Request a copy

Full Text

Annexes

• Adam AP Curry CJ Hall JG et al. Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis Am J Med Genet A 2020 182 2646 2661 10.1002/ajmg.a.61847 32924308
• Bertrand S Thisse B Tavares R et al. Unexpected novel relational links uncovered by extensive developmental profiling of nuclear receptor expression PLoS Genet 2007 3 e188 10.1371/journal.pgen.0030188 17997606 2065881
• Bird NC Mabee PM Developmental morphology of the axial skeleton of the zebrafish, Danio rerio (Ostariophysi: Cyprinidae) Dev Dyn Off Publ Am Assoc Anat 2003 228 337 357 10.1002/dvdy.10387
• Bjørsum-Meyer T Herlin M Qvist N Petersen MB Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature J Med Case Rep 2016 10 374 10.1186/s13256-016-1127-9 28003020 5178070
• Boissel S Fallet-Bianco C Chitayat D et al. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis Genet Med Off J Am Coll Med Genet 2017 10.1038/gim.2017.173
• Carapuco M Nóvoa A Bobola N Mallo M Hox genes specify vertebral types in the presomitic mesoderm Genes Dev 2005 19 2116 2121 10.1101/gad.338705 16166377 1221883
• Chang Y-C Manent J Schroeder J et al. Nr6a1 controls hox expression dynamics and is a master regulator of vertebrate trunk development Nat Commun 2022 13 7766 10.1038/s41467-022-35303-4 36522318 9755267
• Cheng J Novati G Pan J et al. Accurate proteome-wide missense variant effect prediction with alphamissense Science 2023 381 eadg7492 10.1126/science.adg7492 37733863
• Chen JW Galloway JL The development of zebrafish tendon and ligament progenitors Dev Camb Engl 2014 141 2035 2045 10.1242/dev.104067
• Chen S Francioli LC Goodrich JK et al. A genomic mutational constraint map using variation in 76,156 human genomes Nature 2024 625 92 100 10.1038/s41586-023-06045-0 38057664
• Christians A Kesdiren E Hennies I et al. Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2 Hum Genet 2023 142 73 88 10.1007/s00439-022-02481-6 36066768
• Chung AC Katz D Pereira FA et al. Loss of orphan receptor germ cell nuclear factor function results in ectopic development of the tail bud and a novel posterior truncation Mol Cell Biol 2001 21 663 677 10.1128/MCB.21.2.663-677.2001 11134352 86646
• Collins RL Glessner JT Porcu E et al. A cross-disorder dosage sensitivity map of the human genome Cell 2022 185 3041 3055e25 10.1016/j.cell.2022.06.036 35917817 9742861
• David R Joos TO Dreyer C Anteroposterior patterning and organogenesis of xenopus laevis require a correct dose of germ cell nuclear factor (xGCNF) Mech Dev 1998 79 137 152 10.1016/S0925-4773(98)00181-6 10349627
• Drake KA Adam M Mahoney R Potter SS Disruption of Hox9,10,11 function results in cellular level lineage infidelity in the kidney Sci Rep 2018 8 6306 10.1038/s41598-018-24782-5 29679048 5910417
• Ferreri F Nicolais C Boglione C Bmertoline B Skeletal characterization of wild and reared zebrafish: anomalies and meristic characters J Fish Biol 2000 56 1115 1128 10.1111/j.1095-8649.2000.tb02127.x
• Fuhrmann G Chung AC Jackson KJ et al. Mouse germline restriction of Oct4 expression by germ cell nuclear factor Dev Cell 2001 1 377 387 10.1016/s1534-5807(01)00038-7 11702949
• Gonzales-Portillo GS Rizvi O Avila MJ Dumont TM The prevalence of 11 ribs and its potential implications in spine surgery Clin Neurol Neurosurg 2021 203 10.1016/j.clineuro.2021.106544 33711639 106544
• Greschik H Wurtz JM Hublitz P et al. Characterization of the DNA-binding and dimerization properties of the nuclear orphan receptor germ cell nuclear factor Mol Cell Biol 1999 19 690 703 10.1128/MCB.19.1.690 9858592 83926
• Gu P LeMenuet D Chung AC-K et al. Orphan nuclear receptor GCNF is required for the repression of pluripotency genes during retinoic acid-induced embryonic stem cell differentiation Mol Cell Biol 2005 25 8507 8519 10.1128/MCB.25.19.8507-8519.2005 16166633 1265758
