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1.
J Genet ; 1002021.
Artículo en Inglés | MEDLINE | ID: mdl-34187973

RESUMEN

ADP ribosylation factor like protein 15 (ARL15) was identified as a novel susceptibility gene for rheumatoid arthritis (RA) based on a genomewide association study in a north Indian cohort. Mechanism of its action and functional relevance in RA biology remain largely unknown. In this study, we aimed to establish (i) ARL15 protein level in sera samples of RA patients; and (ii) its correlation, if any, with the RA associated ARL15 intronic single-nucleotide polymorphism (SNP) rs255758 (A>C). DNA, RNA and sera were isolated from blood samples of 117 RA patients and 25 age-matched healthy controls recruited at All India Institute of Medical Sciences, New Delhi with institutional ethical committee clearance. SNP rs255758 (A>C) was genotyped by Sanger sequencing; ARL15 RNA and protein levels were estimated by quantitative polymerase chain reaction (qPCR) and enzyme-linked immunosorbent assay (ELISA), respectively; and genotype-phenotype correlation established using Mann-Whitney nonparametric test. Very low level of ARL15 expression in human blood was confirmed at both RNA and protein levels. Genotype-wise distribution showed increased levels (P = 0.05) of ARL15 protein in RA patients with the homozygous variant (CC) as compared to AA + AC genotypes of rs255758. This first-ever correlation between higher ARL15 protein levels and the intronic susceptibility genotype (CC; rs255758) in RA patients may be of diagnostic and therapeutic relevance encouraging additional investigations.


Asunto(s)
Factores de Ribosilacion-ADP/genética , Artritis Reumatoide/genética , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Anciano , Artritis Reumatoide/epidemiología , Artritis Reumatoide/patología , Femenino , Frecuencia de los Genes , Genotipo , Humanos , India/epidemiología , Intrones/genética , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple/genética
2.
J Indian Soc Periodontol ; 19(4): 449-53, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26392697

RESUMEN

A 32-year-old patient with complete denudation of buccal root of tooth no. 14 was referred from the Department of Oral Surgery for opinion, as he was not willing for extraction. Patient's persistent urge to save the tooth, put forth a challenge, which motivated us to tweak the established techniques. The unusual presentation of the case and unexpected par-operative condition of the surgical site required out-of-box measures to deal with the situation. Though, the tooth no. 14 was having Grade-I mobility, it was endodontically treated, buccal root was resected, osseous graft was applied over the deficient ridge area and lateral pedicle flap was displaced over the short root-trunk area to cover the surgical site. To our astonishment, the tooth survived, mobility was reduced and complete coverage with soft-tissue was observed. Uneventful healing with stable gingival margin was observed at 3-month interval, which remained stationary at 1-year follow-up.

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