Publications by authors named "S N Shankhwar"
Article Synopsis
- The study investigated the CTBP2 gene and its relation to anorexia nervosa (AN) and body mass index (BMI) through mutation analysis, revealing 24 variants in the RIBEYE exon among various groups including patients with AN, obese children, and healthy individuals.
- Three rare non-synonymous variants were found in AN patients, while several variants were unique to children with severe obesity, indicating potential genetic links to these conditions.
- Functional studies showed that RIBEYE mRNA is expressed in the mouse hypothalamus and is influenced by leptin treatment, suggesting that the RIBEYE gene may play a role in body weight regulation.
Synaptic ribbons are presynaptic specializations that define eponymous ribbon synapses. Synaptic ribbons are largely composed of RIBEYE, a protein containing an N-terminal A-domain and a carboxyterminal B-domain that is identical with CtBP2, a NAD(H)-binding transcriptional co-repressor. Previously we showed that synaptic ribbons are completely absent in RIBEYE knockout mice in which the RIBEYE A-domain-encoding exon had been deleted, but CtBP2 is still made, demonstrating that the A-domain is required for synaptic ribbon assembly.
View Article and Find Full Text PDFGATA , , has now been demonstrated as a valuable and sensitive marker for conventional urothelial carcinoma with sparse literature related to its expression in various histological variants. It is a prospective study where 74 consecutive cases of bladder carcinoma were included between August 2016 and January 2017 followed by immunohistochemistry to assess GATA 3 expression in conventional as well as different urothelial carcinoma (UC) variants. Overall, 57 of the 74 lesions (77%) demonstrated nuclear staining for GATA 3.
View Article and Find Full Text PDFDiagnostic utility of GATA3 immunohistochemical expression in urothelial carcinoma.
Indian J Pathol Microbiol
August 2019
Aims: This study aims to explore the utility of GATA binding protein 3, a zinc finger transcription factor, expression in genitourinary carcinoma, especially urothelial carcinoma.
Settings And Design: It is a prospective study where 74 consecutive cases of urothelial carcinoma along with 10 cases each of prostatic adenocarcinoma (PC) and conventional clear cell renal cell carcinoma were included between August 2016 and January 2017.
Methods And Materials: All the cases were histopathologically evaluated and immunohistochemically stained for GATA binding protein 3.