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Treatments for the complications of LPI, including growth failure, renal disease, pulmonary alveolar proteinosis, autoimmune disorders and osteoporosis, are limited. Given the early lethality of the only published global Slc7a7 knockout mouse model, a viable animal model to investigate global SLC7A7 deficiency is needed. Hence, we generated two mouse models with global Slc7a7 deficiency (Slc7a7em1Lbu\/em1Lbu; Slc7a7Lbu\/Lbu and Slc7a7em1(IMPC)Bay\/em1(IMPC)Bay; Slc7a7Bay\/Bay) using CRISPR\/Cas9 technology by introducing a deletion of exons 3 and 4. Perinatal lethality was observed in Slc7a7Lbu\/Lbu and Slc7a7Bay\/Bay mice on the C57BL\/6 and C57BL\/6NJ inbred genetic backgrounds, respectively. We noted improved survival of Slc7a7Lbu\/Lbu mice on the 129\u00a0Sv\/Ev \u00d7 C57BL\/6\u00a0F2 background, but postnatal growth failure occurred. Consistent with human LPI, these Slc7a7Lbu\/Lbu mice exhibited reduced plasma and increased urinary concentrations of the cationic amino acids. Histopathological assessment revealed loss of brush border and lipid vacuolation in the renal cortex of Slc7a7Lbu\/Lbu mice, which combined with aminoaciduria suggests proximal tubular dysfunction. Micro-computed tomography of L4 vertebrae and skeletal radiographs showed delayed skeletal development and suggested decreased mineralization in Slc7a7Lbu\/Lbu mice, respectively. In addition to delayed skeletal development and delayed development in the kidneys, the lungs and liver were observed based on histopathological assessment. Overall, our Slc7a7Lbu\/Lbu mouse model on the F2 mixed background recapitulates multiple human LPI phenotypes and may be useful for future studies of LPI pathology.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa107","type":"journal-article","created":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T15:14:22Z","timestamp":1591024462000},"page":"2171-2184","source":"Crossref","is-referenced-by-count":18,"title":["A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance"],"prefix":"10.1093","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9755-7937","authenticated-orcid":false,"given":"Bridget M","family":"Stroup","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronit","family":"Marom","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"},{"name":"Texas Children\u2019s Hospital, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohui","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chih-Wei","family":"Hsu","sequence":"additional","affiliation":[{"name":"Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng-Yen","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Medicine-Pulmonary, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luan D","family":"Truong","sequence":"additional","affiliation":[{"name":"Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Dawson","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingo","family":"Grafe","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"},{"name":"Division of Endocrinology, Diabetes, and Bone Diseases, Department of Medicine III, Center for Healthy Aging, University Clinic, Dresden D-01307, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuqing","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming-Ming","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise","family":"Lanza","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennie Rose","family":"Green","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qin","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"},{"name":"Baylor Genetics, Houston, TX 77021, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J P","family":"Barrish","sequence":"additional","affiliation":[{"name":"Department of Pathology, Texas Children\u2019s Hospital, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Safa","family":"Ani","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey E","family":"Christiansen","sequence":"additional","affiliation":[{"name":"Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John R","family":"Seavitt","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary E","family":"Dickinson","sequence":"additional","affiliation":[{"name":"Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farrah","family":"Kheradmand","sequence":"additional","affiliation":[{"name":"Department of Medicine-Pulmonary, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason D","family":"Heaney","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brendan","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay C","family":"Burrage","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"},{"name":"Texas Children\u2019s Hospital, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,6,5]]},"reference":[{"key":"2020080403103642600_ref1","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1038\/6815","article-title":"SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance","volume":"21","author":"Borsani","year":"1999","journal-title":"Nat. 