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TNNT3 gene
Known as:
troponin-T3, skeletal, fast
, DKFZp779M2348
, DA2B
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National Institutes of Health
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Related topics
Related topics
3 relations
ARTHROGRYPOSIS, DISTAL, TYPE 2B
TNNI2 gene
Troponin
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.
Wenbo Wang
,
L. Kong
,
Rong-tai Zuo
,
Q. Kang
Molecular Medicine Reports
2019
Corpus ID: 208186856
Distal arthrogryposis (DA) type 2B (DA2B) is an autosomal dominant congenital disorder, characterized by camptodactyly, thumb…
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2018
2018
Troponin T3 associates with DNA consensus sequence that overlaps with p53 binding motifs
Y. N. Lopez
,
M. L. Messi
,
R. Pratley
,
Tan Zhang
,
O. Delbono
Experimental Gerontology
2018
Corpus ID: 5046941
2014
2014
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis
Sarah B. Daly
,
H. Shah
,
+8 authors
K. Girisha
Molecular Syndromology
2014
Corpus ID: 207733320
Distal arthrogryposis (DA) is a group of rare, clinically and genetically heterogeneous disorders primarily characterized by…
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2013
2013
A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.
Xue-fu Li
,
M. Jiang
,
+5 authors
Jianxin Li
Gene
2013
Corpus ID: 25121362
Highly Cited
2013
Highly Cited
2013
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B
A. Beck
,
M. McMillin
,
+5 authors
M. Bamshad
American Journal of Medical Genetics. Part A
2013
Corpus ID: 45433706
The distal arthrogryposis (DA) syndromes are a group of disorders characterized by non‐progressive congenital contractures of the…
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2011
2011
A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.
N. Zhao
,
M. Jiang
,
+5 authors
Jianxin Li
European Journal of Medical Genetics
2011
Corpus ID: 22972065
Highly Cited
2003
Highly Cited
2003
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B.
Sandy S Sung
,
Anna-Marie E Brassington
,
P. Krakowiak
,
J. Carey
,
L. Jorde
,
M. Bamshad
American Journal of Human Genetics
2003
Corpus ID: 19669156
To the Editor: We recently reported that distal arthrogryposis type 1 (DA1 [MIM 108120]) and distal arthrogryposis type 2B…
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2000
2000
Structure elucidation and antifungal activity of an anthracycline antibiotic, daunomycin, isolated from Actinomadura roseola.
Beom Seok Kim
,
S. Moon
,
Byung Kook Hwang
Journal of Agricultural and Food Chemistry
2000
Corpus ID: 29444251
The actinomycete strain Ao108 producing antifungal metabolites active against some plant pathogenic fungi was identified as…
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Highly Cited
1997
Highly Cited
1997
A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter.
P. Krakowiak
,
J. R. O'Quinn
,
+4 authors
M. Bamshad
American Journal of Human Genetics
1997
Corpus ID: 39735710
Distal arthrogryposis type 1 (DA1) and Freeman-Sheldon syndrome (FSS) are the two most common known causes of inherited multiple…
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1997
1997
Localization of the fast skeletal muscle troponin I gene (TNNI2) to 11p15.5: genes for troponin I and T are organized in pairs
P. Barton
,
P. Townsend
,
N. Brand
,
M. Yacoub
Annals of Human Genetics
1997
Corpus ID: 10590350
We have localized the gene encoding the fast skeletal muscle isoform of troponin I (TNNI2) to 11p15.5 by PCR‐based analysis of…
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