Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling-Reference-Cited by-同舟云学术

Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling

Published:2010-12 Issue:6 Volume:87 Page:768-778
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Tian Jing,Ling Ling,Shboul Mohammad,Lee Hane,O'Connor Brian,Merriman Barry,Nelson Stanley F.,Cool Simon,Ababneh Osama H.,Al-Hadidy Azmy,Masri Amira,Hamamy Hanan,Reversade Bruno

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference33 articles.

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3. Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2;Seemann;J. Clin. Invest.,2005

4. Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2;Dathe;Am. J. Hum. Genet.,2009

5. Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2;Lehmann;Proc. Natl. Acad. Sci. USA,2003

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