DNAJC13 Variants Show No Robust Association With Parkinson's Disease in a Multiancestry Cohort
Movement Disorders, EarlyView.Abstract Background DNAJC13 was initially linked to autosomal dominant (AD) Parkinson's disease (PD) in a European Mennonite family carrying the p.N855S variant. However, imperfect segregation and conflicting reports of pathogenicity raised uncertainty of the role of DNAJC13 in the disease.
César Luis Ávila +11 more
wiley +1 more source
SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago
Movement Disorders, EarlyView.Abstract Background SLC7A6OS c.191A>G is a rare, autosomal recessive cause of progressive myoclonus epilepsy (PME). The c.191A>G variant, first discovered in two families from Türkiye and Portugal, was recently identified in three additional probands from the USA, all of Puerto Rican ancestry.
Bronwyn E. Grinton +17 more
wiley +1 more source
Mitochondrial Haplotype Shapes the Trajectory of Ovarian Aging in Genetically Heterogeneous Rats. [PDF]
Aging CellBiswas S +11 more
europepmc +1 more source
Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Mirror syndrome is a rare, life‐threatening condition in which maternal fluid overload mirrors fetal hydrops. Data on genetic findings in affected pregnancies are limited. We compared genetic diagnoses in hydrops cases with and without mirror syndrome.
Brian A. Burnett +11 more
wiley +1 more source
Integrative Long-Read Multi-Omics of a Patient With GPI Deficiency: A Molecular Case Study of a Candidate Dual-Effect GPI Variant. [PDF]
J Cell Mol MedStolarek I +8 more
europepmc +1 more source
Gene turnover in the common ancestor of all C4 grasses
PLANTS, PEOPLE, PLANET, EarlyView.Understanding how plants evolve more efficient photosynthesis is important in a warming world where improving crop productivity and resilience is a global priority. By generating the first reference genomes for an early‐diverging group of grasses called the Aristidoideae, we were able to reconstruct the genetic makeup of the last common ancestor of all
Lara Pereira +6 more
wiley +1 more source
A high-quality haplotype-resolved genome of Pyrus calleryana provides insights into adaptive gene families. [PDF]
Plant GenomeDai X +9 more
europepmc +1 more source
From wild to tamed: Reimagining novel crops through omics and local plant diversity
PLANTS, PEOPLE, PLANET, EarlyView.The global food system faces growing pressure from climate change, biodiversity loss, and rising nutritional demands. Agriculture has increased yields but reduced crop diversity, flavor, and nutritional quality, leaving societies vulnerable and dependent on a narrow set of staple species.
Alexandra Sanfeliu Meliá +1 more
wiley +1 more source