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

por Anikster, Yair, Kleta, Robert, Shaag, Avraham, Gahl, William A., Elpeleg, Orly
Publicado 2001

A Human Integrin-α3 Mutation Confers Major Renal Developmental Defects

por Shukrun, Rachel, Vivante, Asaf, Pleniceanu, Oren, Vax, Einav, Anikster, Yair, Dekel, Benjamin, Lotan, Danny
Publicado 2014

The Promoter of a Lysosomal Membrane Transporter Gene, CTNS, Binds Sp-1, Shares Sequences with the Promoter of an Adjacent Gene, CARKL, and Causes Cystinosis If Mutated in a Critic...

por Phornphutkul, Chanika, Anikster, Yair, Huizing, Marjan, Braun, Paula, Brodie, Chaya, Chou, Janice Y., Gahl, William A.
Publicado 2001

Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy

por Yardeni, Tal, Jacobs, Katherine, Niethamer, Terren K., Ciccone, Carla, Anikster, Yair, Kurochkina, Natalya, Gahl, William A., Huizing, Marjan
Publicado 2012

Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature

por Katz, Sharon, Landau, Yuval, Pode-Shakked, Ben, Pessach, Itai M., Rubinshtein, Marina, Anikster, Yair, Salem, Yishay, Paret, Gideon
Publicado en Mol Genet Metab Rep (2016)

Identification, Tissue Distribution and Molecular Modeling of Novel Human Isoforms of the Key Enzyme in Sialic Acid Synthesis, UDP-GlcNAc 2-epimerase/ManNAc Kinase()

por Yardeni, Tal, Choekyi, Tsering, Jacobs, Katherine, Ciccone, Carla, Patzel, Katherine, Anikster, Yair, Gahl, William A., Kurochkina, Natalya, Huizing, Marjan
Publicado 2011

Glutaric Aciduria type I and acute renal failure — Coincidence or causality?

por Pode-Shakked, Ben, Marek-Yagel, Dina, Rubinshtein, Marina, Pessach, Itai M., Paret, Gideon, Volkov, Alexander, Anikster, Yair, Lotan, Danny
Publicado en Mol Genet Metab Rep (2014)

Dominant PAX2 mutations may cause steroid resistant neprotic syndrome and FSGS in children

por Vivante, Asaf, Chacham, Orna, Shril, Shirlee, Schreiber, Ruth, Soliman, Neveen A., Koneth, Irene, Schiffer, Mario, Anikster, Yair, Hildebrandt, Friedhelm
Publicado en Pediatr Nephrol (2019)

Ex Vivo Treatment with a Novel Synthetic Aminoglycoside NB54 in Primary Fibroblasts from Rett Syndrome Patients Suppresses MECP2 Nonsense Mutations

por Vecsler, Manuela, Ben Zeev, Bruria, Nudelman, Igor, Anikster, Yair, Simon, Amos J., Amariglio, Ninette, Rechavi, Gideon, Baasov, Timor, Gak, Eva
Publicado 2011

Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings

por Barak, Sharon, Anikster, Yair, Sarouk, Ifat, Stern, Eve, Eisenstein, Etzyona, Yissar, Tamar, Sherr-Lurie, Nir, Raas-Rothschild, Annick, Guttman, Dafna
Publicado en Diagnostics (Basel) (2020)

Correction: Barak, S. et al. “Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings”. Diagnostics 2020, 10, 108...

por Barak, Sharon, Anikster, Yair, Sarouk, Ifat, Stern, Eve, Eisenstein, Etzyona, Yissar, Tamar, Sherr-Lurie, Nir, Raas-Rothschild, Annick, Guttman, Dafna
Publicado en Diagnostics (Basel) (2020)

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria

por Huizing, Marjan, Dorward, Heidi, Ly, Lien, Klootwijk, Enriko, Kleta, Robert, Skovby, Flemming, Pei, Wuhong, Feldman, Benjamin, Gahl, William A., Anikster, Yair
Publicado 2010

Evidence that Griscelli Syndrome with Neurological Involvement Is Caused by Mutations in RAB27A, Not MYO5A

por Anikster, Yair, Huizing, Marjan, Anderson, Paul D., Fitzpatrick, Diana L., Klar, Aharon, Gross-Kieselstein, Eva, Berkun, Yackov, Shazberg, Gila, Gahl, William A., Hurvitz, Haggit
Publicado 2002

Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease

por Landau, Yuval E., Heimer, Gali, Barel, Ortal, Shalva, Nechama, Marek-Yagel, Dina, Veber, Alvit, Javasky, Elisheva, Shilon, Aya, Nissenkorn, Andreea, Ben-Zeev, Bruria, Anikster, Yair
Publicado en Mol Genet Metab Rep (2020)

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects

por Ferriero, Rosa, Boutron, Audrey, Brivet, Michele, Kerr, Douglas, Morava, Eva, Rodenburg, Richard J, Bonafé, Luisa, Baumgartner, Matthias R, Anikster, Yair, Braverman, Nancy E, Brunetti-Pierri, Nicola
Publicado 2014

A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3

por Pei, Wuhong, Kratz, Lisa E., Bernardini, Isa, Sood, Raman, Yokogawa, Tohei, Dorward, Heidi, Ciccone, Carla, Kelley, Richard I., Anikster, Yair, Burgess, Harold A., Huizing, Marjan, Feldman, Benjamin
Publicado 2010

Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency

por Huizing, Marjan, Anikster, Yair, Fitzpatrick, Diana L., Jeong, Anna B., D’Souza, Maria, Rausche, Melanie, Toro, Jorge R., Kaiser-Kupfer, Muriel I., White, James G., Gahl, William A.
Publicado 2001

Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering

por Markello, Thomas C., Han, Ted, Carlson-Donohoe, Hannah, Ahaghotu, Chidi, Harper, Ursula, Jones, MaryPat, Chandrasekharappa, Settara, Anikster, Yair, Adams, David R., Gahl, William A., Boerkoel, Cornelius F.
Publicado 2011

The Genomic Region Encompassing the Nephropathic Cystinosis Gene (CTNS): Complete Sequencing of a 200-kb Segment and Discovery of a Novel Gene within the Common Cystinosis-Causing...

por Touchman, Jeffrey W., Anikster, Yair, Dietrich, Nicole L., Maduro, Valerie V. Braden, McDowell, Geraldine, Shotelersuk, Vorasuk, Bouffard, Gerard G., Beckstrom-Sternberg, Stephen M., Gahl, William A., Green, Eric D.
Publicado 2000

Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature

por Pode-Shakked, Ben, Vivante, Asaf, Barel, Ortal, Padeh, Shai, Marek-Yagel, Dina, Veber, Alvit, Abudi, Shachar, Eliyahu, Aviva, Tirosh, Irit, Shpilman, Shiri, Shril, Shirlee, Hildebrandt, Friedhelm, Shohat, Mordechai, Anikster, Yair
Publicado en BMC Med Genet (2019)