282 related articles for article (PubMed ID: 26996948)
1. Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
Makrythanasis P; Kato M; Zaki MS; Saitsu H; Nakamura K; Santoni FA; Miyatake S; Nakashima M; Issa MY; Guipponi M; Letourneau A; Logan CV; Roberts N; Parry DA; Johnson CA; Matsumoto N; Hamamy H; Sheridan E; Kinoshita T; Antonarakis SE; Murakami Y
Am J Hum Genet; 2016 Apr; 98(4):615-26. PubMed ID: 26996948
[TBL] [Abstract][Full Text] [Related]
2. Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.
Zhao JJ; Halvardson J; Knaus A; Georgii-Hemming P; Baeck P; Krawitz PM; Thuresson AC; Feuk L
Hum Mutat; 2017 Oct; 38(10):1394-1401. PubMed ID: 28581210
[TBL] [Abstract][Full Text] [Related]
3. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
Kvarnung M; Nilsson D; Lindstrand A; Korenke GC; Chiang SC; Blennow E; Bergmann M; Stödberg T; Mäkitie O; Anderlid BM; Bryceson YT; Nordenskjöld M; Nordgren A
J Med Genet; 2013 Aug; 50(8):521-8. PubMed ID: 23636107
[TBL] [Abstract][Full Text] [Related]
4. Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
Nguyen TTM; Murakami Y; Wigby KM; Baratang NV; Rousseau J; St-Denis A; Rosenfeld JA; Laniewski SC; Jones J; Iglesias AD; Jones MC; Masser-Frye D; Scheuerle AE; Perry DL; Taft RJ; Le Deist F; Thompson M; Kinoshita T; Campeau PM
Am J Hum Genet; 2018 Oct; 103(4):602-611. PubMed ID: 30269814
[TBL] [Abstract][Full Text] [Related]
5. PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Tremblay-Laganière C; Maroofian R; Nguyen TTM; Karimiani EG; Kirmani S; Akbar F; Ibrahim S; Afroze B; Doosti M; Ashrafzadeh F; Babaei M; Efthymiou S; Christoforou M; Sultan T; Ladda RL; McLaughlin HM; Truty R; Mahida S; Cohen JS; Baranano K; Ismail FY; Patel MS; Lehman A; Edmondson AC; Nagy A; Walker MA; Mercimek-Andrews S; Maki Y; Sachdev R; Macintosh R; Palmer EE; Mancini GMS; Barakat TS; Steinfeld R; Rüsch CT; Stettner GM; Wagner M; Wortmann SB; Kini U; Brady AF; Stals KL; Ismayilova N; Ellard S; Bernardo D; Nugent K; McLean SD; Antonarakis SE; Houlden H; Kinoshita T; Campeau PM; Murakami Y
Genet Med; 2021 Oct; 23(10):1873-1881. PubMed ID: 34113002
[TBL] [Abstract][Full Text] [Related]
6. [Inherited GPI deficiencies:a new disease with intellectual disability and epilepsy].
Murakami Y; Kinoshita T
No To Hattatsu; 2015 Jan; 47(1):5-13. PubMed ID: 25803904
[TBL] [Abstract][Full Text] [Related]
7. Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
Johnstone DL; Nguyen TT; Murakami Y; Kernohan KD; Tétreault M; Goldsmith C; Doja A; Wagner JD; Huang L; Hartley T; St-Denis A; le Deist F; Majewski J; Bulman DE; ; Kinoshita T; Dyment DA; Boycott KM; Campeau PM
Hum Mol Genet; 2017 May; 26(9):1706-1715. PubMed ID: 28334793
[TBL] [Abstract][Full Text] [Related]
8. Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Nguyen TTM; Murakami Y; Mobilio S; Niceta M; Zampino G; Philippe C; Moutton S; Zaki MS; James KN; Musaev D; Mu W; Baranano K; Nance JR; Rosenfeld JA; Braverman N; Ciolfi A; Millan F; Person RE; Bruel AL; Thauvin-Robinet C; Ververi A; DeVile C; Male A; Efthymiou S; Maroofian R; Houlden H; Maqbool S; Rahman F; Baratang NV; Rousseau J; St-Denis A; Elrick MJ; Anselm I; Rodan LH; Tartaglia M; Gleeson J; Kinoshita T; Campeau PM
Am J Hum Genet; 2020 Apr; 106(4):484-495. PubMed ID: 32220290
[TBL] [Abstract][Full Text] [Related]
