Citations for
1ACVR1, GDF11, MRPL53, RORA, SHH
Variant Analyses of Candidate Genes in Orofacial Clefts in Multi-Ethnic Populations.
Li M, Olotu J, Buxo-Martinez CJ, Mossey PA, Anand D, Busch T, Alade A, Gowans LJJ, Eshete M, Adeyemo WL, Naicker T, Awotoye WO, Gupta S, Adeleke C, Bravo V, Huang S, Adamson OO, Toraño AM, Bello CA, Soto M, Soto M, Ledesma R, Marquez M, Cordero JF, Lopez-Del Valle LM, Salcedo MI, Debs N, Petrin A, Malloy H, Elhadi K, James O, Ogunlewe MO, Abate F, Hailu A, Mohammed I, Gravem P, Deribew M, Gesses M, Hassan M, Pape J, Obiri-Yeboah S, Arthur FKN, Oti AA, Donkor P, Marazita ML, Lachke SA, Adeyemo AA, Murray JC, Butali A.
Oral Dis. Jun 1. doi: 10.1111/odi.13932. Epub ahead of print. 2021
2IHH, SHH
Synergistic effects of Indian hedgehog and sonic hedgehog on chondrogenesis during cartilage repair.
Chen L, Liu G, Li W, Wu X.
J Mol Histol. Apr;52(2):407-418. doi: 10.1007/s10735-021-09964-2. Epub 2021 Feb 17 2021
3FGF8, SHH
FGF8 and Shh promote the survival and maintenance of multipotent neural crest progenitors.
da Costa MC, Trentin AG, Calloni GW.
Mech Dev 154:251-258. doi: 10.1016/j.mod.2018.07.012. Epub 2018 Aug 1. 2018
4NODAL, SHH, TGFB1, TGIF1, TGIF2
Functions of TGIF homeodomain proteins and their roles in normal brain development and holoprosencephaly.
Wotton D, Taniguchi K.
Am J Med Genet C Semin Med Genet 178(2):128-139. doi: 10.1002/ajmg.c.31612. Epub 2018 May 11. 2018
5IHH, SHH
The Hedgehog signalling pathway in bone formation.
Yang J, Andre P, Ye L, Yang YZ.
Int J Oral Sci. Jun 26;7(2):73-9. doi: 10.1038/ijos.2015.14. 2015
6BMP7, SHH
Axon guidance effects of classical morphogens Shh and BMP7 in the hypothalamo-pituitary system.
Liu F, Placzek M.
Neurosci Lett 562:108-13. Erratum in: Neurosci Lett. 2014 Mar 6;562:107. 2014
7GLI1, S100A14, SHH
Sonic hedgehog-Gli1 signaling pathway regulates the epithelial mesenchymal transition (EMT) by mediating a new target gene, S100A4, in pancreatic cancer cells.
Xu X, Su B, Xie C, Wei S, Zhou Y, Liu H, Dai W, Cheng P, Wang F, Xu X, Guo C.
PLoS One 9(7):e96441. doi: 10.1371/journal.pone.0096441. eCollection 2014. 2014
8HHIP, SHH
Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency.
Gorbenko del Blanco D, de Graaff LC, Visser TJ, Hokken-Koelega AC.
Clin Endocrinol (Oxf) 78(3):415-23. doi: 10.1111/cen.12000. 2013
9GREM1, SHH, TWIST2
Twist2 contributes to termination of limb bud outgrowth and patterning through direct regulation of Grem1.
Wade C, Brinas I, Welfare M, Wicking C, Farlie PG.
Dev Biol 370(1):145-53. doi: 10.1016/j.ydbio.2012.07.025. Epub 2012 Aug 1. 2012
10SHH
Identification of N-terminal residues of Sonic Hedgehog important for palmitoylation by Hedgehog acyltransferase.
Hardy RY, Resh MD.
J Biol Chem 287(51):42881-9. doi: 10.1074/jbc.M112.426833. Epub 2012 Oct 30. 2012
11APP, PTCH1, SHH, TRI21
APP-dependent up-regulation of Ptch1 underlies proliferation impairment of neural precursors in Down syndrome.
Trazzi S, Mitrugno VM, Valli E, Fuchs C, Rizzi S, Guidi S, Perini G, Bartesaghi R, Ciani E.
