Results 91 to 100 of about 18,861 (235)

Mental Health Stigma in Psychiatric Genetics: Insights and Recommendations From the ISPG Member Survey on Stigma

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Little is known about how stigma is perceived within psychiatric genetics, a field increasingly central to public discussions about heredity, neurodiversity, and psychiatric risk. Understanding how stigma is perceived and experienced by psychiatric geneticists is important for guiding responsible communication and future stigma‐reduction ...
Anaïs B. Thijssen, Elleke Tissink, Reeteka Sud, Mandy Johnstone, Richard Josiassen, Andrea Lahti, Laura Huckins, Ariana Page, Stigma Reduction Interest Group of the ISPG, Jordan W. Smoller, Jehannine Austin, Janneke Zinkstok, Sarah E. Medland, Rada Veeneman, Anna R. Docherty   +14 more
wiley   +1 more source

Molecular Basis for Activation to Inhibition Switching in Kv7.2 Channel Modulators

Angewandte Chemie, EarlyView.
The paper describes the serendipitous discovery of chemical manipulation allowing the activator‐to‐inhibitor switching in Kv7.2 channel modulators. The molecular determinants driving this switch have been rationalized by multidisciplinary investigation encompassing synthetic and analytical chemistry, in silico methods, cryo‐EM analysis ...
Tania Ciaglia, Giusy Carleo, Zhenni Yang, Francesca Di Matteo, Federica De Rosa, Gerardina Smaldone, Zhao‐Bing Gao, Marco D'Alì, Rita Turcio, Demin Ma, Veronica Di Sarno, Nannan Su, Salvatore Vincenzo Giofrè, Giacomo Pepe, Pietro Campiglia, Alessia Bertamino, Francesco Miceli, Jiangtao Guo, Nunzio Iraci, Carmine Ostacolo, Maurizio Taglialatela   +20 more
wiley   +2 more sources

A Mouse Mutation That Dysregulates Neighboring Galnt17 and Auts2 Genes Is Associated with Phenotypes Related to the Human AUTS2 Syndrome

G3: Genes, Genomes, Genetics, 2019
AUTS2 was originally discovered as the gene disrupted by a translocation in human twins with Autism spectrum disorder, intellectual disability, and epilepsy. Since that initial finding, AUTS2-linked mutations and variants have been associated with a very
P. Anne Weisner, Chih-Ying Chen, Younguk Sun, Jennifer Yoo, Wei-Chun Kao, Huimin Zhang, Emily T. Baltz, Joseph M. Troy, Lisa Stubbs   +8 more
doaj   +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

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

'I fit the category of the box, it just doesn't describe me well.' Exploring the perspectives of autistic women and gender-diverse individuals on self-report autism measures.

PLoS ONE
Psychological assessments play a significant role in both clinical decision-making and the interpretation of research findings, with the quality of these inferences depending on the validity of the measures used. Recent evidence suggests there are gender
Nora Uglik-Marucha, Serafina Show, Silia Vitoratou, Francesca Happé, Hannah Belcher   +4 more
doaj   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 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

Is it Possible to Assess the Two-Domain Definition of the Broad Autism Phenotype Using the Available Measurement Tools? [PDF]

J Autism Dev Disord, 2022
Godoy-Giménez M, González-Rodríguez A, Cañadas F, Estévez AF, Sayans-Jiménez P.   +4 more
europepmc   +1 more source