Zobrazeno 1 - 10
of 180
pro vyhledávání: '"Kasturi Haldar"'
Publikováno v:
PLoS Pathogens, Vol 19, Iss 11 (2023)
Externí odkaz:
https://doaj.org/article/393cff552d5548aa8fc03aaf817ca73c
Autor:
Tyson W. Lager, Junjun Zuo, Md Suhail Alam, Barbara Calhoun, Kasturi Haldar, Athanasia D. Panopoulos
Publikováno v:
Stem Cell Research, Vol 62, Iss , Pp 102799- (2022)
Kabuki syndrome (KS) is a rare genetic disorder typically characterized by facial abnormalities, developmental delay, cognitive dysfunction, and organ impairment. In this report, fibroblast cells obtained from a KS patient containing a heterozygous K
Externí odkaz:
https://doaj.org/article/4d1105d2578b4147b76cb7f03da6626e
Autor:
Maisha Khair Nima, Angana Mukherjee, Saiful Arefeen Sazed, Muhammad Riadul Haque Hossainey, Ching Swe Phru, Fatema Tuj Johora, Innocent Safeukui, Anjan Saha, Afsana Alamgir Khan, Aung Swi Prue Marma, Russell E. Ware, Narla Mohandas, Barbara Calhoun, Rashidul Haque, Wasif Ali Khan, Mohammad Shafiul Alam, Kasturi Haldar
Publikováno v:
mBio, Vol 13, Iss 1 (2022)
ABSTRACT Emerging resistance to artemisinin drugs threatens the elimination of malaria. Resistance is widespread in South East Asia (SEA) and Myanmar. Neighboring Bangladesh, where 90% of infections occur in the Chittagong Hill Tracts (CHTs), lacks r
Externí odkaz:
https://doaj.org/article/793f8d0f3d01417f81e2313a98837877
Autor:
Fang Liu, Barbara Calhoun, Md. Suhail Alam, Miaomiao Sun, Xuechun Wang, Chao Zhang, Kasturi Haldar, Xin Lu
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background von Hippel-Lindau (VHL) disease is a familial neoplasia syndrome that results from the germline mutation of VHL. Pathogenic VHL mutations include deletion, frameshift, nonsense and missense mutations. Synonymous mutations are expe
Externí odkaz:
https://doaj.org/article/daccc649e19049f383c7b451b9e4c3df
Publikováno v:
PLoS Pathogens, Vol 17, Iss 11 (2021)
Externí odkaz:
https://doaj.org/article/f4c14263c5e840f3894de428ac1e17a2
Autor:
Kasturi Haldar
Publikováno v:
PLoS Pathogens, Vol 17, Iss 3, p e1009390 (2021)
Externí odkaz:
https://doaj.org/article/bed05bd9798c43de986fad9428d64f1e
Publikováno v:
PLoS Genetics, Vol 17, Iss 2, p e1009307 (2021)
Hundreds of mutations in a single gene result in rare diseases, but why mutations induce severe or attenuated states remains poorly understood. Defect in glycine decarboxylase (GLDC) causes Non-ketotic Hyperglycinemia (NKH), a neurological disease as
Externí odkaz:
https://doaj.org/article/1a107e3d59df4599b5dcc168e3e941b1
Publikováno v:
PLoS Computational Biology, Vol 16, Iss 5, p e1007871 (2020)
Monogenetic diseases provide unique opportunity for studying complex, clinical states that underlie neurological severity. Loss of glycine decarboxylase (GLDC) can severely impact neurological development as seen in non-ketotic hyperglycinemia (NKH).
Externí odkaz:
https://doaj.org/article/cf9cd6e43583450cb1d07767c0261897
Autor:
Francisco R Fields, Niraja Suresh, Morgan Hiller, Stefan D Freed, Kasturi Haldar, Shaun W Lee
Publikováno v:
PLoS ONE, Vol 15, Iss 11, p e0234100 (2020)
Von Hippel-Lindau disease (VHL) is an autosomal dominant rare disease that causes the formation of angiogenic tumors. When functional, pVHL acts as an E3 ubiquitin ligase that negatively regulates hypoxia inducible factor (HIF). Genetic mutations tha
Externí odkaz:
https://doaj.org/article/6952bb715e1b42b7baf6be868c1fe731
Autor:
Kristina Kesely, Panae Noomuna, Michal Vieth, Philip Hipskind, Kasturi Haldar, Antonella Pantaleo, Francesco Turrini, Philip S Low
Publikováno v:
PLoS ONE, Vol 15, Iss 11, p e0242372 (2020)
Although current malaria therapies inhibit pathways encoded in the parasite's genome, we have looked for anti-malaria drugs that can target an erythrocyte component because development of drug resistance might be suppressed if the parasite cannot mut
Externí odkaz:
https://doaj.org/article/7bd3e87464514f60b6171ec47a8b2dec