A Genetic Bridge Between Medicine and Neurodiversity for Autism.

Autism represents a large spectrum of diverse individuals with varying underlying genetic architectures and needs. For some individuals, a single de novo or ultrarare genetic variant has a large effect on the intensity of specific dimensions of the phenotype, while, for others, a combination of thousands of variants commonly found in the general population are involved. The variants with large impact are found in up to 30% of autistic individuals presenting with intellectual disability, significant speech delay, motor delay, and/or seizures.

Genomic Resources and Annotations for a Colonial Ascidian, the Light-Bulb Sea Squirt Clavelina lepadiformis.

Ascidian embryos have been studied since the birth of experimental embryology at the end of the 19th century. They represent textbook examples of mosaic development characterized by a fast development with very few cells and invariant cleavage patterns and lineages. Ascidians belong to tunicates, the vertebrate sister group, and their study is essential to shed light on the emergence of vertebrates.

The Effectiveness of Compression Garments for Reducing Pain in Non-Vascular Ehlers-Danlos Syndromes: A Prospective Observational Cohort Study.

Patients with Ehlers-Danlos Syndrome (EDS) frequently suffer from severe chronic pain. We carried out an observational cohort study to assess the effectiveness of compression garments (CGs) for reducing this pain. Patients with non-vascular EDS were given custom-made Cerecare CGs during a visit to a specialist clinic (visit V0).

Oligogenicity, C9orf72 expansion, and variant severity in ALS.

"Oligogenic inheritance" is used to describe cases where more than one rare pathogenic variant is observed in the same individual. While multiple variants can alter disease presentation, the necessity of multiple variants to instigate pathogenesis has not been addressed in amyotrophic lateral sclerosis (ALS). We sequenced ALS-associated genes in C9orf72-expansion-positive and negative ALS patients, alongside unaffected controls, to test the importance of oligogenicity and variant deleteriousness in ALS.

Somatic expansion of the hexanucleotide repeat does not occur in ALS spinal cord tissues.

Objective: To test for somatic hexanucleotide repeat expansion (HRE) and hexanucleotide repeat length instability in the spinal cord of amyotrophic lateral sclerosis (ALS) cases.

Methods: Whole and partial spinal cords of 19 ALS cases were dissected into transversal sections (5 mm thick). The presence of HRE was tested in each independent section using RepeatPrimed PCR and amplicon-size genotyping.

Do replicates of independent guppy lineages evolve similarly in a predator-free laboratory environment?

The Trinidadian guppy is emblematic of parallel and convergent evolution, with repeated demonstrations that predation regime is a driver of adaptive trait evolution. A classic and foundational experiment in this system was conducted by John Endler 40 years ago, where male guppies placed into low-predation environments in the laboratory evolved increased color in a few generations. However, Endler's experiment did not employ the now typical design for a parallel/convergent evolution study, which would employ replicates of different ancestral lineages.

Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases.

Essential Tremor is a prevalent neurological disorder of unknown etiology. Studies suggest that genetic factors contribute to this pathology. To date, no causative mutations in a gene have been reproducibly reported.

Formation of H on graphene using Eley-Rideal and Langmuir-Hinshelwood processes.

A hydrogen atom can either physisorb or chemisorb onto a graphene surface. To describe the interaction of H with graphene, we trained the C-C, H-H, and C-H interactions of the ReaxFF CHO bond order potential to reproduce Density Functional Theory (DFT) generated values of graphene cohesive energy and lattice constant, H dissociation energy, H on graphene adsorption potentials, and H formation on graphene using the Eley-Rideal (ER) and Langmuir-Hinshelwood (LH) processes. The results, generated from the trained H-graphene potentials, are in close agreement with the corresponding results from DFT.