Zobrazeno 1 - 10
of 191
pro vyhledávání: '"Mohammed, Faruq"'
Autor:
Varun Suroliya, Bharathram Uppili, Manish Kumar, Vineet Jha, Achal K. Srivastava, Mohammed Faruq
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-8 (2024)
Abstract Tandem nucleotide repeat (TNR) expansions, particularly the CNG nucleotide configuration, are associated with a variety of neurodegenerative disorders. In this study, we aimed to identify novel unstable CNG repeat loci associated with the ne
Externí odkaz:
https://doaj.org/article/85352b10f56c4571aca6372d342666bb
Publikováno v:
Stem Cell Research, Vol 80, Iss , Pp 103520- (2024)
SQSTM1 (Sequestosome 1) also known as p62, plays several important physiological roles in the cell. It regulates autophagy and mitochondrial homeostasis and can further lead to metabolic reprogramming. Pathogenic variants in SQSTM1 gene are known to
Externí odkaz:
https://doaj.org/article/9c6f5ddb1f38475baf9ad3af7d5a4677
Autor:
Ayush Aggarwal, Ayesha Nasreen, Babita Sharma, Sarthak Sahoo, Keerthic Aswin, Mohammed Faruq, Rajesh Pandey, Mohit K Jolly, Abhyudai Singh, Rajesh S Gokhale, Vivek T Natarajan
Publikováno v:
PLoS Biology, Vol 22, Iss 8, p e3002776 (2024)
The ultraviolet (UV) radiation triggers a pigmentation response in human skin, wherein, melanocytes rapidly activate divergent maturation and proliferation programs. Using single-cell sequencing, we demonstrate that these 2 programs are segregated in
Externí odkaz:
https://doaj.org/article/a74ff563665243e9b50e43d5b38d2102
Autor:
Istaq Ahmad, Asangla Kamai, Sana Zahra, Himanshi Kapoor, Achal Kumar Srivastava, Mohammed Faruq
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103382- (2024)
Friedreich’s ataxia is a spinocerebellar degenerative disease caused by microsatellite (GAA.TTC)n repeat expansion in the first intron of FXN gene. Here, we developed iPSC lines from an FRDA patient (IGIBi016-A) and non-FRDA healthy control (IGIBi0
Externí odkaz:
https://doaj.org/article/29928c4f5ce84429a23141b9fdcf84ca
Autor:
Manish Kumar, Shweta Sahni, Vivekanand A, Deepak Kumar, Neetu Kushwah, Divya Goel, Himanshi Kapoor, Achal K. Srivastava, Mohammed Faruq
Publikováno v:
iScience, Vol 27, Iss 5, Pp 109768- (2024)
Summary: Spinocerebellar Ataxia type-12 (SCA12) is a neurodegenerative disease caused by tandem CAG repeat expansion in the 5′-UTR/non-coding region of PPP2R2B. Molecular pathology of SCA12 has not been studied in the context of CAG repeats, and no
Externí odkaz:
https://doaj.org/article/dcb1725da30643518cc31a8f6477c7cb
Autor:
Mukta Verma, Neha Rawat, Ritu Rani, Manju Singh, Aditi Choudhary, Sarfaraz Abbasi, Manish Kumar, Sachin Kumar, Ankur Tanwar, Bishnu Raman Misir, Sangeeta Khanna, Anurag Agrawal, Mohammed Faruq, Shalini Rai, Richa Tripathi, Anil Kumar, Mukta Pujani, Meera Bhojani, Anil Kumar Pandey, Tanuja Nesari, Bhavana Prasher
Publikováno v:
European Journal of Medical Research, Vol 28, Iss 1, Pp 1-17 (2023)
Abstract Background SARS-CoV-2 infections caused mild-to-moderate illness. However, a sizable portion of infected people experience a rapid progression of hyper-inflammatory and hypoxic respiratory illness that necessitates an effective and safer rem
Externí odkaz:
https://doaj.org/article/c4dc24ab5fda4c338c4f1b6ffc1d0ecc
Publikováno v:
Stem Cell Research, Vol 76, Iss , Pp 103340- (2024)
Friedreich’s ataxia is a neurodegenerative disorder caused by the hyper expansion of (GAA-TTC)n triplet repeats in the first intron of the FXN gene. Here, we generated iPSC lines from two individuals with FRDA, both of whom have homozygous GAA repe
Externí odkaz:
https://doaj.org/article/e812e67e0ed54b4b802687511a792370
Autor:
Sana Zahra, Himanshi Kapoor, Istaq Ahmad, Asangla Kamai, Achal Kumar Srivastava, Mohammed Faruq
Publikováno v:
Stem Cell Research, Vol 76, Iss , Pp 103319- (2024)
The PPP2R2B gene, expressed highly in the brain, harbours trinucleotide CAG repeats in the 5′UTR region, in the range of 7–42 repeats. Individuals carrying CAG repeats greater than 43 have been associated to manifest a neurodegenerative disease c
Externí odkaz:
https://doaj.org/article/cef947b1cb80421fa4d80faf59832443
Publikováno v:
Stem Cell Research, Vol 74, Iss , Pp 103289- (2024)
Friedreich's ataxia (FRDA) is a rare neurodegenerative disorder caused by over expansion of GAA repeats in the first intron of FXN gene. Here, we generated two iPSC lines from FRDA patients with biallelic expansion of GAA repeats in the first intron
Externí odkaz:
https://doaj.org/article/e81da6ec21684e2b8cd2705e8ac9cca5
Autor:
Shiffali Khurana, Abhishek Vats, Mandaville Gourie-Devi, Ankkita Sharma, Sagar Verma, Mohammed Faruq, Uma Dhawan, Vibha Taneja
Publikováno v:
Annals of Indian Academy of Neurology, Vol 26, Iss 6, Pp 983-988 (2023)
Monomelic Amyotrophy (MMA) is a rare neurological disorder restricted to one upper limb, predominantly affecting young males with an unknown aetiopathogenesis. We report a familial case of father-son duo affected by MMA. Whole exome sequencing identi
Externí odkaz:
https://doaj.org/article/679b36e57fcb4cc696e63387ad15a8cd