Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, et al. Mutations in TBX18 cause dominant urinary tract malformations via transcriptional dysregulation of ureter development. Am J Hum Genet. 2015;97(2):291–301.
Article PubMed PubMed Central CAS Google Scholar
Brophy PD, Rasmussen M, Parida M, Bonde G, Darbro BW, Hong X, et al. A gene implicated in activation of retinoic acid receptor targets is a novel renal agenesis gene in humans. Genetics. 2017;207(1):215–28.
Article PubMed PubMed Central CAS Google Scholar
Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, et al. Exome-wide association study identifies GREB1L mutations in congenital kidney malformations. Am J Hum Genet. 2017;101(5):789–802.
Article PubMed PubMed Central CAS Google Scholar
Arora V, Khan S, El-Hattab AW, Dua Puri R, Rocha ME, Merdzanic R, et al. Biallelic pathogenic GFRA1 variants cause autosomal recessive bilateral renal agenesis. J Am Soc Nephrol. 2021;32(1):223–8.
Article PubMed CAS Google Scholar
De Tomasi L, David P, Humbert C, Silbermann F, Arrondel C, Tores F, et al. Mutations in GREB1L Cause Bilateral Kidney Agenesis in humans and mice. Am J Hum Genet. 2017;101(5):803–14.
Article PubMed PubMed Central Google Scholar
Jacquinet A, Boujemla B, Fasquelle C, Thiry J, Josse C, Lumaka A, et al. GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer–Rokitansky–Kuster–Hauser syndrome. Clin Genet. 2020;98(2):126–37.
Article PubMed CAS Google Scholar
Wang A, Ji B, Wu F, Zhao X. Clinical exome sequencing identifies a novel mutation of the GREB1L gene in a Chinese family with renal agenesis. Genet Test Mol Biomark. 2020;24(8):520–6.
Romero M, Ortega A, Olea N, Arenas MI, Izquierdo A, Bover J, et al. Novel role of parathyroid hormone-related protein in the pathophysiology of the diabetic kidney: evidence from experimental and human diabetic nephropathy. J Diabetes Res. 2013;2013: 162846.
Article PubMed PubMed Central Google Scholar
Mallett AJ, Quinlan C, Patel C, Fowles L, Crawford J, Gattas M, et al. Precision medicine diagnostics for rare kidney disease: Twitter as a tool in clinical genomic translation. Kidney Med. 2019;1(5):315–8.
Article PubMed PubMed Central Google Scholar
Boissel S, Fallet-Bianco C, Chitayat D, Kremer V, Nassif C, Rypens F, et al. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. Genet Med. 2018;20(7):745–53.
Article PubMed CAS Google Scholar
Kari E, Llaci L, Go JL, Naymik M, Knowles JA, Leal SM, et al. Genes implicated in rare congenital inner ear and cochleovestibular nerve malformations. Ear Hear. 2020;41(4):983–9.
Article PubMed PubMed Central Google Scholar
Schrauwen I, Kari E, Mattox J, Llaci L, Smeeton J, Naymik M, et al. De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness. Hum Genet. 2018;137(6–7):459–70.
Article PubMed PubMed Central CAS Google Scholar
Schrauwen I, Liaqat K, Schatteman I, Bharadwaj T, Nasir A, Acharya A, et al. Autosomal dominantly inherited GREB1L variants in individuals with profound sensorineural hearing impairment. Genes. 2020;11(6):687.
Article PubMed Central CAS Google Scholar
Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4(7):1073–81.
Article PubMed CAS Google Scholar
Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet. 2013;Chapter 7:Unit7.20.
Jagadeesh KA, Wenger AM, Berger MJ, Guturu H, Stenson PD, Cooper DN, et al. M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. Nat Genet. 2016;48(12):1581–6.
Article PubMed CAS Google Scholar
Mathews DH, Disney MD, Childs JL, Schroeder SJ, Zuker M, Turner DH. Incorporating chemical modification constraints into a dynamic programming algorithm for prediction of RNA secondary structure. Proc Natl Acad Sci USA. 2004;101(19):7287–92.
Article PubMed PubMed Central CAS Google Scholar
Gruber AR, Lorenz R, Bernhart SH, Neuböck R, Hofacker IL. The Vienna RNA websuite. Nucleic Acids Res. 2008;36(Web Server issue):W70–4.
Lorenz R, Bernhart SH, Höner Zu Siederdissen C, Tafer H, Flamm C, Stadler PF, et al. ViennaRNA Package 2.0. Algorithms Mol Biol. 2011;6:26.
Raffone A, Travaglino A, Saccone G, Mascolo M, Insabato L, Mollo A, et al. PAX2 in endometrial carcinogenesis and in differential diagnosis of endometrial hyperplasia: a systematic review and meta-analysis of diagnostic accuracy. Acta Obstet Gynecol Scand. 2019;98(3):287–99.
Article PubMed CAS Google Scholar
Saifudeen Z, Liu J, Dipp S, Yao X, Li Y, McLaughlin N, et al. A p53-Pax2 pathway in kidney development: implications for nephrogenesis. PLoS ONE. 2012;7(9): e44869.
Article PubMed PubMed Central Google Scholar
Bosch RJ, Ortega A, Izquierdo A, Arribas I, Bover J, Esbrit P. A transgenic mouse model for studying the role of the parathyroid hormone-related protein system in renal injury. J Biomed Biotechnol. 2011;2011: 290874.
Bastepe M, Raas-Rothschild A, Silver J, Weissman I, Wientroub S, Jüppner H, et al. A form of Jansen’s metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation. J Clin Endocrinol Metab. 2004;89(7):3595–600.
Article PubMed CAS Google Scholar
Harshman LA, Brophy PD. PAX2 in human kidney malformations and disease. Pediatric Nephrol. 2012;27(8):1265–75.
Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, et al. Exome-wide association study identifies GREB1L mutations in congenital kidney malformations. Am J Hum Genet. 2017;101(6):1034.
Article PubMed PubMed Central CAS Google Scholar
Herlin MK, Le VQ, Hojland AT, Ernst A, Okkels H, Petersen AC, et al. Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Mullerian and renal agenesis: a novel candidate gene in Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome. A case report. Hum Reprod. 2019;34(9):1838–46.
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