Results 81 to 90 of about 35,737,382 (164)
ABSTRACT Variants in the CNTNAP2 gene, encoding the cell adhesion molecule CASPR2, have been identified as genetic risk factors for autism spectrum disorder (ASD). However, the mechanisms through which CNTNAP2 dysfunction alters circuit function remain unknown.
Krisztina Sáfár +10 more
wiley +1 more source
Background and Purpose Maternal hypoxia is a recognised risk factor for neurodevelopmental disorders in offspring. Although rodent models of hypoxia have been reported, the detailed pathogenesis of maternal hypoxia‐induced neurodevelopmental disorders remains unclear.
Kentaro Tokudome +6 more
wiley +1 more source
A study of the behaviour and interactions of the novel FERM protein Willin [PDF]
Willin is a novel member of the Four-point-one Ezrin Radixin Moesin (FERM) protein superfamily, containing an N-terminal FERM domain most like the Ezrin-Radixin-Moesin (ERM) family but also the closely related protein Merlin.
Herron, Lissa Rocha
core +2 more sources
Genetic associations of plasma proteomics with dementia subtypes and neuroimaging markers
INTRODUCTION Dementia is a rising global health challenge. Advances in large‐scale proteomics and genetic databases have enabled high‐throughput screening approaches to uncover novel mechanistic pathways and therapeutic targets. METHODS This study used a
Ahmed M. Salih +9 more
doaj +1 more source
The forkhead box protein P2 (FOXP2) gene encodes an important transcription factor that contains a polyglutamine (poly‑Q) tract and a forkhead DNA binding domain. It has been observed that FOXP2 is associated with speech sound disorder (SSD), and mutations that decrease the length of the poly‑Q tract were identified in the FOXP2 gene of SSD patients ...
Yunjing, Zhao +5 more
openaire +3 more sources
Autoantibodies against contactin-associated protein 2 (CASPR2) are usually associated with autoimmune encephalitis and neuromyotonia. Their association with inflammatory neuropathies has been described in case reports albeit all with distal symmetric ...
Schilling, M. (Matthias) +8 more
core +1 more source
Engineering novel complement activity into a pulmonary surfactant protein [PDF]
Complement neutralizes invading pathogens, stimulates inflammatory and adaptive immune responses, and targets non- or altered-self structures for clearance.
Toth, Julia +20 more
core +1 more source
Heterogeneity of anti-Caspr2 antibodies: specificity and pathogenicity
Maternal anti-Caspr2 (Contactin-associated protein-like 2) antibodies have been associated with increased risk for autism spectrum disorder (ASD). Previous studies have shown that in utero exposure to anti-Caspr2 antibodies results in a phenotype with ...
Julia Su +9 more
doaj +1 more source
BackgroundMorvan syndrome is a rare autoimmune disorder characterized by peripheral nerve hyperexcitability with autonomic and central nervous system involvement, most commonly associated with antibodies against contactin-associated protein-like 2 ...
Yajing Wu +8 more
doaj +1 more source
The Forkhead box P2 (FOXP2) is an evolutionary conserved transcription factor involved in the maintenance of neuronal networks, implicated in language disorders.
Paolina Crocco +8 more
doaj +1 more source

