Results 71 to 80 of about 282,128 (301)

Exploring face perception in disorders of development: evidence from Williams syndrome and autism [PDF]

, 2008
Individuals with Williams syndrome (WS) and autism are characterized by different social phenotypes but have been said to show similar atypicalities of face-processing style.
Baron-Cohen, Baron-Cohen, Bellugi, Bellugi, Bellugi, Boucher, Brothers, Bruce, Bruce, Calder, Castelli, Deborah M. Riby, Deruelle, Deruelle, Dunn, Frigerio, Frith, Gepner, Gwyneth Doherty-Sneddon, Haxby, Hefter, Johnson, Jones, Karmiloff-Smith, Karmiloff-Smith, Karmiloff-Smith, Klin, Kylliäinen, Lopéz, Meyer-Lindenberg, Morris, Mottron, Peeters, Plesa-Skwerer, Raven, Reiss, Rutter, Schopler, Searcy, Singh, Strømme, Tager-Flusberg, Tassabehji, Teunisse, Teunisse, Thomas, Tranel, Vicki Bruce, Wing, Zebrowitz   +49 more
core   +1 more source

Reciprocal control of viral infection and phosphoinositide dynamics

FEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

MYT1L mutation in a patient with severe early-onset obesity and intellectual disability

Pediatria Polska
Children suffering from intellectual disability, dysmorphic features and organ-specific developmental abnormalities should undergo genetic testing. Entities such as X fragile syndrome should be investigated.
André Costa e Silva, Inês Maio, Cecília Martins, Sara Pires, Cláudia Gonçalves   +4 more
doaj   +1 more source

Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion

Human Genome Variation, 2022
There is only one report of patients with developmental delay due to a 6q16.1 deletion that does not contain the SIM1 gene. A 3-year-old female showed strabismus, cleft soft palate, hypotonia at birth, and global developmental delay.
Tetsuya Okazaki, Tatsuya Kawaguchi, Yusuke Saiki, Chisako Aoki, Noriko Kasagi, Kaori Adachi, Ken Saida, Naomichi Matsumoto, Eiji Nanba, Yoshihiro Maegaki   +9 more
doaj   +1 more source

Development of spatial coarse-to-fine processing in the visual pathway [PDF]

, 2013
The sequential analysis of information in a coarse-to-fine manner is a fundamental mode of processing in the visual pathway. Spatial frequency (SF) tuning, arguably the most fundamental feature of spatial vision, provides particular intuition within the ...
Nirody, Jasmine A.
core   +2 more sources

Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation

FEBS Letters, EarlyView.
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe, Tanmay Kumar Mohanty, Rashna Bhandari, Dorothea Fiedler   +3 more
wiley   +1 more source

Speech and Language Delay in Children: Child Neurology Experience

Journal of Behçet Uz Children's Hospital
Objective: Speech delay in early childhood can signify various underlying issues, including neurological disorders. The study aims to comprehensively investigate the etiology of speech delay in children aged 2-5 years and to delineate potential ...
Betül Diler Durgut, Emine Tekin
doaj   +1 more source

De novoframeshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies [PDF]

, 2013
BACKGROUND: Currently, diagnosis of affected individuals with rare genetic disorders can be lengthy and costly, resulting in a diagnostic odyssey and in many patients a definitive molecular diagnosis is never achieved despite extensive clinical ...
Carol J Saunders, Darrell L Dinwiddie, Emily G Farrow, Laurie D Smith, Neil A Miller, Sarah E Soden, Stephen F Kingsmore   +6 more
core   +1 more source

In situ molecular organization and heterogeneity of the Legionella Dot/Icm T4SS

FEBS Letters, EarlyView.
We present a nearly complete in situ model of the Legionella Dot/Icm type IV secretion system, revealing its central secretion channel and identifying new components. Using cryo‐electron tomography with AI‐based modeling, our work highlights the structure, variability, and mechanism of this complex nanomachine, advancing understanding of bacterial ...
Przemysław Dutka, Yuxi Liu, Stefano Maggi, Debnath Ghosal, Jue Wang, Prashant P. Damke, Stephen D. Carter, Wei Zhao, Sukhithasri Vijayrajratnam, Joseph P. Vogel, Carrie L. Shaffer, Grant J. Jensen   +11 more
wiley   +1 more source

Defects in the Neuroendocrine Axis Contribute to Global Development Delay in a Drosophila Model of NGLY1 Deficiency

G3: Genes, Genomes, Genetics, 2018
N-glycanase 1 (NGLY1) Deficiency is a rare monogenic multi-system disorder first described in 2014. NGLY1 is evolutionarily conserved in model organisms.
Tamy Portillo Rodriguez, Joshua D. Mast, Tom Hartl, Tom Lee, Peter Sand, Ethan O. Perlstein   +5 more
doaj   +1 more source