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Metab."},{"key":"2020080403103642600_ref5","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1007\/BF00191519","article-title":"Skeletal manifestations of lysinuric protein intolerance. A follow-up study of 29 patients","volume":"22","author":"Svedstrom","year":"1993","journal-title":"Skelet. Radiol."},{"key":"2020080403103642600_ref6","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1056\/NEJM198501313120506","article-title":"Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy","volume":"312","author":"Carpenter","year":"1985","journal-title":"N. Engl. J. Med."},{"key":"2020080403103642600_ref7","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/j.ymgmr.2014.03.004","article-title":"Lysinuric protein intolerance presenting with multiple fractures","volume":"1","author":"Posey","year":"2014","journal-title":"Mol. Genet. Metab. 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Pathol."},{"key":"2020080403103642600_ref11","doi-asserted-by":"crossref","first-page":"e312","DOI":"10.1111\/hae.13543","article-title":"Abnormal coagulation and enhanced fibrinolysis due to lysinuric protein intolerance associates with bleeds and renal impairment","volume":"24","author":"Pitkanen","year":"2018","journal-title":"Haemophilia"},{"key":"2020080403103642600_ref12","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/S0022-3476(05)81703-2","article-title":"Lysinuric protein intolerance with chronic interstitial lung disease and pulmonary cholesterol granulomas at onset","volume":"123","author":"Kerem","year":"1993","journal-title":"J. Pediatr."},{"key":"2020080403103642600_ref13","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1007\/s004310050784","article-title":"Lysinuric protein intolerance and systemic lupus erythematosus","volume":"157","author":"Kamoda","year":"1998","journal-title":"Eur. J. 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Pediatr."},{"key":"2020080403103642600_ref18","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.metabol.2006.09.011","article-title":"Long-term oral lysine supplementation in lysinuric protein intolerance","volume":"56","author":"Tanner","year":"2007","journal-title":"Metabolism"},{"key":"2020080403103642600_ref19","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/S0022-3476(75)80296-4","article-title":"Hyperdibasicaminoaciduria, hyperammonemia, and growth retardation: treatment with arginine, lysine, and citrulline","volume":"87","author":"Awrich","year":"1975","journal-title":"J. Pediatr."},{"key":"2020080403103642600_ref20","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1007\/BF00572769","article-title":"Growth hormone studies in lysinuric protein intolerance","volume":"141","author":"Goto","year":"1984","journal-title":"Eur. J. Pediatr."},{"key":"2020080403103642600_ref21","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/8904_2014_362","article-title":"Growth hormone deficiency and Lysinuric protein intolerance: case report and review of the literature","volume":"19","author":"Evelina","year":"2015","journal-title":"JIMD Rep."},{"key":"2020080403103642600_ref22","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1007\/s00431-006-0170-8","article-title":"Growth hormone deficiency in a patient with lysinuric protein intolerance","volume":"165","author":"Esposito","year":"2006","journal-title":"Eur. J. Pediatr."},{"key":"2020080403103642600_ref23","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/8904_2011_15","article-title":"Growth hormone therapy is safe and effective in patients with lysinuric protein intolerance","volume":"1","author":"Niinikoski","year":"2011","journal-title":"JIMD Rep."},{"key":"2020080403103642600_ref24","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1189\/jlb.0910510","article-title":"Arginine transport in human monocytic leukemia THP-1 cells during macrophage differentiation","volume":"90","author":"Barilli","year":"2011","journal-title":"J. Leukoc. Biol."},{"key":"2020080403103642600_ref25","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1016\/j.ymgme.2012.01.008","article-title":"Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance","volume":"105","author":"Barilli","year":"2012","journal-title":"Mol. Genet. 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Rare Dis."},{"key":"2020080403103642600_ref29","doi-asserted-by":"crossref","first-page":"C191","DOI":"10.1152\/ajpcell.00583.2006","article-title":"Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance","volume":"293","author":"Sperandeo","year":"2007","journal-title":"Am. J. Phys. Cell Physiol."