Hossein Najmabadi Selected Research

Intellectual Disability (Idiocy)

1/2022	Understanding the Molecular Basis of Fragile X Syndrome Using Differentiated Mesenchymal Stem Cells.
1/2022	Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery.
1/2021	Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.
1/2020	FASN-Dependent Lipid Metabolism Links Neurogenic Stem/Progenitor Cell Activity to Learning and Memory Deficits.
12/2018	CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability.
10/2018	tRNA Methyltransferase Defects and Intellectual Disability.
6/2017	ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.
1/2017	Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.
1/2016	BOD1 Is Required for Cognitive Function in Humans and Drosophila.
10/2015	Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.

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Hossein Najmabadi Research Topics

Disease

21	Intellectual Disability (Idiocy) 01/2022 - 10/2007
20	Thalassemia 05/2021 - 01/2004
11	Hearing Loss (Hearing Impairment) 07/2020 - 02/2007
8	Deafness (Deaf Mutism) 01/2018 - 09/2009
7	beta-Thalassemia (Cooley's Anemia) 10/2015 - 10/2002
6	alpha-Thalassemia 01/2016 - 10/2003
6	Anemia 01/2015 - 01/2004
5	Nonsyndromic Deafness 02/2019 - 09/2008
5	Neoplasms (Cancer) 10/2018 - 01/2005
4	Male Infertility (Male Sterility) 07/2020 - 04/2009
4	Breast Neoplasms (Breast Cancer) 01/2013 - 01/2005
3	Nervous System Diseases (Neurological Disorders) 01/2022 - 09/2017
3	Hemolytic Anemia 01/2016 - 01/2015
3	Hydrops Fetalis (Fetal Edema) 01/2015 - 08/2010
3	Schizophrenia (Dementia Praecox) 09/2008 - 04/2006
2	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 04/2021 - 10/2007
2	Microcephaly 04/2020 - 11/2019
2	Autosomal Dominant 5 Deafness 01/2018 - 01/2007
2	Muscular Dystrophies (Muscular Dystrophy) 04/2016 - 01/2015
2	hypochromic microcytic Anemia 01/2015 - 01/2013
2	Chromosome Aberrations (Chromosome Abnormalities) 01/2014 - 10/2013
2	Hemoglobinopathies 01/2014 - 02/2012
2	24 Autosomal Recessive Deafness 03/2010 - 03/2009
2	Mood Disorders (Mood Disorder) 11/2008 - 06/2006
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2004 - 02/2003
1	Central Nervous System Diseases (CNS Diseases) 01/2022
1	Fragile X Syndrome (Martin Bell Syndrome) 01/2022
1	Bone Fractures (Bone Fracture) 04/2021
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 03/2021
1	NGLY1 deficiency 03/2021
1	Cerebrotendinous Xanthomatosis 01/2021
1	Lissencephaly 01/2021
1	Spontaneous Abortion (Miscarriage) 01/2021
1	Ciliopathies 10/2020
1	Autosomal Recessive 32 Deafness 07/2020
1	Atrophy 04/2020
1	Heart Septal Defects 04/2020
1	Polydactyly (Polydactylism) 01/2020
1	Greig cephalopolysyndactyly syndrome 01/2020
1	Pallister-Hall Syndrome 01/2020
1	Meniere Disease (Menieres Disease) 01/2020
1	Nonsyndromic sensorineural hearing loss 11/2019
1	Autosomal Dominant 2A Deafness 01/2019
1	Autosomal Recessive 67 Deafness 01/2019
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 06/2018
1	Blindness (Hysterical Blindness) 12/2017
1	Autosomal Recessive 48 Deafness 12/2017
1	Usher Syndromes (Usher Syndrome) 12/2017
1	Fetal Diseases (Embryopathy) 09/2017

Drug/Important Bio-Agent (IBA)

21	Proteins (Proteins, Gene)FDA Link 01/2022 - 04/2009
18	GlobinsIBA 05/2021 - 01/2007
11	DNA (Deoxyribonucleic Acid)IBA 01/2021 - 10/2002
8	Nonsense Codon (Nonsense Mutation)IBA 12/2017 - 02/2007
5	Hemoglobins (Hemoglobin)IBA 05/2013 - 10/2003
4	NucleotidesIBA 05/2021 - 01/2007
4	Connexin 26IBA 11/2019 - 05/2011
4	IronIBA 10/2012 - 10/2003
3	MicroRNAs (MicroRNA)IBA 01/2022 - 03/2010
3	Carrier Proteins (Binding Protein)IBA 12/2017 - 12/2009
3	Messenger RNA (mRNA)IBA 01/2016 - 01/2007
3	beta-Globins (beta Globin)IBA 08/2013 - 03/2011
2	Biomarkers (Surrogate Marker)IBA 01/2022 - 01/2014
2	Transcription Factors (Transcription Factor)IBA 01/2022 - 10/2015
2	A-Form DNA (A-DNA)IBA 04/2021 - 02/2003
2	LipidsIBA 01/2021 - 01/2014
2	Retinaldehyde (Retinal)IBA 04/2020 - 12/2017
2	CalciumIBA 12/2017 - 04/2016
2	Neurotransmitter Agents (Neurotransmitter)IBA 10/2015 - 08/2013
2	hemoglobin Bart'sIBA 01/2015 - 01/2014
2	Fetal Hemoglobin (Hemoglobin F)IBA 01/2012 - 01/2007
2	Pharmaceutical PreparationsIBA 01/2012 - 04/2007
2	alpha-GlobinsIBA 03/2011 - 10/2003
2	cyclonite (RDX)IBA 03/2010 - 03/2009
2	CalreticulinIBA 11/2008 - 04/2006
2	LithiumIBA 11/2008 - 06/2006
2	Dopamine Plasma Membrane Transport Proteins (Dopamine Transporter)IBA 05/2007 - 07/2006
1	5' Untranslated Regions (5' UTR)IBA 01/2022
1	Ribosomal Proteins (Ribosomal Protein)IBA 01/2022
1	Fragile X Mental Retardation ProteinIBA 01/2022
1	Codon (Codons)IBA 05/2021
1	Single-Stranded DNA (DNA, Single Stranded)IBA 04/2021
1	Caspase 2IBA 01/2021
1	Protein Tyrosine PhosphatasesIBA 07/2020
1	Terminator Codon (Termination Codon)IBA 04/2020
1	limbic system-associated membrane proteinIBA 01/2020
1	polyaminopropylbiguanide (PAPB)IBA 01/2020
1	Fatty Acid Synthases (Fatty Acid Synthase)IBA 01/2020
1	TubulinIBA 11/2019
1	Myosins (Myosin)IBA 02/2019
1	Potassium Channels (Potassium Channel)IBA 01/2019
1	JNK Mitogen-Activated Protein KinasesIBA 12/2018
1	tRNA MethyltransferasesIBA 10/2018
1	human CDC14A proteinIBA 01/2018
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/2018
1	IntegrinsIBA 12/2017
1	Monomeric GTP-Binding ProteinsIBA 09/2017
1	Cell-Free Nucleic AcidsIBA 09/2017

Therapy/Procedure

7	Blood Transfusion (Blood Transfusions) 01/2015 - 04/2007
2	Otoscopes 01/2018 - 01/2018
2	Bone Marrow Transplantation (Transplantation, Bone Marrow) 01/2008 - 04/2007