Results 21 to 30 of about 1,061,050 (301)

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.
Tatton-Brown, Katrina, Hanks, Sandra, Temple, I. Karen, Ruark, Elise, et al., Cole, Trevor, Douglas, Jenny, Loveday, C, Patton, Michael, Ruark, E, Murray, A, Ramsay, Emma, Seal, Sheila, Ramsay, E, Taylor, C, Zachariou, A, Temple, KI, Loveday, Chey, Tatton-Brown, K, Patton, M, Duarte, SDELV, Seal, S, Douglas, J, Raith, W, Clericuzio, Carol, Magee, A, Flinter, F, ?, ?, Splitt, Miranda, Banka, S, Rahman, N, Strenger, V, Flinter, Frances, Rankin, Julia, Snape, Katie, Zachariou, Anna, Temple, Karen I, Murray, Anne, Splitt, M, Wheeler, P, Magee, Alex, Childhood Overgrowth Collaboration, Strenger, Volker, Perdeaux, Elizabeth R, McConnell, Vivienne, Banka, Siddharth, Clericuzio, C, Wheeler, Patricia, McConnell, V, Perdeaux, ER, Cole, T, Taylor, Clare, Snape, K, Raith, Wolfgang, Rahman, Nazneen, Duarte, Silvana Del Vecchio, Hanks, S, Rankin, J   +57 more
core   +1 more source

SOMATIC MUTATIONS IN SUNFLOWERS [PDF]

Journal of Heredity, 1917
n ...
openaire   +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   +2 more sources

Oxidative stress is not a major contributor to somatic mitochondrial DNA mutations.

PLoS Genetics, 2014
The accumulation of somatic mitochondrial DNA (mtDNA) mutations is implicated in aging and common diseases of the elderly, including cancer and neurodegenerative disease. However, the mechanisms that influence the frequency of somatic mtDNA mutations are
Leslie S Itsara, Scott R Kennedy, Edward J Fox, Selina Yu, Joshua J Hewitt, Monica Sanchez-Contreras, Fernando Cardozo-Pelaez, Leo J Pallanck   +7 more
doaj   +1 more source

Confidence-based somatic mutation evaluation and prioritization.

PLoS Computational Biology, 2012
Next generation sequencing (NGS) has enabled high throughput discovery of somatic mutations. Detection depends on experimental design, lab platforms, parameters and analysis algorithms.
Martin Löwer, Bernhard Y Renard, Jos de Graaf, Meike Wagner, Claudia Paret, Christoph Kneip, Ozlem Türeci, Mustafa Diken, Cedrik Britten, Sebastian Kreiter, Michael Koslowski, John C Castle, Ugur Sahin   +12 more
doaj   +1 more source

Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations [PDF]

, 2014
Two megalencephaly (MEG) syndromes, megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyriapolydactyly?-hydrocephalus(MPPH), have recently been defined on the basis of physical and neuroimaging features.
Cross, Nicholas C. P., Hidalgo-Curtis, Claire, Claire Hidalgo-Curtis (518402), Score, Joannah, Gibson, Jane, Sarah Ennis, Jane Gibson, I Karen Temple, Andrew Collins, Andrew Collins (63814), Nicola Foulds, Paula Aranaz (518400), Foulds, Nicola, Claire Hidalgo-Curtis, I. Karen Temple (518404), Sarah Ennis (435142), David O. Robinson (518403), Temple, I. Karen, William J Tapper, Paula Aranaz, Collins, Andrew, Joannah Score, Nicola Foulds (518399), Joannah Score (518401), Tapper, William J., Robinson, David O., William J. Tapper (518398), Ennis, Sarah, David O Robinson, Aranaz, Paula, Nicholas C P Cross, Jane Gibson (497328), Nicholas C. P. Cross (185184)   +32 more
core   +1 more source

Somatic Mutations in Fruit Trees: Causes, Detection Methods, and Molecular Mechanisms

Plants, 2023
Somatic mutations are genetic changes that occur in non-reproductive cells. In fruit trees, such as apple, grape, orange, and peach, somatic mutations are typically observed as “bud sports” that remain stable during vegetative propagation.
Seunghyun Ban, Je Hyeong Jung
doaj   +1 more source

Germline and somatic mtDNA mutations in mouse aging. [PDF]

PLoS ONE, 2018
The accumulation of acquired mitochondrial genome (mtDNA) mutations with aging in somatic cells has been implicated in mitochondrial dysfunction and linked to age-onset diseases in humans.
Hong Ma, Yeonmi Lee, Tomonari Hayama, Crystal Van Dyken, Nuria Marti-Gutierrez, Ying Li, Riffat Ahmed, Amy Koski, Eunju Kang, Hayley Darby, Thanasup Gonmanee, Younjung Park, Don P Wolf, Chong Jai Kim, Shoukhrat Mitalipov   +14 more
doaj   +1 more source