Citations for
1GPIBD20, HPMR, HPMRS4, MCAHS, MCAHS2, PGAP3, PIGA, PIGN, PIGU, PIGV
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.
Knaus A, Kortüm F, Kleefstra T, Stray-Pedersen A, Đukić D, Murakami Y, Gerstner T, van Bokhoven H, Iqbal Z, Horn D, Kinoshita T, Hempel M, Krawitz PM.
Am J Hum Genet 105(2):395-402. doi: 10.1016/j.ajhg.2019.06.009. Epub 2019 Jul 25. 2019
2MCAHS, MCAHS2, PIGA, PIGN
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.
Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller RS, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, Robinson PN, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, Krawitz PM.
Genome Med 10(1):3. doi: 10.1186/s13073-017-0510-5. 2018
3MCAHS, PIGN
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.
Alessandri JL, Gordon CT, Jacquemont ML, Gruchy N, Ajeawung NF, Benoist G, Oufadem M, Chebil A, Duffourd Y, Dumont C, Gérard M, Kuentz P, Jouan T, Filippini F, Nguyen TTM, Alibeu O, Bole-Feysot C, Nitschké P, Omarjee A, Ramful D, Randrianaivo H, Doray B, Faivre L, Amiel J, Campeau PM, Thevenon J.
Eur J Hum Genet 26(3):340-349. doi: 10.1038/s41431-017-0087-x. Epub 2018 Jan 12. 2018
4MCAHS, PIGN
Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.
Thiffault I, Zuccarelli B, Welsh H, Yuan X, Farrow E, Zellmer L, Miller N, Soden S, Abdelmoity A, Brodsky RA, Saunders C.
BMC Med Genet 18(1):124. doi: 10.1186/s12881-017-0481-9. 2017
5PIGN
PIGN gene expression aberration is associated with genomic instability and leukemic progression in acute myeloid leukemia with myelodysplastic features.
Teye EK, Sido A, Xin P, Finnberg NK, Gokare P, Kawasawa YI, Salzberg AC, Shimko S, Bayerl M, Ehmann WC, Claxton DF, Rybka WB, Drabick JJ, Wang HG, Abraham T, El-Deiry WS, Brodsky RA, J Hohl R, Pu JJ.
Oncotarget 8(18):29887-29905. doi: 10.18632/oncotarget.15136. 2017
6MCAHS, PIGN
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
McInerney-Leo AM, Harris JE, Gattas M, Peach EE, Sinnott S, Dudding-Byth T, Rajagopalan S, Barnett CP, Anderson LK, Wheeler L, Brown MA, Leo PJ, Wicking C, Duncan EL.
Hum Mutat 37(7):695-702. doi: 10.1002/humu.22994. Epub 2016 May 6. 2016
7MCAHS, PIGN
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
Fleming L, Lemmon M, Beck N, Johnson M, Mu W, Murdock D, Bodurtha J, Hoover-Fong J, Cohn R, Bosemani T, Barañano K, Hamosh A.
Am J Med Genet A 170A(1):77-86. doi: 10.1002/ajmg.a.37369. Epub 2015 Sep 23. 2016
8MCAHS, PIGN
PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.
Ohba C, Okamoto N, Murakami Y, Suzuki Y, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Kinoshita T, Matsumoto N, Saitsu H.
Neurogenetics 15(2):85-92. doi: 10.1007/s10048-013-0384-7. Epub 2013 Nov 20. Erratum in: Neurogenetics. 2014 May;15(2):93. 2014
9MCAHS, MCAHS2, PIGA, PIGN, PNH
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 90(2):295-300. Epub 2012 Feb 2. 2012
10MCAHS, PIGN
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.
Maydan G, Noyman I, Har-Zahav A, Neriah ZB, Pasmanik-Chor M, Yeheskel A, Albin-Kaplanski A, Maya I, Magal N, Birk E, Simon AJ, Halevy A, Rechavi G, Shohat M, Straussberg R, Basel-Vanagaite L.
J Med Genet 48(6):383-9. Epub 2011 Apr 14. 2011
11BTD, C2CD4A, C7orf50, C7orf58, CPSF4, CXorf40B, DBNDD1, DBNDD2, GOSR2, HEATR2, ITM2C, LIG3, MARVELD3, PIGN, S100A13, TCEAL1, WARS2
Transcriptome analysis of human gastric cancer.
Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS, Noh SM, Kim S, Yoo HS, Kim YS, Kim NS.
Mamm Genome 16(12):942-54. Epub 2005 Dec 8. 2005
12CRMO, PIGN
Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22.
Golla A, Jansson A, Ramser J, Hellebrand H, Zahn R, Meitinger T, Belohradsky BH, Meindl A.
Eur J Hum Genet 10(3):217-21. 2002
13PIGN
Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol.
Hong Y, Maeda Y, Watanabe R, Ohishi K, Mishkind M, Riezman H, Kinoshita T.
J Biol Chem 274(49):35099-106. 1999
14PIGN
MCD4 encodes a conserved endoplasmic reticulum membrane protein essential for glycosylphosphatidylinositol anchor synthesis in yeast.
Gaynor EC, Mondesert G, Grimme SJ, Reed SI, Orlean P, Emr SD.
Mol Biol Cell 10(3):627-48. 1999