Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35.

Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35.

The chromosomal localization of the gene for Thomsen disease, an autosomal dominant form of myotonia congenita, is unknown. Electrophysiologic data in Thomsen disease point to defects in muscle-membrane ion-channel function. A mouse model of myotonia congenita appears to result from transposon inact...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Abdalla, J, Casley, W, Cousin, H, Hudson, A, Murphy, E, Cornélis, F, Hashimoto, L, Ebers, G
Μορφή:	Journal article
Γλώσσα:	English
Έκδοση:	1992

Παρόμοια τεκμήρια

LINKAGE OF AUTOSOMAL DOMINANT MYOTONIA-CONGENITA (THOMSEN DISEASE) TO THE TCRB GENE LOCUS ON CHROMOSOME-7Q35
ανά: Abdalla, J, κ.ά.
Έκδοση: (1992)

Haplotype Analysis of the T-Cell Receptor Beta (TCRB) Locus by Long-amplicon TCRB Repertoire Sequencing
ανά: Timothy J Looney, κ.ά.
Έκδοση: (2019-09-01)

Linkage analysis of candidate loci in autosomal dominant myotonia congenita.
ανά: Abdalla, J, κ.ά.
Έκδοση: (1992)

Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).
ανά: George, A, κ.ά.
Έκδοση: (1993)

Exclusion of linkage between hypokalemic periodic paralysis (HOKPP) and three candidate loci.
ανά: Casley, W, κ.ά.
Έκδοση: (1992)

Linkage study across the TCRA and TCRB loci in multiplex families with rheumatoid arthritis.
ανά: Hall, F, κ.ά.
Έκδοση: (1996)

Osteoarthritis-susceptibility locus on chromosome 11q, detected by linkage.
ανά: Chapman, K, κ.ά.
Έκδοση: (1999)

A Lamina-Associated Domain Border Governs Nuclear Lamina Interactions, Transcription, and Recombination of the Tcrb Locus
ανά: Shiwei Chen, κ.ά.
Έκδοση: (2018-11-01)

Linkage to chromosome 2q32.2-q35 in families with serrated neoplasia
ανά: Roberts Aedan, κ.ά.
Έκδοση: (2010-05-01)

Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.
ανά: Annika E Schlaweck, κ.ά.
Έκδοση: (2019-01-01)

Linkage to the AUTS1 locus and analysis of candidate genes for autism on chromosome 7q.
ανά: Bonora, E, κ.ά.
Έκδοση: (2003)

Significant linkage to migrane with aura on chromosome 11q24
ανά: Cader, Z, κ.ά.
Έκδοση: (2003)

Significant linkage to migraine with aura on chromosome 11q24.
ανά: Cader, Z, κ.ά.
Έκδοση: (2003)

Svar til Ole Thomsen
ανά: Knud Haakonssen, κ.ά.
Έκδοση: (2020-10-01)

Positive replication and linkage disequilibrium mapping of the chromosome 21q22.1 malaria susceptibility locus.
ανά: Khor, C, κ.ά.
Έκδοση: (2007)

Prostate Cancer Aggressiveness Locus on Chromosome 7832-q33 Identified by Linkage and Allelic Imbalance Studies
ανά: Phillippa J. Neville, κ.ά.
Έκδοση: (2002-01-01)

Precise discrimination of lymphoproliferative disorders with combined TCRG and TCRB: Japanese series
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Έκδοση: (2019-10-01)

69 Automated TRB locus haplotype analysis by long-amplicon TCRB chain sequencing for potential immune-related adverse events biomarker research
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Έκδοση: (2020-11-01)

Linkage disequilibrium mapping of the chromosome 6q21-22.31 bipolar I disorder susceptibility locus.
ανά: Fan, J, κ.ά.
Έκδοση: (2010)

Linkage analysis of chromosome 2q in osteoarthritis.
ανά: Loughlin, J, κ.ά.
Έκδοση: (2000)

Increased support for linkage of a novel locus on chromosome 5q13 for essential hypertension in the British Genetics of Hypertension Study.
ανά: Munroe, P, κ.ά.
Έκδοση: (2006)

Myotonia congenita (Thomsen's disease). (A case report)
ανά: V Baytok
Έκδοση: (1968-04-01)

Miotonia de Thomsen: Considerações sobre sua terapêutica
ανά: Paulo Pinto Pupo, κ.ά.
Έκδοση: (1946-03-01)

Linkage studies of the Type 2 diabetes susceptibility locus on chromosome 1q: Combined analysis of 1200 UK and French affected sibpairs
ανά: Groves, C, κ.ά.
Έκδοση: (2002)

Aglutinina anti-T (Thomsen-Friedenreich) na doença de Chagas
ανά: Marcos Palatnik, κ.ά.
Έκδοση: (1986-10-01)

Rudi Thomsen: Ambition and Confucianism. A Biography of Wang Mang
ανά: Jens Østergård Petersen
Έκδοση: (1991-07-01)

Chorea-acanthocytosis: genetic linkage to chromosome 9q21.
ανά: Rubio, J, κ.ά.
Έκδοση: (1997)

INCLUSÃO DO ANTICORPO TCRB1 NO PAINEL LINFOPROLIFERATIVO T - EXPERIENCIA COM RELATO DE DOIS CASOS
ανά: CMR Franzon, κ.ά.
Έκδοση: (2021-10-01)

Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q
ανά: Prokopenko, I, κ.ά.
Έκδοση: (2009)

Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q.
ανά: Prokopenko, I, κ.ά.
Έκδοση: (2009)

Linkage disequilibrium on the bovine X chromosome: characterization and use in quantitative trait locus mapping
ανά: Sandor, C, κ.ά.
Έκδοση: (2006)

Evidence that a locus for familial psoriasis maps to chromosome 4q.
ανά: Matthews, D, κ.ά.
Έκδοση: (1996)

Interaction of the oncofetal Thomsen-Friedenreich antigen with galectins in cancer progression and metastasis
ανά: Paulina eSindrewicz, κ.ά.
Έκδοση: (2016-03-01)

Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26.
ανά: Treloar, SA, κ.ά.
Έκδοση: (2005)

Genome-wide linkage scan for colorectal cancer susceptibility genes supports linkage to chromosome 3q
ανά: Velculescu Victor E, κ.ά.
Έκδοση: (2008-04-01)

Colorectal cancer linkage on chromosomes 4q21, 8q13, 12q24, and 15q22.
ανά: Mine S Cicek, κ.ά.
Έκδοση: (2012-01-01)

Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q.
ανά: Consortium, I
Έκδοση: (2001)

Locus for quantitative HDL-cholesterol on chromosome 10q in Finnish families with dyslipidemia
ανά: Heidi E. Lilja, κ.ά.
Έκδοση: (2004-10-01)

Development, Characterization, and Immunotherapeutic Use of Peptide Mimics of the Thomsen-Friedenreich Carbohydrate Antigen
ανά: Jamie Heimburg-Molinaro, κ.ά.
Έκδοση: (2009-08-01)

Structural basis for distinct binding properties of the human galectins to Thomsen-Friedenreich antigen.
ανά: Cheng-Feng Bian, κ.ά.
Έκδοση: (2011-01-01)