Results 131 to 140 of about 4,675,098 (246)

High‐Quality Annotated ZZ Male Genome Assembly of Eulimnadia texana

open access: yesEcology and Evolution
In many animals, sexual differences are predominantly determined by sex chromosomes and therefore understanding the underlying evolutionary mechanisms that affect these chromosomes is crucial.
Chathumadavi Ediriweera   +1 more
doaj   +1 more source

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik   +10 more
wiley   +1 more source

A Precision‐Delivered Singlet Oxygen Generator With an Inbuilt Safety Switch for Induction of Pancreatic Beta Cell Stress and Death

open access: yesAngewandte Chemie, EarlyView.
ROXendin668 is a peptidic GLP‐1 receptor agonist that generates toxic singlet oxygen upon irradiation with far‐red light. Pancreatic beta cells can be photo‐ablated in a spatiotemporally controlled manner. This approach has the potential to provide a safer alternative to streptozotocin or alloxan for creating model systems for type 1 diabetes research.
Kilian Roßmann   +17 more
wiley   +2 more sources

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha   +6 more
wiley   +1 more source

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud   +6 more
wiley   +1 more source

Shared Origin of Y and Z Chromosomes in the Turnover of XY and ZW Systems in the Frog Glandirana rugosa

open access: yesBiomolecules
The Japanese frog Glandirana rugosa, endemic to Japan, exhibits both XY and ZW sex determination systems in different populations, representing a rare example of sex chromosome turnover within a single species.
Yukako Katsura   +5 more
doaj   +1 more source

Exploring Genetic and Biological Interconnections Between Neuroticism, Psychological Distress, Insomnia, and C‐Reactive Protein: Insights From the UK Biobank

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Psychobehavioral and physical health traits often co‐occur. Although previous studies have identified associations between neuroticism, psychological distress, insomnia, and inflammatory biomarkers such as C‐reactive protein (CRP), it remains unclear whether there is a genetic basis to these associations, and which biological pathways are ...
Lydia M Li   +4 more
wiley   +1 more source

Whole-genome resequencing reveals chromosomal fusion-driven early stages of XY chromosomes evolution in the darkbarbel catfish (Tachysurus vachellii)

open access: yesFrontiers in Zoology
This study investigates the early stages of putative sex chromosome evolution in the darkbarbel catfish (Tachysurus vachellii) through whole-genome resequencing of 31 individuals.
Jianjun Liu   +6 more
doaj   +1 more source

Homology in Sex Determination in Two Distant Spiny Frogs, Nanorana quadranus and Quasipaa yei

open access: yesAnimals
Sex determination is remarkably diverse, with frequent transitions between sex chromosomes, in amphibians. Under these transitions, some chromosomes are more likely to be recurrently co-opted as sex chromosomes, as they are often observed across deeply ...
Yu Xiao   +4 more
doaj   +1 more source

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio   +4 more
wiley   +1 more source

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