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Articles on Phenotype
DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria.
We studied two individuals with 2-aminoadipic and 2-oxoadipic aciduria, a metabolic condition that is still unresolved at the molecular level. This disorder has been associated with varying neurological symptoms. Exome sequencing of a single affected individual revealed compound heterozygosity for a...
AtMYB61, an R2R3-MYB transcription factor, functions as a pleiotropic regulator via a small gene network.
Throughout their lifetimes, plants must coordinate the regulation of various facets of growth and development. Previous evidence has suggested that the Arabidopsis thaliana R2R3-MYB, AtMYB61, might function as a coordinate regulator of multiple aspects of plant resource allocation. U...
Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas.
Patients with multiple colorectal adenomas may carry germline mutations in the APC or MUTYH genes. To determine the prevalence of pathogenic APC and MUTYH mutations in patients with multiple colorectal adenomas who had undergone genetic testing and to compare the prev...
The finger of an angel: memory return with epigenetic manipulation.
Scientists have been trying to crack the memory code for hundreds of years; however, centuries later, even the simplest elements of memory formation are still not fully understood. Recent studies in epigenetics indicate neuronal activity can induce transient reprogramming of epigenetic codes required...
Insulin-like growth factor binding protein-3 inhibits migration of endometrial cancer cells.
We have shown that the rate of EC cell migration is inversely related to the level of insulin-like growth factor protein-3 (IGFBP-3). Down-regulation of IGFBP-3 by siRNA in EC cells accelerated migration without affecting proliferation and cells displayed a more migratory phenotype, with co-localiza...
Monogenic mitochondrial disorders.
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literatur...
We report on a family with features of TBS in whom a novel 149 kb deletion spanning the SALL1 gene was identified by high resolution cytogenetics SNP microarray. We review the available genotype-phenotype information for all known truncating mutations and deletions. Taken together, they do not sup...
Characterization of the phenotype and functionality of corneal epithelial cells derived from mouse embryonic stem cells.
To investigate the optimum conditions for the differentiation of a mouse embryonic stem cell line towards corneal epithelial cell fate.
Founder effects persist despite adaptive differentiation: a field experiment with lizards.
We conducted an experiment in which brown anole (Anolis sagrei) lizard populations were established on seven small islands in the Bahamas, from male-female pairs randomly drawn from the same large-island source. These founding events generated significant among-island genetic and morphological diffe...
Sickle cell disease subphenotypes in patients from southwestern province of saudi arabia.
We studied 159 patients with SCD to better characterize its phenotype in the SW Province, where patients usually have a HBB haplotype of African origin. All cases had history and examination, chart review, and laboratory testing. Blood tests were obtained during steady state and included: complete b...