Results 111 to 120 of about 90,161 (348)
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Drug hypersensitivity caused by alteration of the MHC-presented self-peptide repertoire [PDF]
, 2012 Idiosyncratic adverse drug reactions are unpredictable, dose independent and potentially life threatening; this makes them a major factor contributing to the cost and uncertainty of drug development. Clinical data suggest that many such reactions involve
A. Lucas +47 more
core +4 more sources
Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9
Animal Models and Experimental Medicine, EarlyView.Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu +6 more
wiley +1 more source
DNM1 encephalopathy: A new disease of vesicle fission. [PDF]
, 2017 ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling ...
Campbell, Colleen A +38 more
core +2 more sources
The Anatomical Record, EarlyView.Bioimaging of the sense organs and brain of fishes and reptiles. Left panel: 3D reconstruction of the head and brain of the deep‐sea viperfish Chauliodus sloani following diceCT. Right panel: A 3D reconstruction of a 70‐day‐old embryo head of the bearded dragon Pogona vitticeps following diceCT, showing the position of the segmented brain within the ...
Shaun P. Collin +9 more
wiley +1 more source
Causes of Microcephaly in the Zika Era in Argentina: A Retrospective Study
Global Pediatric Health, 2021 There are gaps in understanding the causes and consequences of microcephaly. This paper describes the epidemiological characteristics, clinical presentations, and etiologies of children presenting microcephaly during the Zika outbreak in Argentina.
Griselda Berberian MD +9 more
doaj +1 more source
Zika virus infection reprograms global transcription of host cells to allow sustained infection. [PDF]
, 2017 Zika virus (ZIKV) is an emerging virus causally linked to neurological disorders, including congenital microcephaly and Guillain-Barré syndrome. There are currently no targeted therapies for ZIKV infection.
Bansal, Vikas +5 more
core +2 more sources
Epilepsia, 2020 To estimate the incidence of epilepsy in children with Zika‐related microcephaly in the first 24 months of life; to characterize the associated clinical and electrographic findings; and to summarize the treatment responses.
M. D. Carvalho +13 more
semanticscholar +1 more source
Head Growth Trajectories During the First Year of Life and Risk of Autism Spectrum Disorder
Autism Research, EarlyView.ABSTRACT Atypical infant head circumference (HC)—including increased rates of macrocephaly and microcephaly—has been linked to autism spectrum disorder (ASD). However, specific head growth trajectories associated with ASD remain poorly defined. This retrospective case–control study aimed to delineate these trajectories and examine their relationship to
Rewaa Balaum +7 more
wiley +1 more source