Hum Mol Genet 20(8):1560-73. Epub 2011 Jan 25. 2011
12SHH
The regulation of tooth morphogenesis is associated with epithelial cell proliferation and the expression of Sonic hedgehog through epithelial-mesenchymal interactions.
Ishida K, Murofushi M, Nakao K, Morita R, Ogawa M, Tsuji T.
Biochem Biophys Res Commun 405(3):455-61. Epub 2011 Jan 19. 2011
13SHH, VEGFA
Canonical hedgehog signaling augments tumor angiogenesis by induction of VEGF-A in stromal perivascular cells.
Chen W, Tang T, Eastham-Anderson J, Dunlap D, Alicke B, Nannini M, Gould S, Yauch R, Modrusan Z, DuPree KJ, Darbonne WC, Plowman G, de Sauvage FJ, Callahan CA.
Proc Natl Acad Sci U S A 108(23):9589-94. Epub 2011 May 19. 2011
14GLI3, SHH
Shh and Gli3 regulate formation of the telencephalic-diencephalic junction and suppress an isthmus-like signaling source in the forebrain.
Rash BG, Grove EA.
Dev Biol. 359(2):242-50 2011
15MMDW, SHH
A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.
Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, Wollnik B.
Hum Mutat 31(1):81-9.PMID: 19847792 2010
16HPE2, HPE3, HPE4, HPE5, SHH, SIX3, TGIF1, ZIC2
Analysis of genotype-phenotype correlations in human holoprosencephaly.
Solomon BD, Mercier S, Vélez JI, Pineda-Alvarez DE, Wyllie A, Zhou N, Dubourg C, David V, Odent S, Roessler E, Muenke M.
Am J Med Genet C Semin Med Genet 154C(1):133-41. Review.PMID: 20104608 2010
17DEL7QD, SHH
Esophageal stenosis in a child presenting a de novo 7q terminal deletion.
Zen PR, Riegel M, Rosa RF, Pinto LL, Graziadio C, Schwartz IV, Paskulin GA.
Eur J Med Genet 53(5):333-6. Epub 2010 Jun 22.PMID: 20601258 2010
18SHH
Hedgehog controls neural stem cells through p53-independent regulation of Nanog.
Po A, Ferretti E, Miele E, De Smaele E, Paganelli A, Canettieri G, Coni S, Di Marcotullio L, Biffoni M, Massimi L, Di Rocco C, Screpanti I, Gulino A.
EMBO J. 29(15):2646-58. 2010
19HPE2, HPE3, HPE4, HPE5, TGIF, shh, six3, zic2
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
Paulussen AD, Schrander-Stumpel CT, Tserpelis DC, Spee MK, Stegmann AP, Mancini GM, Brooks AS, Collée M, Maat-Kievit A, Simon ME, van Bever Y, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Herkert JC, van Essen AJ, Lichtenbelt KD, van Haeringen A, Kwee ML, Lachmeijer AM, Tan-Sindhunata GM, van Maarle MC, Arens YH, Smeets EE, de Die-Smulders CE, Engelen JJ, Smeets HJ, Herbergs J.
Eur J Hum Genet 18(9):999-1005. 2010
20ARRB1, SHH
β-Arrestin-1 links mitogenic sonic hedgehog signaling to the cell cycle exit machinery in neural precursors.
Parathath SR, Mainwaring LA, Fernandez-L A, Guldal CG, Nahlé Z, Kenney AM.
Cell Cycle 9(19):4013-24. Epub 2010 Oct 11. 2010
21IHH, SHH
Distinct expression patterns of hedgehog ligands between cultured and primary colorectal cancers are associated with aberrant methylation of their promoters.
Fu X, Deng H, Zhao L, Li J, Zhou Y, Zhang Y.
Mol Cell Biochem 337(1-2):185-92. doi: 10.1007/s11010-009-0298-8. Epub 2009 Oct 24. 2010
22HPE3, SHH
Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner.
Singh S, Tokhunts R, Baubet V, Goetz JA, Huang ZJ, Schilling NS, Black KE, MacKenzie TA, Dahmane N, Robbins DJ.
Hum Genet 125(1):95-103. Epub 2008 Dec 5. 2009
23BDA1, IHH, SHH
A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range.
Gao B, Hu J, Stricker S, Cheung M, Ma G, Law KF, Witte F, Briscoe J, Mundlos S, He L, Cheah KS, Chan D.
