Black Forest horses are typically chestnut colored with flaxen mane and tail. However, as their coat color can get very dark, they are sometimes also indicated as silver, a color depending on a black base color. To analyse if the silver allele is present in the Black Forest horse population, we genotyped 250 horses of this breed for formerly reported coat color mutations within MC1R and SILV. A...

The present study of KCNQ4 mutations was carried out to 1) determine the prevalence by unbiased population-based genetic screening, 2) clarify the mutation spectrum and genotype/phenotype correlations, and 3) summarize clinical characteristics. In addition, a review of the reported mutations was performed for better understanding of this deafness gene. The screening using 287 probands from unbi...

In India, mutations in Cytochrome P450 (CYP1B1) are a predominant cause of not only primary congenital glaucoma (PCG) but also involved in primary open angle glaucoma (POAG) and juvenile onset glaucoma (JOAG). After ethical clearance, 100 POAG patients, 30 primary angle closure glaucoma (PACG) patients and 130 ethnically matched controls were recruited in this study. Genomic DNA was is...

conclusions presence of drug resistance mutations among the patients was significant. precore mutations were common amongst iranian hbv chronic carriers under lamivudine therapy and these mutations were accompanied by clinical relapse. patients and methods sequential sera were obtained from 88 chronic hbv carriers who received lamivudine for more than 24 months. polymerase and precore regions w...

Purpose: Our previous study revealed that 90% [47 of 52; 95% confidence interval (CI), 0.79–0.96] of Chinese never-smokers with lung adenocarcinoma harbor known oncogenic driver mutations in just four genes EGFR, ALK,HER2, and KRAS. Here, we examined the status of known driver mutations specifically in female never-smokers with lung adenocarcinoma. Experimental Design: Tumors were genotyped for...

Cystic fibrosis (CF) is caused by mutations in the CFTR gene. More than 1600 mutations have been described, with frequencies that differ worldwide according to the ethnic origin of patients. A small group of mutations are recurrent on several populations. It has been shown that they each tend occur on specific chromosome 7 haplotypes, supporting the notion of a single origin for them. Less than...

The coronavirus disease 2019 (COVID-19) has persisted as a pandemic for just over two years; vaccines have been developed to prevent the clinical and treatment regimens improved upon, but severe acute respiratory syndrome 2 (SARS-CoV-2) appears be up task, coming with mutations resulting in multiple variants, alpha, beta, delta, Omicron so much more. most important recent one, omicron variant, ...

Myosin Vb (MYO5B) is a motor protein that facilitates trafficking and recycling in polarized cells by RAB11- RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified the majority of patients with microvillus inclusion disease (MVID). MVID an intractable diarrhea infantile onset characteristic histopathologic findings requires life-long parenteral nutrition or intestinal transplantati...

BACKGROUND To evaluate differences in the clinical characteristics and molecular pathology of lung adenocarcinoma subtypes as defined by the new International Association for the Study of Lung Cancer/American Thoracic Society/European Respiratory Society international histological classification. METHODS We retrospectively reviewed 269 patients with initial primary lung adenocarcinoma who had...