Results 141 to 150 of about 1,791,159 (252)

Whole-Genome Sequencing Dataset from Two High-Risk Breast Cancer Families Negative for BRCA1/2 and Other Known Susceptibility Genes

Data
Hereditary breast cancer (BC) remains unexplained in a substantial proportion of families who test negative for BRCA1/2 and other known susceptibility genes.
Silvia González-Martínez, Alejandra Rezqallah Arón, José Manuel Pérez-García, José Palacios, Belén Pérez-Mies, Javier Román, Laia Garrigos, Judith Balmaña, Daniela Camacho, Sandra Íñiguez-Muñoz, Diego M. Marzese, Javier Cortés   +11 more
doaj   +1 more source

TLR6 exonic SNV positions.

, 2017
Positions of the exonic SNVs rs5743809 and rs3522046 on the TLR6 protein diagrammed using NCBI Molecular Modeling database (MMDB). The replaced amino acids (p.Leu194Pro and p.Arg247Lys) are shown in green.
Narayanan Veeraraghavan (13928), Stephen F. Kingsmore (104189), Eric Levy (3713023), Chisato Shimizu (84989), Olivier Harismendy (239761), Hai Yang (1646371), Martin L. Hibberd (167212), Jane C. Burns (268128), Andre M. Ribeiro dos Santos (3713029), Long Truong Hoang (653872), Adriana H. Tremoulet (387274), Jay Flatley (3713026), Lucila Ohno-Machado (3907), Jihoon Kim (10090)   +13 more
core   +1 more source

Ethnobotanical and genetic assessments of Central American avocado landraces reveal novel sources of biodiversity and ancient migration patterns

PLANTS, PEOPLE, PLANET, EarlyView.
Avocados are a multibillion‐dollar global commodity, but their growing export market pressures local farmers to abandon local fruit tree diversity in favor of commercial cultivar production. Interviews with rural avocado farmers and households from the Southern Mexican Highlands, Pacific Coastal Honduras, and Western Nicaragua, as well as the genetic ...
Kevin Wann, Heather B. Thakar, Courtney A. Hofman, Hector Neff, Logan Kistler   +4 more
wiley   +1 more source

Russian wheat aphid: a model for genomic plasticity and a challenge to breeders

Insect Science, EarlyView.
Invasive foundress finds suitable habitat and reproduces through pathogenesis. Wingless females produce life offspring quickly, which leads to high population densities. High population densities result in competition, which may induce epigenetic changes and wing development for dispersal.
Astrid Jankielsohn, Vicky L. Tolmay, Marlon‐Schylor Luke le Roux, Lintle Mohase, Mpho S. Mafa, Vittorio F. Nicolis, Eduard Venter, Nicolaas Francois Visser Burger, Anna‐Maria Botha   +8 more
wiley   +1 more source

Exonic Deletions of FXN and Early-Onset Friedreich Ataxia.

, 2012
International audienceBACKGROUND: Friedreich ataxia (FA) is the most frequent type of autosomal recessive cerebellar ataxia, occurring at a mean age of 16 years. Nearly 98% of patients with FA present with homozygous GAA expansions in the FXN gene.
Koenig, Michel, Anheim, Mathieu, Brice, Alexis, Mariani, Louise-Laure, Calvas, Patrick, Delaunoy, Jean-Pierre, Marelli, Cecilia, Dürr, Alexandra, Seguela, Claire, Odent, Sylvie, Cheuret, Emmanuel, Fritsch, Marlène, Zagnoli, Fabien   +12 more
core   +1 more source

Early‐Onset Parkinson's Disease with 22q11.2 Microdeletion and Pathogenic GBA1 Variant

Movement Disorders Clinical Practice, EarlyView.
Nikolai Gil D. Reyes, Daniel G. Di Luca, Ivan Martinez‐Valbuena, Erik Boot, Maria Corral, Ryan K.C. Yuen, Connie Marras, Anthony E. Lang, Anne S. Bassett   +8 more
wiley   +1 more source

Comparisons Between Large‐Scale Genomic Variants and SNPs in Driving Population Divergence and Local Adaptation

Integrative Zoology, EarlyView.
Candidate genes identified from SNPs, indels, and SVs exhibited limited shared genes, suggesting that diverse variant types capture complementary aspects of the adaptive landscape. Our results underscore the importance of incorporating multiple types of genomic variation to achieve a more comprehensive understanding of evolutionary processes.
Qianghui Zhu, Hongrui Lv, Yalin Cheng, Shangyu Wang, Dezhi Zhang, Yan Hao, Gang Song, Fumin Lei   +7 more
wiley   +1 more source

First Whole Genome Sequencing Data of Six Greek Sheep Breeds

Data
Sheep farming is a common agricultural practice in Greece, with many sheep populations belonging to Greek breeds. However, their genetic makeup remains relatively unexplored and limited information is available for their genetic variability.
Antiopi Tsoureki, George Tsiolas, Maria Kyritsi, Eleftherios Pavlou, Anagnostis Argiriou, Sofia Michailidou   +5 more
doaj   +1 more source

Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To study the genetic risk factors of Fuchs endothelial corneal dystrophy (FECD) in the Finnish population using hospital‐based and large biobank cohorts. Methods We genotyped a cohort of 107 Finnish patients with FECD for the primary associated genetic risk factor, the TCF4 (CTG)>50 expansion, and studied their clinical phenotype.
Inka‐Tuulevi Vähämäki, Annamari T. Immonen, Joel T. Rämö, Aino M. Jaakkola, Kari Krootila, Maria Kaukonen, FinnGen, Aarno Palotie, Hannes Lohi, Tero T. Kivelä, Joni A. Turunen   +10 more
wiley   +1 more source

Elucidating PI3K/AKT/PTEN Pathway Alterations at Single‐Cell Level in CTCs From HR+/HER2− Metastatic Breast Cancer

Cancer Science, EarlyView.
Single CTC analysis revealed extensive inter‐ and intra‐patient heterogeneity of PI3K/AKT/PTEN pathway alterations in HR+/HER2− metastatic breast cancer, capturing both SNVs and CNAs, including PTEN loss‐of‐function events. Longitudinal CTC profiling also uncovered dynamic clonal evolution, highlighting its potential to complement tissue and ctDNA ...
Tania Rossi, Michela Palleschi, Caterina Gianni, Filippo Merloni, Alessandra Virga, Sara Bandini, Davide Angeli, Michela Tebaldi, Roberta Maltoni, Paola Ulivi, Antonino Musolino   +10 more
wiley   +1 more source