Nature 458(7242):1196-200. Epub 2009 Mar 1. 2009
24PTCH1, SCUBE2, SHH
Isolation and characterization of a secreted, cell-surface glycoprotein SCUBE2 from humans.
Tsai MT, Cheng CJ, Lin YC, Chen CC, Wu AR, Wu MT, Hsu CC, Yang RB.
Biochem J 422(1):119-28. 2009
25APR3, HPE1, HPE10, HPE12, HPE13, HPE14, HPE15, HPE16, HPE17, HPE2, HPE3, HPE4, HPE5, HPE6, HPE7, HPE8, HPE9, SHH, SIX3, TGIF, ZIC2
Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci.
Bendavid C, Rochard L, Dubourg C, Seguin J, Gicquel I, Pasquier L, Vigneron J, Laquerrière A, Marcorelles P, Jeanne-Pasquier C, Rouleau C, Jaillard S, Mosser J, Odent S, David V.
Hum Mutat 30(8):1175-82. 2009
26ABCG2, SHH
Sonic hedgehog signaling proteins and ATP-binding cassette G2 are aberrantly expressed in diffuse large B-cell lymphoma.
Kim JE, Singh RR, Cho-Vega JH, Drakos E, Davuluri Y, Khokhar FA, Fayad L, Medeiros LJ, Vega F.
Mod Pathol 22(10):1312-20. Epub 2009 Jul 10.PMID: 19593328 2009
27SHH
The Sonic Hedgehog pathway stimulates prostate tumor growth by paracrine signaling and recapitulates embryonic gene expression in tumor myofibroblasts.
Shaw A, Gipp J, Bushman W.
Oncogene 28(50):4480-90. Epub 2009 Sep 28.PMID: 19784071 2009
28SHH
Planarian Hh signaling regulates regeneration polarity and links Hh pathway evolution to cilia.
Rink JC, Gurley KA, Elliott SA, Sánchez Alvarado A.
Science. 326(5958):1406-10. 2009
29DUP3PD, HPE13, SHH
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.
Ginocchio VM, De Brasi D, Genesio R, Ciccone R, Gimelli S, Fimiani F, de Berardinis T, Nitsch L, Banfi S, Magli A, Della Casa R.
Eur J Med Genet ur J Med Genet. 2008 Aug 13. [Epub ahead of print] 2008
30SHH, TPT
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.
Klopocki E, Ott CE, Benatar N, Ullmann R, Mundlos S, Lehmann K.
J Med Genet 45(6):370-375. Epub 2008 Jan 4. 2008
31SHH, TPT
A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb.
Furniss D, Lettice LA, Taylor IB, Critchley PS, Giele H, Hill RE, Wilkie AO.
Hum Mol Genet 17(16):2417-23. Epub 2008 May 7. 2008
32AIRE, ATR, BCOR, CCD, COL1A1, COL1A2, CRDAI, CYP27B1, DLX", FTC1, GALNT3, HPC3, NHS, OFCD, OI1A, OI1B, PCNT, PDDR, PGA1, RUNX2, SCKL, SCKL1, SCKL2, SCKL3, SHH, SIOD, SMARCAL1, TDOS, VDDR2, VDR, WHS
The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.
Bailleul-Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns JP, Verloes A.
Eur J Med Genet 51(5):383-408. Epub 2008 May 23. Review. 2008
33HPE2, SHH, SIX3
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.
Jeong Y, Leskow FC, El-Jaick K, Roessler E, Muenke M, Yocum A, Dubourg C, Li X, Geng X, Oliver G, Epstein DJ.
Nat Genet 40(11):1348-53. Epub 2008 Oct 5. 2008
34SHH, TPT
Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.
Sun M, Ma F, Zeng X, Liu Q, Zhao XL, Wu FX, Wu GP, Zhang ZF, Gu B, Zhao YF, Tian SH, Lin B, Kong XY, Zhang XL, Yang W, Lo WH, Zhang X.
J Med Genet 45(9):589-95. Epub 2008 Apr 16. 2008
35PTCH1, SHH
Patched1 regulates hedgehog signaling at the primary cilium.
Rohatgi R, Milenkovic L, Scott MP.
Science 317(5836):372-6. 2007
36HPE 3, HPE4, SHH, TGIF1, HPE10, HPE1, HPE9
MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly.
