PMC Articles for MedGen (Select 906509) - PMC

Links from MedGen

Items: 1 to 20 of 46

<< First< Prev

Page of 3

Select item 56510941.

A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers

Yonatan Perez, Ohad Wormser, Yair Sadaka, Ruth Birk, Ginat Narkis, Ohad S. Birk

Biomed Res Int. 2017; 2017: 3470234. Published online 2017 Oct 8. doi: 10.1155/2017/3470234

PMCID:: PMC5651094

Abstract Article PDF–1.7M

Select item 57598412.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S. Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven Skinner, Raymond Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endziniene, Fanny Kortüm, Natasha Brown, Peter N. Robinson, Helenius J. Schelhaas, Yvonne Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter M. Krawitz

Genome Med. 2018; 10: 3. Published online 2018 Jan 9. doi: 10.1186/s13073-017-0510-5

PMCID:: PMC5759841

Abstract Article PDF–842K

Select item 63940753.

Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report

Li’na Fu, Yan Liu, Yu Chen, Yi Yuan, Wei Wei

BMC Pediatr. 2019; 19: 68. Published online 2019 Feb 27. doi: 10.1186/s12887-019-1440-8

PMCID:: PMC6394075

Abstract Article PDF–1000K

Select item 40232164.

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

Denise Horn, Dagmar Wieczorek, Kay Metcalfe, Ivo Barić, Lidija Paležac, Mario Ćuk, Danijela Petković Ramadža, Ulrike Krüger, Stephanie Demuth, Wolfram Heinritz, Tobias Linden, Jens Koenig, Peter N Robinson, Peter Krawitz

Eur J Hum Genet. 2014 Jun; 22(6): 762–767. Published online 2013 Oct 16. doi: 10.1038/ejhg.2013.241

PMCID:: PMC4023216

Abstract Article PDF–1.5M

Select item 33076425.

Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata

Noriyuki Kanzawa, Nobuyuki Shimozawa, Ronald J. A. Wanders, Kazutaka Ikeda, Yoshiko Murakami, Hans R. Waterham, Satoru Mukai, Morihisa Fujita, Yusuke Maeda, Ryo Taguchi, Yukio Fujiki, Taroh Kinoshita

J Lipid Res. 2012 Apr; 53(4): 653–663. doi: 10.1194/jlr.M021204

PMCID:: PMC3307642

Abstract Article PDF–1.5M

Select item 54453086.

PIGO deficiency: palmoplantar keratoderma and novel mutations

Marie-Anne Morren, Jaak Jaeken, Gepke Visser, Isabelle Salles, Chris Van Geet, NIHR BioResource, Ilenia Simeoni, Ernest Turro, Kathleen Freson

Orphanet J Rare Dis. 2017; 12: 101. Published online 2017 May 25. doi: 10.1186/s13023-017-0654-9

PMCID:: PMC5445308

Abstract Article PDF–5.3M

Select item 54048677.

A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model

Xuan Yuan, Zhe Li, Andrea C. Baines, Eleni Gavriilaki, Zhaohui Ye, Zhexing Wen, Evan M. Braunstein, Leslie G. Biesecker, Linzhao Cheng, Xinzhong Dong, Robert A. Brodsky

PLoS One. 2017; 12(4): e0174074. Published online 2017 Apr 25. doi: 10.1371/journal.pone.0174074

PMCID:: PMC5404867

Abstract Article PDF–9.7M

Select item 49629818.

Chemogenetic E-MAP in Saccharomyces cerevisiae for Identification of Membrane Transporters Operating Lipid Flip Flop

Hector M. Vazquez, Christine Vionnet, Carole Roubaty, Shamroop k. Mallela, Roger Schneiter, Andreas Conzelmann

PLoS Genet. 2016 Jul; 12(7): e1006160. Published online 2016 Jul 27. doi: 10.1371/journal.pgen.1006160

PMCID:: PMC4962981

Abstract Article PDF–7.8M

Select item 47951989.

Cerebral visual impairment and intellectual disability caused by PGAP1 variants

Daniëlle G M Bosch, F Nienke Boonstra, Taroh Kinoshita, Shalini Jhangiani, Joep de Ligt, Frans P M Cremers, James R Lupski, Yoshiko Murakami, Bert B A de Vries

Eur J Hum Genet. 2015 Dec; 23(12): 1689–1693. Published online 2015 Mar 25. doi: 10.1038/ejhg.2015.42

PMCID:: PMC4795198

Abstract Article PDF–839K

Select item 437353010.

Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)

Bobby G. Ng, Hudson H. Freeze

J Inherit Metab Dis. Author manuscript; available in PMC 2015 Mar 25.

Published in final edited form as: J Inherit Metab Dis. 2015 Jan; 38(1): 171–178. Published online 2014 Aug 28. doi: 10.1007/s10545-014-9752-1

PMCID:: PMC4373530

Abstract Article PDF–427K

Select item 390617211.

Complementation of Essential Yeast GPI Mannosyltransferase Mutations Suggests a Novel Specificity for Certain Trypanosoma and Plasmodium PigB Proteins

Leslie K. Cortes, John J. Scarcelli, Christopher H. Taron

PLoS One. 2014; 9(1): e87673. Published online 2014 Jan 29. doi: 10.1371/journal.pone.0087673

PMCID:: PMC3906172

Abstract Article PDF–900K

Select item 349424812.

