Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Navneesh Yadav"'
Publikováno v:
Dystonia, Vol 3 (2024)
BackgroundThe clinical differentiation between essential tremor plus (ETP) and dystonic tremor (DT) is challenging. This study aimed at the genetic diagnosis of ETP and DT.MethodsWhole exome sequencing was performed on 50 probands (ETP = 25; DT = 25)
Externí odkaz:
https://doaj.org/article/b4e5d0ad5f594992ab23432b6a0ab5df
Autor:
Navneesh Yadav, Laxmi Kirola, Thenral S Geetha, Kirti Mittal, Jayarama Kadandale, Yuval Yogev, Ohad S. Birk, Neerja Gupta, Prahlad Balakrishnan, Manisha Jana, Meena Gupta, Madhulika Kabra, Bittianda Kuttapa Thelma
Publikováno v:
Annals of Human Genetics. 86:245-256
Primary microcephaly and Seckel syndrome are rare genetically and clinically heterogenous brain development disorders. Several exonic/splicing mutations are reported for these disorders to date, but ∼40% of all cases remain unexplained. We aimed to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c6c005583ccfd25de71cc094aa5de55
https://doi.org/10.1111/ahg.12469
https://doi.org/10.1111/ahg.12469
Autor:
Navneesh, Yadav, B K, Thelma
Publikováno v:
Journal of biosciences. 47
Functional characterization of gene(s) using a transgene approach in a human cell line or in an animal model generally poses limitations due to persistent transgene overexpression. Conversely, the CRISPR/Cas9 geneediting technology enables precise va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5a1b3989335e26f6e7e4187cfb519e66
https://pubmed.ncbi.nlm.nih.gov/36503909
https://pubmed.ncbi.nlm.nih.gov/36503909
Autor:
Navneesh Yadav, B. K. Thelma
Nicotinic acetylcholine receptor (nAChR) dysregulation in astrocytes is reported in neurodegenerative disorders. Modulation of nAChRs through agonists confers protection to astrocytes from stress but regulation of chaperones is unclear. Resistance to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42ae429fbc7e4e479923defcac2b3ebf
https://doi.org/10.1101/2022.07.18.500445
https://doi.org/10.1101/2022.07.18.500445
Autor:
B.K. Thelma, Navneesh Yadav, Upasana Bhattacharyya, Triptish Bhatia, Smita N. Deshpande, Vishwajit L. Nimgaonkar, Prachi Kukshal, Jibin John
Publikováno v:
Schizophr Res
Schizophrenia is a clinically and genetically heterogeneous neuropsychiatric disorder, with a polygenic basis but identification of the specific determinants is a continuing challenge. In this study, we analyzed a multigenerational family, with all h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c7a8dbf86608abc8921a66b4368fc52
https://doi.org/10.1016/j.schres.2019.11.041
https://doi.org/10.1016/j.schres.2019.11.041
Publikováno v:
Role of Microorganisms in Pathogenesis and Management of Autoimmune Diseases ISBN: 9789811947995
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10fb235332908c3abaa64840897d1be6
https://doi.org/10.1007/978-981-19-4800-8_9
https://doi.org/10.1007/978-981-19-4800-8_9
Publikováno v:
Journal of Genetics. 97:625-648
Neurodegenerative diseases constitute a large proportion of disorders in elderly, majority being sporadic in occurrence with $$\sim $$ 5–10% familial. A strong genetic component underlies the Mendelian forms but nongenetic factors together with gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2659d5fca283c2f307b1020bb33feec0
https://doi.org/10.1007/s12041-018-0953-5
https://doi.org/10.1007/s12041-018-0953-5