Lineage-specific roles of hedgehog-GLI signaling during mammalian kidney development

go back to reference Chiang C, Litingtung Y, Lee E, Young KE, Corden JL, Westphal H, Beachy PA (1996) Cyclopia and defective axial patterning in mice lacking sonic hedgehog gene function. Nature 3:407–413 Chiang C, Litingtung Y, Lee E, Young KE, Corden JL, Westphal H, Beachy PA (1996) Cyclopia and defective axial patterning in mice lacking sonic hedgehog gene function. Nature 3:407–413

go back to reference Hu MC, Mo R, Bhella S, Wilson CW, Chuang P, Hui C, Rosenblum ND (2006) GLI3-dependent transcriptional repression of Gli1, Gli2 and kidney patterning genes disrupts renal morphogenesis. Development 133:569–578PubMed Hu MC, Mo R, Bhella S, Wilson CW, Chuang P, Hui C, Rosenblum ND (2006) GLI3-dependent transcriptional repression of Gli1, Gli2 and kidney patterning genes disrupts renal morphogenesis. Development 133:569–578PubMed

go back to reference Pepicelli CV, Lewis PM, McMahon AP (1998) Sonic hedgehog regulates branching morphogenesis in the mammalian lung. Curr Biol 8:1083–1086PubMed Pepicelli CV, Lewis PM, McMahon AP (1998) Sonic hedgehog regulates branching morphogenesis in the mammalian lung. Curr Biol 8:1083–1086PubMed

go back to reference Yu J, Carroll TJ, McMahon AP (2002) Sonic hedgehog regulates proliferation and differentiation of mesenchymal cells in the mouse metanephric kidney. Development 129:5301–5312PubMed Yu J, Carroll TJ, McMahon AP (2002) Sonic hedgehog regulates proliferation and differentiation of mesenchymal cells in the mouse metanephric kidney. Development 129:5301–5312PubMed

go back to reference Bayani J, Zielenska M, Marrano P, Kwan Ng Y, Taylor MD, Jay V, Rutka JT, Squire JA (2000) Molecular cytogenetic analysis of medulloblastomas and supratentorial primitive neuroectodermal tumors by using conventional banding, comparative genomic hybridization, and spectral karyotyping. J Neurosurg 93:437–448PubMed Bayani J, Zielenska M, Marrano P, Kwan Ng Y, Taylor MD, Jay V, Rutka JT, Squire JA (2000) Molecular cytogenetic analysis of medulloblastomas and supratentorial primitive neuroectodermal tumors by using conventional banding, comparative genomic hybridization, and spectral karyotyping. J Neurosurg 93:437–448PubMed

go back to reference Böse J, Grotewold L, Rüther U (2002) Pallister-Hall syndrome phenotype in mice mutant for Gli3. Hum Mol Genet 11:1129–1135PubMed Böse J, Grotewold L, Rüther U (2002) Pallister-Hall syndrome phenotype in mice mutant for Gli3. Hum Mol Genet 11:1129–1135PubMed

go back to reference Pallister PD, Hecht F, Herrman J (1989) Three additional cases of the congenital hypothalamic “hamartoblastoma” (Pallister-Hall) syndrome. Am J Med Genet 33:500–501PubMed Pallister PD, Hecht F, Herrman J (1989) Three additional cases of the congenital hypothalamic “hamartoblastoma” (Pallister-Hall) syndrome. Am J Med Genet 33:500–501PubMed

go back to reference Hall JG, Pallister PD, Clarren SK, Beckwith JB, Wiglesworth FW, Fraser FC, Cho S, Benke PJ, Reed SD (1980) Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part I: clinical, causal, and pathogenetic considerations. Am J Med Genet 7:47–74PubMed Hall JG, Pallister PD, Clarren SK, Beckwith JB, Wiglesworth FW, Fraser FC, Cho S, Benke PJ, Reed SD (1980) Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part I: clinical, causal, and pathogenetic considerations. Am J Med Genet 7:47–74PubMed

