The multisubunit Mediator (MED) complex bridges DNA-bound transcriptional regulators to the RNA polymerase II (PolII) initiation machinery. In yeast, the 25 MED subunits are distributed within three core subcomplexes and a separable kinase module composed of Med12, Med13 and the Cdk8-CycC pair thought to control the reversible interaction between MED and PolII by phosphorylating repeated heptap...

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...

The four proteins CDK8, cyclin C, Med12, and Med13 can associate with Mediator and are presumed to form a stable "CDK8 subcomplex" in cells. We describe here the isolation and enzymatic activity of the 600-kDa CDK8 subcomplex purified directly from human cells and also via recombinant expression in insect cells. Biochemical analysis of the recombinant CDK8 subcomplex identifies predicted (TFIIH...

PURPOSE Undifferentiated pleomorphic sarcoma (UPS) is defined as a sarcoma with cellular pleomorphism and no identifiable line of differentiation. It is typically a high-grade lesion with a metastatic rate of about one third. No tumor-specific rearrangement has been identified, and genetic markers that could be used for treatment stratification are lacking. We performed transcriptome sequencing...

PURPOSE Phyllodes tumors (PTs) of the breast are rare, accounting for less than 1% of all breast tumors. Among PTs, malignant PTs (MPTs) have malignant characteristics and distant metastases occur in about 20% to 30% of MPTs. However, there is no effective treatment for MPTs with distant metastasis, resulting in an abject prognosis. We performed targeted deep sequencing on PTs to identify the a...

Chronic lymphocytic leukemia (CLL) patients demonstrate a great deal of heterogeneity in their clinical course. Some can be monitored off therapy for many years, while others may require treatment shortly after CLL diagnosis. Several molecular prognostic factors associate with short time to first (TTFT), as well predict poor overall response and progression-free survival when using chemoimmunot...

neonatal diabetes mellitus (ndm) is a rare kind of diabetes characterized by hyperglycemia and low levels of insulin. clinically, it is categorized into two main types: transient ndm (tndm) and permanent ndm (pndm). these types are diagnosed based on duration of insulin dependence early in the disease. in tndm, diabetes begins in the first few weeks of life with remission in a few months. howev...

A fetal clenched hand with overlapping fingers is more common in aneuploidy syndrome and was not well-documented MED12 deficiency. This study reports the clinical genetic findings of three affected siblings from a Chinese family. The chromosome karyotype analysis diagram shows that karyotypes children were normal. Trio whole-exome sequencing Sanger verification found there R296Q variant normal ...

many factors including genetic, environmental, and acquired are involved in breast cancer development across various societies. among all of these factors in families with a history of breast cancer throughout several generations, genetics, like predisposing genes to develop this disease, should be considered more. early detection of mutation carriers in these genes, in turn, can play an import...