XB-ART-10279
Am J Hum Genet
2000 Nov 01;675:1047-54. doi: 10.1016/S0002-9297(07)62934-6.
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The sonic hedgehog-patched-gli pathway in human development and disease.
Villavicencio EH
,
Walterhouse DO
,
Iannaccone PM
.
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Species referenced: Xenopus
Genes referenced: ptch1 shh
References [+] :
Akimaru,
Drosophila CBP is a co-activator of cubitus interruptus in hedgehog signalling.
1997, Pubmed
Akimaru, Drosophila CBP is a co-activator of cubitus interruptus in hedgehog signalling. 1997, Pubmed
Arheden, In situ hybridization localizes the human putative oncogene GLI to chromosome subbands 12q13.3-14.1. 1989, Pubmed
Bale, Relationship between head circumference and height in normal adults and in the nevoid basal cell carcinoma syndrome and neurofibromatosis type I. 1991, Pubmed
Belloni, Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. 1996, Pubmed
Blough, Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome. 2000, Pubmed
Bourgeois, The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. 1998, Pubmed
Brewster, Gli/Zic factors pattern the neural plate by defining domains of cell differentiation. 1998, Pubmed , Xenbase
Cohen, Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. 1989, Pubmed
Dahmane, Activation of the transcription factor Gli1 and the Sonic hedgehog signalling pathway in skin tumours. 1997, Pubmed , Xenbase
Dai, Sonic Hedgehog-induced activation of the Gli1 promoter is mediated by GLI3. 1999, Pubmed , Xenbase
Donnai, Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome? 1987, Pubmed
el Ghouzzi, Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 1997, Pubmed
El Ghouzzi, Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location. 2000, Pubmed
Ghali, Gli1 protein is expressed in basal cell carcinomas, outer root sheath keratinocytes and a subpopulation of mesenchymal cells in normal human skin. 1999, Pubmed
Gitelman, Twist protein in mouse embryogenesis. 1997, Pubmed
Gorlin, Nevoid basal cell carcinoma syndrome. 1995, Pubmed
Grachtchouk, Basal cell carcinomas in mice overexpressing Gli2 in skin. 2000, Pubmed
Howard, Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. 1997, Pubmed
Kalff-Suske, Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. 1999, Pubmed , Xenbase
Kang, GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. 1997, Pubmed , Xenbase
Kas, Assignment of the gene encoding human Krüppel-related zinc finger protein 4 (GLI4) to 8q24.3 by fluorescent in situ hybridization. 1996, Pubmed
Kelley, Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? 1996, Pubmed
Keys, Recruitment of a hedgehog regulatory circuit in butterfly eyespot evolution. 1999, Pubmed
King, Developmental biology. Antagonists on the left flank. 1999, Pubmed , Xenbase
Kinzler, The GLI gene encodes a nuclear protein which binds specific sequences in the human genome. 1990, Pubmed
Kinzler, Identification of an amplified, highly expressed gene in a human glioma. 1987, Pubmed
Kinzler, The GLI gene is a member of the Kruppel family of zinc finger proteins. 1988, Pubmed , Xenbase
Kogerman, Mammalian suppressor-of-fused modulates nuclear-cytoplasmic shuttling of Gli-1. 1999, Pubmed
Lee, Gli1 is a target of Sonic hedgehog that induces ventral neural tube development. 1997, Pubmed , Xenbase
Maesawa, Mutations in the human homologue of the Drosophila patched gene in esophageal squamous cell carcinoma. 1998, Pubmed
Maestro, Twist is a potential oncogene that inhibits apoptosis. 1999, Pubmed
Matsumoto, Assignment of the human GLI2 gene to 2q14 by fluorescence in situ hybridization. 1996, Pubmed
McGarvey, PTCH gene mutations in invasive transitional cell carcinoma of the bladder. 1998, Pubmed , Xenbase
Méthot, Hedgehog controls limb development by regulating the activities of distinct transcriptional activator and repressor forms of Cubitus interruptus. 1999, Pubmed
Miller, Tumors in Rubinstein-Taybi syndrome. 1995, Pubmed
Murone, Sonic hedgehog signaling by the patched-smoothened receptor complex. 1999, Pubmed
Nanni, The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. 1999, Pubmed
Odent, Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. 1999, Pubmed