• Gurtan AM Ravi A Rahl PB et al. Let-7 represses Nr6a1 and a mid-gestation developmental program in adult fibroblasts Genes Dev 2013 27 941 954 10.1101/gad.215376.113 23630078 3650230
• Hall-Craggs MA Williams CE Pattison SH et al. Mayer-rokitansky-kuster-hauser syndrome: diagnosis with MR imaging Radiology 2013 269 787 792 10.1148/radiol.13130211 23942608
• Hambraeus M Börjesson A Ekmark AN et al. Genital malformations in children with VACTERL - has time come to include “G” in the acronym? J Pediatr Surg 2024 10.1016/j.jpedsurg.2024.05.005 38849227
• Hauptmann G Gerster T Two-color whole-mount in situ hybridization to vertebrate and Drosophila embryos Trends Genet TIG 1994 10 266 10.1016/0168-9525(90)90008-t 7940754
• Hauswirth GM Garside VC Wong LSF et al. Breaking constraint of mammalian axial formulae Nat Commun 2022 13 243 10.1038/s41467-021-27335-z 35017475 8752674
• Hentschke M Kurth I Borgmeyer U Hübner CA Germ cell nuclear factor is a repressor of CRIPTO-1 and CRIPTO-3 J Biol Chem 2006 281 33497 33504 10.1074/jbc.M606975200 16954206
• Herlin M Højland AT Petersen MB Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: a case report and review of the literature Am J Med Genet A 2014 164A 2276 2286 10.1002/ajmg.a.36652 24975471
• Hershkovitz R Prenatal diagnosis of isolated abnormal number of ribs Ultrasound Obstet Gynecol 2008 32 506 509 10.1002/uog.5296 18537105
• Hilger A Schramm C Draaken M et al. Familial occurrence of the VATER/VACTERL association Pediatr Surg Int 2012 28 725 729 10.1007/s00383-012-3073-y 22422375
• Hubert KA Wellik DM Hox genes in development and beyond Development 2023 150 10.1242/dev.192476 36645372 10216783 dev192476
• Ibarra-Soria X, Thierion E, Mok GF et al (2023) A transcriptional and regulatory map of mouse somitogenesis. 2023.01.24.525253
• Ioannidis NM Rothstein JH Pejaver V et al. REVEL: an ensemble method for predicting the pathogenicity of rare missense variants Am J Hum Genet 2016 99 877 885 10.1016/j.ajhg.2016.08.016 27666373 5065685
• Jacquinet A Boujemla B Fasquelle C et al. GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome Clin Genet 2020 98 126 137 10.1111/cge.13769 32378186
• Jacquinet A Millar D Lehman A Etiologies of uterine malformations Am J Med Genet A 2016 170 2141 2172 10.1002/ajmg.a.37775 27273803
• Joos TO David R Dreyer C xGCNF, a nuclear orphan receptor is expressed during neurulation in xenopus laevis Mech Dev 1996 60 45 57 10.1016/s0925-4773(96)00599-0 9025060
• Kanamori A Kitani R Oota A et al. Wnt4a is indispensable for genital duct elongation but not for gonadal sex differentiation in the medaka, Oryzias latipes Zoolog Sci 2023 40 348 359 10.2108/zs230050 37818883
• Kapczuk K Iwaniec K Friebe Z Kędzia W Congenital malformations and other comorbidities in 125 women with Mayer-Rokitansky-Küster-Hauser syndrome Eur J Obstet Gynecol Reprod Biol 2016 207 45 49 10.1016/j.ejogrb.2016.10.014 27825026
• Köhler S Doelken SC Mungall CJ et al. The human phenotype ontology project: linking molecular biology and disease through phenotype data Nucleic Acids Res 2014 42 D966 974 10.1093/nar/gkt1026 24217912
• Kircher M Witten DM Jain P et al. A general framework for estimating the relative pathogenicity of human genetic variants Nat Genet 2014 46 310 315 10.1038/ng.2892 24487276 3992975
• Kmita M van Der Hoeven F Zákány J et al. Mechanisms of Hox gene colinearity: transposition of the anterior Hoxb1 gene into the posterior HoxD complex Genes Dev 2000 14 198 211 10.1101/gad.14.2.198 10652274 316340
