Results 51 to 60 of about 7,051 (240)

A high-density SNP array tailored for selectively bred Arctic charr (Salvelinus alpinus)

Aquaculture Reports
SNP arrays are indispensable tools for integrating genomic information into breeding programs. A SNP array for Nordic Arctic charr (Salvelinus alpinus) containing approximately 600,000 SNPs was developed from variants detected in Swedish, Norwegian and ...
Christos Palaiokostas, Martin Johnsson
doaj   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 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

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

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

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +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

Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics.

PLoS Genetics, 2009
This research investigates the influence of demographic factors on human genetic sub-structure. In our discovery cohort, we show significant demographic trends for decreasing autozygosity associated with population variation in chronological age ...
Michael A Nalls, Javier Simon-Sanchez, J Raphael Gibbs, Coro Paisan-Ruiz, Jose Tomas Bras, Toshiko Tanaka, Mar Matarin, Sonja Scholz, Charles Weitz, Tamara B Harris, Luigi Ferrucci, John Hardy, Andrew B Singleton   +12 more
doaj   +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