Results 81 to 90 of about 5,512,004 (328)
On the road to personalised and precision geomedicine: medical geology and a renewed call for interdisciplinarity [PDF]
, 2016 Our health depends on where we currently live, as well as on where we have lived in the past and for how long in each place. An individual’s place history is particularly relevant in conditions with long latency between exposures and clinical ...
Kamel Boulos, MN, Le Blond, JS
core +2 more sources
Microbial exopolysaccharide production by polyextremophiles in the adaptation to multiple extremes
FEBS Letters, EarlyView.Polyextremophiles are microorganisms that endure multiple extreme conditions by various adaptation strategies that also include the production of exopolysaccharides (EPSs). This review provides an integrated perspective on EPS biosynthesis, function, and regulation in these organisms, emphasizing their critical role in survival and highlighting their ...
Tracey M Gloster, Ebru Toksoy Öner
wiley +1 more source
Australian Journal of Clinical EducationAdvances in genomic medicine are transforming modern healthcare, with genetics playing an increasingly integral role across multiple medical specialties.
Kelsey Walsh
doaj +1 more source
F1000Research, 2016 The motor neuron disease amyotrophic lateral sclerosis (ALS) typically begins with localized muscle weakness. Progressive, widespread paralysis often follows over a few years.
Steven A. Frank
doaj +1 more source
Array genotyping as diagnostic approach in medical genetics
Molecular Genetics & Genomic Medicine, 2022 Genotyping arrays are by far the most widely used genetic tests but are not generally utilized for diagnostic purposes in a medical context. In the present study, we examined the diagnostic value of a standard genotyping array (Illumina Global Screening ...
Martina Witsch‐Baumgartner +9 more
doaj +1 more source
FEBS Letters, EarlyView.We investigated the seeded assembly of 0N3R tau and two variants, C322A and C322S, designed to model the mutation landscape at residue 322, using Alzheimer's disease brain homogenates in a real‐time quaking‐induced conversion (RT‐QuIC) assay. The C322A variant formed filaments that partially resembled the paired helical filament (PHF) structure ...
Alessia Santambrogio +9 more
wiley +1 more source
Wellcome Open Research, 2017 Detection of deletions and duplications of whole exons (exon CNVs) is a key requirement of genetic testing. Accurate detection of this variant type has proved very challenging in targeted next-generation sequencing (NGS) data, particularly if only a ...
Shazia Mahamdallie +10 more
doaj +1 more source
FEBS Letters, EarlyView.Phytohormone brassinosteroid‐induced gene regulation by the transcription factor BIL1/BZR1 involves redox‐dependent DNA‐binding alternation and interaction with the transcription factor PIF4. The reduced BIL1/BZR1 dimer binds preferred cis‐elements, while oxidation alters its oligomerization state and disrupts DNA‐binding ability.
Shohei Nosaki +4 more
wiley +1 more source
Population medical genetics: translating science to the community
Genetics and Molecular Biology, 2019 Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients.
Roberto Giugliani +21 more
doaj +1 more source
The role of the genetic counsellor: a systematic review of research evidence [PDF]
, 2014 In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and ...
B Meiser +27 more
core +1 more source