[1]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Kidney;
DOI=10.1210/en.132.5.2157; PubMed=8386612 [NCBI, ExPASy, EBI, Israel, Japan]
Schipani E.,
Karga H.,
Karaplis A.C.,
Potts J.T. Jr.,
Kronenberg H.M.,
Abou-Samra A.-B.,
Segre G.V.,
Jueppner H.;
"Identical complementary deoxyribonucleic acids encode a human renal and bone parathyroid hormone (PTH)/PTH-related peptide receptor.";
Endocrinology 132:2157-2165(1993).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Kidney;
DOI=10.1016/0922-4106(93)90092-N; PubMed=8397094 [NCBI, ExPASy, EBI, Israel, Japan]
Schneider H.,
Feyen J.-H.,
Rao Movva N.;
"Cloning and functional expression of a human parathyroid hormone receptor.";
Eur. J. Pharmacol. 246:149-155(1993).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1210/jc.80.5.1611; PubMed=7745008 [NCBI, ExPASy, EBI, Israel, Japan]
Schipani E.,
Weinstein L.S.,
Bergwitz C.,
Iida-Klein A.,
Kong X.F.,
Stuhrmann M.,
Kruse K.,
Whyte M.P.,
Murray T.,
Schmidtke J.,
Dop C.,
Brickman A.S.,
Crawford J.D.,
Potts J.T. Jr.,
Kronenberg H.M.,
Abou-Samra A.-B.,
Segre G.V.,
Jueppner H.;
"Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene.";
J. Clin. Endocrinol. Metab. 80:1611-1621(1995).
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[4]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Kidney;
Levine M.A.;
"Characterization of cDNA and genomic DNA encoding the human PTH/PTHrP receptor.";
Submitted (NOV-1994) to the EMBL/GenBank/DDBJ databases.
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[5]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Lung;
King M.M.,
Aronstam R.S.,
Sharma S.V.;
"Isolation of cDNA coding for parathyroid hormone receptor 1 (PTHR1).";
Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases.
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Cerebellum;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[7]
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DISULFIDE BONDS IN EXTRACELLULAR DOMAIN.
DOI=10.1021/bi0001426; PubMed=10913300 [NCBI, ExPASy, EBI, Israel, Japan]
Grauschopf U.,
Lilie H.,
Honold K.,
Wozny M.,
Reusch D.,
Esswein A.,
Schafer W.,
Rucknagel K.P.,
Rudolph R.;
"The N-terminal fragment of human parathyroid hormone receptor 1 constitutes a hormone binding domain and reveals a distinct disulfide pattern.";
Biochemistry 39:8878-8887(2000).
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[8]
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STRUCTURE BY NMR OF 168-198.
DOI=10.1021/bi981265h; PubMed=9737850 [NCBI, ExPASy, EBI, Israel, Japan]
Pellegrini M.,
Bisello A.,
Rosenblatt M.,
Chorev M.,
Mierke D.F.;
"Binding domain of human parathyroid hormone receptor: from conformation to function.";
Biochemistry 37:12737-12743(1998).
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[9]
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VARIANT JMC ARG-223.
PubMed=7701349 [NCBI, ExPASy, EBI, Israel, Japan]
Schipani E.,
Kruse K.,
Jueppner H.;
"A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia.";
Science 268:98-100(1995).
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[10]
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VARIANTS JMC ARG-223 AND PRO-410.
DOI=10.1056/NEJM199609053351004; PubMed=8703170 [NCBI, ExPASy, EBI, Israel, Japan]
Schipani E.,
Langman C.B.,
Parfitt A.M.,
Jensen G.S.,
Kikuchi S.,
Kooh S.W.,
Cole W.G.,
Jueppner H.;
"Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia.";
N. Engl. J. Med. 335:708-714(1996).
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[11]
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CHARACTERIZATION OF VARIANTS JMC ARG-223 AND PRO-410.
DOI=10.1210/me.11.7.851; PubMed=9178745 [NCBI, ExPASy, EBI, Israel, Japan]
Schipani E.,
Jensen G.S.,
Pincus J.,
Nissenson R.A.,
Gardella T.J.,
Jueppner H.;
"Constitutive activation of the cyclic adenosine 3',5'-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia.";
Mol. Endocrinol. 11:851-858(1997).
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[12]
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VARIANT BOCD LEU-132.
DOI=10.1210/jc.83.9.3373; PubMed=9745456 [NCBI, ExPASy, EBI, Israel, Japan]
Zhang P.,
Jobert A.-S.,
Couvineau A.,
Silve C.;
"A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia.";
J. Clin. Endocrinol. Metab. 83:3365-3368(1998).
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[13]
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VARIANT JMC ARG-458.
DOI=10.1210/jc.84.9.3052; PubMed=10487664 [NCBI, ExPASy, EBI, Israel, Japan]
Schipani E.,
Langman C.B.,
Hunzelman J.,
Le Merrer M.,
Loke K.Y.,
Dillon M.J.,
Silve C.,
Jueppner H.;
"A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia.";
J. Clin. Endocrinol. Metab. 84:3052-3057(1999).
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[14]
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VARIANT ENCHONDROMATOSIS CYS-150.
DOI=10.1038/ng844; PubMed=11850620 [NCBI, ExPASy, EBI, Israel, Japan]
Hopyan S.,
Gokgoz N.,
Poon R.,
Gensure R.C.,
Yu C.,
Cole W.G.,
Bell R.S.,
Jueppner H.,
Andrulis I.L.,
Wunder J.S.,
Alman B.A.;
"A mutant PTH/PTHrP type I receptor in enchondromatosis.";
Nat. Genet. 30:306-310(2002).
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[15]
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DISCUSSION OF THE ASSOCIATION OF CYS-150 WITH ENCHODROMATOSIS.
DOI=10.1002/humu.20095; PubMed=15523647 [NCBI, ExPASy, EBI, Israel, Japan]
Rozeman L.B.,
Sangiorgi L.,
Briaire-de Bruijn I.H.,
Mainil-Varlet P.,
Bertoni F.,
Cleton-Jansen A.-M.,
Hogendoorn P.C.W.,
Bovee J.V.M.G.;
"Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C.";
Hum. Mutat. 24:466-473(2004).
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[16]
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VARIANT JMC ARG-410, AND CHARACTERIZATION OF VARIANT JMC ARG-410.
DOI=10.1210/jc.2004-0036; PubMed=15240651 [NCBI, ExPASy, EBI, Israel, Japan]
Bastepe M.,
Raas-Rothschild A.,
Silver J.,
Weissman I.,
Wientroub S.,
Jueppner H.,
Gillis D.;
"A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation.";
J. Clin. Endocrinol. Metab. 89:3595-3600(2004).
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[17]
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INVOLVEMENT IN EIKEN SYNDROME.
DOI=10.1093/hmg/ddi001; PubMed=15525660 [NCBI, ExPASy, EBI, Israel, Japan]
Duchatelet S.,
Ostergaard E.,
Cortes D.,
Lemainque A.,
Julier C.;
"Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.";
Hum. Mol. Genet. 14:1-5(2005).
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