Results 131 to 140 of about 39,488 (289)

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Diminished emotion recognition with reduced face gaze in complex situation in individuals with broad autism phenotype. [PDF]

Int J Clin Health Psychol, 2023
Cha WJ, Kim K.
europepmc   +1 more source

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

Annals of Neurology, EarlyView.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins, Philip H. Iffland II, John Page, Rebecca Z. Flessner, Soad M. Elziny, Irina Sbornova, Janice K. Babus, Sophie R. Bruckmeier, Ria Parikh, Merel Verhoeven, James Fasham, Joseph S. Leslie, Richard Caswell, Nishanka Ubeyratna, Olivia Wenger, Ethan M. Scott, John Schreiber, Steffen Syrbe, Annick Klabunde‐Cherwon, Martina Owens, Andrew H. Crosby, Emma L. Baple, Peter B. Crino, the KPTN Consortium, Andrea Seeley, Heather Rocha, Sabine Rudnick, Ulrich Schaatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Ian Ellis, Raza Maroofian, Almundher Al‐Maawali, David Coman, Anthony Morosini, Sajjad Biglari, Pooneh Nikuei, Saadet Mercimek‐Andrews, Prab Prabhakar, Raymond Louie, Kameryn Butler, Olivia Wenger, Ethan M. Scott, Andrea Seeley, Heather Rocha, Amber Begtrup, Sabine Rudnik, Ulrich Schatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Marijn Stokman, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Kristina Zhelcheska, Henry Houlden, Ian Ellis, Reza Maroofian, Gholamreza Shariati, Hamid Galehdari, Almundher Al‐Maawali, Adila Al‐Kindi, Andrew Y. Shuen, Victoria Siu, Annick Klabunde‐Cherwon, Steffen Syrbe   +104 more
wiley   +1 more source

Reframing Autism: A Theoretical Synthesis on Androgen-Mediated Cognitive Phenotypes and the Adaptive Feedback Model of Repetitive Behaviours

Revista Discapacidad, Clínica, Neurociencias
This article presents a comprehensive theoretical synthesis that critically examines and reframes two distinct facets of autism spectrum condition (ASC).
Michele Di Salvo
doaj   +1 more source

Does the Extreme Male Brain Hypothesis of Autism Apply More to Females Than Males? A Systematic and Meta‐Analytic Approach

Autism Research, EarlyView.
ABSTRACT The extreme male brain (EMB) hypothesis posits that autism risk is mediated by high systemizing and low empathizing. This hypothesis has accrued extensive support, but the degree to which it applies in females compared to males, and the relative extent to which autism is associated with empathizing compared to systemizing, is unclear ...
Cory Szakal, Bernard Crespi
wiley   +1 more source

O Fenótipo Ampliado do Autismo em genitores de crianças com Transtorno do Espectro Autista - TEA

Psicologia: Teoria e Pesquisa
RESUMOPesquisadores têm identificado expressões mais leves de traços do Transtorno do Espectro do Autismo - TEA em pais e irmãos destes indivíduos, que são definidas como Fenótipo Ampliado do Autismo (FAA).
Renata Giuliani Endres, Simone Steyer Lampert, Jaqueline Bohrer Schuch, Tatiana Roman, Cleonice Alves Bosa   +4 more
doaj   +1 more source

Altered Brain Structure in an ATRX‐Deficient Mouse Model of Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Mutations in the ATRX gene are a primary cause of alpha‐thalassemia intellectual disability X‐linked (ATRX) syndrome, which is characterized by intellectual disability, autism, and a range of brain structural abnormalities, including microcephaly.
Katherine Quesnel, Jacob Ellegood, Jason P. Lerch, Nathalie G. Bérubé   +3 more
wiley   +1 more source

Association of autistic personality traits with the EEG scores in non-clinical subjects during the facial video viewing

Вавиловский журнал генетики и селекции
A software information module of the experimental computer platform “EEG_Self-Construct” was developed and tested in the framework of this study. This module can be applied for identification of neurophysiological markers of self-referential processes ...
A. N. Savostyanov, D. A. Kuleshov, D. I. Klemeshova, M. S. Vlasov, A. E. Saprygin   +4 more
doaj   +1 more source

An investigation of a novel broad autism phenotype: increased facial masculinity among parents of children on the autism spectrum. [PDF]

Proc Biol Sci, 2022
Tan DW, Gilani SZ, Alvares GA, Mian A, Whitehouse AJO, Maybery MT.   +5 more
europepmc   +1 more source

Auditory Discrimination and Auditory Sensory Behaviours in Autism Spectrum Disorders [PDF]

, 2009
It has been hypothesised that auditory processing may be enhanced in autism spectrum disorders (ASD). We tested auditory discrimination ability in 72 adolescents with ASD (39 childhood autism; 33 other ASD) and 57 IQ and age-matched controls, assessing ...
Charman, Tony, Jones, Catherine
core   +1 more source