相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H)
Hirokazu Furuya et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Fibrodysplasia ossificans progressiva
Frederick S. Kaplan et al.
BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY (2008)
Proximal tibial osteochondromas in patients with fibrodysplasia ossificans progressiva
Gregory K. Deirmengian et al.
JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME (2008)
Early diagnosis of fibrodysplasia ossificans progressiva
Frederick S. Kaplan et al.
PEDIATRICS (2008)
The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva
Masahiro Nakajima et al.
JOURNAL OF HUMAN GENETICS (2007)
Functional Modeling of the ACVR1 (R206H) mutation in FOP
Jay C. Groppe et al.
CLINICAL ORTHOPAEDICS AND RELATED RESEARCH (2007)
Immunophilins: for the love of proteins
S. Barik
CELLULAR AND MOLECULAR LIFE SCIENCES (2006)
FKBP12 functions as an adaptor of the Smad7-Smurf1 complex on activin type 1 receptor
T. Yamaguchi et al.
JOURNAL OF MOLECULAR ENDOCRINOLOGY (2006)
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva
EM Shore et al.
NATURE GENETICS (2006)
De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva
Gau-Tyan Lin et al.
JOURNAL OF HUMAN GENETICS (2006)
Mechanism of osteogenic induction by FK506 via BMP/Smad pathways
F Kugimiya et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2005)
The Fibrodysplasia Ossificans Progressiva Lesion
Robert J. Pignolo et al.
CLINICAL REVIEWS IN BONE AND MINERAL METABOLISM (2005)
The Genetics of Fibrodysplasia Ossificans Progressiva
Eileen M. Shore et al.
CLINICAL REVIEWS IN BONE AND MINERAL METABOLISM (2005)
Three Pairs of Monozygotic Twins With Fibrodysplasia Ossificans Progressiva The Role of Environment in the Progression of Heterotopic Ossification
Nader Hebela et al.
CLINICAL REVIEWS IN BONE AND MINERAL METABOLISM (2005)
Heterotopic ossification
FS Kaplan et al.
JOURNAL OF THE AMERICAN ACADEMY OF ORTHOPAEDIC SURGEONS (2004)
The immunophilin FKBP12: A molecular guardian of the TGF-beta family type I receptors
TW Wang et al.
FRONTIERS IN BIOSCIENCE-LANDMARK (2004)
New insights into TGF-β-Smad signalling
P ten Dijke et al.
TRENDS IN BIOCHEMICAL SCIENCES (2004)
SWISS-MODEL: an automated protein homology-modeling server
T Schwede et al.
NUCLEIC ACIDS RESEARCH (2003)
SIFT: predicting amino acid changes that affect protein function
PC Ng et al.
NUCLEIC ACIDS RESEARCH (2003)
Mechanisms of TGF-β signaling from cell membrane to the nucleus
YG Shi et al.
CELL (2003)
Human non-synonymous SNPs: server and survey
V Ramensky et al.
NUCLEIC ACIDS RESEARCH (2002)
Accounting for human polymorphisms predicted to affect protein function
PC Ng et al.
GENOME RESEARCH (2002)
The TGFβ receptor activation process:: An inhibitor- to substrate-binding switch
M Huse et al.
MOLECULAR CELL (2001)
Prediction of deleterious human alleles
S Sunyaev et al.
HUMAN MOLECULAR GENETICS (2001)