PMC Links for Protein (Select 116242967) - PMC

Select item 12261091.

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

Am J Hum Genet. 2001 May; 68(5): 1283–1289. Published online 2001 Apr 9. doi: 10.1086/320117

PMCID:: PMC1226109

Abstract Article PDF–229K

Select item 11993702.

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

Am J Hum Genet. 2005 May; 76(5): 804–814. Published online 2005 Mar 30. doi: 10.1086/429932

Correction in:: Am J Hum Genet. 2007 Jul; 81(1): 196.

PMCID:: PMC1199370

Abstract Article PDF–541K

Select item 11803703.

Discordance between Genetic and Epigenetic Defects in Pseudohypoparathyroidism Type 1b Revealed by Inconsistent Loss of Maternal Imprinting at GNAS1

Suzanne Jan de Beur, Changlin Ding, Emily Germain-Lee, Justin Cho, Alexander Maret, Michael A. Levine

Am J Hum Genet. 2003 Aug; 73(2): 314–322. Published online 2003 Jul 11. doi: 10.1086/377136

PMCID:: PMC1180370

Abstract Article PDF–310K

Select item 4204004.

XLαs, the extra-long form of the α-subunit of the Gs G protein, is significantly longer than suspected, and so is its companion Alex

Joel Abramowitz, Dagoberto Grenet, Mariel Birnbaumer, Hector N. Torres, Lutz Birnbaumer

Proc Natl Acad Sci U S A. 2004 Jun 1; 101(22): 8366–8371. Published online 2004 May 17. doi: 10.1073/pnas.0308758101

PMCID:: PMC420400

Abstract Article PDF–1.1M

Select item 3014175.

A GNAS1 imprinting defect in pseudohypoparathyroidism type IB

Jie Liu, Deborah Litman, Marjorie J. Rosenberg, Shuhua Yu, Leslie G. Biesecker, Lee S. Weinstein

J Clin Invest. 2000 Nov 1; 106(9): 1167–1174. doi: 10.1172/JCI10431

PMCID:: PMC301417

Abstract Article PDF–545K

Select item 2134936.

Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS

Murat Bastepe, Leopold F. Fröhlich, Geoffrey N. Hendy, Olafur S. Indridason, Robert G. Josse, Hiroyuki Koshiyama, Jarmo Körkkö, Jon M. Nakamoto, Arlan L. Rosenbloom, Arnold H. Slyper, Toshitsugu Sugimoto, Agathocles Tsatsoulis, John D. Crawford, Harald Jüppner

J Clin Invest. 2003 Oct 15; 112(8): 1255–1263. doi: 10.1172/JCI19159

PMCID:: PMC213493

Abstract Article PDF–875K

Select item 65336997.

Exploiting orthology and de novo transcriptome assembly to refine target sequence information

Julia F. Söllner, Germán Leparc, Matthias Zwick, Tanja Schönberger, Tobias Hildebrandt, Kay Nieselt, Eric Simon

BMC Med Genomics. 2019; 12: 69. Published online 2019 May 23. doi: 10.1186/s12920-019-0524-5

PMCID:: PMC6533699

Abstract Article PDF–1.9M

Select item 57036458.

Deep transcriptome annotation enables the discovery and functional characterization of cryptic small proteins

Sondos Samandi, Annie V Roy, Vivian Delcourt, Jean-François Lucier, Jules Gagnon, Maxime C Beaudoin, Benoît Vanderperre, Marc-André Breton, Julie Motard, Jean-François Jacques, Mylène Brunelle, Isabelle Gagnon-Arsenault, Isabelle Fournier, Aida Ouangraoua, Darel J Hunting, Alan A Cohen, Christian R Landry, Michelle S Scott, Xavier Roucou

eLife. 2017; 6: e27860. Published online 2017 Oct 30. doi: 10.7554/eLife.27860

PMCID:: PMC5703645

Abstract Article PDF–3.0M

Select item 56383259.

PICKLE 2.0: A human protein-protein interaction meta-database employing data integration via genetic information ontology

Aris Gioutlakis, Maria I. Klapa, Nicholas K. Moschonas

PLoS One. 2017; 12(10): e0186039. Published online 2017 Oct 12. doi: 10.1371/journal.pone.0186039

PMCID:: PMC5638325

Abstract Article PDF–3.4M

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