Literature DB >> 12865991

Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B.

Sandy S Sung, Anna-Marie E Brassington, Patrycja A Krakowiak, John C Carey, Lynn B Jorde, Michael Bamshad.   

Abstract

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Year:  2003        PMID： 12865991      PMCID： PMC1180583          DOI： 10.1086/376418

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  8 in total

1.  Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.

Authors:  T Palm; S Graboski; S E Hitchcock-DeGregori; N J Greenfield
Journal:  Biophys J       Date:  2001-11       Impact factor: 4.033

Review 2.  Striated muscle cytoarchitecture: an intricate web of form and function.

Authors:  Kathleen A Clark; Abigail S McElhinny; Mary C Beckerle; Carol C Gregorio
Journal:  Annu Rev Cell Dev Biol       Date:  2002-04-02       Impact factor: 13.827

Review 3.  A revised and extended classification of the distal arthrogryposes.

Authors:  M Bamshad; L B Jorde; J C Carey
Journal:  Am J Med Genet       Date:  1996-11-11

4.  A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter.

Authors:  P A Krakowiak; J R O'Quinn; J F Bohnsack; W S Watkins; J C Carey; L B Jorde; M Bamshad
Journal:  Am J Hum Genet       Date:  1997-02       Impact factor: 11.025

5.  Folding and function of the troponin tail domain. Effects of cardiomyopathic troponin T mutations.

Authors:  Ashley Hinkle; Larry S Tobacman
Journal:  J Biol Chem       Date:  2002-10-29       Impact factor: 5.157

6.  A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.

Authors:  A Varnava; C Baboonian; F Davison; L de Cruz; P M Elliott; M J Davies; W J McKenna
Journal:  Heart       Date:  1999-11       Impact factor: 5.994

7.  Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.

Authors:  Sandy S Sung; Anna-Marie E Brassington; Kathryn Grannatt; Ann Rutherford; Frank G Whitby; Patrycja A Krakowiak; Lynn B Jorde; John C Carey; Mike Bamshad
Journal:  Am J Hum Genet       Date:  2003-03       Impact factor: 11.025

8.  Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.

Authors:  H Watkins; W J McKenna; L Thierfelder; H J Suk; R Anan; A O'Donoghue; P Spirito; A Matsumori; C S Moravec; J G Seidman
Journal:  N Engl J Med       Date:  1995-04-20       Impact factor: 91.245
  8 in total
  46 in total

1.  Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.

Authors:  Katelyn S Weymouth; Susan H Blanton; Michael J Bamshad; Anita E Beck; Christine Alvarez; Steve Richards; Christina A Gurnett; Matthew B Dobbs; Douglas Barnes; Laura E Mitchell; Jacqueline T Hecht
Journal:  Am J Med Genet A       Date:  2011-08-10       Impact factor: 2.802

Review 2.  Update on clubfoot: etiology and treatment.

Authors:  Matthew B Dobbs; Christina A Gurnett
Journal:  Clin Orthop Relat Res       Date:  2009-02-18       Impact factor: 4.176

3.  Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.

Authors:  Christina A Gurnett; David M Desruisseau; Kevin McCall; Ryan Choi; Zachary I Meyer; Michael Talerico; Sara E Miller; Jeong-Sun Ju; Alan Pestronk; Anne M Connolly; Todd E Druley; Conrad C Weihl; Mathew B Dobbs
Journal:  Hum Mol Genet       Date:  2010-01-02       Impact factor: 6.150

Review 4.  Arthrogryposis: a review and update.

Authors:  Michael Bamshad; Ann E Van Heest; David Pleasure
Journal:  J Bone Joint Surg Am       Date:  2009-07       Impact factor: 5.284

Review 5.  Targeting the sarcomere to correct muscle function.

Authors:  Peter M Hwang; Brian D Sykes
Journal:  Nat Rev Drug Discov       Date:  2015-04-17       Impact factor: 84.694

Review 6.  Arthrogryposis multiplex congenita: classification, diagnosis, perioperative care, and anesthesia.

Authors:  Lulu Ma; Xuerong Yu
Journal:  Front Med       Date:  2017-03-02       Impact factor: 4.592

7.  Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.

Authors:  Yavuz Bayram; Ender Karaca; Zeynep Coban Akdemir; Elif Ozdamar Yilmaz; Gulsen Akay Tayfun; Hatip Aydin; Deniz Torun; Sevcan Tug Bozdogan; Alper Gezdirici; Sedat Isikay; Mehmed M Atik; Tomasz Gambin; Tamar Harel; Ayman W El-Hattab; Wu-Lin Charng; Davut Pehlivan; Shalini N Jhangiani; Donna M Muzny; Ali Karaman; Tamer Celik; Ozge Ozalp Yuregir; Timur Yildirim; Ilhan A Bayhan; Eric Boerwinkle; Richard A Gibbs; Nursel Elcioglu; Beyhan Tuysuz; James R Lupski
Journal:  J Clin Invest       Date:  2016-01-11       Impact factor: 14.808

8.  Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.

Authors:  Christina A Gurnett; Farhang Alaee; David Desruisseau; Stephanie Boehm; Matthew B Dobbs
Journal:  Clin Orthop Relat Res       Date:  2009-01-14       Impact factor: 4.176

Review 9.  Sheldon-Hall syndrome.

Authors:  Reha M Toydemir; Michael J Bamshad
Journal:  Orphanet J Rare Dis       Date:  2009-03-23       Impact factor: 4.123

10.  Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report.

Authors:  Zoran S Gucev; Nada Pop-Jordanova; Gordana Dumalovska; Orhideja Stomnaroska; Gorgji Zafirovski; Velibor B Tasic
Journal:  Cases J       Date:  2009-12-30
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