PMC Links for Nucleotide (Select 918410282) - PMC

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Items: 5

Select item 56439711.

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes

Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Soheila Sotoudeh, Hamidreza Mahmoudi, Maryam Daneshpazhooh, Nessa Aghazadeh, Rebecca Adams, Alireza Ghanadan, Sirous Zeinali, Paolo Fortina, Jouni Uitto

Eur J Hum Genet. 2017 Nov; 25(11): 1282–1285. Published online 2017 Sep 6. doi: 10.1038/ejhg.2017.137

PMCID:: PMC5643971

Abstract Article PDF–2.1M

Select item 48171782.

Enzyme Activities of the Ceramide Synthases CERS2–6 Are Regulated by Phosphorylation in the C-terminal Region

Takayuki Sassa, Taisuke Hirayama, Akio Kihara

J Biol Chem. 2016 Apr 1; 291(14): 7477–7487. Published online 2016 Feb 17. doi: 10.1074/jbc.M115.695858

PMCID:: PMC4817178

Abstract Article PDF–1.8M

Select item 36750293.

Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

Franz P. W. Radner, Slaheddine Marrakchi, Peter Kirchmeier, Gwang-Jin Kim, Florence Ribierre, Bourane Kamoun, Leila Abid, Michael Leipoldt, Hamida Turki, Werner Schempp, Roland Heilig, Mark Lathrop, Judith Fischer

PLoS Genet. 2013 Jun; 9(6): e1003536. Published online 2013 Jun 6. doi: 10.1371/journal.pgen.1003536

Correction in:: PLoS Genet. 2013 Jun; 9(6): 10.1371/annotation/df5af830-8e1d-495a-a206-f881ed85e7fe.

PMCID:: PMC3675029

Abstract Article PDF–11M

Select item 24423224.

Male Germ Cells Require Polyenoic Sphingolipids with Complex Glycosylation for Completion of Meiosis: A LINK TO CERAMIDE SYNTHASE-3

Mariona Rabionet, Aarnoud C. van der Spoel, Chia-Chen Chuang, Benita von Tümpling-Radosta, Manja Litjens, Diane Bouwmeester, Christina C. Hellbusch, Christian Körner, Herbert Wiegandt, Karin Gorgas, Frances M. Platt, Hermann-Josef Gröne, Roger Sandhoff

J Biol Chem. 2008 May 9; 283(19): 13357–13369. doi: 10.1074/jbc.M800870200