go back to reference Fabian SL, Penchev RR, St-Jacques B, Rao AN, Sipil P, West KA, McMahon AP, Humphreys BD (2012) Hedgehog-Gli pathway activation during kidney fibrosis. Am J Pathol 180:1441–1453PubMedPubMedCentral Fabian SL, Penchev RR, St-Jacques B, Rao AN, Sipil P, West KA, McMahon AP, Humphreys BD (2012) Hedgehog-Gli pathway activation during kidney fibrosis. Am J Pathol 180:1441–1453PubMedPubMedCentral

go back to reference Wilson CW, Chuang P-T (2010) Mechanism and evolution of cytosolic hedgehog signal transduction. Development 137:2079–2094PubMedPubMedCentral Wilson CW, Chuang P-T (2010) Mechanism and evolution of cytosolic hedgehog signal transduction. Development 137:2079–2094PubMedPubMedCentral

go back to reference Chen CH, Von Kessler DP, Park W, Wang B, Ma Y, Beachy PA (1999) Nuclear trafficking of Cubitus interruptus in the transcriptional regulation of hedgehog target gene expression. Cell 98:305–316PubMed Chen CH, Von Kessler DP, Park W, Wang B, Ma Y, Beachy PA (1999) Nuclear trafficking of Cubitus interruptus in the transcriptional regulation of hedgehog target gene expression. Cell 98:305–316PubMed

go back to reference Briscoe J, Thérond PP (2013) The mechanisms of hedgehog signalling and its roles in development and disease. Nat Rev Mol Cell Biol 14:418–431 Briscoe J, Thérond PP (2013) The mechanisms of hedgehog signalling and its roles in development and disease. Nat Rev Mol Cell Biol 14:418–431

go back to reference Wu F, Zhang Y, Sun B, McMahon AP, Wang Y (2017) Hedgehog signaling: from basic biology to cancer therapy. Cell Chem Biol 24:252–280PubMed Wu F, Zhang Y, Sun B, McMahon AP, Wang Y (2017) Hedgehog signaling: from basic biology to cancer therapy. Cell Chem Biol 24:252–280PubMed

go back to reference Colavito SA, Zou MR, Yan Q, Nguyen DX, Stern DF (2014) Significance of glioma-associated oncogene homolog 1 (GLI1) expression in claudin-low breast cancer and crosstalk with the nuclear factor kappa-light-chain-enhancer of activated B cells (NFκB) pathway. Breast Cancer Res 16:1–18 Colavito SA, Zou MR, Yan Q, Nguyen DX, Stern DF (2014) Significance of glioma-associated oncogene homolog 1 (GLI1) expression in claudin-low breast cancer and crosstalk with the nuclear factor kappa-light-chain-enhancer of activated B cells (NFκB) pathway. Breast Cancer Res 16:1–18

go back to reference Wang Y, Jin G, Li Q, Wang Z, Hu W, Li P, Li S, Wu H, Kong X, Gao J, Li Z (2016) Hedgehog signaling non-canonical activated by pro-inflammatory cytokines in pancreatic ductal adenocarcinoma. J Cancer 7:2067–2076PubMedPubMedCentral Wang Y, Jin G, Li Q, Wang Z, Hu W, Li P, Li S, Wu H, Kong X, Gao J, Li Z (2016) Hedgehog signaling non-canonical activated by pro-inflammatory cytokines in pancreatic ductal adenocarcinoma. J Cancer 7:2067–2076PubMedPubMedCentral

go back to reference Sharma N, Nanta R, Sharma J, Gunewardena S, Singh KP, Shankar S, Srivastava RK (2015) PI3K/AKT/mTOR and sonic hedgehog pathways cooperate together to inhibit human pancreatic cancer stem cell characteristics and tumor growth. Oncotarget 6:32039–32060PubMedPubMedCentral Sharma N, Nanta R, Sharma J, Gunewardena S, Singh KP, Shankar S, Srivastava RK (2015) PI3K/AKT/mTOR and sonic hedgehog pathways cooperate together to inhibit human pancreatic cancer stem cell characteristics and tumor growth. Oncotarget 6:32039–32060PubMedPubMedCentral

