Bastepe, Murat : rechercher sur Z-Library

Campagne de collecte 15 septembre 2024 – 1 octobre 2024 C'est quoi, la collecte de fonds?

Le plus grand référentiel d'articles scientifiques au monde. 70,000,000+ d'articles gratuitement.

Campagne de collecte 15 septembre 2024 – 1 octobre 2024

Z-Library est une des plus grandes bibliothèques en ligne dans le monde, avec le stockage de plus de 17,000,000 livres et plus de 84,837,000 articles. Nous encourageons l'accès libre de chacun à la littérature. Aujourd'hui (15 septembre 2024) nous faisons un appel de fonds à tous ceux qui veulent contribuer encore plus au soutien et au développement de notre projet.

Les téléchargements SANS LIMITE sont aussi (au cours de 31 jours après la date de don) disponibles pour TOUS les utilisateurs qui soient en mesure de soutenir le projet pendant la période de collecte de fonds jusqu'au 1 octobre 2024.

C'est quoi, la collecte de fonds?En savoir plus

Livres
Articles (62)
Les plus populaires
Liste
- Liste
- Tableau

1

A rapid microarray based whole genome analysis for detection of uniparental disomy

Özge Altug-Teber, Andreas Dufke, Sven Poths, Ulrike Angelika Mau-Holzmann, Murat Bastepe, Laurence Colleaux, Valérie Cormier-Daire, Thomas Eggermann, Gabriele Gillessen-Kaesbach, Michael Bonin, Olaf R

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 282 KB

english, 2005

2

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

Mantovani, Giovanna, Bastepe, Murat, Monk, David, deÂ Sanctis, Luisa, Thiele, Susanne, Ahmed, S.Â Faisal, Bufo, Roberto, Choplin, TimothÃ©e, DeÂ Filippo, Gianpaolo, Devernois, Guillemette, Eggermann,

Journal:

Hormone Research in Paediatrics

Année:

2020

Fichier:

PDF, 560 KB

2020

3

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction

Susanne Thiele, Luisa de Sanctis, Ralf Werner, Joachim Grötzinger, Cumhur Aydin, Harald Jüppner, Murat Bastepe, Olaf Hiort

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 260 KB

english, 2011

4

Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation

Outi Mäkitie, Renata C Pereira, Ilkka Kaitila, Serap Turan, Murat Bastepe, Tero Laine, Heikki Kröger, William G Cole, Harald Jüppner

Journal:

Journal of Bone and Mineral Research

Année:

2010

Langue:

english

Fichier:

PDF, 413 KB

english, 2010

5

Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: Evidence for an autosomal recessive form of PHP-Ib?

Eduardo Fernández-Rebollo, Guiomar Pérez de Nanclares, Beatriz Lecumberri, Serap Turan, Emma Anda, Gustavo Pérez-Nanclares, Denice Feig, Serena Nik-Zainal, Murat Bastepe, Harald Jüppner

Journal:

Journal of Bone and Mineral Research

Année:

2011

Langue:

english

Fichier:

PDF, 825 KB

english, 2011

6

Parathyroid hormone signaling via Gαs is selectively inhibited by an NH2-terminally truncated Gαs: Implications for pseudohypoparathyroidism

Svetlana Puzhko, Cynthia Gates Goodyer, Mohammad Amin Kerachian, Lucie Canaff, Madhusmita Misra, Harald Jüppner, Murat Bastepe, Geoffrey N Hendy

Journal:

Journal of Bone and Mineral Research

Année:

2011

Langue:

english

Fichier:

PDF, 579 KB

english, 2011

7

Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation

Murat Bastepe, Harald Jüppner

Journal:

Reviews in Endocrine & Metabolic Disorders

Année:

2008

Langue:

english

Fichier:

PDF, 248 KB

english, 2008

8

Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus

Agnès Linglart, Murat Bastepe, Harald Jüppner

Journal:

Clinical Endocrinology

Année:

2007

Langue:

english

Fichier:

PDF, 221 KB

english, 2007

9

Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib

Bastepe, Murat, Fröhlich, Leopold F, Linglart, Agnès, Abu-Zahra, Hilal S, Tojo, Katsuyoshi, Ward, Leanne M, Jüppner, Harald

Journal:

Nature Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 302 KB

english, 2004

10

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis

Lorenz-Depiereux, Bettina, Bastepe, Murat, Benet-Pagès, Anna, Amyere, Mustapha, Wagenstaller, Janine, Müller-Barth, Ursula, Badenhoop, Klaus, Kaiser, Stephanie M, Rittmaster, Roger S, Shlossberg, Alan

Journal:

Nature Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 138 KB

english, 2006

11

Identification of a region of the C-terminal domain involved in short-term desensitization of the prostaglandin EP4 receptor

Murat Bastepe, Barrie Ashby

Journal:

British Journal of Pharmacology

Année:

1999

Langue:

english

Fichier:

PDF, 438 KB

english, 1999

12

Dosage-dependent switch from G protein-coupled to G protein-independent signaling by a GPCR

Sun, Yutong, Huang, Jianyun, Xiang, Yang, Bastepe, Murat, Jüppner, Harald, Kobilka, Brian K, Zhang, J Jillian, Huang, Xin-Yun

Journal:

The EMBO Journal

Année:

2006

Langue:

english

Fichier:

PDF, 627 KB

english, 2006

13

Autosomal-Dominant Pseudohypoparathyroidism Type Ib is Caused by Different Microdeletions Within or Upstream of the GNAS Locus

HARALD JÜPPNER, AGNÈS LINGLART, LEOPOLD F. FRÖHLICH, MURAT BASTEPE

Journal:

Annals of the New York Academy of Sciences

Année:

2006

Langue:

english

Fichier:

PDF, 85 KB

english, 2006

14

Characterization of the molecular mechanisms of the coupling between intracellular loops of prostacyclin receptor with the C-terminal domain of the Gαs protein in human coronary artery smooth muscle cells

Lihai Zhang, Murat Bastepe, Harald Jüppner, Ke-He Ruan

Journal:

Archives of Biochemistry and Biophysics

Année:

2006

Langue:

english

Fichier:

PDF, 576 KB

english, 2006

15

Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia

Serap Turan, Cumhur Aydin, Abdullah Bereket, Teoman Akcay, Tülay Güran, Betul Akmen Yaralioglu, Murat Bastepe, Harald Jüppner

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 1.28 MB

english, 2010

16

Potent constitutive cyclic AMP-generating activity of XLαs implicates this imprinted GNAS product in the pathogenesis of McCune–Albright Syndrome and fibrous dysplasia of bone

Virginie Mariot, Joy Y. Wu, Cumhur Aydin, Giovanna Mantovani, Matthew J. Mahon, Agnès Linglart, Murat Bastepe

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 716 KB

english, 2011

17

Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib)

Murat Bastepe, Özge Altug-Teber, Chhavi Agarwal, Sharon E. Oberfield, Michael Bonin, Harald Jüppner

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 432 KB

english, 2011

18

Haplotype frequencies and linkage disequilibrium analysis of four frequent polymorphisms at the PTH/PTH-related peptide receptor gene locus

Leopold F Fröhlich, Robert C Gensure, Ernestina Schipani, Harald Jüppner, Murat Bastepe

Journal:

Molecular and Cellular Probes

Année:

2004

Langue:

english

Fichier:

PDF, 93 KB

english, 2004

19

D2 dopamine receptor-induced sensitization of adenylyl cyclase type 1 is Gαs independent

Timothy A. Vortherms, Chau H. Nguyen, Murat Bastepe, Harald Jüppner, Val J. Watts

Journal:

Neuropharmacology

Année:

2006

Langue:

english

Fichier:

