Results 11 to 20 of about 233,128 (302)

Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome

Frontiers in Immunology, 2021
Autoimmune lymphoproliferative syndrome (ALPS) is a primary immune regulatory disorder clinically defined by chronic and benign lymphoproliferation, autoimmunity and an increased risk of lymphoma due to a genetic defect in the FAS-FASL apoptotic pathway.
Marta López-Nevado, Marta López-Nevado, Jorge Docampo-Cordeiro, José T. Ramos, Rebeca Rodríguez-Pena, Celia Gil-López, Silvia Sánchez-Ramón, Juana Gil-Herrera, María J. Díaz-Madroñero, María A. Delgado-Martín, Pablo Morales-Pérez, Pablo Morales-Pérez, Estela Paz-Artal, Estela Paz-Artal, Estela Paz-Artal, Aude Magerus, Frederic Rieux-Laucat, Luis M. Allende, Luis M. Allende, Luis M. Allende   +19 more
doaj   +2 more sources

The evolving landscape of prostate cancer somatic mutations. [PDF]

, 2022
BACKGROUND The landscape of somatic mutations in prostate cancer (PCa) has quickly evolved over the past years. RESULTS This evolution was in part due to the improved quality and lower cost of genomic sequencing platforms available to an ever ...
Cotter, Kellie, Kellie Cotter, Mark A. Rubin, Rubin, Mark A., Rubin, Mark A   +4 more
core   +1 more source

Assessment of somatic mutations in urine and plasma of Wilms tumor patients

Cancer Medicine, 2020
Tumor DNA has been detected in body fluids of cancer patients. Somatic tumor mutations are being used as biomarkers in body fluids to monitor chemotherapy response as a minimally invasive tool.
Ana Carolina Kerekes Miguez, Bruna D. de Figueiredo Barros, Jorge E. S. deSouza, Cecília Maria L. daCosta, Isabela Werneck Cunha, Paula Nicole Vieira P. Barbosa, Maria Lúcia P. Apezzato, Sandro J. deSouza, Dirce Maria Carraro   +8 more
doaj   +1 more source

Cardiovascular and metabolic characters of KCNJ5 somatic mutations in primary aldosteronism

Frontiers in Endocrinology, 2023
BackgroundPrimary aldosteronism (PA) is the leading cause of curable endocrine hypertension, which is associated with a higher risk of cardiovascular and metabolic insults compared to essential hypertension. Aldosterone-producing adenoma (APA) is a major
Yi-Yao Chang, Yi-Yao Chang, Bo-Ching Lee, Zheng-Wei Chen, Cheng-Hsuan Tsai, Chin-Chen Chang, Che-Wei Liao, Chien-Ting Pan, Kang-Yung Peng, Chia-Hung Chou, Ching-Chu Lu, Vin-Cent Wu, Chi-Sheng Hung, Chi-Sheng Hung, Yen-Hung Lin, Yen-Hung Lin, TAIPAI study group   +16 more
doaj   +1 more source

Somatic Mutations in Cardiovascular Disease [PDF]

Circulation Research, 2022
Advances in population-scale genomic sequencing have greatly expanded the understanding of the inherited basis of cardiovascular disease (CVD). Reanalysis of these genomic datasets identified an unexpected risk factor for CVD, somatically acquired DNA mutations. In this review, we provide an overview of somatic mutations and their contributions to CVD.
J. Brett Heimlich, Alexander G. Bick
openaire   +2 more sources

Clinicoprognostical features of endometrial cancer patients with somatic mtDNA mutations [PDF]

, 2006
Somatic mitochondrial DNA (mtDNA) mutations have been found in a subset of endometrial cancers (EC) from different populations. We have investigated the relationship between mtDNA changes and clinical and pathological variables of women affected by ...
Bartnik, Ewa, Lorenc, Anna, Bryk, Jarek, Ewa Bartnik, Semczuk, Andrzej, Putowski, Lechoslaw, Anna Lorenc, Miotla, Pawel, Lechoslaw Putowski, Jaroslaw Bryk, Konrad Futyma, Andrzej Semczuk, Futyma, Konrad, Pawel Miotla   +13 more
core   +1 more source

