Hessa S Alsaif Selected Research

Hepatolenticular Degeneration (Wilson's Disease)

11/2019

Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.

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Hessa S Alsaif Research Topics

Disease

4	Brain Diseases (Brain Disorder) 01/2022 - 01/2018
4	Intellectual Disability (Idiocy) 11/2021 - 11/2019
2	Microcephaly 11/2021 - 01/2018
1	Hyperplasia 03/2023
1	Neoplasms (Cancer) 01/2021
1	Carcinogenesis 01/2021
1	Neurodevelopmental Disorders 01/2021
1	Muscle Hypotonia (Hypotonia) 12/2020
1	Autonomic Nervous System Diseases (Dysautonomia) 12/2020
1	Epilepsy (Aura) 12/2020
1	Eye Abnormalities (Eye Abnormality) 12/2020
1	Hypoventilation 12/2020
1	Cleft Palate (Palate, Cleft) 01/2020
1	Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome) 01/2020
1	Hepatolenticular Degeneration (Wilson's Disease) 11/2019
1	Peripheral Nervous System Diseases (PNS Diseases) 11/2019
1	Deafness (Deaf Mutism) 11/2019
1	Menkes Kinky Hair Syndrome (Menkes Disease) 11/2019
1	Ichthyosis (Xeroderma) 11/2019
1	Cholestasis 01/2019
1	Hearing Loss (Hearing Impairment) 01/2019
1	Sclerosing Cholangitis 01/2019
1	Hypothyroidism 01/2019
1	Cardiotoxicity 12/2018
1	Dwarfism 04/2017
1	Genomic Instability 04/2017

Drug/Important Bio-Agent (IBA)

5	EnzymesIBA 01/2022 - 01/2018
4	Proteins (Proteins, Gene)FDA Link 01/2021 - 04/2017
1	Glial Cell Line-Derived Neurotrophic Factor (GDNF)IBA 03/2023
1	PyrophosphatasesIBA 01/2022
1	Glutamine (L-Glutamine)FDA Link 01/2022
1	Inosine Triphosphate (ITP)IBA 01/2022
1	Inosine TriphosphataseIBA 01/2022
1	purineIBA 01/2022
1	protein N-terminal acetyltransferaseIBA 11/2021
1	Transcription Factors (Transcription Factor)IBA 01/2021
1	3-methylcytosineIBA 01/2020
1	Arginine (L-Arginine)FDA Link 01/2020
1	Neurotransmitter Agents (Neurotransmitter)IBA 01/2020
1	Nonsense Codon (Nonsense Mutation)IBA 01/2020
1	Cytokine Receptor gp130IBA 01/2020
1	Copper Transport ProteinsIBA 11/2019
1	Transcription Factor AP-1 (Transcription Factor AP 1)IBA 11/2019
1	CopperIBA 11/2019
1	gamma-Glutamyltransferase (gamma-Glutamyl Transpeptidase)IBA 01/2019
1	KinesinsIBA 01/2019
1	RNA (Ribonucleic Acid)IBA 12/2018