PDF, 308 KB

english, 2006

20

Paternal Uniparental Isodisomy of Chromosome 20q—and the Resulting Changes in GNAS1 Methylation—as a Plausible Cause of Pseudohypoparathyroidism

Murat Bastepe, Andrew H. Lane, Harald Jüppner

Journal:

The American Journal of Human Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 423 KB

english, 2001

21

A Novel STX16 Deletion in Autosomal Dominant Pseudohypoparathyroidism Type Ib Redefines the Boundaries of a cis-Acting Imprinting Control Element of GNAS

Agnès Linglart, Robert C. Gensure, Robert C. Olney, Harald Jüppner, Murat Bastepe

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 1.99 MB

english, 2005

22

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

Clemens Bergwitz, Nicole M. Roslin, Martin Tieder, J.C. Loredo-Osti, Murat Bastepe, Hilal Abu-Zahra, Danielle Frappier, Kelly Burkett, Thomas O. Carpenter, Donald Anderson, Michèle Garabédian, Isabell

Journal:

The American Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 1.16 MB

english, 2006

23

De Novo STX16 Deletions: An Infrequent Cause of Pseudohypoparathyroidism Type Ib that Should Be Excluded in Sporadic Cases

Turan, Serap, Ignatius, Jaakko, Moilanen, Jukka S., Kuismin, Outi, Stewart, Helen, Mann, Nicholas P., Linglart, Agnès, Bastepe, Murat, Jüppner, Harald

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 733 KB

english, 2012

24

Pseudohypoparathyroidism, Gsα, and the GNAS locus

Bastepe, Murat, Jüppner, Harald

Journal:

BoneKEy-Osteovision

Année:

2005

Langue:

english

Fichier:

PDF, 153 KB

english, 2005

25

PSEUDOHYPOPARATHYROIDISM

Bastepe, Murat, Jüppner, Harald

Journal:

Endocrinology and Metabolism Clinics of North America

Année:

2000

Langue:

english

Fichier:

PDF, 1.21 MB

english, 2000

26

Postnatal Establishment of Allelic Gαs Silencing as a Plausible Explanation for Delayed Onset of Parathyroid Hormone Resistance Owing to Heterozygous Gαs Disruption

Turan, Serap, Fernandez-Rebollo, Eduardo, Aydin, Cumhur, Zoto, Teuta, Reyes, Monica, Bounoutas, George, Chen, Min, Weinstein, Lee S, Erben, Reinhold G, Marshansky, Vladimir, Bastepe, Murat

Journal:

Journal of Bone and Mineral Research

Année:

2014

Langue:

english

Fichier:

PDF, 765 KB

english, 2014

27

Deletion of the Noncoding GNAS Antisense Transcript Causes Pseudohypoparathyroidism Type Ib and Biparental Defects of GNAS Methylation in cis

Chillambhi, Smitha, Turan, Serap, Hwang, Daw-Yang, Chen, Hung-Chun, Jüppner, Harald, Bastepe, Murat

Journal:

Molecular Endocrinology

Année:

2010

Langue:

english

Fichier:

PDF, 38 KB

english, 2010

28

Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS

Turan, Serap, Thiele, Susanne, Tafaj, Olta, Brix, Bettina, Atay, Zeynep, Abali, Saygin, Haliloglu, Belma, Bereket, Abdullah, Bastepe, Murat

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 721 KB

english, 2015

29

The GNAS Complex Locus and Human Diseases Associated with Loss-of-Function Mutations or Epimutations within This Imprinted Gene

Turan, Serap, Bastepe, Murat

Journal:

Hormone Research in Paediatrics

Année:

2013

Langue:

english

Fichier:

PDF, 1.56 MB

english, 2013

30

Targeted deletion of the Nesp55 DMR defines anotherGnasimprinting control region and provides a mouse model of autosomal dominant PHP-Ib

Leopold F. Fröhlich, Maria Mrakovcic, Ralf Steinborn, Ung-II Chung, Murat Bastepe, Harald Jüppner and John T. Potts