High prevalence of low-allele-fraction somatic mutations in STAT3 in peripheral blood CD8+ cells in multiple sclerosis patients and controls

PLoS ONE, 2022
Somatic mutations have a central role in cancer, but there are also a few rare autoimmune diseases in which somatic mutations play a major role. We have recently shown that nonsynonymous somatic mutations with low allele fractions are preferentially ...
Miko Valori, Joonas Lehikoinen, Lilja Jansson, Jonna Clancy, Sofie A. Lundgren, Satu Mustjoki, Pentti Tienari   +6 more
doaj   +2 more sources

Comparison of X-ray and gamma-ray dose-response curves for pink somatic mutations in Tradescantia clone 02 [PDF]

, 1976
Microdosimetric data indicate that the mean specific energy,zeta, produced by individual charged particles from X rays and gamma rays is different for the two radiation qualities by nearly a factor of two.
Mills, R. E., Kellerer, Albrecht M., Sparrow, A. H., Underbring, A. G.   +3 more
core   +1 more source

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. [PDF]

, 2011
The biological processes controlling human growth are diverse, complex and poorly understood. Genetic factors are important and human height has been shown to be a highly polygenic trait to which common and rare genetic variation contributes.
Cole, Trevor, Tatton-Brown, Katrina, Douglas, Jenny, Sheila Seal, Loveday, C, Patton, Michael, A Splitt, Ruark, E, Patricia Wheeler, Ra Hanks, Michael Patton, Murray, A, Katie Snape, Ramsay, Emma, Seal, Sheila, Clare Taylor, Ramsay, E, Volker Strenger, Taylor, C, Vivienne Mcconnell, Zachariou, A, Temple, KI, Loveday, Chey, Tatton-Brown, K, Patton, M, Temple, IK, Katrina Tatton-brown, Duarte, SDELV, Seal, S, Douglas, J, Jenny Douglas, Raith, W, Clericuzio, Carol, Temple, I. Karen, Magee, A, Anne Murray, Flinter, F, ?, ?, Splitt, Miranda, Banka, S, Rahman, N, Strenger, V, Flinter, Frances, Trevor Cole, Rankin, Julia, Carol Clericuzio, Snape, Katie, Zachariou, Anna, Temple, Karen I, Anna Zachariou, Murray, Anne, Splitt, M, Julia Rankin, Temple, Karen I., Nazneen Rahman, Elise Ruark, Wheeler, P, Magee, Alex, Childhood Overgrowth Collaboration, The Childhood Overgrowth, Strenger, Volker, Duarte, SDV, I Karen Temple, McConnell, Vivienne, Perdeaux, Elizabeth R, Banka, Siddharth, Clericuzio, C, Hanks, Sandra, Siddharth Banka, Del Vecchio Duarte, Frances Flinter, Wheeler, Patricia, Emma Ramsay, Ruark, Elise, Banka, Siddharth; id_orcid, McConnell, V, Elizabeth R, Perdeaux, ER, Cole, T, Taylor, Clare, Snape, K, Raith, Wolfgang, Chey Loveday, Rahman, Nazneen, Duarte, Silvana Del Vecchio, Hanks, S, Perdeaux, Elizabeth R., Alex Magee, Rankin, J   +88 more
core   +1 more source

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

, 2023
Malformations of cortical development (MCD) are neurological conditions involving focal disruptions of cortical architecture and cellular organization that arise during embryogenesis, largely from somatic mosaic mutations, and cause intractable epilepsy.
Brain Somatic Mosaicism Network, Chung, Changuk, Gleeson, Joseph G.   +2 more
core   +1 more source