go back to reference Singh R, Dhanyamraju PK, Lauth M (2017) DYRK1B blocks canonical and promotes non-canonical hedgehog signaling through activation of the mTOR/AKT pathway. Oncotarget 8:833–845PubMed Singh R, Dhanyamraju PK, Lauth M (2017) DYRK1B blocks canonical and promotes non-canonical hedgehog signaling through activation of the mTOR/AKT pathway. Oncotarget 8:833–845PubMed

go back to reference Didiasova M, Schaefer L, Wygrecka M (2018) Targeting gli transcription factors in cancer. Molecules 23:1–19 Didiasova M, Schaefer L, Wygrecka M (2018) Targeting gli transcription factors in cancer. Molecules 23:1–19

go back to reference Pan Y, Wang B (2009) Phosphorylation of Gli2 by protein kinase a is required for Gli2 processing and degradation and the sonic hedgehog-regulated mouse development. Dev Biol 55:177–189 Pan Y, Wang B (2009) Phosphorylation of Gli2 by protein kinase a is required for Gli2 processing and degradation and the sonic hedgehog-regulated mouse development. Dev Biol 55:177–189

go back to reference Niewiadomski P, Kong J, Ahrends R, Ma Y, Humke EW, Khan S, Teruel MN, Novitch BG, Rohatgi R (2014) Gli protein activity is controlled by multi-site phosphorylation in vertebrate hedgehog signaling. Cell Rep 6:168–181PubMed Niewiadomski P, Kong J, Ahrends R, Ma Y, Humke EW, Khan S, Teruel MN, Novitch BG, Rohatgi R (2014) Gli protein activity is controlled by multi-site phosphorylation in vertebrate hedgehog signaling. Cell Rep 6:168–181PubMed

go back to reference Jia J, Amanai K, Wang G, Tang J, Wang B, Jiang J (2002) Shaggy/GSK3 antagonizes hedgehog signalling by regulating Cubitus interruptus. Nature 416:548–552PubMed Jia J, Amanai K, Wang G, Tang J, Wang B, Jiang J (2002) Shaggy/GSK3 antagonizes hedgehog signalling by regulating Cubitus interruptus. Nature 416:548–552PubMed

go back to reference Atwood SX, Li M, Lee A, Tang JY, Oro AE (2013) Gli activation by aPKC iota/lambda regulates basal cell carcinoma growth. Nature 494:484–488PubMedPubMedCentral Atwood SX, Li M, Lee A, Tang JY, Oro AE (2013) Gli activation by aPKC iota/lambda regulates basal cell carcinoma growth. Nature 494:484–488PubMedPubMedCentral

go back to reference Price MA, Kalderon D (2002) Proteolysis of the hedgehog signaling effector Cubitus interruptus requires phosphorylation by glycogen synthase kinase 3 and casein kinase 1. Cell 108:823–835PubMed Price MA, Kalderon D (2002) Proteolysis of the hedgehog signaling effector Cubitus interruptus requires phosphorylation by glycogen synthase kinase 3 and casein kinase 1. Cell 108:823–835PubMed

go back to reference Mao J, Maye P, Kogerman P, Tejedor FJ, Toftgard R, Xie W, Wu G, Wu D (2002) Regulation of Gli1 transcriptional activity in the nucleus by Dyrk1. J Biol Chem 277:35156–35161PubMed Mao J, Maye P, Kogerman P, Tejedor FJ, Toftgard R, Xie W, Wu G, Wu D (2002) Regulation of Gli1 transcriptional activity in the nucleus by Dyrk1. J Biol Chem 277:35156–35161PubMed

go back to reference Wang B, Fallon JF, Beachy PA (2000) Hedgehog-regulated processing of Gli3 produces an anterior/posterior repressor gradient in the developing vertebrate limb. Cell 100:423–434PubMed Wang B, Fallon JF, Beachy PA (2000) Hedgehog-regulated processing of Gli3 produces an anterior/posterior repressor gradient in the developing vertebrate limb. Cell 100:423–434PubMed

