Results 21 to 30 of about 10,522,214 (426)

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.
Maria Jasin, Andrew J. Pierce
openaire   +3 more sources

COVID-19 vaccination in patients with primary immunodeficiencies: an international survey on patient vaccine hesitancy and self-reported adverse events

Frontiers in Immunology, 2023
IntroductionThe Sars-CoV-2 pandemic caused great concern for this novel virus among patients with primary immunodeficiency (PID) or inborn errors of immunity (IEI) and their families.
Martine Pergent, Filomeen Haerynck, Filomeen Haerynck, Levi Hoste, Levi Hoste, Ann Gardulf, Ann Gardulf, Ann Gardulf   +7 more
doaj   +1 more source

Health Benefits of Micronutrients (Vitamins and Minerals) and their Associated Deficiency Diseases: A Systematic Review

International journal of food Science, 2020
The research focused on the benefits of micronutrients (vitamins and minerals) and their associated deficiency diseases and health complications. Micronutrients are essential elements required by human and other organisms in varying quantities throughout
Awuchi Godswill Godswill, Igwe Victory Somtochukwu, Amagwula O Ikechukwu, Echeta Chinelo Kate   +3 more
semanticscholar   +1 more source

Molecular epidemiology and HIV-1 variant evolution in Poland between 2015 and 2019

Scientific Reports, 2021
The occurrence of HIV-1 subtypes differs worldwide and within Europe, with non-B variants mainly found across different exposure groups. In this study, we investigated the distribution and temporal trends in HIV-1 subtype variability across Poland ...
Karol Serwin, Anna Urbańska, Kaja Scheibe, Magdalena Witak-Jędra, Maria Jankowska, Maria Hlebowicz, Monika Bociąga-Jasik, Anna Kalinowska-Nowak, Martyna Biała, Hubert Ciepłucha, Władysław Łojewski, Anita Olczak, Elżbieta Jabłonowska, Aldona Kowalczuk-Kot, Błażej Rozpłochowski, Adam Witor, Miłosz Parczewski   +16 more
doaj   +1 more source

Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency

Orphanet Journal of Rare Diseases, 2021
Background Adenylosuccinate lyase deficiency (ADSLD) is an ultrarare neurometabolic recessive disorder caused by loss-of-function mutations in the ADSL gene. The disease is characterized by wide clinical variability.
Gerarda Mastrogiorgio, Marina Macchiaiolo, Paola Sabrina Buonuomo, Emanuele Bellacchio, Matteo Bordi, Davide Vecchio, Kari Payne Brown, Natalie Karen Watson, Benedetta Contardi, Francesco Cecconi, Marco Tartaglia, Andrea Bartuli   +11 more
doaj   +1 more source

Programmed Cell Death-1/Programmed Cell Death-1 Ligand as Prognostic Markers of Coronavirus Disease 2019 Severity

Cells, 2022
Current research proves that immune dysregulation is a common feature of coronavirus disease 2019 (COVID-19), and immune exhaustion is associated with increased disease mortality.
Paulina Niedźwiedzka-Rystwej, Adam Majchrzak, Bogusz Aksak-Wąs, Karol Serwin, Zenon Czajkowski, Ewelina Grywalska, Izabela Korona-Głowniak, Jacek Roliński, Miłosz Parczewski   +8 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

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

Neurodegenerative Diseases – Is Metabolic Deficiency the Root Cause?

Frontiers in Neuroscience, 2020
Neurodegenerative diseases, including Alzheimer, Parkinson, Huntington, and amyotrophic lateral sclerosis, are a prominent class of neurological diseases currently without a cure. They are characterized by an inexorable loss of a specific type of neurons.
V. R. Muddapu, S. Dharshini, V. Chakravarthy, M. M. Gromiha   +3 more
semanticscholar   +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