Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1
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BrachydactylyThe FU gene and its possible protein isoformsMutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levelsThe structure of SHH in complex with HHIP reveals a recognition role for the Shh pseudo active site in signalingLoss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signalingHomozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.The life cycle of chondrocytes in the developing skeleton.The Hedgehog signalling pathway in bone formationIs there a role for the IHH gene in Hirschsprung's disease?Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndromeReceptor tyrosine kinase-like orphan receptor 2 (ROR2) and Indian hedgehog regulate digit outgrowth mediated by the phalanx-forming regionLoss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signalingA gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2.Genetic disorders of the skeleton: a developmental approachIndian hedgehog signaling regulates transcription and expression of collagen type X via Runx2/Smads interactions.Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian HedgehogMammalian evolution. Evolutionary development in basal mammaliaforms as revealed by a docodontan.Molecular-pathogenetic classification of genetic disorders of the skeleton.Digital development and morphogenesis.Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2).The Hedgehog signaling pathway--implications for drug targets in cancer and neurodegenerative disorders.Signaling domain of Sonic Hedgehog as cannibalistic calcium-regulated zinc-peptidaseHedgehog signaling in hematopoiesis.Answering a century old riddle: brachydactyly type A1.A large duplication involving the IHH locus mimics acrocallosal syndrome.Identification of disease genes by whole genome CGH arrays.A review of hedgehog signaling in cranial bone developmentAnalysis of phenotype-genotype connection: the story of dissecting disease pathogenesis in genomic era in China, and beyond.A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.Deletion of Indian hedgehog gene causes dominant semi-lethal Creeper trait in chickenDuplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.Brachy-syndactyly caused by loss of Sfrp2 functionLeucine restriction inhibits chondrocyte proliferation and differentiation through mechanisms both dependent and independent of mTOR signalingThe mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.Disorders of the growth plate.Interactions between Hedgehog proteins and their binding partners come into view.Mechanisms of digit formation: Human malformation syndromes tell the story.Toward a systems-level understanding of the Hedgehog signaling pathway: defining the complex, robust, and fragile.Embryology of familial (non-syndromic) brachydactyly of the hand.
P2860
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P2860
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1
description
2001 nî lūn-bûn
@nan
2001 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1
@ast
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1
@en
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1
@nl
type
label
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1
@ast
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1
@en
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1
@nl
prefLabel
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1
@ast
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1
@en
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1
@nl
P2093
P3181
P356
P1433
P1476
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1
@en
P2093
P2888
P3181
P356
10.1038/NG577
P407
P50
P577
2001-08-01T00:00:00Z