Bendavid C, Dubourg C, Pasquier L, Gicquel I, Le Gallou S, Mottier S, Durou MR, Henry C, Odent S, David V.
Hum Mutat 28(12):1189-1197. 2007
37SHH
Sonic hedgehog promotes stem-cell potential of MŸller glia in the mammalian retina.
Wan J, Zheng H, Xiao HL, She ZJ, Zhou GM.
Biochem Biophys Res Commun 363(2):347-54. Epub 2007 Sep 10. 2007
38PTCH1, SHH
Distinct roles of first exon variants of the tumor-suppressor Patched1 in Hedgehog signaling.
Shimokawa T, Svärd J, Heby-Henricson K, Teglund S, Toftgård R, Zaphiropoulos PG.
Oncogene 26(34):4889-96. Epub 2007 Feb 19. 2007
39SHH
Activation of the Hedgehog signaling pathway in T-lineage cells inhibits TCR repertoire selection in the thymus and peripheral T-cell activation.
Rowbotham NJ, Hager-Theodorides AL, Cebecauer M, Shah DK, Drakopoulou E, Dyson J, Outram SV, Crompton T.
Blood. 109(9):3757-66. 2007
40SHH
Ectopic sonic hedgehog signaling impairs telencephalic dorsal midline development: implication for human holoprosencephaly.
Huang X, Litingtung Y, Chiang C.
Hum. Molec. Genet. 16(12):1454-68. 2007
41HPE3, HPE2, HPE4, HPE5, SHH, SIX3, TGIF1, ZIC2
Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.
Bendavid C, Dubourg C, Gicquel I, Pasquier L, Saugier-Veber P, Durou MR, Jaillard S, Frebourg T, Haddad BR, Henry C, Odent S, David V.
Hum Genet 119(1-2):1-8. Epub 2005 Dec 2. 2006
42SHH, HPE3
Identification of a submicroscopic deletion of SHH associated with the holoprosencephaly spectrum by array-based CGH.
Huang J, Hoffman JD, Zhang Y, Maisenbacher MK, Zackai EH, Weber BL, Ming JE.
Clin Genet 69(4):367-9. No abstract available. 2006
43SHH, HPE3
Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype.
Santiago G, Abramides DV, De-Vitto LP, Ribeiro LA, Meira SG Jr, Richieri-Costa A.
Am J Med Genet A 140(19):2085-90. 2006
44SHH, FGF9
FGF9 and SHH signaling coordinate lung growth and development through regulation of distinct mesenchymal domains.
White AC, Xu J, Yin Y, Smith C, Schmid G, Ornitz DM.
Development 133(8):1507-17. Epub 2006 Mar 15. 2006
45BTRC, CREBBP, CSRP2, FKBP8, GAS1, GSK3B, HHAT, HHIP, IFT88, KIF27, KIF3A, KIF7, RAB23, SHH, STIL, STK36, SUFU, VTN
Hedgehog signaling and congenital malformations.
Nieuwenhuis E, Hui CC.
Clin Genet 67(3):193-208. 2005
46CCD, HPE3, SHH, RUNX2
Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature.
Fernandez BA, Siegel-Bartelt J, Herbrick JA, Teshima I, Scherer SW.
Clin Genet 68(4):349-59. 2005
47HOXB8, SHH
The microRNA miR-196 acts upstream of Hoxb8 and Shh in limb development.
Hornstein E, Mansfield JH, Yekta S, Hu JK, Harfe BD, McManus MT, Baskerville S, Bartel DP, Tabin CJ.
Nature 438(7068):671-4. 2005
48SHH, CRH, GLI1
Sonic hedgehog regulates CRH signal transduction in the adult pituitary.
Vila G, Papazoglou M, Stalla J, Theodoropoulou M, Stalla GK, Holsboer F, Paez-Pereda M.
FASEB J 19(2):281-3. Epub 2004 Nov 30. 2005
49SHH
Hedgehog signaling and cell cycle control in differentiating erythroid progenitors.
Detmer K, Thompson AJ, Garner RE, Walker AN, Gaffield W, Dannawi H.
Blood Cells Mol Dis 34(1):60-70. 2005
50SHH
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression.
Niedermaier M, Schwabe GC, Fees S, Helmrich A, Brieske N, Seemann P, Hecht J, Seitz V, Stricker S, Leschik G, Schrock E, Selby PB, Mundlos S.
