Results 211 to 220 of about 10,347 (278)
Cytoskeleton, EarlyView.ABSTRACT Elastic tethers connect telomeres of separating chromosomes in anaphase of animal cells. Immunofluorescence staining of titin in crane‐fly spermatocytes, using 4 different antibodies, shows that the giant elastic protein titin seems to be a component of mitotic tethers: titin “strands” extend between separating chromosomes, connecting their ...
Demetra Economopoulos +5 more
wiley +1 more source
Mitochondria and the Actin Cytoskeleton in Neurodegeneration
Cytoskeleton, EarlyView.ABSTRACT Mitochondrial dysfunction and cytoskeletal disorganization are widely recognized hallmarks of neurodegenerative diseases such as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), and amyotrophic lateral sclerosis (ALS).
Shivani Tuli +3 more
wiley +1 more source
Advantages of Exome Sequencing Over Panel Testing for Individuals With a Seizure Indication
Annals of the Child Neurology Society, EarlyView.ABSTRACT Objective Our aim was to investigate the advantages of exome sequencing versus panel testing for patients with unexplained seizures. Methods We reviewed the diagnostic outcomes of exome sequencing by a commercial genetics laboratory for more than 16 000 individuals with a clinical history of seizures or suspected seizures.
Michelle M. Morrow +8 more
wiley +1 more source
Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series
Annals of the Child Neurology Society, EarlyView.ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi +6 more
wiley +1 more source
Clinical Pharmacology in Drug Development, EarlyView.Abstract Votoplam is a novel, orally bioavailable, small molecule HTT gene splicing modifier that is being developed for the treatment of Huntington's disease. This was a single dose, open‐label, two‐period, crossover food effect study that evaluated the effect of high‐ and low‐fat meals on 20 mg votoplam in healthy participants. There was a washout of
Lucy Lee +5 more
wiley +1 more source
Clinical Pharmacology &Therapeutics, EarlyView.Thiopurine methyltransferase (TPMT) and Nudix hydrolase 15 (NUDT15) are key enzymes that catabolize thiopurines. Decreased or no‐function alleles in TPMT and NUDT15 are associated with reduced or no enzyme activity and predictive of pronounced adverse effects, including severe myelosuppression, that may occur among individuals treated with standard ...
Maud Maillard +18 more
wiley +1 more source
Developmental Dynamics, EarlyView.Abstract Background Robinow syndrome is a rare developmental syndrome caused by variants in genes in Wnt signaling pathways. We previously showed that expression of patient variants in Dishevelled 1 (DVL1) in Drosophila and chicken models disrupts the balance of canonical and non‐canonical Wnt signaling.
Gamze Akarsu +4 more
wiley +1 more source
Identification of novel genes regulating the development of the palate
Developmental Dynamics, EarlyView.Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley +1 more source