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Y Anikster Selected Research

Platelet Storage Pool Deficiency

11/2000Hermansky-Pudlak syndrome and related disorders of organelle formation.
3/2000Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.

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Y Anikster Research Topics

Disease

5Cystinosis
11/2001 - 01/2000
2Oculocutaneous Albinism (Albinism, Yellow Mutant)
11/2000 - 03/2000
2Platelet Storage Pool Deficiency
11/2000 - 03/2000
1Ataxia (Dyssynergia)
01/2018
1Cerebellar Ataxia (Dysmetria)
01/2018
1Neurodegenerative Diseases (Neurodegenerative Disease)
05/2017
13-Methylglutaconic Aciduria
05/2017
1Brain Diseases (Brain Disorder)
05/2017
1Epilepsy (Aura)
05/2017
1Intellectual Disability (Idiocy)
05/2017
1Mitochondrial Diseases (Mitochondrial Disease)
05/2017
1Neurodevelopmental Disorders
05/2017
1Costeff optic atrophy syndrome
04/2015
1Optic Atrophy
04/2015
1Inborn Genetic Diseases (Disease, Hereditary)
10/2009
1Canavan Disease (Leukodystrophy, Spongiform)
10/2009
1Tetraploidy
08/2008
1Primary Myelofibrosis (Myelosclerosis)
11/2001
1Crohn Disease (Crohn's Disease)
08/2001
1Pulmonary Fibrosis (Fibrosing Alveolitis)
08/2001
1Infections
07/2001
1Distal Myopathies (Distal Muscular Dystrophy)
02/2001
1Lung Diseases (Lung Disease)
02/2001
1Hermanski-Pudlak Syndrome (Hermansky-Pudlak Syndrome)
11/2000
1ocular nonnephropathic Cystinosis
01/2000
1Photophobia (Light Sensitivity)
01/2000

Drug/Important Bio-Agent (IBA)

4CeroidIBA
08/2001 - 03/2000
3DNA (Deoxyribonucleic Acid)IBA
08/2008 - 02/2000
3Cystine (L-Cystine)IBA
02/2001 - 01/2000
1Riboflavin (Vitamin B2)FDA LinkGeneric
01/2018
1Proteins (Proteins, Gene)FDA Link
05/2017
1TubulinIBA
05/2017
1Biomarkers (Surrogate Marker)IBA
05/2017
1Lactic Acid (Lactate)FDA LinkGeneric
05/2017
1oligomycin sensitivity-conferring protein (complex V)IBA
05/2017
13-methylglutaconic acidIBA
04/2015
13-methylglutaric acidIBA
04/2015
1Acetates (Acetic Acid Esters)FDA Link
10/2009
1LipidsIBA
10/2009
1P-SelectinIBA
11/2001
1Intercellular Signaling Peptides and Proteins (Growth Factors)IBA
11/2001
1Membrane Transport Proteins (Biological Pump)IBA
10/2001
1TRPV1 receptorIBA
02/2000
1Messenger RNA (mRNA)IBA
01/2000

Therapy/Procedure

1Kidney Transplantation
02/2001