Results 21 to 30 of about 1,195,963 (357)

Acute myeloid leukemia in SRP54‐mutated congenital neutropenia

eJHaem, 2022
SRP54 mutations have recently been implicated in congenital neutropenia (CN) and the in‐frame deletion, p.Thr117del, is the most common pathogenic mutation reported.
Anthony Sabulski, David D. Grier, Kasiani C. Myers, Stella M. Davies, Jeremy D. Rubinstein   +4 more
doaj   +1 more source

SARS-CoV-2 Whole-Genome Sequencing by Ion S5 Technology—Challenges, Protocol Optimization and Success Rates for Different Strains

Viruses, 2022
The COVID-19 pandemic demonstrated how rapidly various molecular methods can be adapted for a Public Health Emergency. Whether a need arises for whole-genome studies (next-generation sequencing), fast and high-throughput diagnostics (reverse ...
Maria Szargut, Sandra Cytacka, Karol Serwin, Anna Urbańska, Romain Gastineau, Miłosz Parczewski, Andrzej Ossowski   +6 more
doaj   +1 more source

Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Chan, JK, Howe, SJ, McKay, TR, Rahim, AA, Waddington, SN, Ward, NJ   +6 more
core   +1 more source

The roles of endoglin gene in cerebrovascular diseases. [PDF]

, 2017
Endoglin (ENG, also known as CD105) is a transforming growth factor β (TGFβ) associated receptor and is required for both vasculogenesis and angiogenesis.
Ma, Li, Su, Hua, Zhang, Rui, Zhu, Wan
core   +2 more sources

NHEJ Deficiency and Disease [PDF]

Molecular Cell, 2001
In mouse and human, diseases associated with deficiency of DNA ligase IV, a protein involved in DNA double-strand break repair, have been identified. Manifestation of some of these disease phenotypes, namely tumorigenesis, may require additional checkpoint deficiencies.
Pierce, Andrew J., Jasin, Maria
openaire   +2 more sources

Therapeutic potential of co-enzyme Q10 in retinal diseases [PDF]

, 2017
Coenzyme Q10 (CoQ10) plays a critical role in mitochondrial oxidative phosphorylation by serving as an electron carrier in the respiratory electron transport chain.
Marcheggiani, Fabio, Reilly, James, Shu, Xinhua, Tiano, Luca, Tohari, Ali Mohammad, Zhang, Xun, Zhou, Xinzhi   +6 more
core   +1 more source

A Case of Progressive Multifocal Leucoencephalopathy and Cerebral Toxoplasmosis in an HIV-Infected Patient

Acta Medica Bulgarica, 2023
Progressive multifocal leukoencephalopathy (PML) is an opportunistic infection of the central nervous system (CNS) caused by the reactivation of John Cunningham polyomavirus (JCV).
Yancheva-Petrova N., Grozdeva R., Nikolova M., Aleksiev I., Rainova I., Tsvetkova N., Strashimirov D.   +6 more
doaj   +1 more source

In vitro characterization of mitochondrial function and structure in rat and human cells with a deficiency of the NADH:ubiquinone oxidoreductase Ndufc2 subunit [PDF]

, 2017
Ndufc2, a subunit of the NADH:ubiquinone oxidoreductase, plays a key role in the assembly and activity of complex I within the mitochondrial OXPHOS chain. Its deficiency has been shown to be involved in diabetes, cancer and stroke.
1000 Genomes Project Consortium, Andrea Micaloni, Aron M Geurts, Baltan, Baltan, Baltan, Carta, Chin, Cristina Scrofani, De Smaele, Franca Bianchi, Galmozzi, Gershoni, Hackenbrock, Hackenbrock, Igci, Koopman, Leonard, Leone, Maria Rosaria Torrisi, Massimo Volpe, Maurizio Forte, Mimaki, Olsson, Putignani, Raffa, Roberta Coluccia, Rossignol, Rubattu, Rubattu, Sabatino Valente, Salvatore Raffa, Scalettar, Sebastiano Sciarretta, Shi, Smeitink, Speranza Rubattu, Turrens, Willems   +38 more
core   +1 more source

Transmitted drug resistance to rilpivirine among antiretroviral‐naïve patients living with HIV from northern Poland

Journal of the International AIDS Society, 2014
Introduction Rilpivirine (RPV) is a second‐generation non‐nucleoside reverse transcriptase inhibitor (NNRTI) that was recently approved for the treatment of antiretroviral‐naïve individuals with HIV‐1 viral load of
Miłosz Parczewski, Anna Urbańska, Katarzyna Maciejewska, Magdalena Witak‐Jȩdra, Magdalena Leszczyszyn‐Pynka   +4 more
doaj   +1 more source

Trace elements in human nutrition (ii) – An update

International Journal of Preventive Medicine, 2020
The dietary requirement for an essential trace element is an intake level which meets a specified criterion for adequacy and thereby minimizes risk of nutrient deficiency or excess.
Aliasgharpour Mehri
doaj   +1 more source