Results 61 to 70 of about 138,927 (255)
Dual Repression by IPA1 Fine‐Tunes OsbZIP79‐Mediated Salt Tolerance in Rice
Advanced Science, EarlyView.Dual repression by IPA1 fine‐tunes OsbZIP79‐mediated salt tolerance in rice: direct transcriptional inhibition under normal conditions and salt‐induced degradation under stress. This dual mechanism activates OsbZIP79 to regulate Na+/K+ homeostasis and redox balance via downstream genes, enabling optimal salt stress response.
Hui Wang +12 more
wiley +1 more source
American Journal of Botany, EarlyView.Abstract Premise The origin of endemic species in the European Alps is commonly attributed to the climatic oscillations of the Quaternary. Moehringia sect. Moehringia, with 12 of 15 species endemic to the Alps and mostly restricted to well‐known glacial refugia, is a prime system for investigating the diversification of a lineage originating in the ...
Joachim W. Kadereit +4 more
wiley +1 more source
American Journal of Hematology, EarlyView.ABSTRACT Although circulating nucleated red blood cells (cNRBCs) have previously been detected in patients with sickle cell disease (SCD), their prevalence and clinical significance during steady‐state disease have not been established. We retrospectively analyzed 270 adults with an SS or Sβ0‐thalassemia genotype.
Ugo Boccadifuoco +7 more
wiley +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang +16 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto +5 more
wiley +1 more source
Discovery of Single Nucleotide Polymorphisms in Complex Genomes Using SGSautoSNP
Biology, 2012 Single nucleotide polymorphisms (SNPs) are becoming the dominant form of molecular marker for genetic and genomic analysis. The advances in second generation DNA sequencing provide opportunities to identify very large numbers of SNPs in a range of ...
Jacqueline Batley +10 more
doaj +1 more source
Genetic Variation in ADHD‐Related Risk Genes in an Indigenous Population of the Amazon
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Attention‐Deficit/Hyperactivity Disorder (ADHD) is a highly heritable neurodevelopmental disorder; however, its genetic architecture remains poorly explored in Indigenous populations. This study aimed to analyze and characterize genetic variation in 11 genes (ADGRL3, CDH8, DCC, DUSP6, FOXP1, FOXP2, MEF2C, PCDH7, SEMA6D, SORCS3, and ST3GAL3 ...
Hirlesson Paixão de Matos +11 more
wiley +1 more source
Modeling Haplotype-Haplotype Interactions in Case-Control Genetic Association Studies
Frontiers in Genetics, 2012 Haplotype analysis has been increasingly used to study the genetic basis of human diseases, but models for characterizing genetic interactions between haplotypes from different chromosomal regions have not been well developed in the current literature ...
Li eZhang +4 more
doaj +1 more source
The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle +3 more
wiley +1 more source