BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

255 related articles for article (PubMed ID: 20045868)

  • 1. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.
    Gurnett CA; Desruisseau DM; McCall K; Choi R; Meyer ZI; Talerico M; Miller SE; Ju JS; Pestronk A; Connolly AM; Druley TE; Weihl CC; Dobbs MB
    Hum Mol Genet; 2010 Apr; 19(7):1165-73. PubMed ID: 20045868
    [TBL] [Abstract][Full Text] [Related]  

  • 2. MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis.
    Ha K; Buchan JG; Alvarado DM; McCall K; Vydyanath A; Luther PK; Goldsmith MI; Dobbs MB; Gurnett CA
    Hum Mol Genet; 2013 Dec; 22(24):4967-77. PubMed ID: 23873045
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.
    Li X; Zhong B; Han W; Zhao N; Liu W; Sui Y; Wang Y; Lu Y; Wang H; Li J; Jiang M
    PLoS One; 2015; 10(2):e0117158. PubMed ID: 25679999
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.
    Li X; Jiang M; Han W; Zhao N; Liu W; Sui Y; Lu Y; Li J
    Gene; 2013 Sep; 527(2):630-5. PubMed ID: 23850728
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.
    Ekhilevitch N; Kurolap A; Oz-Levi D; Mory A; Hershkovitz T; Ast G; Mandel H; Baris HN
    Clin Genet; 2016 Jul; 90(1):84-9. PubMed ID: 26661508
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Drosophila myosin mutants model the disparate severity of type 1 and type 2B distal arthrogryposis and indicate an enhanced actin affinity mechanism.
    Guo Y; Kronert WA; Hsu KH; Huang A; Sarsoza F; Bell KM; Suggs JA; Swank DM; Bernstein SI
    Skelet Muscle; 2020 Aug; 10(1):24. PubMed ID: 32799913
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.
    Markus B; Narkis G; Landau D; Birk RZ; Cohen I; Birk OS
    Hum Mutat; 2012 Oct; 33(10):1435-8. PubMed ID: 22610851
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
    Shashi V; Geist J; Lee Y; Yoo Y; Shin U; Schoch K; Sullivan J; Stong N; Smith E; Jasien J; Kranz P; ; Lee Y; Shin YB; Wright NT; Choi M; Kontrogianni-Konstantopoulos A
    Hum Mutat; 2019 Aug; 40(8):1115-1126. PubMed ID: 31264822
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow.
    Ackermann MA; Patel PD; Valenti J; Takagi Y; Homsher E; Sellers JR; Kontrogianni-Konstantopoulos A
    FASEB J; 2013 Aug; 27(8):3217-28. PubMed ID: 23657818
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.
    Zhao N; Jiang M; Han W; Bian C; Li X; Huang F; Kong Q; Li J
    Eur J Med Genet; 2011; 54(3):351-3. PubMed ID: 21402185
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Myosin Binding Protein-C Slow Phosphorylation is Altered in Duchenne Dystrophy and Arthrogryposis Myopathy in Fast-Twitch Skeletal Muscles.
    Ackermann MA; Ward CW; Gurnett C; Kontrogianni-Konstantopoulos A
    Sci Rep; 2015 Aug; 5():13235. PubMed ID: 26287277
    [TBL] [Abstract][Full Text] [Related]  

  • 12. MYBPC1, an Emerging Myopathic Gene: What We Know and What We Need to Learn.
    Geist J; Kontrogianni-Konstantopoulos A
    Front Physiol; 2016; 7():410. PubMed ID: 27683561
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A mutation of beta-tropomyosin gene in a Chinese family with distal arthrogryposis type I.
    Jin JY; Wu PF; Fan LL; Yu F; Li JJ; Fan XF; Huang H; Zeng L; Tang JY; Xiang R
    Int J Clin Exp Pathol; 2017; 10(11):11137-11142. PubMed ID: 31966463
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.
    Alvarado DM; Buchan JG; Gurnett CA; Dobbs MB
    J Bone Joint Surg Am; 2011 Jun; 93(11):1045-50. PubMed ID: 21531865
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.
    Gurnett CA; Alaee F; Desruisseau D; Boehm S; Dobbs MB
    Clin Orthop Relat Res; 2009 May; 467(5):1195-200. PubMed ID: 19142688
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.
    Beck AE; McMillin MJ; Gildersleeve HI; Kezele PR; Shively KM; Carey JC; Regnier M; Bamshad MJ
    Am J Med Genet A; 2013 Mar; 161A(3):550-5. PubMed ID: 23401156
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.
    Stavusis J; Lace B; Schäfer J; Geist J; Inashkina I; Kidere D; Pajusalu S; Wright NT; Saak A; Weinhold M; Haubenberger D; Jackson S; Kontrogianni-Konstantopoulos A; Bönnemann CG
    Ann Neurol; 2019 Jul; 86(1):129-142. PubMed ID: 31025394
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Heterogeneous Distribution of Genetic Mutations in Myosin Binding Protein-C Paralogs.
    Desai DA; Rao VJ; Jegga AG; Dhandapany PS; Sadayappan S
    Front Genet; 2022; 13():896117. PubMed ID: 35832193
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.
    Wang WB; Kong LC; Zuo RT; Kang QL
    Mol Med Rep; 2020 Jan; 21(1):438-444. PubMed ID: 31746383
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy.
    Meyer T; Pankuweit S; Richter A; Maisch B; Ruppert V
    Gene; 2013 Sep; 527(1):416-20. PubMed ID: 23816408
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.