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10 results on '"Hansdah, Kirtal"'

4. The risks of RELN polymorphisms and its expression in the development of otosclerosis

Author

Priyadarshi, Saurabh, primary, Hansdah, Kirtal, additional, Singh, Neha, additional, Bouzid, Amal, additional, Ray, Chinmay Sundar, additional, Panda, Khirod Chandra, additional, Biswal, Narayan Chandra, additional, Desai, Ashim, additional, Choudhury, Jyotish Chandra, additional, Tekari, Adel, additional, Masmoudi, Saber, additional, and Ramchander, Puppala Venkat, additional

Published
2022
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5. Genetic Association of rs1021188 and DNA Methylation Signatures of TNFSF11 in the Risk of Conductive Hearing Loss

Author

Bouzid, Amal, primary, Chelly, Ameni, additional, Tekari, Adel, additional, Singh, Neha, additional, Hansdah, Kirtal, additional, Achour, Imen, additional, Ben Ayed, Ikhlas, additional, Jbeli, Fida, additional, Charfeddine, Ilhem, additional, Ramchander, Puppala Venkat, additional, Hamoudi, Rifat, additional, and Masmoudi, Saber, additional

Published
2022
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6. Evaluation of the Genetic Association and mRNA Expression of the COL1A1, BMP2, and BMP4 Genes in the Development of Otosclerosis

Author

Hansdah, Kirtal, primary, Singh, Neha, additional, Bouzid, Amal, additional, Priyadarshi, Saurabh, additional, Ray, Chinmay Sundar, additional, Desai, Ashim, additional, Panda, Khirod Chandra, additional, Choudhury, Jyotish Chandra, additional, Biswal, Narayan Chandra, additional, Tekari, Adel, additional, Masmoudi, Saber, additional, and Ramchander, Puppala Venkat, additional

Published
2020
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7. Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis

Author

Bouzid, Amal, primary, Tekari, Adel, additional, Jbeli, Fida, additional, Chakroun, Amine, additional, Hansdah, Kirtal, additional, Souissi, Amal, additional, Singh, Neha, additional, Mosrati, Mohamed Ali, additional, Achour, Imen, additional, Ghorbel, Abdelmonem, additional, Charfeddine, Ilhem, additional, Ramchander, Puppala Venkat, additional, and Masmoudi, Saber, additional

Published
2019
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10. Otosclerosis Associated with a De Novo Mutation -832G > A in the TGFB1 Gene Promoter Causing a Decreased Expression Level.

Author

Priyadarshi S, Hansdah K, Ray CS, Biswal NC, and Ramchander PV

Subjects
Adult, Female, Gene Expression, Genetic Testing, Heredity, Humans, Male, Middle Aged, Young Adult, Genetic Predisposition to Disease, Otosclerosis genetics, Otosclerosis pathology, Point Mutation, Promoter Regions, Genetic, Transforming Growth Factor beta1 biosynthesis, Transforming Growth Factor beta1 genetics
Abstract

Otosclerosis (OTSC) is defined by abnormal bone remodeling in the otic capsule of middle ear which leads to conductive hearing loss. In our previous study, we have identified a de novo heterozygous mutation -832G > A in the promoter of TGFB1 in an otosclerosis patient. In the present study, we progressively screened this mutation in a cohort of 254 cases and 262 controls. The family members of the patient positive for -832G > A variation were also screened and found inheritance of this variation only to her daughter. Interestingly, this variation is associated with a decreased level of the TGFB1 transcript in the patient compared to her parents and controls. In silico analysis of this mutation predicted the altered binding of two transcription factors v-Myb and MZF1 in the mutated promoter sequence. Further, functional analysis of this mutation using in vitro luciferase and electrophoretic mobility shift assays revealed that this variation is associated with decreased gene expression. In conclusion, this study established the fact that TGFB1 mutation -832G > A altered the TGFB1 promoter activity, which could affect the susceptibility to otosclerosis development. Further, systemic analysis of TGFB1 gene sequence and expression analysis of this gene might reveal its precise role in the pathogenesis of otosclerosis.

Published
2016
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