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

Por Bastepe, Murat
Publicado em 2007

Identification of a region of the C-terminal domain involved in short-term desensitization of the prostaglandin EP(4) receptor

Por Bastepe, Murat, Ashby, Barrie
Publicado em 1999

The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene

Por Turan, Serap, Bastepe, Murat
Publicado em 2013

GNAS spectrum of disorders

Por Turan, Serap, Bastepe, Murat
Publicado no Curr Osteoporos Rep (2015)

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

Por Bastepe, Murat, Lane, Andrew H., Jüppner, Harald
Publicado em 2001

The G protein α-subunit variant XLαs promotes G(q/11)-dependent signaling and mediates the renal actions of parathyroid hormone in vivo

Por He, Qing, Zhu, Yan, Corbin, Braden A., Plagge, Antonius, Bastepe, Murat
Publicado no Sci Signal (2015)

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

Por Linglart, Agnès, Gensure, Robert C., Olney, Robert C., Jüppner, Harald, Bastepe, Murat
Publicado em 2005

Extra-long Gαs Variant XLαs Protein Escapes Activation-induced Subcellular Redistribution and Is Able to Provide Sustained Signaling

Por Liu, Zun, Turan, Serap, Wehbi, Vanessa L., Vilardaga, Jean-Pierre, Bastepe, Murat
Publicado em 2011

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

Por Fröhlich, Leopold F., Mrakovcic, Maria, Steinborn, Ralf, Chung, Ung-Il, Bastepe, Murat, Jüppner, Harald
Publicado em 2010

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

Por Chillambhi, Smitha, Turan, Serap, Hwang, Daw-Yang, Chen, Hung-Chun, Jüppner, Harald, Bastepe, Murat
Publicado em 2010

Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib

Por Turan, Serap, Akin, Leyla, Akcay, Teoman, Adal, Erdal, Sarikaya, Sevil, Bastepe, Murat, Jüppner, Harald
Publicado em 2010

Paternal Uniparental Isodisomy of the Entire Chromosome 20 as a Molecular Cause of Pseudohypoparathyroidism Type Ib (PHP-Ib)

Por Bastepe, Murat, Altug-Teber, Özge, Agarwal, Chhavi, Oberfield, Sharon E., Bonin, Michael, Jüppner, Harald
Publicado em 2010

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

Por Bastepe, Murat, Weinstein, Lee S., Ogata, Naoshi, Kawaguchi, Hiroshi, Jüppner, Harald, Kronenberg, Henry M., Chung, Ung-il
Publicado em 2004

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

Por Mariot, Virginie, Wu, Joy Y., Aydin, Cumhur, Mantovani, Giovanna, Mahon, Matthew J., Linglart, Agnès, Bastepe, Murat
Publicado em 2010

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...

Por Dean, Thomas, Linglart, Agnes, Mahon, Matthew J., Bastepe, Murat, Jüppner, Harald, Potts, John T., Gardella, Thomas J.
Publicado em 2005

A Novel T55A Variant of G(s) α Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis

Por Wentworth, Kelly, Hsing, Alyssa, Urrutia, Ashley, Zhu, Yan, Horvai, Andrew E., Bastepe, Murat, Hsiao, Edward C.
Publicado no Case Rep Endocrinol (2016)

Identification of a Novel Dentin Matrix Protein-1 (DMP-1) Mutation and Dental Anomalies in a Kindred with Autosomal Recessive Hypophosphatemia

Por Turan, Serap, Aydin, Cumhur, Bereket, Abdullah, Akcay, Teoman, Güran, Tülay, Yaralioglu, Betul Akmen, Bastepe, Murat, Jüppner, Harald
Publicado em 2009

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

Por Thiele, Susanne, de Sanctis, Luisa, Werner, Ralf, Grötzinger, Joachim, Aydin, Cumhur, Jüppner, Harald, Bastepe, Murat, Hiort, Olaf
Publicado em 2011

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

Por Aydin, Cumhur, Aytan, Nurgul, Mahon, Mathew J., Tawfeek, Hesham A. W., Kowall, Neil W., Dedeoglu, Alpaslan, Bastepe, Murat
Publicado em 2009

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

Por Turan, Serap, Thiele, Susanne, Tafaj, Olta, Brix, Bettina, Atay, Zeynep, Abali, Saygin, Haliloglu, Belma, Bereket, Abdullah, Bastepe, Murat
Publicado no Bone (2014)