Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling (Q24311638)

negative regulation of ossification

GOA release 2020-03-11

1 reference

Chondroitin sulfate synthase 1

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

7

Stanley F Nelson

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author name string

Jing Tian

1

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Ling Ling

2

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Mohammad Shboul

3

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Hane Lee

4

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Brian O'Connor

5

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Barry Merriman

6

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Simon Cool

8

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Osama H Ababneh

9

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Azmy Al-Hadidy

10

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Amira Masri

11

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Hanan Hamamy

12

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Bruno Reversade

American Journal of Human Genetics

13

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language of work or name

English

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publication date

10 December 2010

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published in

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volume

87

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issue

6

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page(s)

768-78

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cites work

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Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

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Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

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Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

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A family of mammalian Fringe genes implicated in boundary determination and the Notch pathway

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Notch1 and 2 cooperate in limb ectoderm to receive an early Jagged2 signal regulating interdigital apoptosis

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Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1

19 March 2017

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Deletion and point mutations of PTHLH cause brachydactyly type E.

19 March 2017

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Notch pathway regulation of chondrocyte differentiation and proliferation during appendicular and axial skeleton development.

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Heparan sulphate proteoglycans: the sweet side of development

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Modulation of notch processing by gamma-secretase inhibitors causes intestinal goblet cell metaplasia and induction of genes known to specify gut secretory lineage differentiation

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29 November 2018

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release_3wu34lzgorayzbtaee45ntrqfi

3279482

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mapped directly with Wikidata item

24 November 2022

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3279482

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