Using mouse models to dissect the genetics of obesity

GA Brockmann, MR Bevova - TRENDS in Genetics, 2002 - cell.com
Mice have proved to be powerful models for understanding obesity in humans and farm
animals. Single-gene mutants and genetically modified mice have been used successfully to …

[PDF][PDF] Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP

…, CC van Diemen, AJ Monsuur, M Bevova… - The American Journal of …, 2008 - cell.com
The two main phenotypes of inflammatory bowel disease (IBD)—Crohn's disease (CD) and
ulcerative colitis (UC)—are chronic intestinal inflammatory disorders with a complex genetic …

Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect

…, PIW Bakker, BZ Alizadeh, A Zhernakova, MR Bevova… - Nature …, 2005 - nature.com
Celiac disease is probably the best-understood immune-related disorder. The disease presents
in the small intestine and results from the interplay between multiple genes and gluten, …

[PDF][PDF] Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune …

A Zhernakova, BZ Alizadeh, M Bevova… - The American Journal of …, 2007 - cell.com
Recently, association of celiac disease with common single-nucleotide polymorphism (SNP)
variants in an extensive linkage-disequilibrium block of 480 kb containing the KIAA1109, …

[PDF][PDF] Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity

…, S Blaser, J Raiman, PJW Pouwels, MR Bevova… - The American Journal of …, 2013 - cell.com
Inherited white-matter disorders are a broad class of diseases for which treatment and
classification are both challenging. Indeed, nearly half of the children presenting with a …

Associations with tight junction genes PARD3 and MAGI2 in Dutch patients point to a common barrier defect for coeliac disease and ulcerative colitisAn unusual case …

…, AA van Bodegraven, RK Weersma, MR Bevova… - Gut, 2008 - gut.bmj.com
Background: Coeliac disease (gluten-sensitive enteropathy; GSE) and inflammatory bowel
disease (IBD) are common gastrointestinal disorders. Both display enhanced intestinal …

[PDF][PDF] Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2-and L-2-hydroxyglutaric aciduria

…, M Kranendijk, SJM van Dooren, MR Bevova… - The American Journal of …, 2013 - cell.com
The Krebs cycle is of fundamental importance for the generation of the energetic and
molecular needs of both prokaryotic and eukaryotic cells. Both enantiomers of metabolite 2-…

Direct chromosome-length haplotyping by single-cell sequencing

…, M Hills, DCJ Spierings, MR Bevova… - Genome …, 2016 - genome.cshlp.org
Haplotypes are fundamental to fully characterize the diploid genome of an individual, yet
methods to directly chart the unique genetic makeup of each parental chromosome are lacking. …

[HTML][HTML] The new coronavirus COVID-19 infection

MR Bevova, SV Netesov, YS Aulchenko - … Genetics, Microbiology and …, 2020 - Springer
In December 2019, the first cases of pneumonia of unknown etiology were found in Wuhan (China).
Later, the pneumonia was associated with a new coronavirus; in February 2020, the …

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

…, MJ Sobrido, MR Bevova, S Jain, M Bugiani… - The Cerebellum, 2015 - Springer
Hereditary ataxias are clinically and genetically heterogeneous neurodegenerative
disorders. Although many ataxia genes have been identified, about 50% of cases await the …