Results 151 to 160 of about 70,338 (285)

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

Meta‐analysis of genetic mapping studies in mice reveals candidate epilepsy modifier genes that are outside the current drug development landscape

Epilepsia, EarlyView.
Abstract Objective Despite decades of development in anti‐seizure medications, ~30% of individuals remain refractory to all treatments, and none of the existing therapies are disease modifying. Identifying targets outside the current preclinical paradigm is critically important.
Giovanna L. Durante, Anna L. Tyler, Rod C. Scott, Amanda E. Hernan, J. Matthew Mahoney   +4 more
wiley   +1 more source

EHD4 and ASAP2 are critical negative regulators of the claudin‐5‐based endothelial barrier

The FEBS Journal, EarlyView.
Cell‐surface CLDN‐5 protein levels can be evaluated using a probe that can bind to the extracellular domains of CLDN‐5. A probe derived from Clostridium perfringens enterotoxin allows us to isolate cells with high CLDN‐5 protein levels from a knockout cell library.
Yosuke Hashimoto, Gergő Porkoláb, Natalie Hudson, Jeffrey O'Callaghan, Nicole Hanley, Conor Delaney, Mária A. Deli, Peter Westenskow, Matthew Campbell   +8 more
wiley   +1 more source

Novel nonsense variant of KIF11 in a patient with MCLMR. [PDF]

Hum Genome Var
Ozaki Y, Yokoi K, Nakamura Y, Fujimoto M, Ishioka R, Kasukabe K, Kato T, Saitoh S.   +7 more
europepmc   +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

Ten years of Zika in Brazil: achievements, challenges and perspectives. [PDF]

Virol J
Yuji Sasazaki F, Tudella GCN, de Oliveira-Filho EF, Lopes TRR, Carmo RF, Flores EF, Silva Júnior JVJ.   +6 more
europepmc   +1 more source

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Elisa Ballardini, Lea Bruneau, Clara Cavero‐Carbonell, Ianis Cousin, Miriam Gatt, Katya Kovacheva, Anna Latos‐Bielenska, Mary O'Mahony, Isabelle Monier, Isabelle Perthus, Riccardo Pertile, Anke Rissmann, Florence Rouget, Michelle Santoro, Joanna Sichitiu, Christine Verellen‐Dumoulin, Wladimir Wertelecki, Diana Wellesley, Joan K. Morris   +23 more
wiley   +1 more source

A multi‐omics investigation of sarcopenia and frailty: Integrating genomic, epigenomic and telomere length data

Experimental Physiology, EarlyView.
Abstract Sarcopenia and frailty are complex geriatric syndromes influenced by a combination of genetic and environmental factors. Recent studies suggest that specific genetic variants, DNA methylation patterns and shortened telomeres are associated with age‐related diseases and might contribute to the development of both sarcopenia and frailty. In this
Valentina Ginevičienė, Erinija Pranckevičienė, Alina Urnikytė, Laura Jurkūnaitė, Kristijona Gutauskaitė, Rūta Dadelienė, Justina Kilaitė, Ieva Eglė Jamontaitė, Asta Mastavičiūtė, Ildus I. Ahmetov, Vidmantas Alekna   +10 more
wiley   +1 more source

Genetic architecture and prognostic significance of suspected fetal microcephaly: evidence from prenatal exome sequencing in a large prospective cohort. [PDF]

Hum Genomics
Fu F, Wei X, Chen C, Huang R, Tan X, Zhou H, Li R, Yu Q, Li F, Zhang Y, Li L, Jing X, Li D, Sun L, Liao C.   +14 more
europepmc   +1 more source

Canonical and non‐canonical functions of proteins regulating mitochondrial dynamics in mammalian physiology

The Journal of Physiology, EarlyView.
Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney, Vincent Marcangeli, Krystel Desjardins, Shima Taherkhani, Gilles Gouspillou   +4 more
wiley   +1 more source