Frontiers in Genetics, 2022 Purpose: Observational research has indicated the presence of a causal relationship between sleep disturbances and low back pain (LBP). However, the link may have been biased by confounding factors.
Peng Shu +4 more
doaj +1 more source
Is it possible to implement a rare disease case-finding tool in primary care? A UK-based pilot study
Orphanet Journal of Rare Diseases, 2022 Introduction This study implemented MendelScan, a primary care rare disease case-finding tool, into a UK National Health Service population. Rare disease diagnosis is challenging due to disease complexity and low physician awareness.
Orlando Buendia +9 more
doaj +1 more source
Genetic and karyotype divergence between parents affect clonality and sterility in hybrids
eLife, 2023 Asexual reproduction can be triggered by interspecific hybridization, but its emergence is supposedly rare, relying on exceptional combinations of suitable genomes.
Anatolie Marta +11 more
doaj +1 more source
Genome-wide and Mendelian randomisation studies of liver MRI yield insights into the pathogenesis of steatohepatitis [PDF]
, 2020 Background A non-invasive method to grade the severity of steatohepatitis and liver fibrosis is magnetic resonance imaging (MRI) based corrected T1 (cT1).
Banerjee, R +25 more
core +3 more sources
Unveiling the Mysteries of Non-Mendelian Heredity in Plant Breeding
Plants, 2023 Mendelian heredity is the cornerstone of plant breeding and has been used to develop new varieties of plants since the 19th century. However, there are several breeding cases, such as cytoplasmic inheritance, methylation, epigenetics, hybrid vigor, and ...
Mohsen Yoosefzadeh Najafabadi +2 more
doaj +1 more source
Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]
, 2013 Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui +2 more
core +2 more sources
The role of mutation rate variation and genetic diversity in the architecture of human disease [PDF]
, 2013 Background We have investigated the role that the mutation rate and the structure of genetic variation at a locus play in determining whether a gene is involved in disease.
A Hodgkinson +29 more
core +4 more sources
Monogenic Lupus: A Developing Paradigm of Disease
Frontiers in Immunology, 2018 Monogenic lupus is a form of systemic lupus erythematosus (SLE) that occurs in patients with a single gene defect. This rare variant of lupus generally presents with early onset severe disease, especially affecting the kidneys and central nervous system.
Jessie M. Alperin +3 more
doaj +1 more source
An heuristic filtering tool to identify phenotype-associated genetic variants applied to human intellectual disability and canine coat colors [PDF]
, 2015 Background: Identification of one or several disease causing variant(s) from the large collection of variants present in an individual is often achieved by the sequential use of heuristic filters.
Bosmans, Tim +8 more
core +5 more sources
Causal analysis between gastro-oesophageal reflux disease and obstructive sleep apnoea
ERJ Open Research, 2023 Background Based on evidence from existing observational research, clarifying the causal relationship between gastro-oesophageal reflux disease (GORD) and obstructive sleep apnoea (OSA) is challenging.
Gui Chen +8 more
doaj +1 more source