OBJECTIVE Charcot-Marie-Tooth disease type X1 (CMTX1), which is caused by mutations in the gap junction (GJ) protein beta-1 gene (GJB1), is the second most common form of Charcot-Marie-Tooth disease (CMT). GJB1 encodes the GJ beta-1 protein (GJB1), which forms GJs within the myelin sheaths of peripheral nerves. The process by which GJB1 mutants cause neuropathy has not been fully elucidated. Th...

BACKGROUND Serum carcinoembryonic antigen (CEA) is often elevated in lung adenocarcinoma, but not in all patients. Meanwhile, epidermal growth factor receptor (EGFR) mutations and anaplastic lymphoma kinase (ALK) fusion protein are the main driving forces in lung adenocarcinoma. However, whether CEA levels are associated with histologic subtype, EGFR mutations, and ALK fusion remain largely unc...

BACKGROUND The clinical and pathological features of Alport syndrome are characterized by abnormalities in the basement membrane collagen network which are composed of the α3, α4 and α5 chains of type IV collagen and usually associated with hearing loss and ocular lesions. The predominant form (85% of AS) is inherited as X-linked mode (XLAS) caused by mutations encoding the α5 chain of type IV ...

Mutations in the BRCA1/2 genes are associated with an increased risk of breast cancer, but no large-scale research have examined the BRCA1/2 mutations in Chinese Kazakh women. We evaluated the frequency and distributions of BRCA1 and BRCA2 gene mutations in Kazakh sporadic breast cancer patients and healthy women in China. The association between the clinical-pathologic features of Kazakh breas...

The success of highly active antiretroviral therapy (HAART) is challenged by the emergence of resistance-associated mutations in human immunodeficiency virus-1 (HIV-1). In this study, resistance associated mutations in the reverse transcriptase (RT) and protease (PR) genes in antiretroviral therapy (ART) naïve and treated HIV-1 infected pediatric patients from North India were evaluated. Genoty...

mediator complex subunit 12 (med12) is a part of the mediator complex, which is believed to regulate transcription. med12 is mutated at high frequency and with different mutation frequencies in uterine fibroids and breast fibroadenomas of different populations. this study aimed to analyze med12 mutations in senegalese population. med12 was sequenced in the tumoral tissues and blood samples of s...

background: familial mediterranean fever (fmf) is an autosomal recessive genetic disorder characterized by recurrent episodes of self-limited fever and serosal tissues inflammation. methods: to evaluate clinical symptoms and common genetic mutations in southwestern iranian patients with fmf, 20 unrelated patients were enrolled in this study based on clinical criteria. a panel of 12 common mefv ...

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...

JAK2 V617F is the predominant driver mutation in patients with Philadelphia-negative myeloproliferative neoplasms (MPN). mutations are also frequent clonal hematopoiesis of indeterminate potential (CHIP) otherwise “healthy” individuals. However, period between acquisition and MPN diagnosis (known as latency) varies widely individuals, detectable several decades before even from birth some Here,...