Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. - Test2 - elhamkhani - TriplyDB

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

http://www.wikidata.org/entity/Q47939552

about

The Greig cephalopolysyndactyly syndrome Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I The sonic hedgehog-patched-gli pathway in human development and disease Mediator modulates Gli3-dependent Sonic hedgehog signaling A potential role of alternative splicing in the regulation of the transcriptional activity of human GLI2 in gonadal tissues.Cooperative E-box regulation of human GLI1 by TWIST and USF Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domains Characterization of Glis2, a novel gene encoding a Gli-related, Krüppel-like transcription factor with transactivation and repressor functions. Roles in kidney development and neurogenesis A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy GLIS3, a novel member of the GLIS subfamily of Krüppel-like zinc finger proteins with repressor and activation functions Identification of Glis1, a novel Gli-related, Kruppel-like zinc finger protein containing transactivation and repressor functions Human GLI3 intragenic conserved non-coding sequences are tissue-specific enhancers.Point mutations in GLI3 lead to misregulation of its subcellular localization.Human intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb development Role of FGFR2-signaling in the pathogenesis of acne.Acromelia-oligodontia syndrome.Gli genes in development and cancer.Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations The VACTERL association: lessons from the Sonic hedgehog pathway.SALL1 mutations in Townes-Brocks syndrome and related disorders.Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.The developmental program of the hypothalamus and its disorders.Molecular-pathogenetic classification of genetic disorders of the skeleton.New insights into genotype-phenotype correlation for GLI3 mutations.The transcriptional repressor domain of Gli3 is intrinsically disordered Genetically altered mouse models: the good, the bad, and the ugly.The Hedgehog signaling pathway--implications for drug targets in cancer and neurodegenerative disorders.Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly.Primary cilia in neurodevelopmental disorders.Pallister-Hall syndrome has gone the way of modern medical genetics.Genome-wide association study of language performance in Alzheimer's disease.GLI3-related polydactyly: a review.Sonic Hedgehog Signaling in Limb Development In vitro screening of embryos by whole-genome sequencing: now, in the future or never?A novel Gli3 enhancer controls the Gli3 spatiotemporal expression pattern through a TALE homeodomain protein binding site Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes.Cis-regulatory underpinnings of human GLI3 expression in embryonic craniofacial structures and internal organs.Genetic Testing in a Cohort of Complex Esophageal Atresia.A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.

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P2860

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

http://www.wikidata.org/entity/Q47939552

description

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name

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

@en

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

@nl

type

label

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

@en

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

@nl

prefLabel

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

@en

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

@nl

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A Herzog

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P2860

Sonic Hedgehog-induced activation of the Gli1 promoter is mediated by GLI3

GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization

Crystal structure of a five-finger GLI-DNA complex: new perspectives on zinc fingers

GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity

Mutation in GLI3 in postaxial polydactyly type A

Suppressor of fused links fused and Cubitus interruptus on the hedgehog signalling pathway

Protein kinase recognition sequence motifs

Transcription activation by the adenovirus E1a protein

Functional dissection of VP16, the trans-activator of herpes simplex virus immediate early gene expression.

Protein kinase A directly regulates the activity and proteolysis of cubitus interruptus.

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