Results 31 to 40 of about 2,822,760 (305)

Interpreting the dependence of mutation rates on age and time [PDF]

, 2015
Mutations can arise from the chance misincorporation of nucleotides during DNA replication or from DNA lesions that are not repaired correctly. We introduce a model that relates the source of mutations to their accumulation with cell divisions, providing
Gao, Ziyue, Przeworski, Molly, Sella, Guy, Wyman, Minyoung J.   +3 more
core   +5 more sources

Comprendre l’instrumentation des questions de citoyenneté dans les politiques d’éducation et de jeunesse : une typologie des dispositifs d’action publique

Lien Social et Politiques, 2018
Que ce soit au niveau européen qu’au niveau national, les enjeux relatifs à la citoyenneté des jeunes sont présents dans les débats publics et donnent lieu à la mise en place de dispositifs spécifiques. L’ancienneté et la récurrence de la mise à l’agenda
Valérie Becquet
doaj   +1 more source

Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair [PDF]

, 2012
Microcephaly with early-onset, intractable seizures and developmental delay (MCSZ) is a hereditary disease caused by mutations in polynucleotide kinase/phosphatase (PNKP), a DNA strand break repair protein with DNA 5'-kinase and DNA 3'-phosphatase ...
Alexandra K. Walker, Beckman, Bernstein, Breslin, Breslin, Brodsky, Buck, Buck, Caldecott, Caldecott, Chappell, Christopher A. Walsh, Date, Dingwall, Dobson, Edward C. Gilmore, El-Khamisy, Evans, Garces, Hsiang, Interthal, John J. Reynolds, Karimi-Busheri, Keith W. Caldecott, Koch, Kouzminova, Kuzminov, Lee, Lindahl, Loizou, McCullough, Moreira, Riballo, Segal-Raz, Shen, Sprules, Takashima, Wang, Wang, Ward, Ward, Whitehouse   +41 more
core   +1 more source

Le rôle de l’espace dans le diagnostic et le traitement des “malaises sociaux”. Sur quelques implicites de la politique de la ville en France

Forum Sociológico, 2007
En France, l’action urbanistique qui vise certains quartiers de banlieues contient de nombreux présupposés qu’on retrouve dans des catégories, des classifications, des notions voire des slogans contribuant à la construction de la rhétorique d’aménagement
Gérard Baudin
doaj   +1 more source

Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. [PDF]

, 2017
PurposeMany women with an elevated risk of hereditary breast and ovarian cancer have previously tested negative for pathogenic mutations in BRCA1 and BRCA2. Among them, a subset has hereditary susceptibility to cancer and requires further testing.
Adams, Sophie B, Chan, Salina, Crawford, Beth, Gil, Elad, Leitner, Ofri, Ryan, Lauren, Sittler, Taylor, van 't Veer, Laura, van den Akker, Jeroen   +8 more
core   +1 more source

Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. [PDF]

, 1996
Autosomal recessive mutations in the 17 beta-hydroxysteroid dehydrogenase 3 gene impair the formation of testosterone in the fetal testis and give rise to genetic males with female external genitalia.
Andersson, Stefan, Blethen, Sandra L., Bloise, Walter, Cutler Jr., Gordon B., Davis, Daphne L., Geissler, Wayne M., Griffin, James E., Grumbach, Melvin M., Mendonca, Berenice B., New, Maria I., Russell, David D., Schwarz, Hans P., Wilson, Jean D., Witchel, Selma F., Wu, Ling   +14 more
core   +1 more source

Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification

Frontiers in Genetics, 2021
Primary familial brain calcification (PFBC) is a progressive neurological disorder manifesting as bilateral brain calcifications in CT scan with symptoms as parkinsonism, dystonia, ataxia, psychiatric symptoms, etc. Recently, pathogenic variants in MYORG
Yi-Heng Zeng, Bi-Wei Lin, Hui-Zhen Su, Xin-Xin Guo, Yun-Lu Li, Lu-Lu Lai, Wan-Jin Chen, Miao Zhao, Xiang-Ping Yao   +8 more
doaj   +1 more source

Characteristics and survival of patients with advanced cancer and p53 mutations. [PDF]

, 2014
P53 mutations are associated with invasive tumors in mouse models. We assessed the p53mutations and survival in patients with advanced cancer treated in the Phase I Program. Of 691 tested patients, 273 (39.5%) had p53 mutations.
Aldape, Kenneth, Fu, Siqing, Hess, Kenneth R, Hong, David S, Janku, Filip, Kurzrock, Razelle, Naing, Aung, Palmer, Gary A, Said, Rabih, Thomas, Christoforos, Tsimberidou, Apostolia M, Wheler, Jennifer J, Ye, Yang   +12 more
core   +4 more sources

Kit receptor tyrosine kinase dysregulations in feline splenic mast cell tumours [PDF]

, 2017
This study investigated Ki t receptor dysregulations (cytoplasmic immunohistochemical expression and/or c-KIT mutations) in cats a\ufb00ected with splenic mast cell tumours. Twenty-two cats were included.
Amagai, Arock, Carpenter, Columbo, Dank, Frost, Garner, Giantin, Hadzijusufovic, Hahn, Henry, Isotani, Isotani, Lanternier, Letard, Liska, Litster, London, London, Mallett, Marconato, Meininger, Rodriguez-Cariño, Sabattini, Sabattini, Sabattini, Spangler, Takanosu, Takeuchi, Webster, Webster, Webster, Zemke   +32 more
core   +1 more source

« Jeunes des quartiers difficiles » en service civique : du ciblage politique d’un public aux usages juvéniles

Lien Social et Politiques, 2013
Le service civique, créé par la Loi du 10 mars 2010, estun dispositif public d’incitation à l’engagement.S’adressant aux jeunes âgés de 16 à 25 ans,il leur propose de réaliser des missionsd’intérêt général pour unedurée de 6 à 12 mois en contrepartie d ...
Valérie Becquet
doaj   +1 more source