Assessing mechanisms of GPIHBP1 and lipoprotein lipase movement across endothelial cells

Brandon S. J. Davies, Chris N. Goulbourne, Richard H. Barnes, II, Kirsten A. Turlo, Peter Gin, Sue Vaughan, David J. Vaux, André Bensadoun, Anne P. Beigneux, Loren G. Fong, Stephen G. Young

J Lipid Res. 2012 Dec; 53(12): 2690–2697. doi: 10.1194/jlr.M031559

PMCID:: PMC3494248

Abstract Article PDF–1.4M

Select item 341713113.

Lipoprotein lipase deficiency in chronic kidney disease is accompanied by down-regulation of endothelial GPIHBP1 expression

Nosratola D. Vaziri, Jun Yuan, Zhenmin Ni, Susanne B. Nicholas, Keith C. Norris

Clin Exp Nephrol. Author manuscript; available in PMC 2012 Aug 12.

Published in final edited form as: Clin Exp Nephrol. 2012 Apr; 16(2): 238–243. Published online 2011 Oct 19. doi: 10.1007/s10157-011-0549-3

PMCID:: PMC3417131

Abstract Article PDF–966K

Select item 3095814.

Requirement of the Lec35 Gene for All Known Classes of Monosaccharide-P-Dolichol-dependent Glycosyltransferase Reactions in Mammals

Monika Anand, Jeffrey S. Rush, Sutapa Ray, Marie-Agnes Doucey, Jennifer Weik, Felecia E. Ware, Jan Hofsteenge, Charles J. Waechter, Mark A. Lehrman

Mol Biol Cell. 2001 Feb; 12(2): 487–501. doi: 10.1091/mbc.12.2.487

PMCID:: PMC30958

Abstract Article PDF–346K

Select item 325608615.

Activities of E1210 and Comparator Agents Tested by CLSI and EUCAST Broth Microdilution Methods against Fusarium and Scedosporium Species Identified Using Molecular Methods

Mariana Castanheira, Frederick P. Duncanson, Daniel J. Diekema, Josep Guarro, Ronald N. Jones, Michael A. Pfaller

Antimicrob Agents Chemother. 2012 Jan; 56(1): 352–357. doi: 10.1128/AAC.05414-11

PMCID:: PMC3256086

Abstract Article PDF–153K

Select item 310335216.

Assessing the Role of the Glycosylphosphatidylinositol-anchored High Density Lipoprotein-binding Protein 1 (GPIHBP1) Three-finger Domain in Binding Lipoprotein Lipase

Anne P. Beigneux, Brandon S. J. Davies, Shelly Tat, Jenny Chen, Peter Gin, Constance V. Voss, Michael M. Weinstein, André Bensadoun, Clive R. Pullinger, Loren G. Fong, Stephen G. Young

J Biol Chem. 2011 Jun 3; 286(22): 19735–19743. Published online 2011 Apr 7. doi: 10.1074/jbc.M111.242024

PMCID:: PMC3103352

Abstract Article PDF–3.4M

Select item 300354717.

Expression of functional bacterial undecaprenyl pyrophosphate synthase in the yeast rer2Δ mutant and CHO cells

Jeffrey S Rush, Sergey Matveev, Ziqiang Guan, Christian R H Raetz, C J Waechter

Glycobiology. 2010 Dec; 20(12): 1585–1593. Published online 2010 Aug 4. doi: 10.1093/glycob/cwq107

PMCID:: PMC3003547

Abstract Article PDF–256K

Select item 287175718.

Integration of Mutation and Chromosomal Damage Endpoints into 28-Day Repeat Dose Toxicology Studies

Stephen D. Dertinger, Souk Phonethepswath, Dean Franklin, Pamela Weller, Dorothea K. Torous, Steven M. Bryce, Svetlana Avlasevich, Jeffrey C. Bemis, Ollivier Hyrien, James Palis, James T. MacGregor

Toxicol Sci. 2010 Jun; 115(2): 401–411. Published online 2010 Mar 4. doi: 10.1093/toxsci/kfq070

PMCID:: PMC2871757

Abstract Article PDF–1003K

Select item 167968819.

PER1 Is Required for GPI-Phospholipase A₂ Activity and Involved in Lipid Remodeling of GPI-anchored Proteins

Morihisa Fujita, Mariko Umemura, Takehiko Yoko-o, Yoshifumi Jigami

Mol Biol Cell. 2006 Dec; 17(12): 5253–5264. doi: 10.1091/mbc.E06-08-0715

PMCID:: PMC1679688

Abstract Article PDF–1.9M

Select item 136441020.

Cross-linking of the CAMPATH-1 antigen (CD52) mediates growth inhibition in human B- and T-lymphoma cell lines, and subsequent emergence of CD52-deficient cells.

W Rowan, J Tite, P Topley, S J Brett

Immunology. 1998 Nov; 95(3): 427–436. doi: 10.1046/j.1365-2567.1998.00615.x

PMCID:: PMC1364410

Summary Page Browse PDF–1.8M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 46

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity