Bastepe, M: search on Z-Library

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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:

Year:

2005

Language:

english

File:

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

Year:

2020

File:

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:

Year:

2011

Language:

english

File:

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

Year:

2010

Language:

english

File:

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

Year:

2011

Language:

english

File:

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

Year:

2011

Language:

english

File:

PDF, 579 KB

english, 2011

7

Suppression of fever and hyperalgesic responses to the EP3-receptor agonist GR 63799X by EP3-receptor antisense in rats

L Xin, E.B Geller, M Bastepe, R.B Raffa, G-F Mao, B Ashby, M.W Adler

Journal:

Journal of Thermal Biology

Year:

2000

Language:

english

File:

PDF, 91 KB

english, 2000

8

Cyclic AMP phosphodiesterases in human lymphocytes

S. B. Sheth, K. Chaganti, M. Bastepe, J. Ajuria, K. Brennan, R. Biradavolu, R. W. Colman

Journal:

British Journal of Haematology

Year:

1997

Language:

english

File:

PDF, 727 KB

english, 1997

9

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

Murat Bastepe, Harald Jüppner

Journal:

Reviews in Endocrine & Metabolic Disorders

Year:

2008

Language:

english

File:

PDF, 248 KB

english, 2008

10

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

Year:

2007

Language:

english

File:

PDF, 221 KB

english, 2007

11

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

Year:

2004

Language:

english

File:

PDF, 302 KB

english, 2004

12

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

Year:

2006

Language:

english

File:

PDF, 138 KB

english, 2006

13

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

Year:

1999

Language:

english

File:

PDF, 438 KB

english, 1999

14

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

Year:

2006

Language:

english

File:

PDF, 627 KB

english, 2006

15

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

Year:

2006

Language:

english

File:

PDF, 85 KB

english, 2006

16

Loss of XL s (extra-large s) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib

Fernandez-Rebollo, E., Maeda, A., Reyes, M., Turan, S., Frohlich, L. F., Plagge, A., Kelsey, G., Juppner, H., Bastepe, M.

Journal:

Proceedings of the National Academy of Sciences

Year:

2012

Language:

english

File:

PDF, 757 KB

english, 2012

17

Prostaglandin E2 both stimulates and inhibits adenyl cyclase on platelets: Comparison of effects on cloned EP4 and EP3 prostaglandin receptor subtypes

G.-F. Mao, J.-G. Jin, M. Bastepe, S. Ortiz-Vega, B. Ashby

Journal:

Year:

1996

Language:

english

File:

PDF, 701 KB

english, 1996

18

Two frequent tetra-nucleotide repeat polymorphisms between VAPB and STX16 on chromosome 20q13

M Bastepe, JE Pincus, H Jüppner

Journal:

Molecular and Cellular Probes

Year:

1999

Language:

english

File:

PDF, 131 KB

english, 1999

19

Identification and characterization of two new, highly polymorphic loci adjacent to GNAS1 on chromosome 20q13.3

M Bastepe, H Jüppner

Journal:

Molecular and Cellular Probes

Year:

2000

Language:

english

File:

PDF, 79 KB

english, 2000

20

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

Year:

2006

Language:

english

File:

PDF, 576 KB

english, 2006

21

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:

Year:

2010

Language:

english

File:

PDF, 1.28 MB

english, 2010

22

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:

Year:

2011

Language:

english

File:

PDF, 716 KB

english, 2011

23

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:

Year:

2011

Language:

english

File:

PDF, 432 KB

english, 2011

24

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

Year:

2004

Language:

english

File:

PDF, 93 KB

english, 2004

25

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

Year:

2006

Language:

english

File:

PDF, 308 KB

english, 2006

26

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

Year:

2001

Language:

english

File:

PDF, 423 KB

english, 2001

27

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

Year:

2005

Language:

english

File:

PDF, 1.99 MB

english, 2005

28

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

Year:

2006

Language:

english

File:

PDF, 1.16 MB

english, 2006

29

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

Year:

2012

Language:

english

File:

PDF, 733 KB

english, 2012

30

Pseudohypoparathyroidism, Gsα, and the GNAS locus

Bastepe, Murat, Jüppner, Harald

Journal:

BoneKEy-Osteovision

Year:

2005

Language:

english

File:

PDF, 153 KB

english, 2005

31

P1-066 - Caractéristiques cliniques des différentes formes de pseudohypoparathyroidie IB (PHP IB) : autosomique dominante ou sporadique ?

Linglart, A., Bastepe, M., Carel, J.-C., Garabédian, M., Chanson, P., Jüppner, H.

Journal:

Annales d'Endocrinologie

Year:

2006

Language:

french

File:

PDF, 87 KB

french, 2006

32

CO36 - Les mutations de STX16 ou du locus GNAS causent différentes anomalies de méthylation de GNAS mais un seul type de résistance à la PTH : la pseudohypoparathyroidie-IB (PHP-IB)

Linglart, A., Bastepe, M., Carel, J.-C., Garabédian, M., Chanson, P., Papadopoulou, A., Jüppner, H.

