PMC Links for Nucleotide (Select 1653962333) - PMC

Select item 58385271.

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

Juliette Piard, James Lespinasse, Marketa Vlckova, Martin A. Mensah, Sorin Iurian, Martina Simandlova, Marcela Malikova, Oliver Bartsch, Massimiliano Rossi, Marion Lenoir, Frédérique Nugues, Stefan Mundlos, Uwe Kornak, Philip Stanier, Sérgio B. Sousa, Lionel Van Maldergem

Am J Med Genet A. 2018 Mar; 176(3): 668–675. Published online 2018 Jan 17. doi: 10.1002/ajmg.a.38604

PMCID:: PMC5838527

Abstract Article PDF–8.8M

Select item 48434782.

Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions

Mira Sohn, Pavlina Ivanova, H. Alex Brown, Daniel J. Toth, Peter Varnai, Yeun Ju Kim, Tamas Balla

Proc Natl Acad Sci U S A. 2016 Apr 19; 113(16): 4314–4319. Published online 2016 Apr 4. doi: 10.1073/pnas.1525719113

PMCID:: PMC4843478

Abstract Article PDF–1.3M

Select item 47054753.

RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism

Jihane Soueid, Silva Kourtian, Nadine J. Makhoul, Joelle Makoukji, Sariah Haddad, Simona S. Ghanem, Firas Kobeissy, Rose-Mary Boustany

Sci Rep. 2016; 6: 19088. Published online 2016 Jan 8. doi: 10.1038/srep19088

PMCID:: PMC4705475

Abstract Article PDF–1.1M

Select item 35225874.

Novel Genetic Loci Identified for the Pathophysiology of Childhood Obesity in the Hispanic Population

Anthony G. Comuzzie, Shelley A. Cole, Sandra L. Laston, V. Saroja Voruganti, Karin Haack, Richard A. Gibbs, Nancy F. Butte

PLoS One. 2012; 7(12): e51954. Published online 2012 Dec 14. doi: 10.1371/journal.pone.0051954

PMCID:: PMC3522587

Abstract Article PDF–130K

Select item 31395205.

CD4⁺ T-Cell Decline after the Interruption of Antiretroviral Therapy in ACTG A5170 Is Predicted by Differential Expression of Genes in the Ras Signaling Pathway

Maryanne T. Vahey, Zhining Wang, Zhaohui Su, Martin E. Nau, Amy Krambrink, Daniel J. Skiest, David M. Margolis

AIDS Res Hum Retroviruses. 2008 Aug; 24(8): 1047–1066. doi: 10.1089/aid.2008.0059

PMCID:: PMC3139520

Abstract Article PDF–782K

Select item 27404606.

A Novel Mitochondrial Sphingomyelinase in Zebrafish Cells

Takeshi Yabu, Akio Shimuzu, Michiaki Yamashita

J Biol Chem. 2009 Jul 24; 284(30): 20349–20363. Published online 2009 May 8. doi: 10.1074/jbc.M109.004580

PMCID:: PMC2740460

Abstract Article PDF–3.3M

Select item 22589717.

Mitochondrial and Secretory Human Cytomegalovirus UL37 Proteins Traffic into Mitochondrion-Associated Membranes of Human Cells

Petros Bozidis, Chad D. Williamson, Anamaris M. Colberg-Poley

J Virol. 2008 Mar; 82(6): 2715–2726. Published online 2008 Jan 16. doi: 10.1128/JVI.02456-07

PMCID:: PMC2258971

Abstract Article PDF–1.0M

Select item 13802368.

Single-Nucleotide Polymorphisms in NAGNAG Acceptors Are Highly Predictive for Variations of Alternative Splicing

Michael Hiller, Klaus Huse, Karol Szafranski, Niels Jahn, Jochen Hampe, Stefan Schreiber, Rolf Backofen, Matthias Platzer

Am J Hum Genet. 2006 Feb; 78(2): 291–302. Published online 2005 Dec 22. doi: 10.1086/500151

Correction in:: Am J Hum Genet. 2006 Apr; 78(4): 733.

PMCID:: PMC1380236

Abstract Article PDF–715K

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