25 results for author:"Jueppner H." in Literature citations
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| Fibroblast growth factor 23 in patients undergoing peritoneal dialysis. Isakova T., Xie H., Barchi-Chung A., Vargas G., Sowden N., Houston J., Wahl P., Lundquist A., Epstein M., Smith K. et al. Clin J Am Soc Nephrol 6:2688-2695(2011) · Mapped (2) |
| Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. Konrad M., Schaller A., Seelow D., Pandey A.V., Waldegger S., Lesslauer A., Vitzthum H., Suzuki Y., Luk J.M., Becker C. et al. Am. J. Hum. Genet. 79:949-957(2006) · UniProtKB (1) · Mapped (1) |
| DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Lorenz-Depiereux B., Bastepe M., Benet-Pages A., Amyere M., Wagenstaller J., Mueller-Barth U., Badenhoop K., Kaiser S.M., Rittmaster R.S., Shlossberg A.H. et al. Nat. Genet. 38:1248-1250(2006) · UniProtKB (2) |
| SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. Bergwitz C., Roslin N.M., Tieder M., Loredo-Osti J.C., Bastepe M., Abu-Zahra H., Frappier D., Burkett K., Carpenter T.O., Anderson D. et al. Am. J. Hum. Genet. 78:179-192(2006) · UniProtKB (1) |
| A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. Gensure R.C., Maekitie O., Barclay C., Chan C., Depalma S.R., Bastepe M., Abuzahra H., Couper R., Mundlos S., Sillence D. et al. J. Clin. Invest. 115:1250-1257(2005) · UniProtKB (1) |
| A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. Linglart A., Gensure R.C., Olney R.C., Jueppner H., Bastepe M. Am. J. Hum. Genet. 76:804-814(2005) · UniProtKB (5) |
| Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Bastepe M., Froehlich L.F., Linglart A., Abu-Zahra H.S., Tojo K., Ward L.M., Jueppner H. Nat. Genet. 37:25-27(2005) · UniProtKB (4) |
| 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. Bastepe M., Raas-Rothschild A., Silver J., Weissman I., Wientroub S., Jueppner H., Gillis D. J. Clin. Endocrinol. Metab. 89:3595-3600(2004) · UniProtKB (1) |
| Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. Bastepe M., Froehlich L.F., Hendy G.N., Indridason O.S., Josse R.G., Koshiyama H., Koerkkoe J., Nakamoto J.M., Rosenbloom A.L., Slyper A.H. et al. J. Clin. Invest. 112:1255-1263(2003) · UniProtKB (5) |
| Receptor-mediated adenylyl cyclase activation through XLalpha(s), the extra-large variant of the stimulatory G protein alpha-subunit. Bastepe M., Gunes Y., Perez-Villamil B., Hunzelman J., Weinstein L.S., Jueppner H. Mol. Endocrinol. 16:1912-1919(2002) · UniProtKB (1) |
| Identification and characterization of the murine and human gene encoding the tuberoinfundibular peptide of 39 residues. John M.R., Arai M., Rubin D.A., Jonsson K.B., Jueppner H. Endocrinology 143:1047-1057(2002) · UniProtKB (4) |
| A mutant PTH/PTHrP type I receptor in enchondromatosis. 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. et al. |
| LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Gong Y., Slee R.B., Fukai N., Rawadi G., Roman-Roman S., Reginato A.M., Wang H., Cundy T., Glorieux F.H., Lev D. et al. Cell 107:513-523(2001) · UniProtKB (1) |
| Paternal uniparental isodisomy of chromosome 20q -- and the resulting changes in GNAS1 methylation -- as a plausible cause of pseudohypoparathyroidism. Bastepe M., Lane A.H., Jueppner H. Am. J. Hum. Genet. 68:1283-1289(2001) · UniProtKB (4) |
| The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting. White K.E., Jonsson K.B., Carn G., Hampson G., Spector T.D., Mannstadt M., Lorenz-Depiereux B., Miyauchi A., Yang I.M., Ljunggren O. et al. J. Clin. Endocrinol. Metab. 86:497-500(2001) · UniProtKB (1) |
| A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia. Schipani E., Langman C.B., Hunzelman J., Le Merrer M., Loke K.Y., Dillon M.J., Silve C., Jueppner H. J. Clin. Endocrinol. Metab. 84:3052-3057(1999) · UniProtKB (1) |
| 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. Schipani E., Jensen G.S., Pincus J., Nissenson R.A., Gardella T.J., Jueppner H. Mol. Endocrinol. 11:851-858(1997) · UniProtKB (1) |
| Cloning and characterization of the vitamin D receptor from Xenopus laevis. Li Y.C., Bergwitz C., Jueppner H., Demay M.B. Endocrinology 138:2347-2353(1997) · UniProtKB (1) |
| Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. Schipani E., Langman C.B., Parfitt A.M., Jensen G.S., Kikuchi S., Kooh S.W., Cole W.G., Jueppner H. N. Engl. J. Med. 335:708-714(1996) · UniProtKB (1) · Mapped (2) |
| Identical complementary deoxyribonucleic acids encode a human renal and bone parathyroid hormone (PTH)/PTH-related peptide receptor. Schipani E., Karga H., Karaplis A.C., Potts J.T. Jr., Kronenberg H.M., Abou-Samra A.-B., Segre G.V., Jueppner H. Endocrinology 132:2157-2165(1993) · UniProtKB (1) |
| Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. Schipani E., Weinstein L.S., Bergwitz C., Iida-Klein A., Kong X.F., Stuhrmann M., Kruse K., Whyte M.P., Murray T., Schmidtke J. et al. J. Clin. Endocrinol. Metab. 80:1611-1621(1995) · UniProtKB (1) |
| A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Schipani E., Kruse K., Jueppner H. Science 268:98-100(1995) · UniProtKB (1) |
| A novel cyclin encoded by a bcl1-linked candidate oncogene. Motokura T., Bloom T., Kim H.G., Jueppner H., Ruderman J.V., Kronenberg H.M., Arnold A. |
| A G protein-linked receptor for parathyroid hormone and parathyroid hormone-related peptide. Jueppner H., Abou-Samra A.-B., Freeman M., Kong X.-F., Schipani E., Richards J., Kolakowski L.F. Jr., Hock J., Potts J.T. Jr., Kronenberg H.M. et al. Science 254:1024-1026(1991) · UniProtKB (1) |
| 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 A.-B., Jueppner H., Force T., Freeman M.W., Kong X.-F., Schipani E., Urena P., Richards J., Bonventre J.V., Potts J.T. Jr. et al. Proc. Natl. Acad. Sci. U.S.A. 89:2732-2736(1992) · UniProtKB (1) · Mapped (1) |