Cloned pairs of variable region genes for immunoglobulin heavy chains isolated from a clone library of the entire mouse genome. [PDF]
Darrell J. Kemp+2 more
openalex +1 more source
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao+34 more
wiley +1 more source
A chromosome-level reference genome assembly of the Small snakehead (Channa asiatica). [PDF]
Liu H+9 more
europepmc +1 more source
Genome engineering using the CRISPR-Cas9 system
F. Ran+6 more
semanticscholar +1 more source
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero+15 more
wiley +1 more source
Chromosome-level genome assembly of the longhorn beetle Arhopalus rusticus (Coleoptera: Cerambycidae). [PDF]
Gao YF+6 more
europepmc +1 more source
Detection by complementation of defective or uninducible (herpes simplex type 1) virus genomes latent in human ganglia. [PDF]
Stuart M. Brown+4 more
openalex +1 more source
Coffee Consumption Is Associated With Later Age‐at‐Onset of Parkinson's Disease
ABSTRACT Observation studies suggest that coffee consumption may lower the risk and delay the age‐at‐onset (AAO) of Parkinson's disease (PD). The aim of this study was to explore the causal relationship and genetic association between coffee consumption and the AAO, risk, and progression of PD. Using Mendelian randomization, we identified a significant
Dariia Kuzovenkova+3 more
wiley +1 more source
A chromosome-level genome assembly and annotation of Cercis chuniana (Fabaceae). [PDF]
Gong W+8 more
europepmc +1 more source