title":"Antioxidants (Basel)"},{"key":"2023062014044584700_ref57","doi-asserted-by":"crossref","first-page":"57","DOI":"10.4103\/0970-1591.139570","article-title":"Molecular basis for the effects of zinc deficiency on spermatogenesis: an experimental study in the Sprague-Dawley rat model","volume":"31","author":"Omu","year":"2015","journal-title":"Indian J Urol"},{"key":"2023062014044584700_ref58","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1210\/edrv-8-1-1","article-title":"Biological actions of androgens","volume":"8","author":"Mooradian","year":"1987","journal-title":"Endocr. Rev."},{"key":"2023062014044584700_ref59","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/S0950-351X(05)80158-2","article-title":"Developments in the control of testicular function","volume":"6","author":"Swerdloff","year":"1992","journal-title":"Bailliere Clin. Endocrinol. Metab."},{"key":"2023062014044584700_ref60","doi-asserted-by":"crossref","DOI":"10.1155\/2012\/530121","article-title":"The 5 alpha-reductase isozyme family: a review of basic biology and their role in human diseases","volume":"2012","author":"Azzouni","year":"2012","journal-title":"Adv Urol"},{"key":"2023062014044584700_ref61","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.ajhg.2018.07.020","article-title":"De novo mutations activating germline TP53 in an inherited bone-marrow-failure syndrome","volume":"103","author":"Toki","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"2023062014044584700_ref62","doi-asserted-by":"crossref","first-page":"2775","DOI":"10.1182\/blood-2014-05-526285","article-title":"Bone marrow failure and the telomeropathies","volume":"124","author":"Townsley","year":"2014","journal-title":"Blood"},{"key":"2023062014044584700_ref63","doi-asserted-by":"crossref","first-page":"2567","DOI":"10.1182\/blood-2010-07-295238","article-title":"Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells","volume":"117","author":"Dutt","year":"2011","journal-title":"Blood"},{"key":"2023062014044584700_ref64","doi-asserted-by":"crossref","first-page":"2543","DOI":"10.1093\/jn\/133.8.2543","article-title":"Zinc deficiency induces oxidative DNA damage and increases p53 expression in human lung fibroblasts","volume":"133","author":"Ho","year":"2003","journal-title":"J. Nutr."},{"key":"2023062014044584700_ref65","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1093\/bioinformatics\/btv195","article-title":"PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels","volume":"31","author":"Choi","year":"2015","journal-title":"Bioinformatics"},{"key":"2023062014044584700_ref66","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat. Genet."},{"key":"2023062014044584700_ref67","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1093\/bioinformatics\/btu703","article-title":"DANN: a deep learning approach for annotating the pathogenicity of genetic variants","volume":"31","author":"Quang","year":"2015","journal-title":"Bioinformatics"},{"key":"2023062014044584700_ref68","volume-title":"Current Protocols in Cell Biology","author":"Takashima","year":"1998"},{"key":"2023062014044584700_ref69","volume-title":"Current Protocols in Cell Biology","author":"Biddison","year":"1999"},{"key":"2023062014044584700_ref70","doi-asserted-by":"crossref","first-page":"452","DOI":"10.2353\/jmoldx.2007.060175","article-title":"Isolation of microarray-grade total RNA, microRNA, and DNA from a single PAXgene blood RNA tube","volume":"9","author":"Kruhoffer","year":"2007","journal-title":"J Mol Diagn"},{"key":"2023062014044584700_ref71","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/nmeth.3317","article-title":"HISAT: a fast spliced aligner with low memory requirements","volume":"12","author":"Kim","year":"2015","journal-title":"Nat. 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