• Kossack ME High SK Hopton RE et al. Female sex development and reproductive duct formation depend on Wnt4a in zebrafish Genetics 2019 211 219 233 10.1534/genetics.118.301620 30446521
• Laurichesse Delmas H Kohler M Doray B et al. Congenital unilateral renal agenesis: prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries Birth Defects Res 2017 109 1204 1211 10.1002/bdr2.1065 28722320
• Li G Strong A Wang H et al. TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome Am J Med Genet A 2022 188 3469 3481 10.1002/ajmg.a.62972 36161696 10473889
• Ma C Chen N Jolly A et al. Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome Genet Med 2022 24 2262 2273 10.1016/j.gim.2022.08.012 36112137
• McCampbell KK, Springer KN, Wingert RA (2014) Analysis of nephron composition and function in the adult zebrafish kidney. J Vis Exp JoVE E 51644. https://doi.org/10.3791/51644
• Mercader N Fischer S Neumann CJ Prdm1 acts downstream of a sequential RA, Wnt and Fgf signaling cascade during zebrafish forelimb induction Dev Camb Engl 2006 133 2805 2815 10.1242/dev.02455
• Milo Rasouly H, Krishna Murthy SB, Vena N, et al (2025) Exome analysis links kidney malformations to developmental disorders and reveals causal genes. Nat Commun 16:7290. https://doi.org/10.1038/s41467-025-62319-3
• Neelathi UM, Ullah E, George A et al (2025) Variants in NR6A1 cause a novel oculovertebralrenal syndrome. Nat Commun 16:6111. https://doi.org/10.1038/s41467-025-60574-y
• Okumura LM Lesch BJ Page DC The ligand binding domain of GCNF is not required for repression of pluripotency genes in mouse fetal ovarian germ cells PLoS One 2013 8 e66062 10.1371/journal.pone.0066062 23762465 3676325
• Pijuan-Sala B Griffiths JA Guibentif C et al. A single-cell molecular map of mouse gastrulation and early organogenesis Nature 2019 566 490 495 10.1038/s41586-019-0933-9 30787436 6522369
• Purkiss SB, Driscoll B, Cole WG, Alman B (2002) Idiopathic scoliosis in families of children with congenital scoliosis. Clin Orthop 27–31. https://doi.org/10.1097/00003086-200208000-00005
• Rai AS Taylor TKF Smith GHH et al. Congenital abnormalities of the urogenital tract in association with congenital vertebral malformations J Bone Joint Surg Br 2002 84 891 895 10.1302/0301-620x.84b6.11814 12211685
• Raines AM Adam M Magella B et al. Recombineering-based dissection of flanking and paralogous Hox gene functions in mouse reproductive tracts Development 2013 140 2942 2952 10.1242/dev.092569 23760953 3699281
• Rall K Eisenbeis S Henninger V et al. Typical and atypical associated findings in a group of 346 patients with Mayer-Rokitansky-Kuester-Hauser syndrome J Pediatr Adolesc Gynecol 2015 28 362 368 10.1016/j.jpag.2014.07.019 26148785
• Saunders CJ Miller NA Soden SE et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units Sci Transl Med 2012 4 10.1126/scitranslmed.3004041 23035047 154ra135
• Sobreira N Schiettecatte F Valle D Hamosh A GeneMatcher: a matching tool for connecting investigators with an interest in the same gene Hum Mutat 2015 36 928 930 10.1002/humu.22844 26220891 4833888
• Soden SE Saunders CJ Willig LK et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders Sci Transl Med 2014 6 10.1126/scitranslmed.3010076 25473036 265ra168
• Solomon BD Pineda-Alvarez DE Raam MS Cummings DAT Evidence for inheritance in patients with VACTERL association Hum Genet 2010 127 731 733 10.1007/s00439-010-0814-7 20369369 2871973
• Sordino P Duboule D Kondo T Zebrafish hoxa and Evx-2 genes: cloning, developmental expression and implications for the functional evolution of posterior hox genes Mech Dev 1996 59 165 175 10.1016/0925-4773(96)00587-4 8951794
• Stevens SJC Stumpel CTRM Diderich KEM et al. The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene Clin Genet 2022 101 183 189 10.1111/cge.14076 34671974
