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 *

113 related articles for article (PubMed ID: 15083169)

  • 1. Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family.
    Novelli A; Valente EM; Bernardini L; Ceccarini C; Sinibaldi L; Caputo V; Cavalli P; Dallapiccola B
    Eur J Hum Genet; 2004 Jul; 12(7):579-83. PubMed ID: 15083169
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease.
    Odermatt A; Barton K; Khanna VK; Mathieu J; Escolar D; Kuntzer T; Karpati G; MacLennan DH
    Hum Genet; 2000 May; 106(5):482-91. PubMed ID: 10914677
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease.
    Odermatt A; Taschner PE; Khanna VK; Busch HF; Karpati G; Jablecki CK; Breuning MH; MacLennan DH
    Nat Genet; 1996 Oct; 14(2):191-4. PubMed ID: 8841193
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease.
    Odermatt A; Taschner PE; Scherer SW; Beatty B; Khanna VK; Cornblath DR; Chaudhry V; Yee WC; Schrank B; Karpati G; Breuning MH; Knoers N; MacLennan DH
    Genomics; 1997 Nov; 45(3):541-53. PubMed ID: 9367679
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Characterization of cDNA and genomic DNA encoding SERCA1, the Ca(2+)-ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease.
    Zhang Y; Fujii J; Phillips MS; Chen HS; Karpati G; Yee WC; Schrank B; Cornblath DR; Boylan KB; MacLennan DH
    Genomics; 1995 Dec; 30(3):415-24. PubMed ID: 8825625
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
    Molenaar JP; Verhoeven JI; Rodenburg RJ; Kamsteeg EJ; Erasmus CE; Vicart S; Behin A; Bassez G; Magot A; Péréon Y; Brandom BW; Guglielmi V; Vattemi G; Chevessier F; Mathieu J; Franques J; Suetterlin K; Hanna MG; Guyant-Marechal L; Snoeck MM; Roberts ME; Kuntzer T; Fernandez-Torron R; Martínez-Arroyo A; Seeger J; Kusters B; Treves S; van Engelen BG; Eymard B; Voermans NC; Sternberg D
    Brain; 2020 Feb; 143(2):452-466. PubMed ID: 32040565
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Targeted disruption of the ATP2A1 gene encoding the sarco(endo)plasmic reticulum Ca2+ ATPase isoform 1 (SERCA1) impairs diaphragm function and is lethal in neonatal mice.
    Pan Y; Zvaritch E; Tupling AR; Rice WJ; de Leon S; Rudnicki M; McKerlie C; Banwell BL; MacLennan DH
    J Biol Chem; 2003 Apr; 278(15):13367-75. PubMed ID: 12556521
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation.
    Vattemi G; Gualandi F; Oosterhof A; Marini M; Tonin P; Rimessi P; Neri M; Guglielmi V; Russignan A; Poli C; van Kuppevelt TH; Ferlini A; Tomelleri G
    J Neuropathol Exp Neurol; 2010 Mar; 69(3):246-52. PubMed ID: 20142766
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Tourette syndrome in a pedigree with a 7;18 translocation: identification of a YAC spanning the translocation breakpoint at 18q22.3.
    Boghosian-Sell L; Comings DE; Overhauser J
    Am J Hum Genet; 1996 Nov; 59(5):999-1005. PubMed ID: 8900226
    [TBL] [Abstract][Full Text] [Related]  

  • 10. SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers.
    Guglielmi V; Vattemi G; Gualandi F; Voermans NC; Marini M; Scotton C; Pegoraro E; Oosterhof A; Kósa M; Zádor E; Valente EM; De Grandis D; Neri M; Codemo V; Novelli A; van Kuppevelt TH; Dallapiccola B; van Engelen BG; Ferlini A; Tomelleri G
    Mol Genet Metab; 2013; 110(1-2):162-9. PubMed ID: 23911890
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot.
    Weimer J; Kiechle M; Wiedemann U; Tönnies H; Neitzel H; Ruhenstroth E; Ovens-Raeder A; Arnold N
    J Med Genet; 2000 Jun; 37(6):442-5. PubMed ID: 10851255
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Bipolar affective disorder partially cosegregates with a balanced t(9;11)(p24;q23.1) chromosomal translocation in a small pedigree.
    Baysal BE; Potkin SG; Farr JE; Higgins MJ; Korcz J; Gollin SM; James MR; Evans GA; Richard CW
    Am J Med Genet; 1998 Feb; 81(1):81-91. PubMed ID: 9514593
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients.
    Voermans NC; Laan AE; Oosterhof A; van Kuppevelt TH; Drost G; Lammens M; Kamsteeg EJ; Scotton C; Gualandi F; Guglielmi V; van den Heuvel L; Vattemi G; van Engelen BG
    Neuromuscul Disord; 2012 Nov; 22(11):944-54. PubMed ID: 22704959
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig.
    Johnson EW; Iyer LM; Rich SS; Orr HT; Gil-Nagel A; Kurth JH; Zabramski JM; Marchuk DA; Weissenbach J; Clericuzio CL; Davis LE; Hart BL; Gusella JF; Kosofsky BE; Louis DN; Morrison LA; Green ED; Weber JL
    Genome Res; 1995 Nov; 5(4):368-80. PubMed ID: 8750196
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Translocation breakpoint in two unrelated Tourette syndrome cases, within a region previously linked to the disorder.
    Crawford FC; Ait-Ghezala G; Morris M; Sutcliffe MJ; Hauser RA; Silver AA; Mullan MJ
    Hum Genet; 2003 Jul; 113(2):154-61. PubMed ID: 12698358
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease.
    Drögemüller C; Drögemüller M; Leeb T; Mascarello F; Testoni S; Rossi M; Gentile A; Damiani E; Sacchetto R
    Genomics; 2008 Dec; 92(6):474-7. PubMed ID: 18786632
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Atypical nuclear abnormalities in a patient with Brody disease.
    Mussini JM; Magot A; Hantaï D; Sternberg D; Chevessier F; Péréon Y
    Neuromuscul Disord; 2015 Oct; 25(10):773-9. PubMed ID: 26248958
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Structure/function analysis of the Ca2+ binding and translocation domain of SERCA1 and the role in Brody disease of the ATP2A1 gene encoding SERCA1.
    MacLennan DH; Rice WJ; Odermatt A
    Ann N Y Acad Sci; 1997 Nov; 834():175-85. PubMed ID: 9405806
    [No Abstract]   [Full Text] [Related]  

  • 19. Linkage analysis of candidate regions in Swedish nonsyndromic cleft lip with or without cleft palate families.
    Wong FK; Hagberg C; Karsten A; Larson O; Gustavsson M; Huggare J; Larsson C; Teh BT; Linder-Aronson S
    Cleft Palate Craniofac J; 2000 Jul; 37(4):357-62. PubMed ID: 10912714
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Structural study of skeletal muscle fibres in healthy and pseudomyotonia affected cattle.
    Mascarello F; Sacchetto R
    Ann Anat; 2016 Sep; 207():21-6. PubMed ID: 27210062
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.