go back to reference Rowan CJ, Li W, Martirosyan H, Erwood S, Hu D, Kim Y-K, Sheybani-Deloui S, Mulder J, Blake J, Chen L, Rosenblum ND (2018) Hedgehog-GLI signaling in Foxd1-positive stromal cells promotes murine nephrogenesis via TGFβ signaling. Development 145:1–13 Rowan CJ, Li W, Martirosyan H, Erwood S, Hu D, Kim Y-K, Sheybani-Deloui S, Mulder J, Blake J, Chen L, Rosenblum ND (2018) Hedgehog-GLI signaling in Foxd1-positive stromal cells promotes murine nephrogenesis via TGFβ signaling. Development 145:1–13

go back to reference Cain JE, Islam E, Haxho F, Chen L, Bridgewater D, Nieuwenhuis E, Hui CC, Rosenblum ND (2009) GLI3 repressor controls nephron number via regulation of Wnt11 and Ret in ureteric tip cells. PLoS One 4:1–13 Cain JE, Islam E, Haxho F, Chen L, Bridgewater D, Nieuwenhuis E, Hui CC, Rosenblum ND (2009) GLI3 repressor controls nephron number via regulation of Wnt11 and Ret in ureteric tip cells. PLoS One 4:1–13

go back to reference Blake J, Hu D, Cain JE, Rosenblum ND (2016) Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor. Hum Mol Genet 25:437–447PubMed Blake J, Hu D, Cain JE, Rosenblum ND (2016) Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor. Hum Mol Genet 25:437–447PubMed

go back to reference Bai CB, Auerbach W, Lee JS, Stephen D, Joyner AL (2002) Gli2, but not Gli1, is required for initial Shh signaling and ectopic activation of the Shh pathway. Development 129:4753–4761PubMed Bai CB, Auerbach W, Lee JS, Stephen D, Joyner AL (2002) Gli2, but not Gli1, is required for initial Shh signaling and ectopic activation of the Shh pathway. Development 129:4753–4761PubMed

go back to reference Jenkins D, Winyard PJD, Woolf AS (2007) Immunohistochemical analysis of sonic hedgehog signalling in normal human urinary tract development. J Anat 211:620–629PubMedPubMedCentral Jenkins D, Winyard PJD, Woolf AS (2007) Immunohistochemical analysis of sonic hedgehog signalling in normal human urinary tract development. J Anat 211:620–629PubMedPubMedCentral

go back to reference Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RCM, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GCM, Biesecker LG (2005) Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 76:609–622PubMedPubMedCentral Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RCM, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GCM, Biesecker LG (2005) Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 76:609–622PubMedPubMedCentral

go back to reference Narumi Y, Kosho T, Tsuruta G, Shiohara M, Shimazaki E, Mori T, Shimizu A, Igawa Y, Nishizawa S, Takagi K, Kawamura R, Wakui K, Fukushima Y (2010) Genital abnormalities in Pallister-Hall syndrome: report of two patients and review of the literature. Am J Med Genet A 152(A):3143–3147 Narumi Y, Kosho T, Tsuruta G, Shiohara M, Shimazaki E, Mori T, Shimizu A, Igawa Y, Nishizawa S, Takagi K, Kawamura R, Wakui K, Fukushima Y (2010) Genital abnormalities in Pallister-Hall syndrome: report of two patients and review of the literature. Am J Med Genet A 152(A):3143–3147

go back to reference Jamsheer A, Sowińska A, Trzeciak T, Jamsheer-Bratkowska M, Geppert A, Latos-Bieleńska A (2012) Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations. J Appl Genet 53:415–422PubMedPubMedCentral Jamsheer A, Sowińska A, Trzeciak T, Jamsheer-Bratkowska M, Geppert A, Latos-Bieleńska A (2012) Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations. J Appl Genet 53:415–422PubMedPubMedCentral

go back to reference McPherson E, Cold C (2013) Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies. Am J Med Genet A 161:2666–2669 McPherson E, Cold C (2013) Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies. Am J Med Genet A 161:2666–2669