Park, Mouse Gli1 mutants are viable but have defects in SHH signaling in combination with a Gli2 mutation. 2000, Pubmed , Xenbase
Pavletich, Crystal structure of a five-finger GLI-DNA complex: new perspectives on zinc fingers. 1993, Pubmed
Pepinsky, Identification of a palmitic acid-modified form of human Sonic hedgehog. 1998, Pubmed
Petrij, Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. 1995, Pubmed
Radhakrishna, The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. 1999, Pubmed , Xenbase
Radhakrishna, Mutation in GLI3 in postaxial polydactyly type A. 1997, Pubmed , Xenbase
Robbins, Hedgehog elicits signal transduction by means of a large complex containing the kinesin-related protein costal2. 1997, Pubmed
Roberts, Amplification of the gli gene in childhood sarcomas. 1989, Pubmed
Roessler, Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly. 1997, Pubmed
Roessler, Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. 1996, Pubmed
Rubinstein, Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988. 1990, Pubmed
Ruiz i Altaba, Combinatorial Gli gene function in floor plate and neuronal inductions by Sonic hedgehog. 1998, Pubmed , Xenbase
Ruiz i Altaba, Gli proteins encode context-dependent positive and negative functions: implications for development and disease. 1999, Pubmed , Xenbase
Ruppert, GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity. 1990, Pubmed , Xenbase
Ruppert, The GLI-Kruppel family of human genes. 1988, Pubmed
Ruppert, The zinc finger protein GLI transforms primary cells in cooperation with adenovirus E1A. 1991, Pubmed
Sasaki, Regulation of Gli2 and Gli3 activities by an amino-terminal repression domain: implication of Gli2 and Gli3 as primary mediators of Shh signaling. 1999, Pubmed , Xenbase
Sasaki, A binding site for Gli proteins is essential for HNF-3beta floor plate enhancer activity in transgenics and can respond to Shh in vitro. 1997, Pubmed , Xenbase
Shin, GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization. 1999, Pubmed , Xenbase
Sisson, Costal2, a novel kinesin-related protein in the Hedgehog signaling pathway. 1997, Pubmed
Smyth, Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32. 1999, Pubmed
Stein, GLI gene expression in bone and soft tissue sarcomas of adult patients correlates with tumor grade. 1999, Pubmed
Stone, Characterization of the human suppressor of fused, a negative regulator of the zinc-finger transcription factor Gli. 1999, Pubmed
Stone, The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog. 1996, Pubmed
Sukegawa, The concentric structure of the developing gut is regulated by Sonic hedgehog derived from endodermal epithelium. 2000, Pubmed
Tanimura, Cloning of novel isoforms of the human Gli2 oncogene and their activities to enhance tax-dependent transcription of the human T-cell leukemia virus type 1 genome. 1998, Pubmed
Tint, Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. 1994, Pubmed
von Mering, Distinct and regulated activities of human Gli proteins in Drosophila. 1999, Pubmed , Xenbase
Vorechovský, Trichoepitheliomas contain somatic mutations in the overexpressed PTCH gene: support for a gatekeeper mechanism in skin tumorigenesis. 1997, Pubmed
Vortkamp, Identification of optimized target sequences for the GLI3 zinc finger protein. 1995, Pubmed , Xenbase
Vortkamp, GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. 1991, Pubmed , Xenbase
Walterhouse, gli, a zinc finger transcription factor and oncogene, is expressed during normal mouse development. 1993, Pubmed
Wang, Hedgehog-regulated processing of Gli3 produces an anterior/posterior repressor gradient in the developing vertebrate limb. 2000, Pubmed , Xenbase
Werner, High-level DNA amplifications are common genetic aberrations in B-cell neoplasms. 1997, Pubmed
Wild, Point mutations in human GLI3 cause Greig syndrome. 1997, Pubmed , Xenbase
Williams, Functional antagonists of sonic hedgehog reveal the importance of the N terminus for activity. 1999, Pubmed
Xie, Activating Smoothened mutations in sporadic basal-cell carcinoma. 1998, Pubmed
Yang, Expression of human GLI in mice results in failure to thrive, early death, and patchy Hirschsprung-like gastrointestinal dilatation. 1997, Pubmed
Yoon, GLI activates transcription through a herpes simplex viral protein 16-like activation domain. 1998, Pubmed