Journal:

Proceedings of the National Academy of Sciences

Année:

2010

Langue:

english

Fichier:

PDF, 1.39 MB

english, 2010

31

Endocrinology: Adult and Pediatric || Pseudohypoparathyroidism, Albright’s Hereditary Osteodystrophy, and Progressive Osseous Heteroplasia

Année:

2016

Langue:

english

Fichier:

PDF, 2.23 MB

english, 2016

32

GNASSpectrum of Disorders

Turan, Serap, Bastepe, Murat

Journal:

Current Osteoporosis Reports

Année:

2015

Langue:

english

Fichier:

PDF, 722 KB

english, 2015

33

GNAS Locus and Pseudohypoparathyroidism

Bastepe, Murat, J&uuml, ppner, Harald

Journal:

Hormone Research

Année:

2005

Langue:

english

Fichier:

PDF, 330 KB

english, 2005

34

The GNAS Locus: Quintessential Complex Gene Encoding Gsα, XLαs, and other Imprinted Transcripts

Journal:

Current Genomics

Année:

2007

Langue:

english

Fichier:

PDF, 404 KB

english, 2007

35

Phenotypic and Molecular Genetic Aspects of Pseudohypoparathyroidism Type Ib in a Greek Kindred: Evidence for Enhanced Uric Acid Excretion Due to Parathyroid Hormone Resistance

Laspa, Elena, Bastepe, Murat, Jüppner, Harald, Tsatsoulis, Agathocles

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2004

Langue:

english

Fichier:

PDF, 164 KB

english, 2004

36

Extralarge XLαs (XXLαs), a Variant of Stimulatory G Protein α-Subunit (Gsα), Is a Distinct, Membrane-Anchored GNAS Product that Can Mimic Gsα

Aydin, Cumhur, Aytan, Nurgul, Mahon, Mathew J., Tawfeek, Hesham A. W., Kowall, Neil W., Dedeoglu, Alpaslan, Bastepe, Murat

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 326 KB

english, 2009

37

Coding GNAS Mutations Leading to Hormone Resistance Impair in Vitro Agonist- and Cholera Toxin-Induced Adenosine Cyclic 3′,5′-Monophosphate Formation Mediated by Human XLαs

Linglart, Agnès, Mahon, Matthew J., Kerachian, Mohammad A., Berlach, David M., Hendy, Geoffrey N., Jüppner, Harald, Bastepe, Murat

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 506 KB

english, 2006

38

Identification and Characterization of Two Parathyroid Hormone-Like Molecules in Zebrafish

Gensure, Robert C., Ponugoti, Bhaskar, Gunes, Yasemin, Papasani, Madhusudhan R., Lanske, Beate, Bastepe, Murat, Rubin, David A., Jüppner, Harald

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 316 KB

english, 2004

39

Intragenic GNAS Deletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B

Fernandez-Rebollo, Eduardo, García-Cuartero, Beatriz, Garin, Intza, Largo, Cristina, Martínez, Francisco, Garcia-Lacalle, Concepcion, Castaño, Luis, Bastepe, Murat, Pérez de Nanclares, Guiomar

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2010

Langue:

english

Fichier:

PDF, 199 KB

english, 2010

40

Transgenic Overexpression of the Extra-Large Gsα Variant XLαs Enhances Gsα-Mediated Responses in the Mouse Renal Proximal Tubule in Vivo

Liu, Zun, Segawa, Hiroko, Aydin, Cumhur, Reyes, Monica, Erben, Reinhold G., Weinstein, Lee S., Chen, Min, Marshansky, Vladimir, Fröhlich, Leopold F., Bastepe, Murat

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 1.42 MB

english, 2011

41

Pseudohypoparathyroidism and Mechanisms of Resistance toward Multiple Hormones: Molecular Evidence to Clinical Presentation