J Clin Invest. 115(4):900-9. 2005
51SHH, IHH
Hedgehog signalling in prostate regeneration, neoplasia and metastasis.
Karhadkar SS, Bova GS, Abdallah N, Dhara S, Gardner D, Maitra A, Isaacs JT, Berman DM, Beachy PA.
Nature 431(7009):707-12. Epub 2004 Sep 12. 2004
52HPE3, SCRA, MNX1, SHH, DEL7Q36
Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.
Horn D, Tonnies H, Neitzel H, Wahl D, Hinkel GK, von Moers A, Bartsch O.
Am J Med Genet A 128(1):85-92. 2004
53SHH, ZIC2, SIX3, TGIF1, HPE3, HPE5, HPE2, HPE4
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.
Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Le Duff F, Durou MR, Odent S, David V.
Hum Mutat 24(1):43-51. 2004
54SHH
Disruption of Fgf10/Fgfr2b-coordinated epithelial-mesenchymal interactions causes cleft palate.
Rice R, Spencer-Dene B, Connor EC, Gritli-Linde A, McMahon AP, Dickson C, Thesleff I, Rice DP.
J Clin Invest. 113(12):1676-8. 2004
55SHH
Beta-arrestin 2 regulates zebrafish development through the hedgehog signaling pathway.
Wilbanks AM, Fralish GB, Kirby ML, Barak LS, Li YX, Caron MG.
Science. 306(5705):2264-7. 2004
56SHH
Hedgehog signalling controls eye degeneration in blind cavefish.
Yamamoto Y, Stock DW, Jeffery WR.
Nature. 431(7010):844-7. 2004
57NSOC, SHH
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia
Schimmenti LA, De La Cruz J, Lewis RA, Karkera JD, Manligas GS, Roessler E, Muenke M.
Am J Med Genet 116(3):215-21. 2003
58HPE3, SHH
Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability.
Marini M, Cusano R, De Biasio P, Caroli F, Lerone M, Silengo M, Ravazzolo R, Seri M, Camera G.
Am J Med Genet 117A(2):112-5. 2003
59NTN1, SHH
The morphogen sonic hedgehog is an axonal chemoattractant that collaborates with netrin-1 in midline axon guidance.
Charron F, Stein E, Jeong J, McMahon AP, Tessier-Lavigne M.
Cell 113(1):11-23. 2003
60DHH, IHH, SHH, SMO
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis.
Cooper MK, Wassif CA, Krakowiak PA, Taipale J, Gong R, Kelley RI, Porter FD, Beachy PA.
Nat Genet 33(4):508-13. Erratum in: Nat Genet. 2003 May;34(1):113. 2003
61IHH, SHH
Molecular mechanisms underlying limb anomalies associated with cholesterol deficiency during gestation: implications of Hedgehog signaling.
Gofflot F, Hars C, Illien F, Chevy F, Wolf C, Picard JJ, Roux C.
Hum Mol Genet 12(10):1187-98. 2003
62SHH
SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.
Schell-Apacik C, Rivero M, Knepper JL, Roessler E, Muenke M, Ming JE.
Hum Genet 113(2):170-7. Epub 2003 Apr 23. 2003
63SHH
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.
Lettice LA, Heaney SJ, Purdie LA, Li L, de Beer P, Oostra BA, Goode D, Elgar G, Hill RE, de Graaff E.
Hum Mol Genet 12(14):1725-35. 2003
64SHH
Hedgehog is an early and late mediator of pancreatic cancer tumorigenesis.
Thayer SP, Di Magliano MP, Heiser PW, Nielsen CM, Roberts DJ, Lauwers GY, Qi YP, Gysin S, Fernandez-Del Castillo C, Yajnik V, Antoniu B, McMahon M, Warshaw AL, Hebrok M.
Nature 425(6960):851-6. Epub 2003 Sep 14. 2003
65SHH
Sonic hedgehog-dependent activation of Gli2 is essential for embryonic hair follicle development.
Mill P, Mo R, Fu H, Grachtchouk M, Kim PC, Dlugosz AA, Hui CC.
Genes Dev. 17(2):282-94. 2003
66SHH
Sonic hedgehog regulates adult neural progenitor proliferation in vitro and in vivo.
