A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children-Reference-Cited by-同舟云学术

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A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children

Published:2014-09-11 Issue:2 Volume:24 Page:516-524
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Fahiminiya Somayyeh,Al-Jallad Hadil,Majewski Jacek,Palomo Telma,Moffatt Pierre,Roschger Paul,Klaushofer Klaus,Glorieux Francis H.,Rauch Frank

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Reference49 articles.

1. New perspectives on osteogenesis imperfecta;Nat. Rev. Endocrinol.,2011

2. New genes in bone development: what's new in osteogenesis imperfecta;J. Clin. Endocrinol. Metab.,2013

3. Developmental roles of the BMP1/TLD metalloproteinases;Birth Defects Res. C Embryo Today,2006

4. Use of Bmp1/Tll1 doubly homozygous null mice and proteomics to identify and validate in vivo substrates of bone morphogenetic protein 1/tolloid-like metalloproteinases;Mol. Cell. Biol.,2003

5. Mammalian BMP-1/Tolloid-related metalloproteinases, including novel family member mammalian Tolloid-like 2, have differential enzymatic activities and distributions of expression relevant to patterning and skeletogenesis;Dev. Biol.,1999

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