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Items: 1 to 20 of 97

1.

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

Yuan X, Li Z, Baines AC, Gavriilaki E, Ye Z, Wen Z, Braunstein EM, Biesecker LG, Cheng L, Dong X, Brodsky RA.

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

2.

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.

Johnston JJ, Gropman AL, Sapp JC, Teer JK, Martin JM, Liu CF, Yuan X, Ye Z, Cheng L, Brodsky RA, Biesecker LG.

Am J Hum Genet. 2012 Feb 10;90(2):295-300. doi: 10.1016/j.ajhg.2011.11.031. Epub 2012 Feb 2.

3.

Generation of glycosylphosphatidylinositol anchor protein-deficient blood cells from human induced pluripotent stem cells.

Yuan X, Braunstein EM, Ye Z, Liu CF, Chen G, Zou J, Cheng L, Brodsky RA.

Stem Cells Transl Med. 2013 Nov;2(11):819-29. doi: 10.5966/sctm.2013-0069. Epub 2013 Oct 10.

4.

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

Fauth C, Steindl K, Toutain A, Farrell S, Witsch-Baumgartner M, Karall D, Joset P, Böhm S, Baumer A, Maier O, Zschocke J, Weksberg R, Marshall CR, Rauch A.

Am J Med Genet A. 2016 Feb;170A(2):392-402. doi: 10.1002/ajmg.a.37452. Epub 2015 Nov 6.

PMID:
26545172
5.

A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Yang J, Wang Q, Zhuo Q, Tian H, Li W, Luo F, Zhang J, Bi D, Peng J, Zhou D, Xin H.

Mol Genet Genomic Med. 2018 Sep;6(5):739-748. doi: 10.1002/mgg3.428. Epub 2018 Jul 4.

6.

Glycophosphatidylinositol-anchored protein deficiency as a marker of mutator phenotypes in cancer.

Chen R, Eshleman JR, Brodsky RA, Medof ME.

Cancer Res. 2001 Jan 15;61(2):654-8.

7.
8.

A scale out approach towards neural induction of human induced pluripotent stem cells for neurodevelopmental toxicity studies.

Miranda CC, Fernandes TG, Pinto SN, Prieto M, Diogo MM, Cabral JMS.

Toxicol Lett. 2018 Sep 15;294:51-60. doi: 10.1016/j.toxlet.2018.05.018. Epub 2018 May 21.

PMID:
29775723
9.

Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.

Belet S, Fieremans N, Yuan X, Van Esch H, Verbeeck J, Ye Z, Cheng L, Brodsky BR, Hu H, Kalscheuer VM, Brodsky RA, Froyen G.

Hum Mutat. 2014 Mar;35(3):350-5. doi: 10.1002/humu.22498. Epub 2014 Jan 13.

PMID:
24357517
10.

Neural patterning of human induced pluripotent stem cells in 3-D cultures for studying biomolecule-directed differential cellular responses.

Yan Y, Bejoy J, Xia J, Guan J, Zhou Y, Li Y.

Acta Biomater. 2016 Sep 15;42:114-126. doi: 10.1016/j.actbio.2016.06.027. Epub 2016 Jun 23.

PMID:
27345135
11.

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.

Swoboda KJ, Margraf RL, Carey JC, Zhou H, Newcomb TM, Coonrod E, Durtschi J, Mallempati K, Kumanovics A, Katz BE, Voelkerding KV, Opitz JM.

Am J Med Genet A. 2014 Jan;164A(1):17-28. doi: 10.1002/ajmg.a.36189. Epub 2013 Nov 20.

12.

Increased sensitivity to complement and a decreased red blood cell life span in mice mosaic for a nonfunctional Piga gene.

Tremml G, Dominguez C, Rosti V, Zhang Z, Pandolfi PP, Keller P, Bessler M.

Blood. 1999 Nov 1;94(9):2945-54.

13.

Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

van der Crabben SN, Harakalova M, Brilstra EH, van Berkestijn FM, Hofstede FC, van Vught AJ, Cuppen E, Kloosterman W, Ploos van Amstel HK, van Haaften G, van Haelst MM.

Am J Med Genet A. 2014 Jan;164A(1):29-35. doi: 10.1002/ajmg.a.36184. Epub 2013 Nov 20. Review.

PMID:
24259184
14.

Glycoconjugates reveal diversity of human neural stem cells (hNSCs) derived from human induced pluripotent stem cells (hiPSCs).

Kandasamy M, Roll L, Langenstroth D, Brüstle O, Faissner A.

Cell Tissue Res. 2017 Jun;368(3):531-549. doi: 10.1007/s00441-017-2594-z. Epub 2017 Mar 15.

PMID:
28299522
15.

Glycosyl phosphatidylinositol anchor biosynthesis is essential for maintaining epithelial integrity during Caenorhabditis elegans embryogenesis.

Budirahardja Y, Doan TD, Zaidel-Bar R.

PLoS Genet. 2015 Mar 25;11(3):e1005082. doi: 10.1371/journal.pgen.1005082. eCollection 2015 Mar.

16.
17.

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.

Kato M, Saitsu H, Murakami Y, Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N.

Neurology. 2014 May 6;82(18):1587-96. doi: 10.1212/WNL.0000000000000389. Epub 2014 Apr 4.

PMID:
24706016
19.

Human iPSC-Derived Neural Progenitors Are an Effective Drug Discovery Model for Neurological mtDNA Disorders.

Lorenz C, Lesimple P, Bukowiecki R, Zink A, Inak G, Mlody B, Singh M, Semtner M, Mah N, Auré K, Leong M, Zabiegalov O, Lyras EM, Pfiffer V, Fauler B, Eichhorst J, Wiesner B, Huebner N, Priller J, Mielke T, Meierhofer D, Izsvák Z, Meier JC, Bouillaud F, Adjaye J, Schuelke M, Wanker EE, Lombès A, Prigione A.

Cell Stem Cell. 2017 May 4;20(5):659-674.e9. doi: 10.1016/j.stem.2016.12.013. Epub 2017 Jan 26.

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