A mutation in TGFB 3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys–dietz syndrome-Reference-Cited by-同舟云学术

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A mutation in TGFB 3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys–dietz syndrome

Published:2013-07-03 Issue:8 Volume:161 Page:2040-2046
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Rienhoff Hugh Young¹,Yeo Chang‐Yeol²,Morissette Rachel³,Khrebtukova Irina⁴,Melnick Jonathan⁵,Luo Shujun⁴,Leng Nan⁴,Kim Yeon‐Jin²,Schroth Gary⁴,Westwick John⁵,Vogel Hannes⁶,McDonnell Nazli³,Hall Judith G.⁷,Whitman Malcolm⁸

Affiliation:

1. Children's Hospital Oakland Research InstituteOaklandCalifornia

2. Department of Life SciencesEwha Women's UniversitySeoulRepublic of Korea

3. National Institute on AgingNIHBaltimoreMaryland

4. Illumina, Inc.HaywardCalifornia

5. Odyssey Thera, Inc.San RamonCalifornia

6. Department of PathologyStanford University Medical SchoolStanfordCalifornia

7. Department of Medical GeneticsUniversity of British ColumbiaVancouverBritish ColumbiaCanada

8. Department of Developmental BiologyHarvard School of Dental MedicineBostonMassachusetts

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.36056

Reference23 articles.

1. Myostatin imposes reversible quiescence on embryonic muscle precursors

2. Site-directed mutagenesis of glycosylation sites in the transforming growth factor-beta 1 (TGF beta 1) and TGF beta 2 (414) precursors and of cysteine residues within mature TGF beta 1: effects on secretion and bioactivity

3. Angiotensin II type 1 receptor blockade attenuates TGF-β–induced failure of muscle regeneration in multiple myopathic states

4. Transforming Growth Factor β-Induced Smad1/5 Phosphorylation in Epithelial Cells Is Mediated by Novel Receptor Complexes and Is Essential for Anchorage-Independent Growth

5. Crystal Structure of Transforming Growth Factor-β2: an Unusual Fold for the Superfamily

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