PIGA - phosphatidylinositol glycan anchor biosynthesis class A-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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5277 PIGA

基因描述

Type	Description
Definition	phosphatidylinositol glycan anchor biosynthesis class A

研究结论

Date	Results	Publications
2021-01-16 15:55:00	Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.	32694024
2021-01-09 13:28:00	Identification of acquired PIGA mutations and additional variants by next-generation sequencing in paroxysmal nocturnal hemoglobinuria.	32359022
2020-12-05 13:00:00	Lessons learned from 40 novel PIGA patients and a review of the literature.	32452540
2019-08-17 11:46:00	The presence of PIGA mutations in approximately 80% of PNH patients. No detection of any phenotypic differences between patients with and without PIGA mutation, it could not fully explain the clonal expansion of PNH cells based on PIGA mutation alone.	31037862
2019-07-20 10:09:00	REVIEW: A somatic mutation of the PIGA gene underlies the clonal disease paroxysmal nocturnal haemoglobinuria (PNH): there is direct evidence that the expansion of the PIGA mutant clone results from Darwinian selection exerted by a glycosyl-phosphatidyl-inositol -specific auto-immune attack. Thus, PNH patients are a unique subset of patients with AA, in whom haematopoiesis recovers through this escape mechanism.	29974931

名称对应

Type	IDs
Synonymous	GPI3, MCAHS2, PIG-A, PNH1
Gene	UniProtKB-ID: PIGA_HUMAN, A0A2K4ZA02_HUMAN UniprotKB: P37287, A0A2K4ZA02 UniParc: UPI0000131AAE, UPI00017A83EE, UPI000002B111 EMBL: S61523, X77725, LT976684, AK303538, D28791, X77728, LT976579, S74936, D11466, X77726, BC038236, AC095351, CH471074, X77727 Ensembl: ENSG00000165195 KO: hsa:5277
Nucleutide sequences	EMBL-CDS: CAB57276.1, BAA05966.1, AAH38236.1, BAA02019.1, BAG64564.1, AAD13929.1, AAD14160.1, EAW98879.1, SOX90652.1, SOY26182.1 Gene_ORFName: hCG_1783055 Ensembl_TRS: ENST00000542278, ENST00000482148, ENST00000634582, ENST00000333590
Protein sequencees	Ensembl_PRO: ENSP00000442653, ENSP00000489540, ENSP00000489528, ENSP00000369820 RefSeq: XP_011543841.1, NP_002632.1, NP_065206.3
Others	UniRef100: UniRef100_P37287 UniRef90: UniRef90_P37287 UniRef50: UniRef50_P37287 UniGene: Hs.137154 CCDS: CCDS14165.1, CCDS48086.2

