Saima Riazuddin Selected Research

asparaginyl-tRNA synthetase

1/2020	De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
3/2015	Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.

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Saima Riazuddin Research Topics

Disease

19	Deafness (Deaf Mutism) 01/2018 - 05/2003
15	Hearing Loss (Hearing Impairment) 01/2022 - 05/2003
10	Nonsyndromic Deafness 04/2016 - 12/2006
5	Usher Syndromes (Usher Syndrome) 11/2021 - 04/2008
3	Autosomal Recessive 49 Deafness 04/2015 - 12/2006
3	Retinitis Pigmentosa (Pigmentary Retinopathy) 11/2011 - 12/2003
2	Neurodevelopmental Disorders 01/2022 - 01/2021
2	Myopia 01/2022 - 03/2012
2	Cataract (Cataracts) 12/2021 - 04/2021
2	Neoplasms (Cancer) 01/2021 - 01/2019
2	Otitis Media 01/2019 - 11/2018
2	Blindness (Hysterical Blindness) 04/2008 - 06/2006
2	type 1F Usher syndrome 06/2006 - 12/2003
1	Intellectual Disability (Idiocy) 01/2022
1	Atrophy 01/2022
1	Peroxisomal Disorders (Peroxisomal Disorder) 04/2021
1	Albinism 01/2021
1	Oculocutaneous Albinism (Albinism, Yellow Mutant) 01/2021
1	Skin Neoplasms (Skin Cancer) 01/2021
1	Lymphangioleiomyomatosis (Lymphangiomyomatosis) 01/2021
1	Cholesteatoma 01/2021
1	Epilepsy (Aura) 01/2021
1	Seizures (Absence Seizure) 01/2020
1	Microcephaly 01/2020
1	Ataxia (Dyssynergia) 01/2020
1	Peripheral Nervous System Diseases (PNS Diseases) 01/2020
1	Ataxia Telangiectasia (Louis Bar Syndrome) 01/2019
1	Autosomal Recessive 26 Deafness 01/2018
1	Bilateral Vestibulopathy 01/2018
1	Nervous System Diseases (Neurological Disorders) 09/2017
1	Color Vision Defects (Color Blindness) 04/2015
1	Leigh Disease (Leigh's Disease) 03/2015
1	Laurence-Moon Syndrome (Syndrome, Laurence-Moon) 02/2015
1	Sensorineural Hearing Loss 01/2015
1	Brain Neoplasms (Brain Tumor) 01/2015
1	Inflammation (Inflammations) 01/2015
1	Autosomal Recessive 48 Deafness 11/2012
1	Strabismus (Squint) 03/2012
1	congenital stationary Night blindness 03/2012
1	Autosomal Recessive 12 Deafness 11/2011
1	Autosomal Recessive 42 Deafness 02/2011
1	Congenital Microtia 02/2011
1	Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 02/2011
1	Autosomal Recessive 28 Deafness 05/2010
1	Autosomal Recessive 79 Deafness 03/2010
1	Renal Insufficiency (Renal Failure) 08/2009
1	Bartter Syndrome (Syndrome, Bartter) 08/2009

Drug/Important Bio-Agent (IBA)

11	Proteins (Proteins, Gene)FDA Link 04/2021 - 01/2006
5	DNA (Deoxyribonucleic Acid)IBA 01/2019 - 05/2007
5	Carrier Proteins (Binding Protein)IBA 01/2018 - 11/2012
5	CalciumIBA 01/2017 - 11/2012
4	IntegrinsIBA 01/2017 - 11/2012
3	MARVEL Domain Containing 2 ProteinIBA 04/2015 - 12/2006
3	Nonsense Codon (Nonsense Mutation)IBA 02/2011 - 05/2003
2	RNA (Ribonucleic Acid)IBA 01/2021 - 01/2019
2	asparaginyl-tRNA synthetaseIBA 01/2020 - 03/2015
2	Phosphotransferases (Kinase)IBA 01/2019 - 01/2016
2	AntigensIBA 11/2018 - 06/2006
2	Tight Junction ProteinsIBA 04/2015 - 09/2013
2	Retinaldehyde (Retinal)IBA 03/2012 - 01/2008
2	Cadherins (E-Cadherin)IBA 11/2011 - 01/2008
2	Protein Isoforms (Isoforms)IBA 12/2006 - 09/2004
1	Transfer RNA (tRNA)IBA 01/2022
1	Retinal Pigments (Pigments, Visual)IBA 01/2022
1	ConnexinsIBA 12/2021
1	Mechanistic Target of Rapamycin Complex 1IBA 01/2021
1	Melanins (Melanin)IBA 01/2021
1	Adaptor Protein Complex 1IBA 01/2021
1	lipoarabinomannan (LAM)IBA 01/2021
1	Protein Kinases (Protein Kinase)IBA 01/2019
1	Proto-Oncogene Proteins c-metIBA 01/2018
1	diphosphoinositol pentakisphosphate kinaseIBA 01/2018
1	MethyltransferasesIBA 01/2018
1	Monomeric GTP-Binding ProteinsIBA 09/2017
1	Cyclic Nucleotide-Gated Cation ChannelsIBA 04/2015
1	Asn Transfer RNAIBA 03/2015
1	Mutant Proteins (Protein, Mutant)IBA 03/2015
1	Complement System Proteins (Complement)IBA 03/2015
1	neurotoxic esteraseIBA 02/2015
1	3- (methylamino)- 2- ((methylamino)methyl)propane- 1- thiolIBA 01/2015
1	Coloring Agents (Dyes)IBA 06/2014
1	Adenylyl Cyclases (Adenylyl Cyclase)IBA 06/2014
1	FM1 43IBA 06/2014
1	Biotin (Vitamin H)FDA Link 09/2013
1	claudin 14IBA 02/2013
1	GTPase-Activating Proteins (GTPase-Activating Protein)IBA 01/2013
1	Adenosine Triphosphate (ATP)IBA 11/2012
1	Arginine (L-Arginine)FDA Link 10/2011
1	Lysine (L-Lysine)FDA Link 10/2011
1	Initiator Codon (Start Codon)IBA 02/2011
1	Fibroblast Growth Factor 3IBA 02/2011
1	Cysteine (L-Cysteine)FDA Link 01/2011
1	methionine sulfoxide reductaseIBA 01/2011
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 01/2011
1	Chloride Channels (Chloride Channel)IBA 08/2009
1	NucleotidesIBA 04/2008
1	Myosin VIIaIBA 04/2008

Therapy/Procedure

2	Therapeutics 11/2021 - 11/2011
1	Radiotherapy 01/2015
1	Cochlear Implantation 02/2011