Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels

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Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus.

Brachydactyly (BD) is a term used to describe inherited anomalies of the hands generally characterised by shortened phalanges or metacarpals. Initially, the brachydactylies were grouped into five different classes (A-E), with three subtypes of A. Later work revised and extended the classification of BD. 3 In type A, shortening is primarily confined to the middle phalanges. Subtype A1 (BDA1, OMI...

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Hedgehog (Hh) proteins are one of a small number of families of secreted signalling proteins that are responsible for cell interactions during development in many animals. As such, Hh signals produce many different responses at different times and in different cells. As for other multifunctional ligands, this requires regulated patterns of expression, special mechanisms for ligand movement betw...

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ژورنال

عنوان ژورنال: Cell Research

سال: 2011

ISSN: 1001-0602,1748-7838

DOI: 10.1038/cr.2011.76