Results 101 to 110 of about 241,454 (288)

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

Quantitative Genetic Mapping and Genome Assembly in the Lesser Wax Moth Achroia grisella

G3: Genes, Genomes, Genetics, 2019
Specific characteristics of the male Achroia grisella acoustic mating signal determine a male’s attractiveness toward females. These features are genetically variable in populations, and mapping experiments have been used to identify loci contributing to
Boryana S. Koseva, Jennifer L. Hackett, Yihong Zhou, Bethany R. Harris, John K. Kelly, Michael D. Greenfield, Jennifer M. Gleason, Stuart J. Macdonald   +7 more
doaj   +1 more source

Genomic Selection in Wheat Breeding using Genotyping‐by‐Sequencing

The Plant Genome, 2012
Genomic selection (GS) uses genomewide molecular markers to predict breeding values and make selections of individuals or breeding lines prior to phenotyping. Here we show that genotyping‐by‐sequencing (GBS) can be used for de novo genotyping of breeding panels and to develop accurate GS models, even for the large, complex, and ...
Poland, Jesse A., Endelman, Jeffrey, Dawson, Julie, Rutkoski, Jessica, Wu, Shuangye, Manes, Yann, Dreisigacker, Susanne, Crossa, José, Sánchez-Villeda, Héctor, Sorrells, Mark, Jannink, Jean-Luc   +10 more
openaire   +3 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

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

HLA genotyping by next-generation sequencing of complementary DNA

BMC Genomics, 2017
Background Genotyping of the human leucocyte antigen (HLA) is indispensable for various medical treatments. However, unambiguous genotyping is technically challenging due to high polymorphism of the corresponding genomic region.
Hidenobu Segawa, Yoji Kukita, Kikuya Kato   +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

Population genetics and phylogeographic history of the insular lizard Podarcis lilfordi (Gunther, 1874) from the Balearic Islands based on genome‐wide polymorphic data

Ecology and Evolution
Islands provide a great system to explore the processes that maintain genetic diversity and promote local adaptation. We explored the genomic diversity of the Balearic lizard Podarcis lilfordi, an endemic species characterized by numerous small insular ...
Katherin Otalora, Joan Lluís Riera, Giacomo Tavecchia, Andreu Rotger, José Manuel Igual, Jean‐Remi Paul Trotta, Laura Baldo   +6 more
doaj   +1 more source

Improving genomic predictions by correction of genotypes from genotyping by sequencing in livestock populations

Journal of Animal Science and Biotechnology, 2019
Background Genotyping by sequencing (GBS) is a robust method to genotype markers. Many factors can influence the genotyping quality. One is that heterozygous genotypes could be wrongly genotyped as homozygotes, dependent on the genotyping depths. In this
Xiao Wang, Mogens Sandø Lund, Peipei Ma, Luc Janss, Haja N. Kadarmideen, Guosheng Su   +5 more
doaj   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source