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Yair Anikster
Researcher at Sheba Medical Center
Publications - 119
Citations - 5186
Yair Anikster is an academic researcher from Sheba Medical Center. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 36, co-authored 102 publications receiving 4519 citations. Previous affiliations of Yair Anikster include Shaare Zedek Medical Center & Tel Aviv University.
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Journal ArticleDOI
Natural History of Alkaptonuria
Chanika Phornphutkul,Wendy J. Introne,Monique B. Perry,Isa Bernardini,Mark D. Murphey,Diana L. Fitzpatrick,Paul D. Anderson,Marjan Huizing,Yair Anikster,Lynn H. Gerber,William A. Gahl +10 more
TL;DR: Although nitisinone can reduce HGA production in humans with homogentisate 1,2-dioxygenase deficiency, the long-term safety and efficacy of this treatment require further evaluation.
Journal ArticleDOI
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
Detlef Bockenhauer,Sally Feather,Horia Stanescu,Sascha Bandulik,Anselm A. Zdebik,Markus Reichold,Jonathan Tobin,E Lieberer,Christina Sterner,Guida Landouré,Ruchi Arora,Tony Sirimanna,Dorothy A. Thompson,J. Helen Cross,William van’t Hoff,Omar Al Masri,Kjell Tullus,Stella Yeung,Yair Anikster,Enriko Klootwijk,Mike Hubank,Michael J. Dillon,Dirk Heitzmann,Mauricio Arcos-Burgos,Mark A Knepper,Angus Dobbie,William A. Gahl,Richard Warth,Eamonn Sheridan,Robert Kleta +29 more
TL;DR: In this paper, the authors investigated the genetic basis of this autosomal recessive disease, which they call the EAST syndrome (the presence of epilepsy, ataxia, sensorineural deafness, and tubulopathy).
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NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules
Meral Gunay-Aygun,Tzipora C Falik-Zaccai,Thierry Vilboux,Yifat Zivony-Elboum,Fatma Gumruk,Mualla Cetin,Morad Khayat,Cornelius F. Boerkoel,Nehama Kfir,Yan Huang,Dawn M. Maynard,Heidi Dorward,Katherine Berger,Robert Kleta,Yair Anikster,Mutlu Arat,Andrew S. Freiberg,Beate E. Kehrel,Kerstin Jurk,Pedro Cruz,Jim C. Mullikin,James G. White,Marjan Huizing,William A. Gahl +23 more
TL;DR: It is shown that mutations in NBEAL2 (neurobeachin-like 2), which encodes a BEACH/ARM/WD40 domain protein, cause Gray platelet syndrome and that megakaryocytes and platelets from individuals with GPS express a unique combination of NBEal2 transcripts.
Journal ArticleDOI
Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico
Yair Anikster,Marjan Huizing,James G. White,Yuriy O. Shevchenko,Diana L. Fitzpatrick,Jeffrey W. Touchman,John G. Compton,Sherri J. Bale,Richard T. Swank,William A. Gahl,Jorge R. Toro +10 more
TL;DR: A new HPS susceptibility gene is localized to a 1.6-cM interval on chromosome 3q24 and the homozygous, disease-causing mutation is a large deletion and represents the second example of a founder mutation causing HPS on the small island of Puerto Rico.
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Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews
TL;DR: Milder mutations in OPA3 should be sought in patients with optic atrophy with later onset, even in the absence of additional neurological abnormalities, even though the disorder has been reported in patients of Iraqi Jewish origin.