Results 11 to 20 of about 1,154,840 (260)
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
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Antibody deficiency diseases [PDF]
European Journal of Immunology, 2008 AbstractPrimary immunodeficiency diseases are rare disorders characterized by quantitative or qualitative defects in cells or components in the immune system, resulting in a high degree of susceptibility to various types of infections. During differentiation, stem cells undergo a series of discrete steps, governed by a large number of different genes ...
Lennart Hammarström +1 more
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Owren's Disease: A Rare Deficiency [PDF]
Cureus, 2021 Factor V deficiency is a rare bleeding disorder, which may be due to acquired inhibitors or biallelic mutations. Factor V deficiency due to homozygous or compound heterozygous mutation (also known as Owren's disease or parahemophilia) has an estimated prevalence of one in one million people.
Hassan Mumtaz +4 more
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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 +4 more
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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 +6 more
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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. +6 more
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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 +6 more
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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
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Iron deficiency and cardiovascular disease
European Heart Journal, 2022 AbstractIron deficiency (ID) is common in patients with cardiovascular disease. Up to 60% of patients with coronary artery disease, and an even higher proportion of those with heart failure (HF) or pulmonary hypertension have ID; the evidence for cerebrovascular disease, aortic stenosis and atrial fibrillation is less robust.
Gianluigi Savarese +5 more
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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
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