Bastepe, Murat, Jüppner, Harald

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2003

Langue:

english

Fichier:

PDF, 60 KB

english, 2003

42

Lack of Gnas Epigenetic Changes and Pseudohypoparathyroidism Type Ib in Mice with Targeted Disruption of Syntaxin-16

Fröhlich, Leopold F., Bastepe, Murat, Ozturk, Defne, Abu-Zahra, Hilal, Jüppner, Harald

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 349 KB

english, 2007

43

Mechanisms of Ligand Binding to the Parathyroid Hormone (PTH)/PTH-Related Protein Receptor: Selectivity of a Modified PTH(1–15) Radioligand for Gα S -Coupled Receptor Conformations

Dean, Thomas, Linglart, Agnes, Mahon, Matthew J., Bastepe, Murat, Jüppner, Harald, Potts, John T., Gardella, Thomas J.

Journal:

Molecular Endocrinology

Année:

2006

Langue:

english

Fichier:

PDF, 366 KB

english, 2006

44

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, Murat, Raas-Rothschild, Annick, Silver, Justin, Weissman, Irit, Wientroub, Shlomo, Jüppner, Harald, Gillis, David

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2004

Langue:

english

Fichier:

PDF, 274 KB

english, 2004

45

Identification and Functional Characterization of Novel Calcium-Sensing Receptor Mutations in Familial Hypocalciuric Hypercalcemia and Autosomal Dominant Hypocalcemia

D’Souza-Li, Lilia, Yang, Bing, Canaff, Lucie, Bai, Mei, Hanley, David A., Bastepe, Murat, Salisbury, Sonia R., Brown, Edward M., Cole, David E. C., Hendy, Geoffrey N.

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2002

Langue:

english

Fichier:

PDF, 552 KB

english, 2002

46

Deletion of the Noncoding GNAS Antisense Transcript Causes Pseudohypoparathyroidism Type Ib and Biparental Defects of GNAS Methylation in cis

Chillambhi, Smitha, Turan, Serap, Hwang, Daw-Yang, Chen, Hung-Chun, Jüppner, Harald, Bastepe, Murat

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2010

Langue:

english

Fichier:

PDF, 543 KB

english, 2010

47

Ablation of the Stimulatory G Protein α-Subunit in Renal Proximal Tubules Leads to Parathyroid Hormone-Resistance With Increased Renal Cyp24a1 mRNA Abundance and Reduced Serum 1,25-Dihydroxyvitamin D

Zhu, Yan, He, Qing, Aydin, Cumhur, Rubera, Isabelle, Tauc, Michel, Chen, Min, Weinstein, Lee S., Marshansky, Vladimir, Jüppner, Harald, Bastepe, Murat

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 1.62 MB

english, 2016

48

Intragenic GNAS Deletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B

Fernandez-Rebollo, Eduardo, García-Cuartero, Beatriz, Garin, Intza, Largo, Cristina, Martínez, Francisco, Garcia-Lacalle, Concepcion, Castaño, Luis, Bastepe, Murat, Pérez de Nanclares, Guiomar

Journal:

Molecular Endocrinology

Année:

2010

Langue:

english

Fichier:

PDF, 50 KB

english, 2010

49

Intragenic GNAS Deletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B

Fernandez-Rebollo, Eduardo, García-Cuartero, Beatriz, Garin, Intza, Largo, Cristina, Martínez, Francisco, Garcia-Lacalle, Concepcion, Castaño, Luis, Bastepe, Murat, Pérez de Nanclares, Guiomar

Journal:

Endocrine Reviews

Année:

2010

Langue:

english

Fichier:

PDF, 31 KB

english, 2010

50

Heterotrimeric G proteins in the control of parathyroid hormone actions

Bastepe, Murat, Turan, Serap, He, Qing

Journal:

Journal of Molecular Endocrinology

Année:

2017

Langue:

english

Fichier:

PDF, 2.30 MB

english, 2017