Aljazi Al-Maraghi
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Explore the profile of Aljazi Al-Maraghi including associated specialties, affiliations and a list of published articles.
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10
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61
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Recent Articles
1.
Karayel O, Soung A, Gurung H, Schubert A, Klaeger S, Kschonsak M, et al.
Proc Natl Acad Sci U S A
. 2025 Feb;
122(7):e2422631122.
PMID: 39937864
COP1 and DET1 are components of an E3 ubiquitin ligase that is conserved from plants to humans. Mammalian COP1 binds to DET1 and is a substrate adaptor for the CUL4A-DDB1-RBX1...
2.
Devadoss Gandhi G, Aliyev E, Syed N, Vempalli F, Saad C, Mbarek H, et al.
Genet Med
. 2024 Sep;
26(12):101268.
PMID: 39286960
Purpose: To date, approximately 1400 inherited metabolic disorders (IMDs) have been described, some of which are treatable. It is estimated that 2% to 3% of live births worldwide are affected...
3.
Al-Maraghi A, Aamer W, Ziab M, Aliyev E, Elbashir N, Hussein S, et al.
BMC Nephrol
. 2024 Apr;
25(1):139.
PMID: 38649831
Background: Renal tubular dysgenesis (RTD) is a severe disorder with poor prognosis significantly impacting the proximal tubules of the kidney while maintaining an anatomically normal gross structure. The genetic origin...
4.
Aamer W, Al-Maraghi A, Syed N, Devadoss Gandhi G, Aliyev E, Al-Kurbi A, et al.
Genome Med
. 2024 Apr;
16(1):46.
PMID: 38584274
Background: Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familial studies. Methods: Here,...
5.
Shaath R, Al-Maraghi A, Ali H, AlRayahi J, Kennedy A, DeBalsi K, et al.
Metabolites
. 2024 Mar;
14(3).
PMID: 38535312
Multi-omics approaches, which integrate genomics, transcriptomics, proteomics, and metabolomics, have emerged as powerful tools in the diagnosis of rare diseases. We used untargeted metabolomics and whole-genome sequencing (WGS) to gain...
6.
Al-Kurbi A, Aliyev E, AlSaafin S, Aamer W, Palaniswamy S, Al-Maraghi A, et al.
Genes (Basel)
. 2023 Apr;
14(4).
PMID: 37107607
Clefts of the lip and/or palate (CL/P) are considered the most common form of congenital anomalies occurring either in isolation or in association with other clinical features. Van der woude...
7.
Devadoss Gandhi G, Aamer W, Krishnamoorthy N, Syed N, Aliyev E, Al-Maraghi A, et al.
J Transl Med
. 2022 Nov;
20(1):502.
PMID: 36329474
Background: The genetic architecture underlying Familial Hypercholesterolemia (FH) in Middle Eastern Arabs is yet to be fully described, and approaches to assess this from population-wide biobanks are important for public...
8.
Hassan K, Robay A, Al-Maraghi A, Nimeri N, Azzam A, Al Shakaki A, et al.
Cold Spring Harb Mol Case Stud
. 2021 Nov;
8(2).
PMID: 34815247
Microvillus inclusion disease (MVID) is a rare autosomal recessive condition characterized by a lack of microvilli on the surface of enterocytes, resulting in severe, life-threatening diarrhea that could lead to...
9.
Marafi D, Fatih J, Kaiyrzhanov R, Ferla M, Gijavanekar C, Al-Maraghi A, et al.
Brain
. 2021 Oct;
145(3):909-924.
PMID: 34605855
The solute carrier (SLC) superfamily encompasses >400 transmembrane transporters involved in the exchange of amino acids, nutrients, ions, metals, neurotransmitters and metabolites across biological membranes. SLCs are highly expressed in...
10.
Akil A, Yassin E, Al-Maraghi A, Aliyev E, Al-Malki K, Fakhro K
J Transl Med
. 2021 Apr;
19(1):137.
PMID: 33794915
Type 1 diabetes affects millions of people globally and requires careful management to avoid serious long-term complications, including heart and kidney disease, stroke, and loss of sight. The type 1...