Article
Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a.
Biochemical and biophysical research communications - 9 Aug 2002
Germain-Lee Emily L, Ding Chang Lin, Deng Zhichao, Crane Janet L, Saji Motoyasu, Ringel Matthew D, Levine Michael A
Abstract excerpt
Albright hereditary osteodystrophy (AHO) is characterized by multiple somatic defects secondary to mutations in the GNAS1 gene. AHO patients with mutations on maternally inherited alleles are resistant to multiple hormones (e.g., PTH, TSH), a variant termed pseudohypoparathyroidism (PHP) type 1a, due to presumed tissue-specific paternal imprinting of the alpha chain of G(s) as demonstrated in murine renal...
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