These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

180 related articles for article (PubMed ID: 23378224)

  • 1. K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.
    Mokbel N; Ilkovski B; Kreissl M; Memo M; Jeffries CM; Marttila M; Lehtokari VL; Lemola E; Grönholm M; Yang N; Menard D; Marcorelles P; Echaniz-Laguna A; Reimann J; Vainzof M; Monnier N; Ravenscroft G; McNamara E; Nowak KJ; Laing NG; Wallgren-Pettersson C; Trewhella J; Marston S; Ottenheijm C; North KN; Clarke NF
    Brain; 2013 Feb; 136(Pt 2):494-507. PubMed ID: 23378224
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
    Davidson AE; Siddiqui FM; Lopez MA; Lunt P; Carlson HA; Moore BE; Love S; Born DE; Roper H; Majumdar A; Jayadev S; Underhill HR; Smith CO; von der Hagen M; Hubner A; Jardine P; Merrison A; Curtis E; Cullup T; Jungbluth H; Cox MO; Winder TL; Abdel Salam H; Li JZ; Moore SA; Dowling JJ
    Brain; 2013 Feb; 136(Pt 2):508-21. PubMed ID: 23413262
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Myopathies associated with β-tropomyosin mutations.
    Tajsharghi H; Ohlsson M; Palm L; Oldfors A
    Neuromuscul Disord; 2012 Nov; 22(11):923-33. PubMed ID: 22749895
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The reason for the low Ca
    Avrova SV; Karpicheva OE; Rysev NA; Simonyan AO; Sirenko VV; Redwood CS; Borovikov YS
    Biochem Biophys Res Commun; 2018 Jul; 502(2):209-214. PubMed ID: 29792862
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.
    Donner K; Ollikainen M; Ridanpää M; Christen HJ; Goebel HH; de Visser M; Pelin K; Wallgren-Pettersson C
    Neuromuscul Disord; 2002 Feb; 12(2):151-8. PubMed ID: 11738357
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation.
    Moraczewska J; Greenfield NJ; Liu Y; Hitchcock-DeGregori SE
    Biophys J; 2000 Dec; 79(6):3217-25. PubMed ID: 11106625
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production.
    Michele DE; Albayya FP; Metzger JM
    J Clin Invest; 1999 Dec; 104(11):1575-81. PubMed ID: 10587521
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).
    Tajsharghi H; Ohlsson M; Lindberg C; Oldfors A
    Arch Neurol; 2007 Sep; 64(9):1334-8. PubMed ID: 17846275
    [TBL] [Abstract][Full Text] [Related]  

  • 9. De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy.
    Durling HJ; Reilich P; Müller-Höcker J; Mendel B; Pongratz D; Wallgren-Pettersson C; Gunning P; Lochmüller H; Laing NG
    Neuromuscul Disord; 2002 Dec; 12(10):947-51. PubMed ID: 12467750
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy.
    Marttila M; Lemola E; Wallefeld W; Memo M; Donner K; Laing NG; Marston S; Grönholm M; Wallgren-Pettersson C
    Biochem J; 2012 Feb; 442(1):231-9. PubMed ID: 22084935
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
    Marttila M; Lehtokari VL; Marston S; Nyman TA; Barnerias C; Beggs AH; Bertini E; Ceyhan-Birsoy O; Cintas P; Gerard M; Gilbert-Dussardier B; Hogue JS; Longman C; Eymard B; Frydman M; Kang PB; Klinge L; Kolski H; Lochmüller H; Magy L; Manel V; Mayer M; Mercuri E; North KN; Peudenier-Robert S; Pihko H; Probst FJ; Reisin R; Stewart W; Taratuto AL; de Visser M; Wilichowski E; Winer J; Nowak K; Laing NG; Winder TL; Monnier N; Clarke NF; Pelin K; Grönholm M; Wallgren-Pettersson C
    Hum Mutat; 2014 Jul; 35(7):779-90. PubMed ID: 24692096
    [TBL] [Abstract][Full Text] [Related]  

  • 12. An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.
    Corbett MA; Akkari PA; Domazetovska A; Cooper ST; North KN; Laing NG; Gunning PW; Hardeman EC
    Ann Neurol; 2005 Jan; 57(1):42-9. PubMed ID: 15562513
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.
    Ilkovski B; Mokbel N; Lewis RA; Walker K; Nowak KJ; Domazetovska A; Laing NG; Fowler VM; North KN; Cooper ST
    J Neuropathol Exp Neurol; 2008 Sep; 67(9):867-77. PubMed ID: 18716557
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy.
    Monnier N; Lunardi J; Marty I; Mezin P; Labarre-Vila A; Dieterich K; Jouk PS
    Neuromuscul Disord; 2009 Feb; 19(2):118-23. PubMed ID: 19155175
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Establishment of a human induced pluripotent stem cell line (SDQLCHi004-A) from a patient with nemaline myopathy-4 disease carrying heterozygous mutation in TPM2 gene.
    Ma Y; Zhang H; Yang X; Li Y; Guan J; Lv Y; Li H; Liu Y; Gai Z
    Stem Cell Res; 2019 Oct; 40():101559. PubMed ID: 31526942
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.
    Gommans IM; Davis M; Saar K; Lammens M; Mastaglia F; Lamont P; van Duijnhoven G; ter Laak HJ; Reis A; Vogels OJ; Laing N; van Engelen BG; Kremer H
    Brain; 2003 Jul; 126(Pt 7):1545-51. PubMed ID: 12805120
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2.
    Lehtokari VL; Ceuterick-de Groote C; de Jonghe P; Marttila M; Laing NG; Pelin K; Wallgren-Pettersson C
    Neuromuscul Disord; 2007 Jun; 17(6):433-42. PubMed ID: 17434307
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures.
    Tasca G; Fattori F; Ricci E; Monforte M; Rizzo V; Mercuri E; Bertini E; Silvestri G
    Acta Neuropathol; 2013 Jan; 125(1):169-71. PubMed ID: 23015096
    [No Abstract]   [Full Text] [Related]  

  • 19. Autosomal dominant nemaline myopathy caused by a novel alpha-tropomyosin 3 mutation.
    Kiphuth IC; Krause S; Huttner HB; Dekomien G; Struffert T; Schröder R
    J Neurol; 2010 Apr; 257(4):658-60. PubMed ID: 20012312
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.
    Wallgren-Pettersson C; Jokela M; Lehtokari VL; Tyynismaa H; Sainio MT; Ylikallio E; Tynninen O; Pelin K; Auranen M
    Neuromuscul Disord; 2024 Feb; 35():29-32. PubMed ID: 38219297
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.