Publications by authors named "V A Kothiwale"
The cytosolic capping protein, Arp2/3 and myosin-I linker protein 2 or CARMIL2 plays an important role in T/B/NK cell function. Biallelic disease causing variants in CARMIL2 are known to cause immunodeficiency 58. We report a 13-year-old girl with recurrent infections, dermatitis and nephrotic syndrome since childhood.
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- Advances in genomic technologies have improved the understanding of epilepsy's genetic factors, aiding in diagnosis, treatment, and genetic counseling for affected families.
- In a study of 142 Indian families, 44% received a clear epilepsy syndrome diagnosis, with a significant portion linked to severe conditions like developmental epileptic encephalopathy.
- A definitive molecular diagnosis was achieved in 52% of families, uncovering various genetic disorders and variants, many of which were novel and had notable implications for treatment and recurrence risk.
Association of Lipoprotein (a) in Coronary Artery Disease in Young Individuals.
J Assoc Physicians India
April 2022
Unlabelled: Coronary artery disease (CAD) is one of the commonest heart diseases, accounting for 5-8% global prevalence. Recent studies show a prevalence of 1.2% of CAD cases in young age group.
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