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Items: 11

Select item 65570001.

Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages

Marian Seda, Emma Peskett, Charalambos Demetriou, Dale Bryant, Gudrun E. Moore, Philip Stanier, Dagan Jenkins

Version 1. F1000Res. 2019; 8: 273. Published online 2019 Mar 11. doi: 10.12688/f1000research.17314.1

PMCID:: PMC6557000

Abstract Article PDF–2.2M

Select item 64047572.

Lenz-Majewski syndrome: How a single mutation leads to complex changes in lipid metabolism

Mira Sohn, Tamas Balla

J Rare Dis Res Treat. Author manuscript; available in PMC 2019 Mar 7.

Published in final edited form as: J Rare Dis Res Treat. 2016; 2(1): 47–51. Published online 2016 Dec 29. doi: 10.29245/2572-9411/2017/1.1080

PMCID:: PMC6404757

Abstract Article PDF–246K

Select item 91790203.

De novo loss-of-function variant in PTDSS1 is associated with developmental delay

Sara Gracie, Nivedita Sengupta, Carlos Ferreira, Joshua Pemberton, Ilse Anderson, Xin Wang, Lindsay Rhodes, Kathleen Brown, Tamas Balla, Austin Larson

Am J Med Genet A. Author manuscript; available in PMC 2023 Jun 1.

Published in final edited form as: Am J Med Genet A. 2022 Jun; 188(6): 1739–1745. Published online 2022 Feb 27. doi: 10.1002/ajmg.a.62695

PMCID:: PMC9179020

Abstract Article PDF–799K

Select item 85213064.

Topology of phosphatidylserine synthase 1 in the endoplasmic reticulum membrane

Non Miyata, Osamu Kuge

Protein Sci. 2021 Nov; 30(11): 2346–2353. Published online 2021 Sep 22. doi: 10.1002/pro.4182

PMCID:: PMC8521306

Abstract Article PDF–1.4M

Select item 58385275.

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 48434786.

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 106415327.

Sari Sugahara, Yuki Ishino, Koki Sawada, Tsumugi Iwata, Yuta Shimanaka, Junken Aoki, Hiroyuki Arai, Nozomu Kono

J Lipid Res. 2023 Nov; 64(11): 100443. Published online 2023 Sep 14. doi: 10.1016/j.jlr.2023.100443

PMCID:: PMC10641532

Abstract Article PDF–4.0M

Select item 95777678.

Selection of fertilization strategies for different sperm parameters in vitro fertilization

Lingling Qiu, Jinxiang Wu, Jing Chen, Hui Cao, Jingjing Cai, Xiaolan Huang, Ruiyun Wu, Yuanzhi Xie, Renata Finelli, Yali He, Suzhen Huang, Zhengyao Wang

Ann Transl Med. 2022 Sep; 10(18): 996. doi: 10.21037/atm-22-4308