Results 141 to 150 of about 2,151,922 (308)

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

American 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, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 more
wiley   +1 more source

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

American 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, Nina Adler, Cristina L. Abbatangelo, Mark Wade, Esteban J. Parra   +4 more
wiley   +1 more source

Paradigm shift in sex chromosome evolution

, 2019
Characterization of the sex determining system(s) of the Mexican tetra, Astyanax mexicanus.
Jouano, Elodie, Guiguen, Yann, Journot, Laurent, Feron, Romain, Parrinello, Hughes, Klopp, Christophe, Lopez-Roques, Celine, Parrinello, Hugues, Imarazene, Boudjema, Herpin, Amaury, Jouanno, Elodie, Perez, Julie, Beille, Séverine, Postlethwait, John H., Klopp, Christophe,, Rétaux, Sylvie, Schartl, Manfred, Veyrunes, Frédéric, Ettwiller, Laurence, Adolfi, Mateus C., Mourot, Brigitte, Roques, Céline, Lillesaar, Christina, Kraeussling, Michael, Porcon, Béatrice, Gobe, Clara, Schmidt, Cornelia, Kottler, Verena A., Montfort, Jérôme, Pailhoux, Eric, Santacruz Roco, Alvaro, Regensburger, Martina, Le Cam, Aurélie, Kneitz, Susanne, Dolle, Dirk, Kang, Du, Leibniz-Institut für Gewässerökologie und Binnenfischerei, Workshop: Paradigm Shift in Sex Chromosome Evolution (2019 : Berlin), Deutsche Forschungsgemeinschaft, Pannetier, Maelle, Stöck, Matthias, Kratochvíl, Lukáš   +41 more
core   +1 more source

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

American 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, Vishani Nimish Patel, McKenna Walsh, Erick Messias, Ping‐I Lin   +4 more
wiley   +1 more source

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

American 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, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

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

Annals 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, Kalliopi Mavromati, Lynne Hughes, Jonas S. Sundarakumar, Keeley Brookes, Kevin Morgan, Terry Quinn, Valentina Escott‐Price, the Alzheimer's Disease Neuroimaging Initiative   +8 more
wiley   +1 more source

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

Annals 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, Sven J. van der Lee, Eska Marye de Haan, Naren Ramesh, Sterre C.M. de Boer, Everard G.B. Vijverberg, Henne Holstege, Yolande A.L. Pijnenburg, Roel A. Ophoff, Lianne M. Reus   +9 more
wiley   +1 more source

Sex chromosomes and psychosis [PDF]

British Journal of Psychiatry, 1989
R S, Shiwach, M, Crocker
openaire   +2 more sources

Ontogeny of murine bony semicircular canal form

The 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, Nathan Jeffery   +1 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

The 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, Silvio Pires Gomes, Fabio Cesar Magioli Abdala, Bruno Cesar Schimming, Maria Angelica Miglino   +4 more
wiley   +1 more source