Results 131 to 140 of about 1,541,356 (256)

Human Chromosomes

, 2012
An interactive e-learning resource to explore Human Chromosomes and the consequences of changes in chromosome number to health and development.
Richard Flint
core  

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

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

Comparative cytogenetic study in Muscidae flies

Brazilian Journal of Biology
The chromosome modal number in Muscoidea Diptera is 2n = 12, including five pairs of autosomes and one sex chromosome pair. Nevertheless, some species with 2n = 10 chromosomes have been described, all of them from the Muscidae family.
PP. Parise-Maltempi, RMP. Avancini
doaj   +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

Characterization of sex chromosomes in three deeply diverged species of Pseudocrenilabrinae (Teleostei: Cichlidae)

, 2018
The African cichlid radiations have created thousands of new cichlid species with a wide diversity of trophic morphologies, behaviors, sensory systems, and pigment patterns.
Gammerdinger, William J., Kocher, Thomas D., Conte, Matthew A, Gammerdinger, William J, Sandkam, Benjamin A, Penman, David J, Conte, Matthew A., Sandkam, Benjamin A., Penman, David J., Kocher, Thomas D   +9 more
core   +1 more source

Female‐Specific Risk of TAS2R Variants in Chronic Rhinosinusitis: A Hospital‐Based Cohort Study From the Taiwan Precision Medicine Initiative

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Bitter taste receptors (T2Rs) function in the innate immune defense of the sinonasal mucosa; however, the genetic association between the TAS2R gene family and chronic rhinosinusitis (CRS) remains understudied in Asian populations.
Rong‐San Jiang, Man‐Wei Hua, I‐Chieh Chen, Yi‐Ming Chen, Shun‐Hung Lin, Kuan‐Yu Lai, Yi‐Chen Chen   +6 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

The fourspine stickleback (Apeltes quadracus) has an XY sex chromosome system with polymorphic inversions on both X and Y chromosomes.

PLoS Genetics
Teleost fish are well-known for possessing a diversity of sex chromosomes and for undergoing frequent turnovers of these sex chromosomes. However, previous studies have mainly focused on variation between species, while comparatively little attention has
Zuyao Liu, Amy L Herbert, Yingguang Frank Chan, Marek Kučka, David M Kingsley, Catherine L Peichel   +5 more
doaj   +1 more source