Results 71 to 80 of about 6,532,899 (237)

Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy

Frontiers in Neurology, 2021
Advances in next-generation sequencing (NGS) facilitate the diagnosis of genetic disorders. To evaluate its use for the molecular diagnosis of inherited optic neuropathy (ION), a blinding disease caused by the degeneration of retinal ganglion cells, we ...
Majida Charif, Majida Charif, Céline Bris, Céline Bris, David Goudenège, David Goudenège, Valérie Desquiret-Dumas, Valérie Desquiret-Dumas, Estelle Colin, Estelle Colin, Alban Ziegler, Alban Ziegler, Vincent Procaccio, Vincent Procaccio, Pascal Reynier, Pascal Reynier, Dominique Bonneau, Dominique Bonneau, Guy Lenaers, Patrizia Amati-Bonneau, Patrizia Amati-Bonneau   +20 more
doaj   +1 more source

A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

Nature Communications, 2015
Fanconi anaemia (FA) is a hereditary disease featuring hypersensitivity to DNA cross-linker-induced chromosomal instability in association with developmental abnormalities, bone marrow failure and a strong predisposition to cancer.
N. Ameziane, P. May, A. Haitjema, Henri J. van de Vrugt, S. V. van Rossum-Fikkert, D. Ristic, Gareth J. Williams, Jesper A. Balk, Davy A. P. Rockx, Hong Li, M. Rooimans, A. Oostra, E. Velleuer, R. Dietrich, Onno B. Bleijerveld, A. F. Maarten Altelaar, H. Meijers-Heijboer, H. Joenje, Gwênlyn Glusman, J. Roach, L. Hood, D. Galas, C. Wyman, R. Balling, J. D. den Dunnen, J. D. de Winter, R. Kanaar, R. Gelinas, J. Dorsman   +28 more
semanticscholar   +1 more source

A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats. [PDF]

, 2013
One of the salient features of the domestic cat is the aesthetics of its fur. The Selkirk Rex breed is defined by an autosomal dominant woolly rexoid hair (ADWH) abnormality that is characterized by tightly curled hair shafts.
Alhaddad, Hasan, Brem, Gottfried, Filler, Serina, Gandolfi, Barbara, Joslin, Shannon EK, Khan, Razib, Lyons, Leslie A   +6 more
core   +1 more source

Nucleolar dominance: a model for rRNA gene silencing [PDF]

Genes & Development, 2006
Research over the last decade has demonstrated that the regulated packaging of DNA into chromatin is fundamental to keeping genes in an active/open or a more condensed/inactive conformation. Nucleosomes, the basic repeating unit of chromatin, contain two molecules each of canonical histones, H2A, H2B, H3, and H4.
openaire   +3 more sources

Inheritance and Linkage of Virulence Genes in Chinese Predominant Race CYR32 of the Wheat Stripe Rust Pathogen Puccinia striiformis f. sp. tritici

Frontiers in Plant Science, 2018
Puccinia striiformis f.sp. tritici (Pst) is the causal agent of stripe (yellow) rust on wheat. It seriously threatens wheat production worldwide.
Long Wang, Dan Zheng, Shuxia Zuo, Xianming Chen, Xianming Chen, Hua Zhuang, Lili Huang, Zhensheng Kang, Zhensheng Kang, Jie Zhao   +9 more
doaj   +1 more source

Phenotypes controlled by the Brucella abortus two component system BvrR/BvrS are differentially impacted by BvrR phosphorylation

Frontiers in Microbiology, 2023
Brucella abortus is a zoonotic pathogen whose virulence depends on its ability to survive intracellularly at the endoplasmic reticulum derived compartment.
Pamela Altamirano-Silva, Jazmín Meza-Torres, Ana Mariel Zúñiga-Pereira, Sigrid Zamora-Jaen, Natalia Pietrosemoli, Gabriela Cantos, Johann Peltier, Johann Peltier, Javier Pizarro-Cerdá, Edgardo Moreno, Carlos Chacón-Díaz, Caterina Guzmán-Verri, Esteban Chaves-Olarte   +12 more
doaj   +1 more source

MRF4 negatively regulates adult skeletal muscle growth by repressing MEF2 activity [PDF]

, 2016
The myogenic regulatory factor MRF4 is highly expressed in adult skeletal muscle but its function is unknown. Here we show that Mrf4 knockdown in adult muscle induces hypertrophy and prevents denervation-induced atrophy.
Abraham, Reimar, Agatea, Lisa, Akimoto, Takayuki, Bicciato, Silvio, Blaauw, Bert, Calabria, Elisa, Carvajal, Jaime J., Ciciliot, Stefano, Dyar, Kenneth A., Forcato, Mattia, Moretti, Irene, Murgia, Marta, Pierre, Philippe, Rigby, Peter W. J., Schiaffino, Stefano, Uhlenhaut, N. Henriette   +15 more
core   +4 more sources

Bases genéticas de la herencia para características morfológicas, agronómicas y agro industriales en tomate hibrido Solanum lycopersicum L. (Mill.)

Journal of the Selva Andina Biosphere, 2013
In this research, 16 hybrids of tomato were evaluated under greenhouse and laboratory with the aim of estimating genetic variances, general combining ability (GCA) of male, specific combining ability (SCA) from each cross and the heritabilities for ...
Gabriel Julio, López Edy, Magne Jury, Angulo Ada, Luján Rubén, La Torre Jaime, Crespo Mario   +6 more
doaj  

The TIR-NB-LRR pair DSC1 and WRKY19 contributes to basal immunity of Arabidopsis to the root-knot nematode Meloidogyne incognita

BMC Plant Biology, 2020
Background Root-knot nematodes transform vascular host cells into permanent feeding structures to withdraw nutrients from the host plant. Ecotypes of Arabidopsis thaliana can display large quantitative variation in susceptibility to the root-knot ...
Sonja Warmerdam, Mark G. Sterken, Octavina C. A. Sukarta, Casper C. van Schaik, Marian E. P. Oortwijn, Jose L. Lozano-Torres, Jaap Bakker, Geert Smant, Aska Goverse   +8 more
doaj   +1 more source

Homozygosity mapping identified loci and candidate genes responsible for freezing tolerance in Camelina sativa

The Plant Genome, 2023
Homozygosity mapping is an effective tool for detecting genomic regions responsible for a given trait when the phenotype is controlled by a limited number of dominant or co‐dominant loci. Freezing tolerance is a major attribute in agricultural crops such
TM Shaikh, Mukhlesur Rahman, Timothy Smith, James V. Anderson, Wun S. Chao, David P. Horvath   +5 more
doaj   +1 more source