go back to reference Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T (2015) New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet 23:92–102PubMed Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T (2015) New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet 23:92–102PubMed

go back to reference Kang S, Graham JM Jr, Olney AH, Biesecker LG (1997) GLI3 frameshift mutations cause autosomal dominant Pallister–Hall syndrome. Nat Genet 15:57–61 Kang S, Graham JM Jr, Olney AH, Biesecker LG (1997) GLI3 frameshift mutations cause autosomal dominant Pallister–Hall syndrome. Nat Genet 15:57–61

go back to reference Tsanev R, Tiigimägi P, Michelson P, Metsis M, Østerlund T, Kogerman P (2009) Identification of the gene transcription repressor domain of Gli3. FEBS Lett 583:224–228PubMedPubMedCentral Tsanev R, Tiigimägi P, Michelson P, Metsis M, Østerlund T, Kogerman P (2009) Identification of the gene transcription repressor domain of Gli3. FEBS Lett 583:224–228PubMedPubMedCentral

go back to reference Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Cynthia J (2010) Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat 31:1142–1154PubMedPubMedCentral Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Cynthia J (2010) Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat 31:1142–1154PubMedPubMedCentral

go back to reference Ito S, Kitazawa R, Haraguchi R, Kondo T, Ouchi A, Ueda Y, Kitazawa S (2018) Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas. Diagn Pathol 13:1–4PubMedPubMedCentral Ito S, Kitazawa R, Haraguchi R, Kondo T, Ouchi A, Ueda Y, Kitazawa S (2018) Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas. Diagn Pathol 13:1–4PubMedPubMedCentral

go back to reference Shirakawa T, Nakashima Y, Watanabe S, Harada S, Kinoshita M, Kihara T, Hamasaki Y, Shishido S, Yoshiura K, Moriuchi H, Dateki S (2018) A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure. CEN Case Rep 7:94–97PubMedPubMedCentral Shirakawa T, Nakashima Y, Watanabe S, Harada S, Kinoshita M, Kihara T, Hamasaki Y, Shishido S, Yoshiura K, Moriuchi H, Dateki S (2018) A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure. CEN Case Rep 7:94–97PubMedPubMedCentral

go back to reference Benzacken B, Siffroi JP, Le Bourhis C, Krabchi K, Joye N, Maschino F, Viguie F, Soulie J, Gonzales M, Migne G, Bucourt M, Encha-Razavi F, Carbillon L, Taillemite JL (1997) Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly. J Med Genet 34:899–903PubMedPubMedCentral Benzacken B, Siffroi JP, Le Bourhis C, Krabchi K, Joye N, Maschino F, Viguie F, Soulie J, Gonzales M, Migne G, Bucourt M, Encha-Razavi F, Carbillon L, Taillemite JL (1997) Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly. J Med Genet 34:899–903PubMedPubMedCentral

go back to reference Masuno M, Fukushma Y, Sugio Y, Ikeda M, Kuroki Y (1990) Two unrelated cases of single maxillary central incisor with 7q terminal deletion. Jpn J Hum Genet 35:311–312 Masuno M, Fukushma Y, Sugio Y, Ikeda M, Kuroki Y (1990) Two unrelated cases of single maxillary central incisor with 7q terminal deletion. Jpn J Hum Genet 35:311–312

go back to reference Wang J, Spitz L, Hayward R, Kiely E, Hall CM, O’Donoghue DP, Palmer R, Goodman FR, Scambler PJ, Winter RM, Reardon W (1999) Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families. Eur J Pediatr 158:902–905PubMed Wang J, Spitz L, Hayward R, Kiely E, Hall CM, O’Donoghue DP, Palmer R, Goodman FR, Scambler PJ, Winter RM, Reardon W (1999) Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families. Eur J Pediatr 158:902–905PubMed

