Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Calpain-10

Das CAPN10-Gen kodiert eine calcium-abhängige Cystein-Protease. Mutationen sind mit nicht-insulinabhängigem Diabetes mellitus 1 assoziiert (NIDDM1).

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Nichtinsulinabhängiger Diabetes mellitus 1
CAPN10

Referenzen:

1.

Hanis CL et al. (1996) A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2.

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2.

Carlsson E et al. (2004) Variation in the calpain-10 gene is associated with elevated triglyceride levels and reduced adipose tissue messenger ribonucleic acid expression in obese Swedish subjects.

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3.

Song Y et al. (2004) Are variants in the CAPN10 gene related to risk of type 2 diabetes? A quantitative assessment of population and family-based association studies.

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4.

Gonzalez A et al. (2003) Specific CAPN10 gene haplotypes influence the clinical profile of polycystic ovary patients.

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5.

Weedon MN et al. (2003) Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility.

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6.

Horikawa Y et al. (2003) Genetic variations in calpain-10 gene are not a major factor in the occurrence of type 2 diabetes in Japanese.

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7.

Gonzalez A et al. (2002) Comment: CAPN10 alleles are associated with polycystic ovary syndrome.

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8.

Hoffstedt J et al. (2002) Calpain-10 gene polymorphism is associated with reduced beta(3)-adrenoceptor function in human fat cells.

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9.

Ehrmann DA et al. (2002) Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome.

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10.

Fullerton SM et al. (2002) Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus.

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11.

Elbein SC et al. (2002) Role of calpain-10 gene variants in familial type 2 diabetes in Caucasians.

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12.

Tsai HJ et al. (2001) Type 2 diabetes and three calpain-10 gene polymorphisms in Samoans: no evidence of association.

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13.

Evans JC et al. (2001) Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom.

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14.

Weiss KM et al. (2000) How many diseases does it take to map a gene with SNPs?

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15.

Kang ES et al. (2006) A novel 111/121 diplotype in the Calpain-10 gene is associated with type 2 diabetes.

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16.

None (2001) Challenges in identifying genetic variation affecting susceptibility to type 2 diabetes: examples from studies of the calpain-10 gene.

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17.

Altshuler D et al. (2000) Guilt by association.

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18.

Horikawa Y et al. (2000) Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus.

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19.

NCBI article

NCBI 11132 external link
20.

OMIM.ORG article

Omim 605286 external link
Update: 14. August 2020
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