Results 141 to 150 of about 4,675,098 (246)

Independent evolution of satellite DNA sequences in homologous sex chromosomes of Neotropical armored catfish (Harttia)

open access: yesCommunications Biology
The Neotropical armored catfish Harttia is a valuable model for studying sex chromosome evolution, featuring two independently evolved male-heterogametic systems.
Francisco de M. C. Sassi   +8 more
doaj   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr   +7 more
wiley   +1 more source

Genetic Resilience and Resistance in Alzheimer's Disease Diagnosis and Pathology

open access: yesAnnals of Neurology, EarlyView.
Objective Some individuals avoid Alzheimer's disease (AD) pathology as they age, or retain cognition despite substantial pathology, suggesting mechanisms of resistance or resilience to neurodegeneration. Educational attainment (EA) is associated with reduced risk of cognitive decline, although the underlying mechanisms remain unclear.
Ganna Leonenko   +8 more
wiley   +1 more source

Sex Chromosome Turnovers in Evolution

open access: yes, 2019
International audienceAnimals and plants display a remarkable diversity in the way they determine sex. This implies that changes in the mode of sex determination occur over evolutionary time.
Saunders, Paul, A, Paul A Saunders
core   +1 more source

Accelerated Epigenetic Aging in Frontotemporal Dementia Highlights Smoking, Inflammation, and Metabolic Signals

open access: yesAnnals of Neurology, EarlyView.
Objective Epigenetic clocks are biomarkers of biological aging influenced by lifestyle and systemic factors. Accelerated epigenetic aging has been associated with neurodegeneration, but its relevance in frontotemporal dementia is unclear. We investigated biological aging in frontotemporal dementia using the GrimAge2 epigenetic clock, a DNA methylation ...
Daphne Nijland   +9 more
wiley   +1 more source

Allelic variation and duplication of the dmrt1 were associated with sex chromosome turnover in three representative Scatophagidae fish species

open access: yesCommunications Biology
Fish species of the family Scatophagidae possessing known candidate sex-determining genes (male-specific dmrt1Ys), offer suitable models for studying sex chromosome evolution.
Yuan-Qing Huang   +16 more
doaj   +1 more source

Ontogeny of murine bony semicircular canal form

open access: yesThe Anatomical Record, EarlyView.
Abstract The labyrinthine geometry and functional anatomy of the semicircular canals have intrigued scientists for decades, and there has been considerable interest in understanding how these complex structures grow and develop with evidence emerging from human studies that size maturation occurs exceptionally early by comparison with other systems ...
Marcela Cárdenas‐Serna   +1 more
wiley   +1 more source

Proteogenomic characterization of cholangiocarcinoma

open access: yesHepatology, EarlyView., 2022
Proteogenomic characterization of cholangiocarcinoma with therapeutic strategies Abstract Background and Aims Cholangiocarcinoma (CCA) is a highly heterogeneous cancer with limited understanding and few effective therapeutic approaches. We aimed at providing a proteogenomic CCA characterization to inform biological processes and treatment ...
Mengjie Deng   +18 more
wiley   +1 more source

Determining the timeline of gonadal and genital differentiation in male and female equine fetuses allows for early detection and intervention in malformations

open access: yesThe Anatomical Record, EarlyView.
Abstract Sexual differentiation in the equine fetus involves coordinated morphogenetic processes that shape both the gonads and the genital ducts. Although the formation of testes and ovaries has been relatively well documented, the temporal dynamics and morphometric patterns of the mesonephric (Wolffian) and paramesonephric (Müllerian) ducts remain ...
Tais Harumi de Castro Sasahara   +4 more
wiley   +1 more source

Unique sex chromosome translocations and evolutionary strata in two Sylvioidea songbird families

open access: yesBMC Genomics
Avian genomes are typically stable, yet instances of chromosome fissions, fusions and translocations are known across various lineages. For example, multiple sex chromosome translocations have been described in the superfamily Sylvioidea.
Thomas J. Brown   +5 more
doaj   +1 more source

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