Lai K, Kaspar BK, Gage FH, Schaffer DV.
Nat Neurosci. 6(1):21-7. 2003
67SHH
Teratogenesis of holoprosencephaly.
Cohen MM Jr, Shiota K.
Am J Med Genet 109(1):1-15. 2002
68GLI3, SHH
Gli and hedgehog in cancer: tumours, embryos and stem cells.
Ruiz i Altaba A, Sanchez P, Dahmane N.
Nat Rev Cancer 2(5):361-72. Review. 2002
69GLI3, SHH
Shh and Gli3 are dispensable for limb skeleton formation but regulate digit number and identity.
Litingtung Y, Dahn RD, Li Y, Fallon JF, Chiang C.
Nature 418(6901):979-83. 2002
70SHH
Sonic hedgehog is required early in pancreatic islet development.
diIorio PJ, Moss JB, Sbrogna JL, Karlstrom RO, Moss LG.
Dev Biol 244(1):75-84. 2002
71SHH, LRP2
Megalin functions as an endocytic sonic hedgehog receptor.
McCarthy RA, Barth JL, Chintalapudi MR, Knaak C, Argraves WS.
J Biol Chem 277(28):25660-7. Epub 2002 Apr 18. 2002
72SHH
Sonic hedgehog rescues cranial neural crest from cell death induced by ethanol exposure.
Ahlgren SC, Thakur V, Bronner-Fraser M.
Proc Natl Acad Sci U S A. 99(16):10476-81. 2002
73HPE3, HPE5, SHH, ZIC2
Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.
Orioli IM, Castilla EE, Ming JE, Nazer J, Burle De Aguiar MJ, Llerena JC, Muenke M.
Hum Genet 109(1):1-6. 2001
74SHH
Sonic hedgehog control of size and shape in midbrain pattern formation.
Agarwala S, Sanders TA, Ragsdale CW.
Science 291(5511):2147-50. 2001
75DHH, GLI1, IHA, SHH
The hedgehog pathway and basal cell carcinomas.
Bale AE, Yu KP.
Hum Mol Genet 10(7):757-62. Review. 2001
76IHH, SHH, SMO
Smoothened mutants reveal redundant roles for Shh and Ihh signaling including regulation of L/R asymmetry by the mouse node.
Zhang XM, Ramalho-Santos M, McMahon AP.
Cell 105(6):781-92. Corrected and republished in: Cell. 2001 Jul 27;106(2):781-92. 2001
77SHH
Evidence that the WNT-inducible growth arrest-specific gene 1 encodes an antagonist of sonic hedgehog signaling in the somite.
Lee CS, Buttitta L, Fan CM.
Proc Natl Acad Sci U S A. 98(20):11347-52. 2001
78SHH
Hedgehog signaling is required for pituitary gland development.
Treier M, O'Connell S, Gleiberman A, Price J, Szeto DP, Burgess R, Chuang PT, McMahon AP, Rosenfeld MG.
Development. 128(3):377-86. 2001
79HPE2, HPE3, HPE4, HPE8, SHH, SIX3, TGIF1, ZIC2
Mutations in holoprosencephaly.
Wallis D, Muenke M.
Hum Mutat 16(2):99-108. 2000
80SHH, WNT7B
Wnt/Shh interactions regulate ectodermal boundary formation during mammalian tooth development.
Sarkar L, Cobourne M, Naylor S, Smalley M, Dale T, Sharpe PT.
Proc Natl Acad Sci U S A 97(9):4520-4. 2000
81SHH
Expression of the sonic hedgehog gene in human embryos with neural tube defects.
Kirillova I, Novikova I, Auge J, Audollent S, Esnault D, Encha-Razavi F, Lazjuk G, Attie-Bitach T, Vekemans M.
Teratology 61(5):347-54. 2000
82GLI3, SHH
Hedgehog-regulated processing of Gli3 produces an anterior/posterior repressor gradient in the developing vertebrate limb.
Wang B, Fallon JF, Beachy PA.
Cell 100(4):423-34. 2000
83SCRA, SHH
Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment.
Seri M, et al.
Hum Genet 104 : 108-110. 1999
84HPE3, SHH
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Campo MD, Martin RA, Meinecke P, Pierpont ME, Robin NH, Young ID, Roessler E, Muenke M.
