Results 141 to 150 of about 54,392 (259)
Pediatric Dermatology, EarlyView.ABSTRACT Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disorder characterized by pruritic, erythematous, and scaly plaques following Blaschko's lines. Known genetic causes include somatic variants in CARD14 and GJA1. In addition, a similar phenotype of congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD ...
Janan Mohamad +10 more
wiley +1 more source
Experimental Physiology, EarlyView.Abstract Sarcopenia and frailty are complex geriatric syndromes influenced by a combination of genetic and environmental factors. Recent studies suggest that specific genetic variants, DNA methylation patterns and shortened telomeres are associated with age‐related diseases and might contribute to the development of both sarcopenia and frailty. In this
Valentina Ginevičienė +10 more
wiley +1 more source
Asparagine Synthetase Deficiency: A Novel <i>ASNS</i> Variant and a Systematic Review of Clinical Phenotypes and Cerebrospinal Fluid Asparagine Levels. [PDF]
BiomoleculesLipiński P +4 more
europepmc +1 more source
The Journal of Physiology, EarlyView.Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney +4 more
wiley +1 more source
Variants in CEP135 Cause Congenital Microcephaly and Primary Ciliary Dyskinesia. [PDF]
Pediatr PulmonolBergman-Sieger A +8 more
europepmc +1 more source
The Journal of Physiology, EarlyView.Abstract figure legend Arboviruses induce virus‐specific alterations in placental structure and functional markers. Chikungunya virus (CHIKV) exposure was associated with reduced syncytiotrophoblast and syncytial knot areas, increased cytotrophoblast proliferation (Ki‐67) and thyroid transporter (MCT8) expression, reduced protective (P‐gp and BCRP ...
Cherley B. V. Andrade +13 more
wiley +1 more source
A positive Zika virus test what does it mean for me? [PDF]
CDC understands that pregnant women may be worried and have questions about Zika virus. A positive test result might cause concerns, but it doesn\ue2\u20ac\u2122t mean your baby will have birth defects.
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Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder
American Journal of Medical Genetics Part A, Volume 200, Issue 12, Page 2601-2607, December 2026.ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf +7 more
wiley +1 more source
DONSON-Associated MISSLA with Co-Occurring p.Arg442Ter and p.Lys489Thr Variants: Longitudinal Clinical and Genomic Characterization. [PDF]
Genes (Basel)González-Andrade F.
europepmc +1 more source
An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up
American Journal of Medical Genetics Part A, Volume 200, Issue 12, Page 2794-2803, December 2026.ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula +8 more
wiley +1 more source