9. A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.
Nakagawa T; Taniguchi-Ikeda M; Murakami Y; Nakamura S; Motooka D; Emoto T; Satake W; Nishiyama M; Toyoshima D; Morisada N; Takada S; Tairaku S; Okamoto N; Morioka I; Kurahashi H; Toda T; Kinoshita T; Iijima K
Am J Med Genet A; 2016 Jan; 170A(1):183-8. PubMed ID: 26419326
[TBL] [Abstract][Full Text] [Related]
10. Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Murakami Y; Nguyen TTM; Baratang N; Raju PK; Knaus A; Ellard S; Jones G; Lace B; Rousseau J; Ajeawung NF; Kamei A; Minase G; Akasaka M; Araya N; Koshimizu E; van den Ende J; Erger F; Altmüller J; Krumina Z; Strautmanis J; Inashkina I; Stavusis J; El-Gharbawy A; Sebastian J; Puri RD; Kulshrestha S; Verma IC; Maier EM; Haack TB; Israni A; Baptista J; Gunning A; Rosenfeld JA; Liu P; Joosten M; Rocha ME; Hashem MO; Aldhalaan HM; Alkuraya FS; Miyatake S; Matsumoto N; Krawitz PM; Rossignol E; Kinoshita T; Campeau PM
Am J Hum Genet; 2019 Aug; 105(2):384-394. PubMed ID: 31256876
[TBL] [Abstract][Full Text] [Related]
11. 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; 2019 Aug; 105(2):395-402. PubMed ID: 31353022
[TBL] [Abstract][Full Text] [Related]
12. Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders.
Bellai-Dussault K; Nguyen TTM; Baratang NV; Jimenez-Cruz DA; Campeau PM
Clin Genet; 2019 Jan; 95(1):112-121. PubMed ID: 30054924
[TBL] [Abstract][Full Text] [Related]
13. Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.
Chiyonobu T; Inoue N; Morimoto M; Kinoshita T; Murakami Y
J Med Genet; 2014 Mar; 51(3):203-7. PubMed ID: 24367057
[TBL] [Abstract][Full Text] [Related]
14. Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3.
Nakashima M; Kashii H; Murakami Y; Kato M; Tsurusaki Y; Miyake N; Kubota M; Kinoshita T; Saitsu H; Matsumoto N
Neurogenetics; 2014 Aug; 15(3):193-200. PubMed ID: 24906948
[TBL] [Abstract][Full Text] [Related]
15. PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature.
Peron A; Iascone M; Salvatici E; Cavirani B; Marchetti D; Corno S; Vignoli A
Am J Med Genet A; 2020 Jun; 182(6):1477-1482. PubMed ID: 32198969
[TBL] [Abstract][Full Text] [Related]
16. A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.
Segel R; Aran A; Gulsuner S; Nakamura H; Rosen T; Walsh T; Denda H; Zeligson S; Eto K; Beeri R; Okai H; King MC; Levy-Lahad E; Funato K; Renbaum P
Neurogenetics; 2020 Oct; 21(4):259-267. PubMed ID: 32462292
[TBL] [Abstract][Full Text] [Related]
17. Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants.
Baratang NV; Jimenez Cruz DA; Ajeawung NF; Nguyen TTM; Pacheco-Cuéllar G; Campeau PM
Mol Genet Genomic Med; 2019 Jul; 7(7):e00743. PubMed ID: 31127708
[TBL] [Abstract][Full Text] [Related]
18. Ethanolamine-phosphate on the second mannose is a preferential bridge for some GPI-anchored proteins.
Ishida M; Maki Y; Ninomiya A; Takada Y; Campeau P; Kinoshita T; Murakami Y
EMBO Rep; 2022 Jul; 23(7):e54352. PubMed ID: 35603428
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 29974678
[TBL] [Abstract][Full Text] [Related]
20. Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
Murakami Y; Tawamie H; Maeda Y; Büttner C; Buchert R; Radwan F; Schaffer S; Sticht H; Aigner M; Reis A; Kinoshita T; Jamra RA
PLoS Genet; 2014 May; 10(5):e1004320. PubMed ID: 24784135
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
