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Asmaa Abu maziad
Assistant Professor, Pediatrics - (Clinical Scholar Track)
Pediatrics
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Research Area
genetics,
protein localization,
developmental delay,
epilepsy,
pediatric syndrome,
kidney disease,
mutations,
glomerulopathy,
coq8b,
genetic variants
Grants
(1)
Renal Denervation to Treat Polycystic Kidney Disease: Mechanisms and Mediators
Active
·
2023
·
$90K / $600.2K
·
External
Co-Investigator (COI)
renal denervation,
polycystic kidney disease,
mechanisms,
mediators,
treatment
Publications
(5)
Recent
Identification of Potential Modulators of a Pathogenic G Protein-Gated Inwardly Rectifying K Channel 4 Mutant: Investigation in the Context of Drug Discovery for Hypertension
2023
drug discovery,
hypertension,
g protein,
channel mutant,
modulators
Congenital nephrotic syndrome
2021
pediatrics,
nephrology,
genetics,
medical genetics,
kidney diseases
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
2021
genetic variants,
disease mechanisms,
protein localization,
developmental delay,
epilepsy
The role of novel COQ8B mutations in glomerulopathy and related kidney defects
2020
genetics,
kidney disease,
mutations,
glomerulopathy,
coq8b
De novo truncating TRIM8 variants impair its protein localization to nuclear bodies and cause a pediatric syndrome of developmental delay, epilepsy and focal segmental glomerulosclerosis
2020
genetics,
pediatric syndrome,
protein localization,
developmental delay,
epilepsy
Collaborations
(8)
Russell Witte
Mutual work: 2 Proposals﹒1 Grant
Collaboration Details
Jason Wertheim
Mutual work: 2 Proposals
Collaboration Details
Pawel Kiela
Mutual work: 1 Publication
Collaboration Details
Fayez Ghishan
Mutual work: 1 Publication
Collaboration Details
Rick Schnellmann
Mutual work: 1 Proposal
Collaboration Details
Page 1 of 2
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7+ Collaborators
$90K / $600.2K Funding
4+ Publications