Results 71 to 80 of about 8,739 (269)

Characterization of runs of homozygosity and heterozygosity-rich regions in a commercial turkey (Meleagris gallopavo) population. [PDF]

, 2018
Runs of homozygosity have been used for genomic characterization and inbreeding estimation, or to detect selective signatures in the genome of mammal and avian species.
Marras, G., Malchiodi, F., Baes, C.F., Biscarini, F., van As, P., Peeters, K., Wood, B.J., Makanjuola, B.   +7 more
core  

Genomic dissection of inbreeding depression: a gate to new opportunities

Revista Brasileira de Zootecnia
Inbreeding depression, reduction in performance of quantitative traits, including reproduction and survival, caused by inbreeding, is a well-known phenomenon observed in almost all experimental, domesticated, and natural populations.
Ino Curik, Maja Ferenčaković, Johann Sölkner   +2 more
doaj   +1 more source

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

Genome-Wide Analyses Reveal the Genetic Architecture and Candidate Genes of Indicine, Taurine, Synthetic Crossbreds, and Locally Adapted Cattle in Brazil

Frontiers in Genetics, 2021
Cattle population history, breeding systems, and geographic subdivision may be reflected in runs of homozygosity (ROH), effective population size (Ne), and linkage disequilibrium (LD) patterns.
Lucas Lima Verardo, Fabyano Fonseca e Silva, Marco Antonio Machado, João Cláudio do Carmo Panetto, Daniele Ribeiro de Lima Reis Faza, Pamela Itajara Otto, Luciana Correia de Almeida Regitano, Luiz Otávio Campos da Silva, Andréa Alves do Egito, Maria do Socorro Maués Albuquerque, Ricardo Zanella, Marcos Vinicius Gualberto Barbosa da Silva   +11 more
doaj   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

A recessive genetic model and runs of homozygosity in major depressive disorder [PDF]

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2014
Genome‐wide association studies (GWASs) of major depressive disorder (MDD) have yet to identify variants that surpass the threshold for genome‐wide significance. A recent study reported that runs of homozygosity (ROH) are associated with schizophrenia, reflecting a novel genetic risk factor resulting from increased parental relatedness and recessive ...
R.A. Power, M.C. Keller, S. Ripke, A. Abdellaoui, N.R. Wray, P.F. Sullivan, MDD PGC Working Group, D.I. Boomsma, E.J.C. de Geus, J.J. Hottenga, C.M. Middeldorp, B.W.J.H. Penninx, G. Willemsen and G. Breen   +12 more
openaire   +6 more sources

Number of runs of homozygosity (ROH) shared between individuals per chromosome of commercial maternal line. [PDF]

, 2019
Number of runs of homozygosity (ROH) shared between individuals per chromosome of commercial maternal line.
Mônica Correa Ledur (6411758), Tatiane Cristina Seleguim Chud (3737704), Mauricio Egidio Cantão (6411752), Marcos Eli Buzanskas (3737701), Jane Oliveira Peixoto (6411755), Jorge Augusto Petroli Marchesi (6411749), Letícia Borges Joaquim (6411746), Danísio Prado Munari (790340), Ricardo Zanella (179792), Renato Irgang (4747881), Rodrigo Pelicioni Savegnago (790334)   +10 more
core   +1 more source

Runs of homozygosity reveal past bottlenecks and contemporary inbreeding across diverging populations of an island-colonizing bird [PDF]

, 2023
Genomes retain evidence of the demographic history and evolutionary forces that have shaped populations and drive speciation. Across island systems, contemporary patterns of genetic diversity reflect population demography, including colonization events ...
Martin, Claudia A., Lewis G. Spurgin, Spurgin, L. G., Sheppard, Eleanor C., Martin, C. A., Martin, Claudia, David S. Richardson, Spurgin, Lewis G., Illera, Juan Carlos,, Illera Cobo, Juan Carlos, Suh, Alexander, Sheppard, Eleanor, Alexander Suh, Spurgin, Lewis G.,, Claudia A. Martin, Richardson, David S., Suh, Alexander,, Nadachowska Brzyska, K., Richardson, David, Spurgin, Lewis, Sheppard, E. C., Illera, Juan Carlos, Sheppard, Eleanor C.,, Nadachowska-Brzyska, Krystyna,, Nadachowska-Brzyska, Krystyna, Juan Carlos Illera, Richardson, D. S., Martin, Claudia A.,, Richardson, David S.,, Eleanor C. Sheppard, Krystyna Nadachowska‐Brzyska, Suh, A.   +31 more
core   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Parental relatedness through time revealed by runs of homozygosity in ancient DNA [PDF]

, 2021
Parental relatedness of present-day humans varies substantially across the globe, but little is known about the past. Here we analyze ancient DNA, leveraging that parental relatedness leaves genomic traces in the form of runs of homozygosity.
Novembre, J., Ringbauer, H. ; https://orcid.org/, Steinrücken, M.   +2 more
core   +1 more source