Results 121 to 130 of about 475,058 (385)

The molecular genetics of RASopathies: An update on novel disease genes and new disorders

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 425-439, December 2022., 2022
Abstract Enhanced signaling through RAS and the mitogen‐associated protein kinase (MAPK) cascade underlies the RASopathies, a family of clinically related disorders affecting development and growth. In RASopathies, increased RAS‐MAPK signaling can result from the upregulated activity of various RAS GTPases, enhanced function of proteins positively ...
Marco Tartaglia, Yoko Aoki, Bruce D. Gelb   +2 more
wiley   +1 more source

Healthy Ageing and Intellectual Disability study: summary of findings and the protocol for the 10-year follow-up study

BMJ Open, 2022
Patrick J E Bindels, Roy G Elbers, Marleen J de Leeuw, Alyt Oppewal, Mireille W E J Knulst, Marco C van Maurik, Marjoleine C van Bruggen, Thessa I M Hilgenkamp, Dederieke A M Maes-Festen   +8 more
doaj   +1 more source

Stalking, harassment, gendered abuse, and violence towards politicians in the COVID-19 pandemic and recovery era

Frontiers in Psychiatry
BackgroundHigh levels of harassment and threats against parliamentarians are being reported internationally, especially in the social media space. This is occurring alongside changes in our social landscape, with increasing political polarisation and the
Susanna Every-Palmer, Susanna Every-Palmer, Oliver Hansby, Oliver Hansby, Justin Barry-Walsh   +4 more
doaj   +1 more source

Mothers with Intellectual Disabilities Raising Children with Intellectual Disabilities [PDF]

Journal of Intellectual Disability - Diagnosis and Treatment, 2017
The article describes the results of research involving mothers with intellectual disabilities. The aim of author's own study was to learn about maternal experiences related to raising children with intellectual disabilities. The experiences were described in greater detail in relation to the diagnosed disabilities of their children, early stage of ...
openaire   +2 more sources

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. [PDF]

, 2017
ObjectiveWe aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations.MethodsPatients with mutations or chromosomal disruptions affecting ARHGEF9 were identified through our clinics and review of the ...
Alber, Michael, Becker, Felicitas, Dalal, Ashwin B, Dutta, Usha R, Gradek, Gyri, Jamali, Payman, Kahrizi, Kimia, Kalscheuer, Vera M, Korenke, Christoph, Lesca, Gaetan, Marco, Elysa, Marshall, Christian R, Mercier, Sandra, Minassian, Berge A, Najmabadi, Hossein, Scherer, Stephen W, Sherr, Elliott, Suckow, Vanessa, Till, Marianne, Walker, Susan, Wiesener, Antje, Yamamoto, Toshiyuki   +21 more
core  

Robust Stick‐and‐Play Photothermal Icephobic Film with Bioinspired Insulation Cells

Advanced Science, EarlyView.
Inspired by the seed‐and‐framework structure of lotus seedpods, a photothermal anti‐icing film is developed by embedding thermal‐management hydrophobic microcells (THMC) into PDMS. Combining photothermal/insulating synergy and hydrophobic microcells, it achieves heat accumulation, surface adhesion, and robust anti‐icing under weak light, enabling ...
Xiaohu Xia, Haotian Chen, Yiming Wang, Haidong Yu, Bingsuo Zou, Yabin Zhang   +5 more
wiley   +1 more source

Clinical overview on RASopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022
Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley   +1 more source

Mortality Among Adults With Intellectual Disability in England: Comparisons With the General Population. [PDF]

, 2016
OBJECTIVES: To describe mortality among adults with intellectual disability in England in comparison with the general population. METHODS: We conducted a cohort study from 2009 to 2013 using data from 343 general practices.
Baxter H, Carole Beighton, Derek G. Cook, Fay J. Hosking, Hollins S, Iain M. Carey, Landes SD, Stephen DeWilde, Sunil M. Shah, Tess Harris   +9 more
core   +1 more source

Designed Biomaterial‐Enhanced Cell Transplantation for Neural Tissue Engineering

Aggregate, EarlyView.
Biomaterials offer a promising solution for cell transplantation in the central nervous system by creating a protective environment that enhances cell survival, integration, and functional recovery in preclinical models of neurological disorders. ABSTRACT Cell transplantation therapy in the central nervous system is hindered by limited survival and ...
Yun Tang, Alice Le Friec, Menglin Chen, Di Sun   +3 more
wiley   +1 more source

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 501-509, December 2022., 2022
Abstract Gene variants that dysregulate signaling through the RAS‐MAPK pathway cause cardiofaciocutaneous syndrome (CFCS), a rare multi‐system disorder. Infantile epileptic spasms syndrome (IESS) and other forms of epilepsy are among the most serious complications.
Daniel L. Kenney‐Jung, Dante J. Rogers, Samuel J. Kroening, Abigail L. Zatkalik, Ashley E. Whitmarsh, Amy E. Roberts, Martin Zenker, Maria Luigia Gambardella, Ilaria Contaldo, Chiara Leoni, Roberta Onesimo, Giuseppe Zampino, Marco Tartaglia, Domenica I. Battaglia, Elizabeth I. Pierpont   +14 more
wiley   +1 more source