Literature DB >> 7663526

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1.

N G Laing, S D Wilton, P A Akkari, S Dorosz, K Boundy, C Kneebone, P Blumbergs, S White, H Watkins, D R Love.   

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Year:  1995        PMID： 7663526     DOI： 10.1038/ng0695-249

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  25 in total

1.  Localization of the binding interface between leiomodin-2 and α-tropomyosin.

Authors:  Mert Colpan; Dmitri Tolkatchev; Samantha Grover; Gregory L Helms; John R Cort; Natalia Moroz; Alla S Kostyukova
Journal:  Biochim Biophys Acta       Date:  2016-02-09

2.  p0071, a member of the armadillo multigene family, is a constituent of sarcomeric I-bands in human skeletal muscle.

Authors:  R Schröder; P F van der Ven; I Warlo; H Schumann; D O Fürst; I Blümcke; M C Schmidt; M Hatzfeld
Journal:  J Muscle Res Cell Motil       Date:  2000       Impact factor: 2.698

3.  Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.

Authors:  Satoko Miyatake; Satomi Mitsuhashi; Yukiko K Hayashi; Enkhsaikhan Purevjav; Atsuko Nishikawa; Eriko Koshimizu; Mikiya Suzuki; Kana Yatabe; Yuzo Tanaka; Katsuhisa Ogata; Satoshi Kuru; Masaaki Shiina; Yoshinori Tsurusaki; Mitsuko Nakashima; Takeshi Mizuguchi; Noriko Miyake; Hirotomo Saitsu; Kazuhiro Ogata; Mitsuru Kawai; Jeffrey Towbin; Ikuya Nonaka; Ichizo Nishino; Naomichi Matsumoto
Journal:  Am J Hum Genet       Date:  2016-12-22       Impact factor: 11.025

4.  Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm.

Authors:  Nelson LopezJimenez; Simon Gerber; Vlad Popovici; Sonia Mirza; Kirsten Copren; Linda Ta; Gary M Shaw; Beat Trueb; Anne M Slavotinek
Journal:  Hum Genet       Date:  2009-12-19       Impact factor: 4.132

5.  Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain- or loss-of-function.

Authors:  Massimiliano Memo; Steven Marston
Journal:  J Muscle Res Cell Motil       Date:  2013-05-30       Impact factor: 2.698

6.  KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy.

Authors:  Ankit Garg; Jason O'Rourke; Chengzu Long; Jonathan Doering; Gianina Ravenscroft; Svetlana Bezprozvannaya; Benjamin R Nelson; Nadine Beetz; Lin Li; She Chen; Nigel G Laing; Robert W Grange; Rhonda Bassel-Duby; Eric N Olson
Journal:  J Clin Invest       Date:  2014-06-24       Impact factor: 14.808

7.  Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal period.

Authors:  K Crawford; R Flick; L Close; D Shelly; R Paul; K Bove; A Kumar; J Lessard
Journal:  Mol Cell Biol       Date:  2002-08       Impact factor: 4.272

8.  Myofilament lattice structure in presence of a skeletal myopathy-related tropomyosin mutation.

Authors:  Julien Ochala; Hiroyuki Iwamoto
Journal:  J Muscle Res Cell Motil       Date:  2013-05-18       Impact factor: 2.698

Review 9.  Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction.

Authors:  Julien Ochala
Journal:  J Mol Med (Berl)       Date:  2008-06-24       Impact factor: 4.599

10.  Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation.

Authors:  Julien Ochala; Meishan Li; Monica Ohlsson; Anders Oldfors; Lars Larsson
Journal:  J Physiol       Date:  2008-04-17       Impact factor: 5.182
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