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mRNA

Protein

UniprotKB

Description

Refseq

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全选

Pubmed编号	文献信息	发表日期	相关基因
32694024	Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases. Eur J Paediatr Neurol SÃ©bastien Cabasson , Julien Van-Gils , FrÃ©dÃ©ric VillÃ©ga , Marie-ThÃ©rÃ¨se Abi-Warde , Giulia Barcia , Leila Lazaro , Claude CancÃ©s , Jamel Chelly , Caroline Karsenty , Serge Rivera , Anne de Saint-Martin , AurÃ©lien Trimouille , Laurent Villard , Jean-Michel PÃ©despan	2020-09-01	-
32359022	Identification of acquired PIGA mutations and additional variants by next-generation sequencing in paroxysmal nocturnal hemoglobinuria. Int J Lab Hematol Jing Li , Yani Lin , Long Chen , Li Qin , Hao Tan , Junyan Zou , Donglei Zhang , Yanbo Nie , Guangjuan Wang , Hong Zhang , Enbin Liu , Xuejing Chen , Kun Ru	2020-08-01	-
32452540	Lessons learned from 40 novel PIGA patients and a review of the literature. Epilepsia Allan Bayat , Alexej Knaus , Manuela Pendziwiat , Alexandra Afenjar , Tahsin Stefan Barakat , Friedrich Bosch , Bert Callewaert , Patrick Calvas , Berten Ceulemans , Nicolas Chassaing , Christel Depienne , Milda Endziniene , Carlos R Ferreira , Carolina Fischinger Moura de Souza , CÃ©cile Freihuber , Shiva Ganesan , Svetlana Gataullina , Renzo Guerrini , Anne-Marie Guerrot , Lars Hansen , Aleksandra Jezela-Stanek , Caroline Karsenty , Anneke Kievit , Frank R Kooy , Christian M Korff , Johanne Kragh Hansen , Martin Larsen , ValÃ©rie Layet , Gaetan Lesca , Kim L McBride , Marije Meuwissen , Cyril Mignot , Martino Montomoli , Hannah Moore , Sophie Naudion , Caroline Nava , Marie-Christine Nougues , Elena Parrini , Matthew Pastore , Jurgen H Schelhaas , Steven Skinner , KrzysztoÅ SzczaÅuba , Ashley Thomas , Mads Thomassen , Lisbeth Tranebjaerg , Marjon van Slegtenhorst , Lynne A Wolfe , Dennis Lal , Elena Gardella , Lilian Bomme Ousager , Tobias BrÃ¼nger , Ingo Helbig , Peter Krawitz , Rikke S MÃ¸ller	2020-06-01	-
31037862	Clonal Cell Proliferation in Paroxysmal Nocturnal Hemoglobinuria: Evaluation of PIGA Mutations and T-cell Receptor Clonality. Ann Lab Med Joonhong Park , Myungshin Kim , Yonggoo Kim , Kyungja Han , Nack Gyun Chung , Bin Cho , Sung Eun Lee , Jong Wook Lee	2019-09-01	-
29749402	Clonal PIGA mosaicism and dynamics in paroxysmal nocturnal hemoglobinuria. Leukemia Michael J Clemente , Bartlomiej Przychodzen , Cassandra M Hirsch , Yasunobu Nagata , Taha Bat , Marcin W Wlodarski , Tomas Radivoyevitch , Hideki Makishima , Jaroslaw P Maciejewski	2018-11-01	-
29974678	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. Mol Genet Genomic Med Junli Yang , Qiong Wang , Qingcui Zhuo , Huiling Tian , Wen Li , Fang Luo , Jinghui Zhang , Dan Bi , Jing Peng , Dong Zhou , Huawei Xin	2018-09-01	-
29974931	Advances in understanding the pathogenesis of acquired aplastic anaemia. Br. J. Haematol. Lucio Luzzatto , Antonio M Risitano	2018-09-01	-
29462428	Gene mutation and micronucleus assays in gpt delta mice treated with 2,2',4,4'-tetrabromodiphenyl ether. Mutagenesis Xinyue You , Tomoko Ando , Jing Xi , Yiyi Cao , Weiying Liu , Xinyu Zhang , Masamitsu Honma , Kenichi Masumura , Yang Luan	2018-04-13	-
29427418	High Mutation Frequency of the PIGA Gene in T Cells Results in Reconstitution of GPI Anchor^-/CD52^- T Cells That Can Give Early Immune Protection after Alemtuzumab-Based T Cell-Depleted Allogeneic Stem Cell Transplantation. J. Immunol. Floris C Loeff , J H Frederik Falkenburg , Lois Hageman , Wesley Huisman , Sabrina A J Veld , H M Esther van Egmond , Marian van de Meent , Peter A von dem Borne , Hendrik Veelken , Constantijn J M Halkes , Inge Jedema	2018-03-15	-
28514442	Architecture of the human interactome defines protein communities and disease networks. Nature Edward L Huttlin , Raphael J Bruckner , Joao A Paulo , Joe R Cannon , Lily Ting , Kurt Baltier , Greg Colby , Fana Gebreab , Melanie P Gygi , Hannah Parzen , John Szpyt , Stanley Tam , Gabriela Zarraga , Laura Pontano-Vaites , Sharan Swarup , Anne E White , Devin K Schweppe , Ramin Rad , Brian K Erickson , Robert A Obar , K G Guruharsha , Kejie Li , Spyros Artavanis-Tsakonas , Steven P Gygi , J Wade Harper	2017-05-25	-

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