• Suman Gök E Ayvacı A Ağbaş A et al. The frequency of familial congenital anomalies of the kidney and urinary tract: should we screen asymptomatic first-degree relatives using urinary tract ultrasonography? Nephron 2020 144 170 175 10.1159/000505402 31910412
• Suzuki A Shibata N Developmental process of genital ducts in the medaka, Oryzias latipes Zoolog Sci 2004 21 397 406 10.2108/zsj.21.397 15118227
• Taylor HS Vanden Heuvel GB Igarashi P A conserved hox axis in the mouse and human female reproductive system: late establishment and persistent adult expression of the hoxa cluster genes Biol Reprod 1997 57 1338 1345 10.1095/biolreprod57.6.1338 9408238
• Thaëron C Avaron F Casane D et al. Zebrafish evx1 is dynamically expressed during embryogenesis in subsets of interneurones, posterior gut and urogenital system Mech Dev 2000 99 167 172 10.1016/s0925-4773(00)00473-1 11091087
• Thiem CE Stegmann JD Hilger AC et al. Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation Birth Defects Res 2022 114 478 486 10.1002/bdr2.2008 35362267
• Thisse C Thisse B High-resolution in situ hybridization to whole-mount zebrafish embryos Nat Protoc 2008 3 59 69 10.1038/nprot.2007.514 18193022
• van der Hoeven F Sordino P Fraudeau N et al. Teleost HoxD and HoxA genes: comparison with tetrapods and functional evolution of the HOXD complex Mech Dev 1996 54 9 21 10.1016/0925-4773(95)00455-6 8808402
• van der Ven AT Vivante A Hildebrandt F Novel insights into the pathogenesis of monogenic congenital anomalies of the kidney and urinary tract J Am Soc Nephrol 2018 29 36 50 10.1681/ASN.2017050561 29079659
• van de Ven C Bialecka M Neijts R et al. Concerted involvement of Cdx/Hox genes and Wnt signaling in morphogenesis of the caudal neural tube and cloacal derivatives from the posterior growth zone Development 2011 138 3451 3462 10.1242/dev.066118 21752936
• Warot X Fromental-Ramain C Fraulob V et al. Gene dosage-dependent effects of the Hoxa-13 and Hoxd-13 mutations on morphogenesis of the terminal parts of the digestive and urogenital tracts Development 1997 124 4781 4791 10.1242/dev.124.23.4781 9428414
• Wellik DM Hawkes PJ Capecchi MR Hox11 paralogous genes are essential for metanephric kidney induction Genes Dev 2002 16 1423 1432 10.1101/gad.993302 12050119 186320
• Wingert RA Selleck R Yu J et al. The Cdx genes and retinoic acid control the positioning and segmentation of the zebrafish pronephros PLoS Genet 2007 3 1922 1938 10.1371/journal.pgen.0030189 17953490 2042002
• Wurtz JM Bourguet W Renaud JP et al. A canonical structure for the ligand-binding domain of nuclear receptors Nat Struct Biol 1996 3 206 10.1038/nsb0296-206 8564548
• Yan Y-Z Li Q-P Wu C-C et al. Rate of presence of 11 thoracic vertebrae and 6 lumbar vertebrae in asymptomatic Chinese adult volunteers J Orthop Surg Res 2018 13 10.1186/s13018-018-0835-9 29792213 5966918 124
• Yan ZH Medvedev A Hirose T et al. Characterization of the response element and DNA binding properties of the nuclear orphan receptor germ cell nuclear factor/retinoid receptor-related testis-associated receptor J Biol Chem 1997 272 10565 10572 10.1074/jbc.272.16.10565 9099702
• Yan Z Jetten AM Characterization of the repressor function of the nuclear orphan receptor retinoid receptor-related testis-associated receptor/germ cell nuclear factor J Biol Chem 2000 275 35077 35085 10.1074/jbc.M005566200 10940306
• Young T Rowland JE van de Ven C et al. Cdx and Hox genes differentially regulate posterior axial growth in mammalian embryos Dev Cell 2009 17 516 526 10.1016/j.devcel.2009.08.010 19853565
• Zhao Y Potter SS Functional specificity of the Hoxa13 homeobox Dev Camb Engl 2001 128 3197 3207 10.1242/dev.128.16.3197