go back to reference Zen PR, Riegel M, Rosa RF, Pinto LL, Graziadio C, Schwartz IV, Paskulin GA (2010) Esophageal stenosis in a child presenting a de novo 7q terminal deletion. Eur J Med Genet 53:333–336PubMed Zen PR, Riegel M, Rosa RF, Pinto LL, Graziadio C, Schwartz IV, Paskulin GA (2010) Esophageal stenosis in a child presenting a de novo 7q terminal deletion. Eur J Med Genet 53:333–336PubMed

go back to reference Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Le Duff F, Durou MR, Odent S, David V (2004) Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosence-phaly spectrum: mutation review and genotype-phenotype correlations. Hum Mutat 24:43–51PubMed Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Le Duff F, Durou MR, Odent S, David V (2004) Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosence-phaly spectrum: mutation review and genotype-phenotype correlations. Hum Mutat 24:43–51PubMed

go back to reference Sheybani-Deloui S, Chi L, Staite MV, Cain JE, Nieman BJ, Henkelman RM, Wainwright BJ, Potter SS, Bagli DJ, Lorenzo AJ, Rosenblum ND (2017) Activated hedgehog-GLI signaling causes congenital Ureteropelvic junction obstruction. J Am Soc Nephrol 29:1–13 Sheybani-Deloui S, Chi L, Staite MV, Cain JE, Nieman BJ, Henkelman RM, Wainwright BJ, Potter SS, Bagli DJ, Lorenzo AJ, Rosenblum ND (2017) Activated hedgehog-GLI signaling causes congenital Ureteropelvic junction obstruction. J Am Soc Nephrol 29:1–13

go back to reference Chen H, Ji HY, Yang Y (2016) The expression of Gli3 and Teashirt3 in the stenotic tissue of congenital pelvi-ureteric junction obstruction in children. Int J Med Sci 13:412–417PubMedPubMedCentral Chen H, Ji HY, Yang Y (2016) The expression of Gli3 and Teashirt3 in the stenotic tissue of congenital pelvi-ureteric junction obstruction in children. Int J Med Sci 13:412–417PubMedPubMedCentral

go back to reference Cain JE, Islam E, Haxho F, Blake J, Rosenblum ND (2011) GLI3 repressor controls functional development of the mouse ureter. J Clin Invest 121:1199–1206PubMedPubMedCentral Cain JE, Islam E, Haxho F, Blake J, Rosenblum ND (2011) GLI3 repressor controls functional development of the mouse ureter. J Clin Invest 121:1199–1206PubMedPubMedCentral

go back to reference Rowan CJ, Sheybani-Deloui S, Rosenblum ND (2017) Kidney Development and Disease 60:205–229 Rowan CJ, Sheybani-Deloui S, Rosenblum ND (2017) Kidney Development and Disease 60:205–229

go back to reference Mugford JW, Sipilä P, McMahon JA, McMahon AP (2008) Osr1 expression demarcates a multi-potent population of intermediate mesoderm that undergoes progressive restriction to an Osr1-dependent nephron progenitor compartment within the mammalian kidney. Dev Biol 324:88–98PubMedPubMedCentral Mugford JW, Sipilä P, McMahon JA, McMahon AP (2008) Osr1 expression demarcates a multi-potent population of intermediate mesoderm that undergoes progressive restriction to an Osr1-dependent nephron progenitor compartment within the mammalian kidney. Dev Biol 324:88–98PubMedPubMedCentral

go back to reference Motoyama J, Takabatake T, Takeshima K, Hui CC (1998) Ptch2, a second mouse patched gene is co-expressed with sonic hedgehog. Nat Genet 18:104–106PubMed Motoyama J, Takabatake T, Takeshima K, Hui CC (1998) Ptch2, a second mouse patched gene is co-expressed with sonic hedgehog. Nat Genet 18:104–106PubMed

go back to reference Li W, Hartwig S, Rosenblum ND (2014) Developmental origins and functions of stromal cells in the normal and diseased mammalian kidney. Dev Dyn 243:853–863PubMed Li W, Hartwig S, Rosenblum ND (2014) Developmental origins and functions of stromal cells in the normal and diseased mammalian kidney. Dev Dyn 243:853–863PubMed