Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB
Author:
Publisher
Oxford University Press (OUP)
Subject
Genetics(clinical),Genetics,Molecular Biology,General Medicine
Link
http://academic.oup.com/hmg/article-pdf/14/1/95/6949057/ddi009.pdf
Reference32 articles.
1. Weinstein, L.S., Yu, S., Warner, D.R. and Liu, J. ( 2001 ) Endocrine manifestations of stimulatory G protein α-subunit mutations and the role of genomic imprinting. Endocr. Rev. , 22 , 675 –705.
2. Davies, S.J. and Hughes, H.E. ( 1993 ) Imprinting in Albright's hereditary osteodystrophy. J. Med. Genet. , 30 , 101 –103.
3. Weinstein, L.S. ( 2001 ) Editorial: the stimulatory G protein α-subunit gene: mutations and imprinting lead to complex phenotypes. J. Clin. Endocrinol. Metab. , 86 , 4622 –4626.
4. Yu, S., Yu, D., Lee, E., Eckhaus, M., Lee, R., Corria, Z., Accili, D., Westphal, H. and Weinstein, L.S. ( 1998 ) Variable and tissue-specific hormone resistance in heterotrimeric G s protein α-subunit (G s α) knockout mice is due to tissue-specific imprinting of the G s α gene. Proc. Natl Acad. Sci. USA , 95 , 8715 –8720.
5. Hayward, B.E., Barlier, A., Korbonits, M., Grossman, A.B., Jacquet, P., Enjalbert, A. and Bonthron, D.T. ( 2001 ) Imprinting of the G s α gene GNAS1 in the pathogenesis of acromegaly. J. Clin. Invest. , 107 , R31 –R36.
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