Search Results - Murat Bastepe
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<i>GNAS</i> Locus and Pseudohypoparathyroidism by Murat Bastepe, Harald Jüppner
Published 2005Revisão -
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Mechanisms of Ligand Binding to the Parathyroid Hormone (PTH)/PTH-Related Protein Receptor: Selectivity of a Modified PTH(1–15) Radioligand for GαS-Coupled Receptor Conformations... by Thomas Dean, Agnès Linglart, Matthew J. Mahon, Murat Bastepe, Harald Jüppner, John T. Potts, Thomas J. Gardella
Published 2005Artigo -
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Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-r... by Susanne Thiele, Luisa De Sanctis, Ralf Werner, Joachim Grötzinger, Cumhur Aydın, Harald Jüppner, Murat Bastepe, Olaf Hiort
Published 2011Artigo -
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Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia by Serap Turan, Cumhur Aydın, Abdullah Bereket, Teoman Akçay, Tülay Güran, Betul Akmen Yaralioglu, Murat Bastepe, Harald Jüppner
Published 2009Artigo -
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Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel <i>DMP1</i> mutation by Outi Mäkitie, Renata C. Pereira, Ilkka Kaitila, Serap Turan, Murat Bastepe, Tero Laine, Heikki Kröger, William G. Cole, Harald Jüppner
Published 2010Artigo -
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Postnatal Establishment of Allelic Gαs Silencing as a Plausible Explanation for Delayed Onset of Parathyroid Hormone Resistance Owing to Heterozygous Gαs Disruption by Serap Turan, Eduardo Fernández‐Rebollo, Cumhur Aydın, Teuta Zoto Mustafayev, Monica Reyes, George S. Bounoutas, Min Chen, Lee S. Weinstein, Reinhold G. Erben, Vladimir Marshansky, Murat Bastepe
Published 2013Artigo
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Biology
Medicine
Internal medicine
Gene
Genetics
Calcium
Parathyroid hormone
GNAS complex locus
Pseudohypoparathyroidism
Endocrinology
DNA methylation
Gene expression
Genomic imprinting
Exon
Molecular biology
Allele
Imprinting (psychology)
Locus (genetics)
Receptor
Cell biology
Chemistry
Mutation
Biochemistry
G protein
Chromosome
G protein-coupled receptor
Hypophosphatemia
Signal transduction
Anatomy
Gs alpha subunit