Results 141 to 150 of about 49,640 (282)

Oxidative Stress Drives Cell Cycle Stalling, Apoptosis and Metabolic Suppression in Cystatin B Deficient EPM1 Patient iPSCs

Cell Proliferation, EarlyView.
CSTB deficient EPM1 iPS cells manifest increased lysosomal activity and oxidative stress, which lead to DNA damage, cell cycle defects and increased apoptosis. As a protective response, metabolism is suppressed. Image created by BioRender https://BioRender.com/t44oc6h.
Shekhar Singh, Lidiia Plotnikova, Teemu Tiukuvaara, Reetta Kälviäinen, Riikka H. Hämäläinen   +4 more
wiley   +1 more source

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy

Developmental Medicine &Child Neurology, EarlyView.
Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine, Michele H. Potashman, Deepshikha Pawar, Sugandh Sharma, Katja Rudell, Jason Lerner, Vlad Coric, Anne T. Berg, John Millichap, Gil L'Italien   +9 more
wiley   +1 more source

Possible association between Zika virus and microcephaly [PDF]

CDC is aware of reports of increased numbers of babies born with microcephaly (smaller than expected head size) in Brazil. The Ministry of Health (MOH) of Brazil is concerned about a possible association between the Zika virus outbreak and increased ...

core  

Characteristics of unilateral cerebral palsy according to gestational age at birth: A retrospective study

Developmental Medicine &Child Neurology, EarlyView.
Unilateral cerebral palsy (CP) affects 826 children in the Canadian CP Registry: 69% born at term, 15% 32 to 37 weeks, and 16% less than 32 weeks. Gestational age at birth did not affect impairments such as vision or hearing impairment, ambulation, seizures, or feeding difficulty.
Johanie Victoria Piché, Nafisa Hussein, Adam Kirton, Darcy Fehlings, Maryam Oskoui, Michael Shevell, Mary Dunbar   +6 more
wiley   +1 more source

Functional characterization of 42 CK2α de novo variants associated with Okur‐Chung neurodevelopmental syndrome

The FEBS Journal, EarlyView.
Okur‐Chung neurodevelopmental syndrome (OCNDS) is a neurodevelopmental disorder associated with mutations in the gene coding for Protein kinase CK2α. In this work, 42 variants of CK2α associated with OCNDS were characterized in vitro. This included determination of catalytic activity and CK2α/CK2β‐interaction as well as an assessment of evolutionary ...
Alexander Gast, Christian Werner, Karsten Niefind, Joachim Jose   +3 more
wiley   +1 more source

Vectors and Vector‐Borne Diseases: Biology, Epidemiology and Integrated Control Strategies

Journal of Applied Entomology, EarlyView.
ABSTRACT Vector‐Borne Diseases (VBDs), transmitted by arthropods such as mosquitoes, ticks, fleas and sandflies, represent a significant threat to global health. These diseases can be caused by a variety of pathogens, including bacteria, viruses, protozoa, and helminths.
Roberta Rinaldi, Carmen Scieuzo, Federica De Stefano, Luca Masucci, Patrizia Falabella   +4 more
wiley   +1 more source

Giants in the cold: Morphological evidence for vascular heat retention in the viscera but not the skeletal muscle of the basking shark (Cetorhinus maximus)

Journal of Fish Biology, EarlyView.
Abstract Fewer than 50 of the over 30,000 extant species of fishes have developed anatomical specializations facilitating endothermy in specific body regions. The plankton‐feeding basking shark (Cetorhinus maximus), traditionally classified as an ectotherm, was recently shown to have regionally endothermic traits such as centralized red muscle (RM ...
C. Antonia Klöcker, Axel Schlindwein, Martin C. Arostegui, Ingrid M. Bruvold, Joel V. Wernström, Montserrat Martin‐Armas, David W. Sims, Nicolas Straube, Andreas Altenburger, Claudia Junge   +9 more
wiley   +1 more source

Lake sturgeon (Acipenser fulvescens) growth and longevity estimated from adult capture–mark–recapture data

Journal of Fish Biology, EarlyView.
Abstract Effective fishery management policy depends on accurate life‐history data, particularly for harvested species. Longevity is a core life‐history trait that is directly related to annual survival and lifetime reproductive potential, but fish longevity is generally not well documented, particularly for long‐lived species.
Edward A. Baker, Scott F. Colborne, Nancy A. Auer, Kim T. Scribner, Douglas L. Larson, Andrew S. Briggs, Ronald M. Bruch, Margaret H. Stadig, Michael C. Donofrio   +8 more
wiley   +1 more source

Microtubule flux dysregulation causes primary microcephaly

Primary microcephaly (MCPH) is an inborn neurodevelopmental disorder that leads to reduction of brain size in the newborns. The impaired neuronal progenitor proliferation is at the origin of this disease and it leads to impaired cognitive abilities which
Ivanova, Daria
core   +1 more source

Use of Wearable Sensors in Angelman Syndrome: A Systematic Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Wearable sensors are a promising method for collecting clinical trial outcome data for people with Angelman syndrome (AS). However, there has yet to be a systematic probe into the ways in which wearable sensors have been successfully used in AS. The current study aims to provide a quantitative summary of wearable sensors used in AS,
Veronika Vozka, Wei Siong Neo, Jane Kinkus Yatcilla, Carolyn E. B. McCormick, Roslyn Harold, Kimberly Gálvez‐Ortega, Mihir Dey, Laura E. Fitzpatrick, A. J. Schwichtenberg, Orlando S. Hoilett, Dan Foti, Bridgette L. Kelleher   +11 more
wiley   +1 more source