Results 31 to 40 of about 233,128 (302)

Somatic genetic alterations predict hematological progression in GATA2 deficiency

Haematologica, 2023
Germline GATA2 mutations predispose to myeloid malignancies resulting from the progressive acquisition of additional somatic mutations. Here we describe clinical and biological features of 78 GATA2-deficient patients.
Laetitia Largeaud, Matthew Collin, Nils Monselet, Francois Vergez, Vincent Fregona, Lise Larcher, Pierre Hirsch, Nicolas Duployez, Audrey Bidet, Isabelle Luquet, Jacinta Bustamante, Stephanie Dufrechou, Nais Prade, Marie Nolla, Camille Hamelle, Suzanne Tavitian, Christophe Habib, Mateo Meynier, Christine Bellanne-Chantelot, Jean Donadieu, Flore Sicre de Fontbrune, Claire Fieschi, Alina Ferster, Francois Delhommeau, Eric Delabesse, Marlene Pasquet   +25 more
doaj   +1 more source

A critical reassessment of the role of mitochondria in tumorigenesis [PDF]

, 2005
<p><b>Background:</b> Mitochondrial DNA (mtDNA) is being analyzed by an increasing number of laboratories in order to investigate its potential role as an active marker of tumorigenesis in various types of cancer.
Bandelt, H.J., Carracedo Ángel, Salas Ellacuriaga, Antonio, Carracedo, A., Salas Antonio, Bandelt, Hans-Jürgen, Salas, A., Vega, A., Vincent Macaulay, Yao, Y.G., Vega Gliemmo, Ana Paula, Macaulay Vincent, Yao, Yong-Gang, Macaulay, Vincent, Macaulay, V., Hans-Jürgen Bandelt, Yong-Gang Yao, Yao Yong-Gang, Angel Carracedo, Vega Ana, Bandelt Hans-Jürgen, Ana Vega, Antonio Salas, Carracedo Álvarez, Ángel   +23 more
core   +1 more source

Age-related somatic mutation burden in human tissues

Frontiers in Aging, 2022
The genome of multicellular organisms carries the hereditary information necessary for the development of all organs and tissues and to maintain function in adulthood.
Peijun Ren, Xiao Dong, Jan Vijg, Jan Vijg   +3 more
doaj   +1 more source

A pathway-centric survey of somatic mutations in Chinese patients with colorectal carcinomas.

PLoS ONE, 2015
Previous genetic studies on colorectal carcinomas (CRC) have identified multiple somatic mutations in four candidate pathways (TGF-β, Wnt, P53 and RTK-RAS pathways) on populations of European ancestry.
Chao Ling, Lin Wang, Zheng Wang, Luming Xu, Lifang Sun, Hui Yang, Wei-Dong Li, Kai Wang   +7 more
doaj   +1 more source

Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability

, 2022
We analyzed 131 human brains (44 neurotypical, 19 with Tourette syndrome, 9 with schizophrenia, and 59 with autism) for somatic mutations after whole genome sequencing to a depth of more than 200x.
Roberts, Rosalinda C., Walsh, Christopher A., Jang, Yeongjun, Chahine, Yasmine, Wu, Feinan, Panda, Arijit, Jourdon, Alexandre, Huttner, Anita, Hyde, Thomas M., Bae, Taejeong, Yeh, Rebecca, Straub, Richard E., Mariani, Jessica, Vaccarino, Flora M., Suvakov, Milovan, Dias, Caroline, Chung, Changuk, Urban, Alexander E., Norton, Scott, Kleinman, Joel E., Shin, Joo Heon, Fasching, Liana, Network, Brain Somatic Mosaicism, Abyzov, Alexej, Leckman, James F., Pattni, Reenal, Wang, Yifan, Weinberger, Daniel R.   +27 more
core   +1 more source

Uncovering the profile of somatic mtDNA mutations in Chinese colorectal cancer patients. [PDF]

PLoS ONE, 2011
In the past decade, a high incidence of somatic mitochondrial DNA (mtDNA) mutations has been observed, mostly based on a fraction of the molecule, in various cancerous tissues; nevertheless, some of them were queried due to problems in data quality ...
Cheng-Ye Wang, Hui Li, Xiao-Dan Hao, Jia Liu, Jia-Xin Wang, Wen-Zhi Wang, Qing-Peng Kong, Ya-Ping Zhang   +7 more
doaj   +1 more source

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability [PDF]

, 2014
Overgrowth disorders are a heterogeneous group of conditions characterized by increased growth parameters and other variable clinical features such as intellectual disability and facial dysmorphism1.
Baralle, Diana, Tatton-Brown, Katrina, Silvana del Vecchio Duarte, Katrina Tatton-Brown, Sheila Seal, Jenny Harmer, Dabir, Tabib, Diana Baralle, Seal, Sheila, Ramsay, Emma, Robert van Montfort, Goudie, David, Lise Aksglaede, Van Maldergem, Lionel, Selicorni, Angelo, Yachelevich, Naomi, Ajith Kumar, Pilz, Daniela T, Temple, I. Karen, Blanca Gener, Eleanor O'Brien, Zachariou, Anna, Aksglaede, Lise, Angelo Selicorni, Anna Zachariou, David Goudie, Temple, Karen I., Lionel Van Maldergem, Nazneen Rahman, Elise Ruark, del Vecchio Duarte, Silvana, Kumar, Ajith, Harmer, Jenny, I Karen Temple, Gener, Blanca, van Montfort, Robert, Sandra Hanks, Pilz, Daniela T., Hanks, Sandra, Temple, I Karen, Tessa Homfray, Tabib Dabir, O'Brien, Eleanor, Emma Ramsay, Ruark, Elise, Homfray, Tessa, Daniela T Pilz, Rahman, Nazneen, Naomi Yachelevich   +48 more
core   +1 more source

The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing

, 2021
We characterize the landscape of somatic mutations-mutations occurring after fertilization-in the human brain using ultra-deep (~250×) whole-genome sequencing of prefrontal cortex from 59 donors with autism spectrum disorder (ASD) and 15 control donors ...
Walsh, Christopher A., Brain Somatic Mosaicism Network, Rodin, Rachel E.   +2 more
core   +1 more source

Inheritance of somatic mutations by animal offspring [PDF]

, 2022
Since 1892, it has been widely assumed that somatic mutations are evolutionarily irrelevant in animals because they cannot be inherited by offspring. However, some nonbilaterians segregate the soma and germline late in development or never, leaving the ...
Vasquez Kuntz, K.L., Marhaver, K.L., Vermeij, M.J.A.; id_orcid, Vohsen, S.A., Baums, I.B., Kitchen, S.A., Chan, A.N., Conn, T.L., Vermeij, M.J.A., Page, C.   +9 more
core   +1 more source

Whole Exome Sequencing of Growing and Non-Growing Cutaneous Neurofibromas from a Single Patient with Neurofibromatosis Type 1. [PDF]

PLoS ONE, 2017
The growth behaviors of cutaneous neurofibromas in patients with Neurofibromatosis type 1 are highly variable. The role of the germline NF1 mutation, somatic NF1 mutation and mutations at modifying loci, are poorly understood.
Daniel L Faden, Saurabh Asthana, Tarik Tihan, Joseph DeRisi, Michel Kliot   +4 more
doaj   +1 more source