Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy
PROTEOMICS, EarlyView.ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling +6 more
wiley +1 more source
Molecular Evaluation of exons 8 and 22 of the SHANK3 gene in Autism Spectrum Disorders [PDF]
, 2010 Autism spectrum disorders are a group of neurodevelopmental disorders with a complex and heterogeneous etiology. Studies have shown that genetic factors play an important role in the aetiology of these diseases.
A Barbosa-Gonç +5 more
core +1 more source
Structural Modeling and Dynamics of the Full‐Length Homer1 Multimer
Proteins: Structure, Function, and Bioinformatics, EarlyView.ABSTRACT Homer proteins are modular scaffold molecules that constitute an integral part of the protein network within the postsynaptic density. Full‐length Homer1 forms a large homotetramer via a long coiled coil region, and can interact with proline‐rich target sequences with its globular EVH1 domain.
Zsófia E. Kálmán +9 more
wiley +1 more source
Concurrent Associations between Expressive Language Ability and Independence in Adolescents and Adults with Fragile X Syndrome [PDF]
, 2021 Leonard Abbeduto +5 more
openalex +1 more source
Developmental divergence: motor trajectories in children with fragile X syndrome with and without co-occurring autism. [PDF]
, 2019 BackgroundAutism spectrum disorder (ASD) is highly prevalent in fragile X syndrome (FXS), affecting 50-70% of males. Motor impairments are a shared feature across autism and FXS that may help to better characterize autism in FXS.
Bishop, Somer L +2 more
core +1 more source
The Cost of Love: Emotional Labour and Moral Tensions in the Lives of Chinese Young Carers
The British Journal of Sociology, EarlyView.ABSTRACT Like adults, children also provide care. This article explores the emotional labour of young carers who care for ill or disabled family members in China, a context where children's caregiving remains largely invisible in both policy and scholarship.
Kefan Xue, Kaidong Guo
wiley +1 more source
Additional file 9 of Altered brain-wide auditory networks in a zebrafish model of fragile X syndrome
, 2020 Lena Constantin +8 more
openalex +1 more source
Factors Associated With Hormone Replacement Therapy Use: A Systematic Review and Meta‐Analysis
BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.ABSTRACT Objective To identify factors associated with HRT uptake among women. Design A systematic review and meta‐analysis to identify factors associated with HRT uptake. Setting Retrospective and prospective cohort studies, case–control studies and cross‐sectional studies from any country and in any language. Population The study population was women
Wema Meranda Mtika +9 more
wiley +1 more source
Sensitive detection systems for infectious agents in xenotransplantation*
Xenotransplantation, EarlyView., 2020 Abstract Xenotransplantation of pig cells, tissues, or organs may be associated with transmission of porcine microorganisms, first of all of viruses, to the transplant recipient, potentially inducing a disease (zoonosis). I would like to define detection systems as the complex of sample generation, sample preparation, sample origin, time of sampling ...
Joachim Denner
wiley +1 more source
Surveillance and prevalence of fragile X syndrome in Indonesia
, 2021 Nydia Rena Benita Sihombing +5 more
openalex +2 more sources