},{"key":"2020080403103642600_ref30","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3390\/ijms20215294","article-title":"Inducible Slc7a7 knockout mouse model recapitulates Lysinuric protein intolerance disease","volume":"20","author":"Bodoy","year":"2019","journal-title":"Int. J. Mol. Sci."},{"key":"2020080403103642600_ref31","doi-asserted-by":"crossref","first-page":"2252","DOI":"10.1167\/iovs.17-23513","article-title":"A population study of common ocular abnormalities in C57BL\/6N rd8 mice","volume":"59","author":"Moore","year":"2018","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2020080403103642600_ref32","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/gb-2013-14-7-r82","article-title":"A comparative phenotypic and genomic analysis of C57BL\/6J and C57BL\/6N mouse strains","volume":"14","author":"Simon","year":"2013","journal-title":"Genome Biol."},{"key":"2020080403103642600_ref33","first-page":"551","article-title":"Microphthalmia and associated abnormalities in inbred black mice","volume":"44","author":"Smith","year":"1994","journal-title":"Lab. Anim. Sci."},{"key":"2020080403103642600_ref34","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1038\/ng0597-19","article-title":"Genetic variation among 129 substrains and its importance for targeted mutagenesis in mice","volume":"16","author":"Simpson","year":"1997","journal-title":"Nat. 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Pathol."},{"key":"2020080403103642600_ref41","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2012\/760580","article-title":"Developmental programming of hypertension and kidney disease","volume":"2012","author":"Chong","year":"2012","journal-title":"Int. J. 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Pathol."},{"key":"2020080403103642600_ref45","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1053\/jhep.2003.50212","article-title":"Role of the hepatocyte nuclear factor 4alpha in control of the pregnane X receptor during fetal liver development","volume":"37","author":"Kamiya","year":"2003","journal-title":"Hepatology"},{"key":"2020080403103642600_ref46","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1186\/s12890-019-0903-x","article-title":"Caffeine is associated with improved alveolarization and angiogenesis in male mice following hyperoxia induced lung injury","volume":"19","author":"Dumpa","year":"2019","journal-title":"BMC Pulm. Med."},{"key":"2020080403103642600_ref47","doi-asserted-by":"crossref","first-page":"L860","DOI":"10.1152\/ajplung.00197.2011","article-title":"Intrauterine growth restriction decreases pulmonary alveolar and vessel growth and causes pulmonary artery endothelial cell dysfunction in vitro in fetal sheep","volume":"301","author":"Rozance","year":"2011","journal-title":"Am. J. Physiol. Lung Cell Mol. Physiol."},{"key":"2020080403103642600_ref48","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1038\/s10038-019-0620-6","article-title":"Overview of symptoms and treatment for lysinuric protein intolerance","volume":"64","author":"Noguchi","year":"2019","journal-title":"J. Hum. Genet."},{"key":"2020080403103642600_ref49","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1002\/ajmg.c.30287","article-title":"Lysinuric protein intolerance: reviewing concepts on a multisystem disease","volume":"157C","author":"Sebastio","year":"2011","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"2020080403103642600_ref50","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1093\/hmg\/9.3.431","article-title":"Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI)","volume":"9","author":"Mykkanen","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"2020080403103642600_ref51","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1086\/302700","article-title":"Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance","volume":"66","author":"Sperandeo","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"2020080403103642600_ref52","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1002\/humu.10140","article-title":"Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance","volume":"20","author":"Shoji","year":"2002","journal-title":"Hum. Mutat."},{"key":"2020080403103642600_ref53","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1038\/ejhg.2008.145","article-title":"Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat","volume":"17","author":"Font-Llitjos","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"key":"2020080403103642600_ref54","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1016\/j.metabol.2005.08.016","article-title":"Hazards associated with pregnancies and deliveries in lysinuric protein intolerance","volume":"55","author":"Tanner","year":"2006","journal-title":"Metabolism"},{"key":"2020080403103642600_ref55","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12864-018-4518-z","article-title":"Identification of placental nutrient transporters associated with intrauterine growth restriction and pre-eclampsia","volume":"19","author":"Huang","year":"2018","journal-title":"BMC Genomics"},{"key":"2020080403103642600_ref56","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-016-0550-8","article-title":"Update on Lysinuric Protein Intolerance, a multi-faceted disease retrospective cohort analysis from birth to adulthood","volume":"12","author":"Mauhin","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"2020080403103642600_ref57","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1007\/s10068-017-0236-6","article-title":"Effects of l-arginine on growth hormone and insulin-like growth factor 1","volume":"26","author":"Oh","year":"2017","journal-title":"Food Sci. Biotechnol."