Journal:

Annales d'Endocrinologie

Year:

2005

Language:

french

File:

PDF, 44 KB

french, 2005

33

PSEUDOHYPOPARATHYROIDISM

Bastepe, Murat, Jüppner, Harald

Journal:

Endocrinology and Metabolism Clinics of North America

Year:

2000

Language:

english

File:

PDF, 1.21 MB

english, 2000

34

The Gene Responsible for Pseudohypoparathyroidism Type Ib Is Paternally Imprinted and Maps in Four Unrelated Kindreds to Chromosome 20q13.3

H. Jüppner, E. Schipani, M. Bastepe, D. E. C. Cole, M. L. Lawson, M. Mannstadt, G. N. Hendy, H. Plotkin, H. Koshiyama, T. Koh, J. D. Crawford, B. R. Olsen and M. Vikkula

Journal:

Proceedings of the National Academy of Sciences

Year:

1998

Language:

english

File:

PDF, 1.31 MB

english, 1998

35

Pediatric Mass-Casualty Education: Experiential Learning Through University-Sponsored Disaster Simulation

Austin, Elizabeth N., Bastepe-Gray, Serap E., Nelson, H. Wayne, Breitenbach, Judith, Ogle, Kathleen T., Durry, Angela, Green, Sheila D., Crabtree, Lisa A., Haluska, Mindy

Journal:

Journal of Emergency Nursing

Year:

2014

Language:

english

File:

PDF, 357 KB

english, 2014

36

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

Year:

2014

Language:

english

File:

PDF, 765 KB

english, 2014

37

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

Year:

2010

Language:

english

File:

PDF, 38 KB

english, 2010

38

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:

Year:

2015

Language:

english

File:

PDF, 721 KB

english, 2015

39

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

Year:

2013

Language:

english

File:

PDF, 1.56 MB

english, 2013

40

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

Year:

2010

Language:

english

File:

PDF, 1.39 MB

english, 2010

41

Different Mutations Within or Upstream of the GNAS Locus Cause Distinct Forms of Pseudohypoparathyroidism

Jüppner, H., Bastepe, M.

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2006

Language:

english

File:

PDF, 1.18 MB

english, 2006

42

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

Frohlich, L. F., Mrakovcic, M., Steinborn, R., Chung, U.-I., Bastepe, M., Juppner, H.

Journal:

Proceedings of the National Academy of Sciences

Year:

2010

Language:

english

File:

PDF, 1022 KB

english, 2010

43

The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3

Juppner, H., Schipani, E., Bastepe, M., Cole, D. E. C., Lawson, M. L., Mannstadt, M., Hendy, G. N., Plotkin, H., Koshiyama, H., Koh, T., Crawford, J. D., Olsen, B. R., Vikkula, M.

Journal:

Proceedings of the National Academy of Sciences

Year:

1998

Language:

english

File:

PDF, 293 KB

english, 1998

44

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

Year:

2016

Language:

english

File:

PDF, 2.23 MB

english, 2016

45

GNASSpectrum of Disorders

Turan, Serap, Bastepe, Murat

Journal:

Current Osteoporosis Reports

Year:

2015

Language:

english

File:

PDF, 722 KB

english, 2015

46

Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysis

Sbrocchi, A. M., Rauch, F., Lawson, M. L., Hadjiyannakis, S., Lawrence, S., Bastepe, M., Juppner, H., Ward, L. M.

Journal:

European Journal of Endocrinology

Year:

2011

Language:

english

File:

PDF, 152 KB

english, 2011

47

Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo

Bastepe, M., Weinstein, L. S., Ogata, N., Kawaguchi, H., Juppner, H., Kronenberg, H. M., Chung, U.-i.

Journal:

Proceedings of the National Academy of Sciences

Year:

2004

Language:

english

File:

PDF, 693 KB

english, 2004

48

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs coding mutations and GNAS imprinting defects

Lecumberri, B., Fernandez-Rebollo, E., Sentchordi, L., Saavedra, P., Bernal-Chico, A., Pallardo, L. F., Bustos, J. M. J., Castano, L., de Santiago, M., Hiort, O., Perez de Nanclares, G., Bastepe, M.

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 773 KB

english, 2010

49

Coupling of 2-Adrenoceptors to XL s and G s: A New Insight into Ligand-Induced G Protein Activation

Kaya, A. I., Ugur, O., Oner, S. S., Bastepe, M., Onaran, H. O.

Journal:

Journal of Pharmacology and Experimental Therapeutics

Year:

2009

Language:

english

File:

PDF, 587 KB

english, 2009

50

Extra-long G s Variant XL s Protein Escapes Activation-induced Subcellular Redistribution and Is Able to Provide Sustained Signaling

Liu, Z., Turan, S., Wehbi, V. L., Vilardaga, J.-P., Bastepe, M.

Journal:

Journal of Biological Chemistry

Year:

2011

Language:

english

File:

PDF, 3.10 MB

english, 2011