Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hypercalciurische Hypocalciämie 2

Die Hypocalciämie 2 ist eine autosomal dominante Erkrankung, die durch aktivierende Mutationen des GNA11 hervorgerufen wird.

Gliederung

Bartter-Syndrom
Antenatales Bartter-Syndrom Typ 1
Antenatales Bartter-Syndrom Typ 2
Hypercalciurische Hypocalciämie 1
Hypercalciurische Hypocalciämie 2
GNA11
Infantiles Bartter-Syndrom mit Schwerhörigkeit Typ 4
Klassisches Bartter-Syndrom
Transientes antenatales Bartter-Syndrom

Referenzen:

1.

Wilkie TM et al. (1992) Evolution of the mammalian G protein alpha subunit multigene family.

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2.

Heath H et al. (1992) Genetic linkage analysis in familial benign hypercalcemia using a candidate gene strategy. I. Studies in four families.

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3.

Van Raamsdonk CD et al. (2004) Effects of G-protein mutations on skin color.

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4.

Kero J et al. (2007) Thyrocyte-specific Gq/G11 deficiency impairs thyroid function and prevents goiter development.

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5.

Wirth A et al. (2008) G12-G13-LARG-mediated signaling in vascular smooth muscle is required for salt-induced hypertension.

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6.

Jiang M et al. (1991) Guanine nucleotide-binding regulatory proteins in retinal pigment epithelial cells.

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7.

Strathmann MP et al. (1991) G alpha 12 and G alpha 13 subunits define a fourth class of G protein alpha subunits.

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8.

Van Raamsdonk CD et al. (2010) Mutations in GNA11 in uveal melanoma.

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9.

Nesbit MA et al. (2013) Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

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10.

Mannstadt M et al. (2013) Germline mutations affecting Gα11 in hypoparathyroidism.

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11.

Davignon I et al. (1996) Gene structure of murine Gna11 and Gna15: tandemly duplicated Gq class G protein alpha subunit genes.

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12.

Offermanns S et al. (1998) Embryonic cardiomyocyte hypoplasia and craniofacial defects in G alpha q/G alpha 11-mutant mice.

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