},{"key":"2020080403103642600_ref58","doi-asserted-by":"crossref","first-page":"233","DOI":"10.14740\/jocmr2761w","article-title":"Insulin-like growth factor-1 deficiency and cirrhosis establishment","volume":"9","author":"Garza","year":"2017","journal-title":"J. Clin. Med. Res."},{"key":"2020080403103642600_ref59","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.bbrc.2016.04.087","article-title":"SLC7 family transporters control the establishment of left-right asymmetry during organogenesis in medaka by activating mTOR signaling","volume":"474","author":"Asaoka","year":"2016","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"2020080403103642600_ref60","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10545-006-0236-9","article-title":"Treatment of severe osteoporosis with alendronate in a patient with lysinuric protein intolerance","volume":"29","author":"Gomez","year":"2006","journal-title":"J. Inherit. Metab. Dis."},{"key":"2020080403103642600_ref61","first-page":"536","article-title":"Abnormal pulmonary macrophages in lysinuric protein intolerance. Ultrastructural, morphometric, and X-ray microanalytic study","volume":"118","author":"Parto","year":"1994","journal-title":"Arch. Pathol. Lab. Med."},{"key":"2020080403103642600_ref62","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1007\/s10545-007-0558-2","article-title":"Nutrient intake in lysinuric protein intolerance","volume":"30","author":"Tanner","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"2020080403103642600_ref63","doi-asserted-by":"crossref","first-page":"3301","DOI":"10.1007\/s00198-017-4189-7","article-title":"Inflammatory diseases and bone fragility","volume":"28","author":"Briot","year":"2017","journal-title":"Osteoporos. Int."},{"key":"2020080403103642600_ref64","doi-asserted-by":"crossref","first-page":"325","DOI":"10.2174\/1568010054022015","article-title":"Osteoblasts and osteoclasts in bone remodeling and inflammation","volume":"4","author":"Tanaka","year":"2005","journal-title":"Curr. Drug Targets Inflamm. Allergy"},{"key":"2020080403103642600_ref65","first-page":"1","article-title":"The role of macrophage in the pathogenesis of osteoporosis","volume":"20","author":"Yang","year":"2019","journal-title":"Int. J. Mol. Sci."},{"key":"2020080403103642600_ref66","doi-asserted-by":"crossref","first-page":"25103","DOI":"10.1074\/jbc.R109.041087","article-title":"Cellular and molecular mechanisms of bone remodeling","volume":"285","author":"Raggatt","year":"2010","journal-title":"J. Biol. Chem."},{"key":"2020080403103642600_ref67","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41467-017-02541-w","article-title":"Direct cell-cell contact between mature osteoblasts and osteoclasts dynamically controls their functions in vivo","volume":"9","author":"Furuya","year":"2018","journal-title":"Nat. Commun."},{"key":"2020080403103642600_ref68","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1093\/ckj\/sfu107","article-title":"Fanconi syndrome with lysinuric protein intolerance","volume":"7","author":"Riccio","year":"2014","journal-title":"Clin. Kidney J."},{"key":"2020080403103642600_ref69","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/0046-8177(94)90150-3","article-title":"Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance: case reports and autopsy findings of four pediatric patients","volume":"25","author":"Parto","year":"1994","journal-title":"Hum. Pathol."},{"key":"2020080403103642600_ref70","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fped.2018.00205","article-title":"Growth and nutrition in pediatric chronic kidney disease","volume":"6","author":"Silverstein","year":"2018","journal-title":"Front. Pediatr."},{"key":"2020080403103642600_ref71","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/s00467-007-0527-x","article-title":"Growth hormone axis in chronic kidney disease","volume":"23","author":"Mahesh","year":"2008","journal-title":"Pediatr. Nephrol."