Hum Mol Genet 8(13):2479-88 1999
85SHH
Essential role for Sonic hedgehog during hair follicle morphogenesis.
Chiang C, Swan RZ, Grachtchouk M, Bolinger M, Litingtung Y, Robertson EK, Cooper MK, Gaffield W, Westphal H, Beachy PA, Dlugosz AA.
Dev Biol 205(1):1-9 1999
86SHH
Analysis of the human sonic hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly.
Vargas FR, et al.
Hum Genet 102 : 387-392. 1998
87PTCH2, SHH
Characterization of two patched receptors for the vertebrate hedgehog protein family.
Carpenter D, Stone DM, Brush J, Ryan A, Armanini M, Frantz G, Rosenthal A, de Sauvage FJ.
Proc Natl Acad Sci U S A 95 : 13630-13634. 1998
88SHH, PAX3
Sonic hedgehog induces proliferation of committed skeletal muscle cells in the chick limb.
Duprez D, et al.
Development 125 : 495-505. 1998
89PAX1, SHH
Sonic hedgehog is required for survival of both myogenic and chondrogenic somitic lineages.
Teillet M, et al.
Development 125 : 2019-2030. 1998
90SHH
Sonic hedgehog is essential to foregut development.
Litingtung Y, Lei L, Westphal H, Chiang C.
Nat Genet 20(1):58-61. 1998
91IHH, SHH
Identification of a palmitic acid-modified form of human Sonic hedgehog.
Pepinsky RB, Zeng C, Wen D, Rayhorn P, Baker DP, Williams KP, Bixler SA, Ambrose CM, Garber EA, Miatkowski K, Taylor FR, Wang EA, Galdes A.
J Biol Chem 273(22):14037-45. 1998
92SHH, HPE3, DEL7Q36
Cytogenetic rearrangements involving the loss of the sonic hedgehog gene at 7q36 cause holoprosencephaly.
Roessler E, Ward DE, Gaudenz K, Belloni E, Scherer SW, Donnai D, Siegel-Bartelt J, Tsui LC, Muenke M.
Hum Genet 100(2):172-81. 1997
93HPE3, SHH
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.
Roessler E, Belloni E, Gaudenz K, Vargas F, Scherer SW, Tsui LC, Muenke M.
Hum Mol Genet 6(11):1847-53. 1997
94GLI3, SHH
Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development.
Mo R, et al.
Development 124 : 113-123. 1997
95HOXD12, SHH
Hoxd-12 differentially affects preaxial and postaxial chondrogenic branches in the limb and regulates Sonic hedgehog in a positive feedback loop.
Knezevic V, De Santo R, Schughart K, Huffstadt U, Chiang C, Mahon KA, Mackem S.
Development 124(22):4523-36 1997
96SHH
Basal cell carcinomas in mice overexpressing sonic hedgehog.
Oro AE, Higgins KM, Hu Z, Bonifas JM, Epstein EH Jr, Scott MP.
Science. 276(5313):817-21. 1997
97SHH, HPE3
Mutations in the human sonic hedgehog gene cause holoprosencephaly.
Roessler E, et al.
Nat Genet 14 : 357-360. 1996
98HPE3, SHH, SLOS
Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome : does abnormal cholesterol metabolism affect the function of sonic hedgehog ?
Kelley RI, et al.
Am J Med Genet 66 : 478-484. 1996
99SHH
Hedgehog patterning activity : role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain.
Porter JA, et al.
Cell 86 : 21-34. 1996
100SHH
Cholesterol modification of hedgehog signaling proteins in animal development.
Porter JA, et al.
Science 274(5285):255-9 1996
101SHH
Hedgehog patterning activity: role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain.
Porter JA, et al.
Cell 86(1):21-34 1996
102SHH
Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function.
Chiang C, Litingtung Y, Lee E, Young KE, Corden JL, Westphal H, Beachy PA.
Nature. 383(6599):407-13. 1996
103IHH, SHH
Cloning, expression, and chromosomal location of SHH and IHH : two human homologues of the Drosophila segment polarity gene hedgehog.
Marigo V, et al.
Genomics 28 : 44-51. 1995
104BMP2, FGF4, SHH
Sonic hedgehog and Fgf-4 act through a signaling cascade and feedback loop to integrate growth and patterning of the developing limb bud.
Laufer E, et al.
Cell 79 : 993-1003. 1994