Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog
about
All Mammalian Hedgehog Proteins Interact with Cell Adhesion Molecule, Down-regulated by Oncogenes (CDO) and Brother of CDO (BOC) in a Conserved MannerStructural insights into proteoglycan-shaped Hedgehog signalingLoss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome SequencingTwo novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.A review of hedgehog signaling in cranial bone developmentThe 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.Pseudo-active sites of protease domains: HGF/Met and Sonic hedgehog signaling in cancer.Interactions between Hedgehog proteins and their binding partners come into view.Missense mutations in IHH impair Indian Hedgehog signaling in C3H10T1/2 cells: Implications for brachydactyly type A1, and new targets for Hedgehog signaling.Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1.Brachdactyly Instigated as a Result of Mutation in GDF5 and NOG Genes in Pakistani Population.
P2860
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P2860
Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog
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2009 nî lūn-bûn
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2009 թուականի Մարտին հրատարակուած գիտական յօդուած
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2009 թվականի մարտին հրատարակված գիտական հոդված
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2009年の論文
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2009年論文
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2009年論文
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2009年論文
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2009年論文
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2009年論文
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2009年论文
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name
Brachydactyly A-1 mutations re ...... ve fragment of Indian Hedgehog
@ast
Brachydactyly A-1 mutations re ...... ve fragment of Indian Hedgehog
@en
Brachydactyly A-1 mutations re ...... ve fragment of Indian Hedgehog
@nl
type
label
Brachydactyly A-1 mutations re ...... ve fragment of Indian Hedgehog
@ast
Brachydactyly A-1 mutations re ...... ve fragment of Indian Hedgehog
@en
Brachydactyly A-1 mutations re ...... ve fragment of Indian Hedgehog
@nl
prefLabel
Brachydactyly A-1 mutations re ...... ve fragment of Indian Hedgehog
@ast
Brachydactyly A-1 mutations re ...... ve fragment of Indian Hedgehog
@en
Brachydactyly A-1 mutations re ...... ve fragment of Indian Hedgehog
@nl
P2093
P2860
P356
P1476
Brachydactyly A-1 mutations re ...... ve fragment of Indian Hedgehog
@en
P2093
Alexa Kidd
Allison Grimsey
Andrea C Kwan
Ashley M Byrnes
Louanne Hudgins
Michel Sangalli
Sarah M Nikkel
Yu-Lung Lau
Yuval Yaron
P2860
P2888
P304
P356
10.1038/EJHG.2009.18
P577
2009-03-11T00:00:00Z