},{"key":"2020080403103642600_ref72","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1007\/s42000-018-0066-9","article-title":"Growth hormone axis in patients with chronic kidney disease","volume":"18","author":"Paschou","year":"2019","journal-title":"Hormones (Athens)"},{"key":"2020080403103642600_ref73","doi-asserted-by":"crossref","first-page":"4273","DOI":"10.1093\/ndt\/gfs493","article-title":"Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies","volume":"27","author":"Haque","year":"2012","journal-title":"Nephrol. Dial. Transplant."},{"key":"2020080403103642600_ref74","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1007\/s10545-012-9468-z","article-title":"Lysine triggers apoptosis through a NADPH oxidase-dependent mechanism in human renal tubular cells","volume":"35","author":"Verzola","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"key":"2020080403103642600_ref75","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/j.molimm.2015.07.006","article-title":"Dysfunction in macrophage toll-like receptor signaling caused by an inborn error of cationic amino acid transport","volume":"67","author":"Kurko","year":"2015","journal-title":"Mol. Immunol."},{"key":"2020080403103642600_ref76","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/s10545-005-5954-x","article-title":"Increased NO production in lysinuric protein intolerance","volume":"28","author":"Mannucci","year":"2005","journal-title":"J. Inherit. Metab. Dis."},{"key":"2020080403103642600_ref77","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1038\/nm.2544","article-title":"Requirement of argininosuccinate lyase for systemic nitric oxide production","volume":"17","author":"Erez","year":"2011","journal-title":"Nat. Med."},{"key":"2020080403103642600_ref78","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1046\/j.1523-1755.2002.00221.x","article-title":"Nitric oxide and apoptosis in mesangial cells","volume":"61","author":"Brune","year":"2002","journal-title":"Kidney Int."},{"key":"2020080403103642600_ref79","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1093\/toxsci\/kfj168","article-title":"Inducible nitric oxide synthase and apoptosis in murine proximal tubule epithelial cells","volume":"91","author":"Tiwari","year":"2006","journal-title":"Toxicol. Sci."},{"key":"2020080403103642600_ref80","doi-asserted-by":"crossref","first-page":"F1044","DOI":"10.1152\/ajprenal.00341.2005","article-title":"Nitric oxide induces apoptosis in renal tubular epithelial cells through activation of caspase-8","volume":"290","author":"Du","year":"2006","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"2020080403103642600_ref81","doi-asserted-by":"crossref","first-page":"3078","DOI":"10.1093\/bioinformatics\/btv308","article-title":"WGE: a CRISPR database for genome engineering","volume":"31","author":"Hodgkins","year":"2015","journal-title":"Bioinformatics"},{"key":"2020080403103642600_ref82","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12915-018-0529-0","article-title":"Comparative analysis of single-stranded DNA donors to generate conditional null mouse alleles","volume":"16","author":"Lanza","year":"2018","journal-title":"BMC Biol."},{"key":"2020080403103642600_ref83","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/j.ydbio.2016.09.011","article-title":"Three-dimensional microCT imaging of mouse development from early post-implantation to early postnatal stages","volume":"419","author":"Hsu","year":"2016","journal-title":"Dev. Biol."},{"key":"2020080403103642600_ref84","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/cpmo.63","article-title":"High resolution imaging of mouse embryos and neonates with X-ray micro-computed tomography","volume":"9","author":"Hsu","year":"2019","journal-title":"Curr. Protoc. Mouse Biol."},{"key":"2020080403103642600_ref85","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1371\/journal.pone.0084321","article-title":"Structural stabilization of tissue for embryo phenotyping using micro-CT with iodine staining","volume":"8","author":"Wong","year":"2013","journal-title":"PLoS One"},{"key":"2020080403103642600_ref86","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1177\/000456329503200103","article-title":"Quantitative methods for amino acid analysis in biological fluids","volume":"32","author":"Walker","year":"1995","journal-title":"Ann. Clin. Biochem."},{"key":"2020080403103642600_ref87","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1172\/jci.insight.124317","article-title":"Cigarette smoke-induced reduction of C1q promotes emphysema","volume":"4","author":"Yuan","year":"2019","journal-title":"JCI Insight"},{"key":"2020080403103642600_ref88","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2(\u2212Delta Delta C(T)) method","volume":"25","author":"Livak","year":"2001","journal-title":"Methods"},{"key":"2020080403103642600_ref89","first-page":"189","article-title":"Why we (usually) don't have to worry about multiple comparisons","volume":"5","author":"Gelman","year":"2012","journal-title":"J. Res. Edu. 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