Results 11 to 20 of about 390,058 (293)

A new pathogenic POLG variant

Molecular Genetics and Metabolism Reports, 2022
POLG gene mutations are the most common causes of inherited mitochondrial disorders. The enzyme produced by this gene is responsible for the replication and repair of mitochondrial DNA. To date, around 300 pathogenic variants have been described in this gene.
Nicholas Russo, S, Shah, Ekta G, Copeland, William C, Koenig, Mary Kay   +3 more
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TP53 PATHOGENIC VARIANTS RELATED TO CANCER [PDF]

Journal of Basic and Applied Genetics, 2019
TP53 or P53 is a tumor suppressor gene known as the “genome guardian”, responsible for inducing cell response to DNA damage, by stopping the cell cycle in case of mutation, activating DNA repair enzymes, initiating senescence and activation of apoptosis. Mutations in the gene sequence can cause non-synonymous mutations or errors in the reading frame by
Rosero, C.Y, Mejía, L., Corredor, M., Rosero, CY   +3 more
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Using reported pathogenic variants to identify therapeutic opportunities for genetic diseases

Molecular Genetics & Genomic Medicine, 2023
Purpose Drug development strategies for genetic diseases depend critically on accurate knowledge of how pathogenic variants cause disease. For some well‐studied genes, the direct effects of pathogenic variants are well documented as loss‐of‐function ...
Andrew K. Ressler, David B. Goldstein
doaj   +1 more source

Incidence of premature ovarian failure and early menopause in carriers of BRCA1 pathogenic variants [PDF]

Гинекология, 2022
Aim. To determine the incidence of premature ovarian failure (POF) and early menopause with regard to reproductive status in carriers of the pathogenic variant of the BRCA1 gene. Materials and methods. According to the inclusion and exclusion criteria,
Sandra D. Rshtuni, Galina E. Chernukha, Andrew E. Donnikov, Gyuzyal I. Tabeeva, Olga V. Burmenskaya, Larisa A. Marchenko   +5 more
doaj   +1 more source

Evolutionary Origin of MUTYH Germline Pathogenic Variations in Modern Humans

Biomolecules, 2023
MUTYH plays an essential role in preventing oxidation-caused DNA damage. Pathogenic germline variations in MUTYH damage its function, causing intestinal polyposis and colorectal cancer.
Fengxia Xiao, Jiaheng Li, Philip Naderev Panuringan Lagniton, Si Hoi Kou, Huijun Lei, Benjamin Tam, San Ming Wang   +6 more
doaj   +1 more source

Genetic Basis of Early Onset Atrial Fibrillation in Patients without Risk Factors

Journal of Cardiovascular Development and Disease, 2023
Background: Atrial fibrillation (AF) is the most common arrhythmia and typically occurs in elderly patients with other cardiovascular and extracardiac diseases. However, up to 15% of AF develops without any related risk factors.
Irina Rudaka, Baiba Vilne, Jekaterina Isakova, Oskars Kalejs, Linda Gailite, Dmitrijs Rots   +5 more
doaj   +1 more source

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1 [PDF]

, 2017
Background: Syntaxin-binding protein 1, encoded by STXBP1, is highly expressed in the brain and involved in fusing synaptic vesicles with the plasma membrane.
Baker, K, Clayton-Smith, J, Dabir, T, DDD Study, Evers, JMG, Josifova, D, Joss, S, Kerr, B, Kraus, A, Laskowski, RA, McEntagart, M, Morton, J, O'Brien, S, Smith, A, Splitt, M, Suri, M, Thornton, JM, Wright, CF   +17 more
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Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients

Hereditary Cancer in Clinical Practice, 2019
Background Pathogenic germline variants in MLH1, MSH2 and MSH6 genes account for the majority of Lynch syndrome (LS). In this first report from Pakistan, we investigated the prevalence of pathogenic MLH1/MSH2/MSH6 variants in colorectal cancer (CRC ...
Muhammad Usman Rashid, Humaira Naeemi, Noor Muhammad, Asif Loya, Jan Lubiński, Anna Jakubowska, Muhammed Aasim Yusuf   +6 more
doaj   +1 more source

Host plant-dependent phenotypic reversion of Ralstonia solanacearum from non-pathogenic to pathogenic forms via alterations in the phcA gene [PDF]

, 2003
Ralstonia solanacearum is a plant pathogenic bacterium that undergoes a spontaneous phenotypic conversion (PC) from a wild-type pathogenic to a non-pathogenic form.
Arlat, Mathieu, Barthet, Séverine, Meyer, Damien, Poussier, Stéphane, Thoquet, Philippe, Trigalet Démery, Danièle, Trigalet, André   +6 more
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MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants [PDF]

Genetics in Medicine, 2019
Heritable thoracic aortic disease can result from null variants in MYLK, which encodes myosin light-chain kinase (MLCK). Data on which MYLK missense variants are pathogenic and information to guide aortic disease management are limited.Clinical data from 60 cases with MYLK pathogenic variants were analyzed (five null and two missense variants), and the
Wallace S. E., Regalado E. S., Gong L., Janda A. L., Guo D. -C., Russo C. F., Kulmacz R. J., Hanna N., Jondeau G., Boileau C., Arnaud P., Lee K., Leal S. M., Hannuksela M., Carlberg B., Johnston T., Antolik C., Hostetler E. M., Colombo R., Milewicz D. M.   +19 more
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