Die Hypocalciämie 2 ist eine autosomal dominante Erkrankung, die durch aktivierende Mutationen des GNA11 hervorgerufen wird.
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Wilkie TM et al. (1992) Evolution of the mammalian G protein alpha subunit multigene family. |
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Van Raamsdonk CD et al. (2004) Effects of G-protein mutations on skin color. |
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Kero J et al. (2007) Thyrocyte-specific Gq/G11 deficiency impairs thyroid function and prevents goiter development. |
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Wirth A et al. (2008) G12-G13-LARG-mediated signaling in vascular smooth muscle is required for salt-induced hypertension. |
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Jiang M et al. (1991) Guanine nucleotide-binding regulatory proteins in retinal pigment epithelial cells. |
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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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Van Raamsdonk CD et al. (2010) Mutations in GNA11 in uveal melanoma. |
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Nesbit MA et al. (2013) Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. |
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Mannstadt M et al. (2013) Germline mutations affecting Gα11 in hypoparathyroidism. |
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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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Offermanns S et al. (1998) Embryonic cardiomyocyte hypoplasia and craniofacial defects in G alpha q/G alpha 11-mutant mice. |
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OMIM.ORG article Omim 145981 |