Identification of novel therapeutic targets is the first step in drug development journey, and traditionally relies on deep understanding biology, a process which lengthy non-scalable. The advent high-throughput screening advanced machine learning methods enables rapidly uncovering even where biology not yet well understood. This, turn, allows expansion universe reach current compounds. Using C...

ABSTRACTTuberculosis is an infectious disease which occurs widely in the world and becomes one of the top 10 causes of death worldwide. Mutations of the RpoB gene cause the resistance of Mycobacterium tuberculosis to rifampicin that contributes to the occurrence of MDR-TB. This study aimed to determine the pattern of rpoB gene polymorphisms in the MDR M. tuberculosis in Semarang, Indonesia. Mos...

absract gastric cancer is the fourth most common cancer and the second leading cause of cancer death. most cases are sporadic and only 10% of patients, show familial clustering. among these patients, 1 to 3 % have hereditary diffuse gastric cancer (hdgc), which is autosomal-dominant and present in younger ages. mutations in ecadherin gene cdh1 has been identified in 30 to 50% of patients. becau...

background and objectives: the aim of this study was to investigate the significance of multiple-mutations in the katg gene, predominant nucleotide changes and its correlation with high level of resistance to isoniazid in mycobacterium tuberculosis isolates that were randomly collected from sputa of 42 patients with primary and secondary active pulmonary tuberculosis from different geographic r...

Cutaneous human papillomavirus (HPV) infection typically manifests with isolated warts. However, some patients in familial clustering develop extensive and protracted HPV infections, primarily the β-HPV types 5 8, distinct cutaneous findings. This clinical entity, epidermodysplasia verruciformis (EV), autosomal recessive inheritance, is characterized by numerous flat warts childhood, which prog...

Objective: Primary aldosteronism (PA) is the most common form of secondary and curable hypertension, with a prevalence 5% in primary care 10% referred patients. Different germline somatic mutations are found aldosterone producing adenoma (APA) familial forms disease, while causes bilateral adrenal hyperplasia (BAH) remain largely unknown. Adrenalectomy recommended treatment for patients aldoste...

BACKGROUND AND OBJECTIVE Genetic testing for germ line mutations in the BRCA1 and BRCA2 genes for some families at high risk for breast and/or ovarian cancer may yield negative results due to unidentified mutations or mutations with unknown clinical significance. We aimed to accurately determine the prevalence of mutations in these genes in an Asian clinic-based population by using a comprehens...

PURPOSE To investigate the spectrum of mitochondrial DNA (mtDNA) mutations in Chinese patients with Leber's hereditary optic neuropathy (LHON), optic atrophy of unknown etiology, and optic neuropathy of known etiology. METHODS Twenty-seven patients from 25 LHON pedigrees, 22 patients with bilateral optic atrophy of unknown etiology, 21 patients with optic neuropathy of known etiology, and 25 ...

Cutaneous human papillomavirus (HPV) infection typically manifests with isolated warts. However, some patients in familial clustering develop extensive and protracted HPV infections, primarily the β-HPV types 5 8, distinct cutaneous findings. This clinical entity, epidermodysplasia verruciformis (EV), autosomal recessive inheritance, is characterized by numerous flat warts childhood, which prog...

Alpha-thalassemia (α-thal) is probably the most prevalent monogenic condition in the world. Deletions are the most common types of mutations in α-thal, followed by point mutations and small insertion/deletion. In the context of national screening program for prevention of thalassemia and hemoglobinopathies in Iran, α-thal carriers have come to more attention. Therefore, the fr...