Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Kakha Bregvadze"'
Autor:
Kakha Bregvadze, Luka Abashishvili, Nana Nino Tatishvili, Teona Shatirishvili, Ana Bedoshvili, Gocha Chikvinidze, Arndt Rolfs, Volha Skrahina, Tinatin Tkemaladze
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by mutations in SMN1, with disease severity influenced by the number of SMN2 copies. Although SMA is one of the most common autosomal recessive disorders, molecular diagnosi
Externí odkaz:
https://doaj.org/article/24e1825908d8495fad3fd8972f4f4078
Autor:
Kakha Bregvadze, Lally Mekokishvili
Publikováno v:
SAGE Open Medical Case Reports, Vol 12 (2024)
Plaque-like cutaneous mucinosis (PCM) is a rare atypical subtype of Lichen myxedematosus, characterized by hyperpigmented plaques typically found on the midline trunk. We report the case of a 26-year-old woman with a 1-year history of painful, prurit
Externí odkaz:
https://doaj.org/article/540a1956fb29417baa51181745c15395
Autor:
Kakha Bregvadze, Anastasia Sukhiashvili, Megi Lartsuliani, Elene Melikidze, Tinatin Tkemaladze
Publikováno v:
SAGE Open Medical Case Reports, Vol 12 (2024)
The cohesin protein complex plays a vital role in various cellular processes such as sister chromatid cohesion, chromosome condensation, DNA repair, and transcriptional regulation. It is constituted by SMC1, SMC3, RAD21, STAG1/STAG2 subunits, and sev
Externí odkaz:
https://doaj.org/article/fe0c240471614208b0030e3015f7bcae
Publikováno v:
SAGE Open Medical Case Reports, Vol 12 (2024)
Germline pathogenic variants found in the phosphatase and tensin homolog gene are associated with a range of rare syndromes that collectively fall under the umbrella of phosphatase and tensin homolog hamartoma tumor syndromes. Due to the wide array o
Externí odkaz:
https://doaj.org/article/afa6763a4e654d9395c9eb47ecbbc06f
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
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 COL4A3, COL4A4, and COL4A5 genes. The phenotypes can
Externí odkaz:
https://doaj.org/article/d85c872c614c4b75a0c729d479e670a6
Publikováno v:
SAGE Open Medical Case Reports, Vol 11 (2023)
Chromosome 9p duplication, also known as a partial trisomy 9p, is a rare chromosome abnormality due to a duplication of the partial short arm of chromosome 9. More than 200 cases are reported in the literature. Major clinical findings include short s
Externí odkaz:
https://doaj.org/article/bed67c8d522a4e39a2dac02ba29a1510
Autor:
Tinatin Tkemaladze, Kakha Bregvadze, Eka Kvaratskhelia, Manish Aaryan Kapoor, Nino Orjonikidze, Elene Abzianidze
Publikováno v:
SAGE Open Medical Case Reports, Vol 10 (2022)
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. Although autosoma
Externí odkaz:
https://doaj.org/article/37267cc55c0e4a469ec170821a5ac81c
Autor:
Tinatin, Tkemaladze, Kakha, Bregvadze, Mikheil, Gogoberishvili, Tamari, Sopromadze-Diebold, Elene, Abzianidze
Publikováno v:
SAGE Open Medical Case Reports; 7/10/2023, p1-4, 4p
Publikováno v:
EXPERIMENTAL & CLINICAL MEDICINE GEORGIA.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::321b3483e2aa7b867a4c8ab580c0c2e0
https://doi.org/10.52340/jecm.2022.06.05.10
https://doi.org/10.52340/jecm.2022.06.05.10
Autor:
Kakha Bregvadze
Publikováno v:
Airway pharmacology and treatment.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7309fe26fce6f4f9cda2b811c5ba747b
https://doi.org/10.1183/13993003.congress-2019.pa4242
https://doi.org/10.1183/13993003.congress-2019.pa4242