Results 31 to 40 of about 4,297,778 (372)

Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia [PDF]

, 2015
Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a difficult-to-diagnose cause of sudden cardiac death (SCD). We identified a family of 1400 individuals with multiple cases of CPVT, including 36 SCDs during youth.
Allegue, Catarina, Beltran-Alvarez, Pedro, Berne, Paola, Bosch Calero, Cristina, Brugada, Josep, Brugada, Ramon, Campuzano, Oscar, Iglesias, Anna, Pérez, Carmelo, Pérez, Guillermo J., Ruiz Hernandez, Pablo M., Scornik, Fabiana S., Wangüemert, Fernando   +12 more
core   +2 more sources

Potent dual block to HIV-1 infection using lentiviral vectors expressing fusion inhibitor peptide mC46- and Vif-resistant APOBEC3G

Molecular Therapy: Nucleic Acids, 2023
Gene therapy strategies that effectively inhibit HIV-1 replication are needed to reduce the requirement for lifelong antiviral therapy and potentially achieve a functional cure.
Krista A. Delviks-Frankenberry, Chet R. Ojha, Kip J. Hermann, Wei-Shau Hu, Bruce E. Torbett, Vinay K. Pathak   +5 more
doaj   +1 more source

Mutation Spectra and the Neutrality of Mutations [PDF]

Australian Journal of Biological Sciences, 1974
The effect of amino acid replacements on enzyme function was studied in the tJ-galactosidase of Escherichia coli. Mutants possessing 50% or less of normal enzyme activity were isolated and examined. Of 733 amino acid substitutions calculated to have occurred, only 11 reduced tJ-galactosidase activity below 50 %.
openaire   +3 more sources

Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation [PDF]

, 2016
Background: Breast cancer risk increases drastically in individuals carrying a germline BRCA1 mutation. The exposure to ionizing radiation for diagnostic or therapeutic purposes of BRCA1 mutation carriers is counterintuitive, since BRCA1 is active in the
A Pijpe, A Vral, Anne Vral, Annelot Baert, B Ernestos, Bruce Poppe, D Goldfrank, E Febrer, EKJ Pauwels, EM John, F Cardinale, FJ Couch, Fransiska Malfait, G Sioftanos, GE Pantelias, Gianpaolo Perletti, GJ Heyes, H Nikjoo, I Cousineau, IM Obdeijn, J Barwell, J Depuydt, J Gronwald, J Lecarpentier, JC Drooger, JC Théry, Jenneke van den Ende, JL Bernheim, JM Hair, Julie Depuydt, K Claes, K Claes, K Claes, K Leeneer De, Kathleen B. M. Claes, Katrien Storm, KE Rieger, Kim De Leeneer, KW Caestecker, L Perrin-Vidoz, L Salmena, M Frankenberg-Schwager, M Sedic, ME Dextraze, MS Sasaki, N Andrieu, N Foray, N Li, O Anczuków, O Popanda, P Pfeiffer, P Willems, R Roy, RI Yarden, RJ Linger, S Gutiérrez-Enríquez, S Pathania, SA Narod, Sylvia De Nobele, T Vaclová, TA Buchholz, Tim Van Damme, Tom Van Maerken, U Hagen, V Giannakeas, WD Foulkes, Z Guo, Z Kote-Jarai   +67 more
core   +4 more sources

The architecture of clonal expansions in morphologically normal tissue from cancerous and non-cancerous prostates

Molecular Cancer, 2022
Background Up to 80% of cases of prostate cancer present with multifocal independent tumour lesions leading to the concept of a field effect present in the normal prostate predisposing to cancer development.
Claudia Buhigas, Anne Y. Warren, Wing-Kit Leung, Hayley C. Whitaker, Hayley J. Luxton, Steve Hawkins, Jonathan Kay, Adam Butler, Yaobo Xu, Dan J. Woodcock, Sue Merson, Fiona M. Frame, Atef Sahli, Federico Abascal, CRUK-ICGC Prostate Cancer Group, Iñigo Martincorena, G. Steven Bova, Christopher S. Foster, Peter Campbell, Norman J. Maitland, David E. Neal, Charlie E. Massie, Andy G. Lynch, Rosalind A. Eeles, Colin S. Cooper, David C. Wedge, Daniel S. Brewer   +26 more
doaj   +1 more source

Silting mutation in triangulated categories

, 2011
In representation theory of algebras the notion of `mutation' often plays important roles, and two cases are well known, i.e. `cluster tilting mutation' and `exceptional mutation'.
Aihara, Takuma, Iyama, Osamu
core   +1 more source

ID3 regulates the MDC1-mediated DNA damage response in order to maintain genome stability

Nature Communications, 2017
MDC1 is a key component of the DNA damage response and interacts with several factors such as γ-H2AX. Here the authors show that MDC1 interacts with ID3, facilitating MDC1 recruitment to sites of damage and repair of breaks.
Jung-Hee Lee, Seon-Joo Park, Gurusamy Hariharasudhan, Min-Ji Kim, Sung Mi Jung, Seo-Yeon Jeong, In-Youb Chang, Cheolhee Kim, Eunae Kim, Jihyeon Yu, Sangsu Bae, Ho Jin You   +11 more
doaj   +1 more source

Echec des élites et régressions économiques de Madagascar [PDF]

Mouvements et Enjeux Sociaux, 2022
Madagascar est le seul pays dans le monde où le PIB par tête n’a cessé de régresser depuis l’indépendance. Une situation qui est à la fois préoccupante et étonnante pour les chercheurs, observateurs et experts de différentes disciplines.
Jean Angelson RANDRIAMBOAVONJY
doaj  

RAS mutation status predicts survival and patterns of recurrence in patients undergoing hepatectomy for colorectal liver metastases. [PDF]

, 2013
ObjectiveTo determine the impact of RAS mutation status on survival and patterns of recurrence in patients undergoing curative resection of colorectal liver metastases (CLM) after preoperative modern chemotherapy.BackgroundRAS mutation has been reported ...
Aloia, Thomas A, Andreou, Andreas, Chen, Su S, Curley, Steven A, Kopetz, Scott E, Maru, Dipen M, Shindoh, Junichi, Vauthey, Jean-Nicolas, Zimmitti, Giuseppe   +8 more
core   +1 more source

Abstention électorale à Madagascar : entre déficit civique et défaillance de la classe politique [PDF]

Mouvements et Enjeux Sociaux, 2022
Longtemps ignorée par les chercheurs en sciences sociales, l’abstention électorale devient une des problématiques majeures de la démocratie représentative en ce moment. Tel est également le cas pour Madagascar.
Jean Angelson RANDRIAMBOAVONJY
doaj