PMC Links for Protein (Select 7662647) - PMC - NCBI

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Items: 5

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

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

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

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

Article PDF–130K

Select item 54700445.

Autophagosome formation is initiated at phosphatidylinositol synthase‐enriched ER subdomains

Taki Nishimura, Norito Tamura, Nozomu Kono, Yuta Shimanaka, Hiroyuki Arai, Hayashi Yamamoto, Noboru Mizushima

EMBO J. 2017 Jun 14; 36(12): 1719–1735. Published online 2017 May 11. doi: 10.15252/embj.201695189

PMCID:: PMC5470044

Article PDF–2.6M

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