Eka Kvaratskhelia
Overview
Explore the profile of Eka Kvaratskhelia including associated specialties, affiliations and a list of published articles.
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11
Citations
20
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Recent Articles
1.
Kekenadze M, Rocca C, Turchetti V, Nagy S, Kvirkvelia N, Vashadze S, et al.
F1000Res
. 2024 Mar;
12:1113.
PMID: 38464738
Background: Amyotrophic lateral sclerosis (ALS) is a fatal progressive neurodegenerative disorder that affects the upper and lower motor neurons. Several genetic risk factors have been identified in the past decade...
2.
Ahmadi S, Surmava S, Kvaratskhelia D, Gogolashvili A, Kvaratskhelia E, Abzianidze E, et al.
Clin Med Insights Oncol
. 2024 Mar;
18:11795549241233693.
PMID: 38433849
Background: The folate metabolism pathway plays an integral part in DNA synthesis, methylation, and repair. Methylenetetrahydrofolate reductase (MTHFR) and methylenetetrahydrofolate dehydrogenase (MTHFD1) are both enzymes that are involved in this...
3.
Tkemaladze T, Bregvadze K, Kvaratskhelia E, Abzianidze E, Davitaia T
Front Med (Lausanne)
. 2024 Jan;
10:1281049.
PMID: 38188341
Alport syndrome is a rare genetic condition characterized by kidney disease, hearing impairment, and ocular abnormalities. It exhibits various inheritance patterns involving pathogenic variants in , , and genes. The...
4.
Ahmadi S, Surmava S, Kvaratskhelia E, Abzianidze E, Kankava K
Glob Med Genet
. 2023 Jul;
10(3):159-163.
PMID: 37501757
Interleukin-10 (IL-10) is a cytokine with a vast variety of functions, but its role in cancer development and progression is not yet clear. It is involved in two of the...
5.
Tkemaladze T, Kvaratskhelia E, Ghughunishvili M, Rtskhiladze I, Zaalishvili Z, Nakaidze N, et al.
SAGE Open Med Case Rep
. 2023 Jun;
11:2050313X231177163.
PMID: 37274939
Cystic fibrosis is the most common, life-threatening, autosomal recessive disease in the Caucasian population. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, which encodes a...
6.
Kraveishvili N, Kvaratskhelia E, Surmava S, Kvintradze M, Zarandia M, Gorgiladze T, et al.
J Int Med Res
. 2023 Feb;
51(2):3000605231152109.
PMID: 36734246
Objective: To analyse the methylation status of the Long Interspersed Nuclear Element-1 (LINE-1) and Short Interspersed Nuclear Element Alu (Alu) of peripheral blood mononuclear cells (PBMCs) from patients with migraine...
7.
Tkemaladze T, Bregvadze K, Kvaratskhelia E, Kapoor M, Orjonikidze N, Abzianidze E
SAGE Open Med Case Rep
. 2022 Dec;
10:2050313X221144219.
PMID: 36530372
Nager syndrome (MIM #154400) is a rare acrofacial dysostosis syndrome predominantly characterized by malformations in craniofacial and preaxial limb bones. Most cases are sporadic and present with significant clinical heterogeneity....
8.
Tkemaladze T, Kvaratskhelia E, Ghughunishvili M, Lentze M, Abzianidze E, Skrahina V, et al.
Respir Med Case Rep
. 2022 Oct;
40:101750.
PMID: 36238659
Here, we describe a cystic fibrosis (CF) family with affected siblings, two of whom have a combination of I1234V and 1677delTA variants with classic CF features, the third child with...
9.
Kvaratskhelia E, Chokoshvili D, Kvintradze M, Surmava S, Dzagoevi K, Borry P, et al.
J Community Genet
. 2021 Mar;
12(3):407-414.
PMID: 33783754
The aim of this study is to assess attitudes towards genetic testing in Georgian public. We used a Likert-scale written questionnaire. The survey was completed by 480 respondents. A majority...
10.
Kvaratskhelia T, Abzianidze E, Asatiani K, Kvintradze M, Surmava S, Kvaratskhelia E
Glob Med Genet
. 2020 Sep;
7(2):47-50.
PMID: 32939515
The aim of this study was to investigate the frequency of methylenetetrahydrofolate reductase ( gene polymorphisms in Georgian females with hypothyroidism. Thirty-four patients and 29 healthy individuals were recruited in...