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The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.
Jüppner H, Schipani E, Bastepe M, Cole DE, Lawson ML, Mannstadt M, Hendy GN, Plotkin H, Koshiyama H, Koh T, Crawford JD, Olsen BR, Vikkula M. Jüppner H, et al. Among authors: schipani e. Proc Natl Acad Sci U S A. 1998 Sep 29;95(20):11798-803. doi: 10.1073/pnas.95.20.11798. Proc Natl Acad Sci U S A. 1998. PMID: 9751745 Free PMC article.
Expression cloning of a common receptor for parathyroid hormone and parathyroid hormone-related peptide from rat osteoblast-like cells: a single receptor stimulates intracellular accumulation of both cAMP and inositol trisphosphates and increases intracellular free calcium.
Abou-Samra AB, Jüppner H, Force T, Freeman MW, Kong XF, Schipani E, Urena P, Richards J, Bonventre JV, Potts JT Jr, et al. Abou-Samra AB, et al. Among authors: schipani e. Proc Natl Acad Sci U S A. 1992 Apr 1;89(7):2732-6. doi: 10.1073/pnas.89.7.2732. Proc Natl Acad Sci U S A. 1992. PMID: 1313566 Free PMC article.
Targeted expression of constitutively active receptors for parathyroid hormone and parathyroid hormone-related peptide delays endochondral bone formation and rescues mice that lack parathyroid hormone-related peptide.
Schipani E, Lanske B, Hunzelman J, Luz A, Kovacs CS, Lee K, Pirro A, Kronenberg HM, Jüppner H. Schipani E, et al. Proc Natl Acad Sci U S A. 1997 Dec 9;94(25):13689-94. doi: 10.1073/pnas.94.25.13689. Proc Natl Acad Sci U S A. 1997. PMID: 9391087 Free PMC article.
Polymorphism in exon M7 of the PTHR gene.
Schipani E, Hustmyer FG, Bergwitz C, Jüppner H. Schipani E, et al. Hum Mol Genet. 1994 Jul;3(7):1210. doi: 10.1093/hmg/3.7.1210-a. Hum Mol Genet. 1994. PMID: 7981709 No abstract available.
166 results