Results 121 to 130 of about 173,921 (270)

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, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +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

Sex‐Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect?

Annals of Neurology, EarlyView.
Background Amyotrophic lateral sclerosis (ALS) shows sex differences in incidence and age of onset, yet the underlying biological mechanisms remain poorly understood. Methods We investigated sex‐specific genetic architecture in an Italian ALS cohort with whole‐genome sequencing (1,333 ALS cases, 755 controls).
Maurizio Grassano, Francesca Palumbo, Gabriele Mora, Salvatore Gallone, Giovanni De Marco, Ilaria Merulla, Claudia Paolantonio, Alessandra Maccabeo, Antonio Canosa, Umberto Manera, Rosario Vasta, Barbara Iazzolino, Marcella Testa, Giuseppe Fuda, Paolina Salamone, Giulia Marchese, Federico Casale, Cristina Moglia, Andrea Calvo, Giuseppe Borghero, Adriano Chiò   +20 more
wiley   +1 more source

Autism-associated SNPs in the clock genes _npas2_, _per1_ and the homeobox gene _en2_ alter DNA sequences that show characteristics of microRNA genes. [PDF]

, 2008
Intronic single nucleotide polymorphisms (SNPs) in the clock genes _npas2_ and _per1_ and the homeobox gene _en2_ are reported to be associated with autism.
Brad Nicholas, Dawn C. Wimpory, Michael J. Owen, Thomas Caspari   +3 more
core   +1 more source

Why We Need to Study Assisted Methods to Teach Typing to Nonspeaking Autistic People

Autism Research, EarlyView.
ABSTRACT At least one third of autistic people have limited or no speech. Most nonspeaking autistic people are never provided alternatives that would enable the full range of expression that speech allows, significantly limiting their access to educational, social, and employment opportunities.
Vikram K. Jaswal, Barry M. Prizant, Morgan D. Barense, Kristie Patten, Gary Stobbe   +4 more
wiley   +1 more source

Quality of life for caregivers of a child aged 6-16 years with Autistic Spectrum Disorder and/or an intellectual disability : a comparative study : a thesis presented in fulfilment of the requirements for the degree of Master of Arts in Psychology at Massey University, Turitea, New Zealand [PDF]

, 2010
Quality of life for caregivers of children with autistic spectrum disorder and/or an intellectual disability was compared to quality of life for those caring for a normally developing child.
Browne, Natasha Jane, Browne, Natasha Jane   +1 more
core  

Quantitative but Not Qualitative Differences: A Longitudinal Analysis of Grammatical Marker Development in Mandarin‐Speaking Autistic Children

Autism Research, EarlyView.
ABSTRACT Past research has revealed large differences between typically developing (TD) and autistic children's language development. However, little is known about whether such differences are quantitative or qualitative, especially in the morphosyntactic domain.
Ziyan Meng, Li Wang, Hoyee W. Hirai, Patrick C. M. Wong   +3 more
wiley   +1 more source

Sexual and Reproductive Health Needs for Adolescents with Autistic Spectrum Disorder in Rwanda, A Phenomenological Study

Pediatric Health, Medicine and Therapeutics
Dusabirema Immaculée,1 Girum Sebsibie Teshome,2 Dieudonne Kayiranga,2 Philomene Uwimana2 1Department of Operation Room, Rwamagana Level II Teaching Hospital, Rwamagana, Rwanda; 2School of Nursing and Midwifery, College of Medicine and Health Sciences ...
Immaculée D, Teshome GS, Kayiranga D, Uwimana P   +3 more
doaj  

Changes in Intrinsic Activity of the Primary Somatosensory Cortex Causally Explain Differences in Emotion Perception in Autism

Autism Research, EarlyView.
ABSTRACT Autism Spectrum Disorder (ASD) is characterized by certain difficulties in emotion‐related processing. Recent research using electroencephalography (EEG) to measure somatosensory evoked potentials during emotion perception has shown reduced embodiment of emotional expressions in autistic compared to neurotypical individuals, independently from
Martina Fanghella, Danai Dima, Dimitrios Pinotsis, Sebastian B. Gaigg, Beatriz Calvo‐Merino, Bettina Forster   +5 more
wiley   +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