Ehsan Ghayoor Karimiani
Overview
Explore the profile of Ehsan Ghayoor Karimiani including associated specialties, affiliations and a list of published articles.
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90
Citations
809
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Recent Articles
1.
Kaiyrzhanov R, Thompson K, Efthymiou S, Mukushev A, Zharylkassyn A, Prasad C, et al.
Brain Commun
. 2025 Feb;
7(1):fcae453.
PMID: 39963288
Biallelic variants in NADH (nicotinamide adenine dinucleotide (NAD) + hydrogen (H))-ubiquinone oxidoreductase 1 alpha subcomplex 13 have been linked to mitochondrial complex I deficiency, nuclear type 28, based on three...
2.
Zhang K, Manning A, Lentini J, Howard J, Dalwigk F, Maroofian R, et al.
Cell Rep
. 2025 Jan;
44(1):115092.
PMID: 39786990
The tRNA methyltransferase 1 (TRMT1) enzyme catalyzes the N2,N2-dimethylguanosine (m2,2G) modification in tRNAs. Intriguingly, vertebrates encode an additional tRNA methyltransferase 1-like (TRMT1L) paralog. Here, we use a comprehensive tRNA sequencing...
3.
Shirvan B, Ahangari N, Rezaie R, Layegh P, Karimiani E, Hashemi N, et al.
BMC Pediatr
. 2024 Nov;
24(1):778.
PMID: 39604887
Background: Zellweger spectrum disorders (ZSDs) are a group of peroxisome biogenesis disorders (PBDs) with different variants in the PEX genes. The main biochemical marker for screening peroxisomal disorders is very...
4.
Barish S, Lin S, Maroofian R, Gezdirici A, Alhebby H, Trimouille A, et al.
Am J Hum Genet
. 2024 Oct;
111(11):2566-2581.
PMID: 39471804
WD repeat domain 83 opposite strand (WDR83OS) encodes the 106-aa (amino acid) protein Asterix, which heterodimerizes with CCDC47 to form the PAT (protein associated with ER translocon) complex. This complex...
5.
Calame D, Wong J, Panda P, Nguyen D, Leong N, Sangermano R, et al.
Genet Med
. 2024 Sep;
27(1):101273.
PMID: 39306721
Purpose: FLVCR1 encodes a solute carrier protein implicated in heme, choline, and ethanolamine transport. Although Flvcr1 mice exhibit skeletal malformations and defective erythropoiesis reminiscent of Diamond-Blackfan anemia (DBA), biallelic FLVCR1...
6.
Iruzubieta P, Alves C, Al Shamsi A, ElGhazali G, Zaki M, Pinelli L, et al.
EBioMedicine
. 2024 Aug;
107:105297.
PMID: 39191170
Background: NOTCH3 encodes a transmembrane receptor critical for vascular smooth muscle cell function. NOTCH3 variants are the leading cause of hereditary cerebral small vessel disease (SVD). While monoallelic cysteine-involving missense...
7.
Nakamura Y, Shimada I, Maroofian R, Falabella M, Zaki M, Fujimoto M, et al.
Brain
. 2024 Jul;
147(11):3949-3967.
PMID: 39082157
Patatin-like phospholipase domain-containing lipase 8 (PNPLA8), one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. Biallelic variants in PNPLA8 have...
8.
Najarzadeh Torbati P, Doosti M, Sarraf P, Boostani R, Ahangari N, Toosi M, et al.
Iran J Public Health
. 2024 Jun;
53(5):1184-1191.
PMID: 38912134
Background: Plectinopathy-associated disorders are caused by mutations in the gene encoding Plectin protein. mutations cause a spectrum of diseases defined by varying degrees of signs, mostly with epidermolysis bullosa simplex...
9.
Paul M, Michener S, Pan H, Chan H, Pfliger J, Rosenfeld J, et al.
Am J Hum Genet
. 2024 May;
111(6):1239.
PMID: 38723631
No abstract available.
10.
Alipouran F, Karimiani E, Khayatzadeh J
Rep Biochem Mol Biol
. 2024 Apr;
12(3):386-392.
PMID: 38618260
Background: Congenital liver disease refers to a group of heterogeneous diseases from a clinical genetic point of view. The most crucial features are hepatosplenomegaly and elevated liver enzymes. This study...