PMC Links for Nucleotide (Select 1676319953) - PMC

Select item 58390011.

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome

Jean-Luc Alessandri, Christopher T. Gordon, Marie-Line Jacquemont, Nicolas Gruchy, Norbert F Ajeawung, Guillaume Benoist, Myriam Oufadem, Asma Chebil, Yannis Duffourd, Coralie Dumont, Marion Gérard, Paul Kuentz, Thibaud Jouan, Francesca Filippini, Thi Tuyet Mai Nguyen, Olivier Alibeu, Christine Bole-Feysot, Patrick Nitschké, Asma Omarjee, Duksha Ramful, Hanitra Randrianaivo, Bérénice Doray, Laurence Faivre, Jeanne Amiel, Philippe M. Campeau, Julien Thevenon

Eur J Hum Genet. 2018 Mar; 26(3): 340–349. Published online 2018 Jan 12. doi: 10.1038/s41431-017-0087-x

PMCID:: PMC5839001

Abstract Article PDF–2.0M

Select item 54773612.

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

Alistair T Pagnamenta, Yoshiko Murakami, John M Taylor, Consuelo Anzilotti, Malcolm F Howard, Venessa Miller, Diana S Johnson, Shereen Tadros, Sahar Mansour, I Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel E Harrison, Bronwen Kerr, Niko Popitsch, The DDD Study, Taroh Kinoshita, Jenny C Taylor, Usha Kini

Eur J Hum Genet. 2017 Jun; 25(6): 669–679. Published online 2017 Mar 22. doi: 10.1038/ejhg.2017.32

PMCID:: PMC5477361

Abstract Article PDF–2.2M

Select item 54447113.

PIGN gene expression aberration is associated with genomic instability and leukemic progression in acute myeloid leukemia with myelodysplastic features

Emmanuel K. Teye, Abigail Sido, Ping Xin, Niklas K. Finnberg, Prashanth Gokare, Yuka I. Kawasawa, Anna C. Salzberg, Sara Shimko, Michael Bayerl, W. Christopher Ehmann, David F. Claxton, Witold B. Rybka, Joseph J. Drabick, Hong-Gang Wang, Thomas Abraham, Wafik S. El-Deiry, Robert A. Brodsky, Raymond J. Hohl, Jeffrey J. Pu

Oncotarget. 2017 May 2; 8(18): 29887–29905. Published online 2017 Feb 7. doi: 10.18632/oncotarget.15136

PMCID:: PMC5444711

Abstract Article PDF–5.9M

Select item 251924.

MCD4 Encodes a Conserved Endoplasmic Reticulum Membrane Protein Essential for Glycosylphosphatidylinositol Anchor Synthesis in Yeast

Erin C. Gaynor, Guillaume Mondésert, Stephen J. Grimme, Steve I. Reed, Peter Orlean, Scott D. Emr

Mol Biol Cell. 1999 Mar; 10(3): 627–648. doi: 10.1091/mbc.10.3.627

PMCID:: PMC25192

Abstract Article PDF–1.0M

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