Researchers from Broad Institute Inc. and affiliated organizations have reported data from a study that highlighted a new variant-to-gene-to-program (V2G2P) approach designed to link variants from genome-wide association studies (GWAS) to genes and identify their convergence onto specific disease-associated transcriptional programs.
Bleeding of unknown cause is a group of rare disorders that are still difficult to accurately diagnose. A case report on a patient with hematoma in the perineal region after her first delivery was presented.
The rare hereditary fibrinogen disorder hypodysfibrinogenemia is characterized by fibrinogen defects, which can cause thrombotic and hemorrhagic phenotypes that are not always predicted by routine coagulation tests. Researchers from Academic Hospital Maastricht aimed to characterize the genetic profile of a family with hypodysfibrinogenemia and predict bleeding and/or thrombotic phenotypes in asymptomatic family members using innovative testing.
Bleeding of unknown cause (BUC) is a diagnosis of exclusion, and it is common for these patients to have congenital platelet function disorders. Whole-exome sequencing may help reach a more accurate diagnosis in these cases.
Researchers from China Medical University (Taiwan) and affiliated organizations have published results from a study that aimed to identify generic variants within the phosphoinositide 3-kinase (PI3K)/AKT signaling pathway that could represent novel biomarkers in patients with prostate cancer.
Second Affiliated Hospital of Wenzhou Medical University investigators have assessed the functions of FBXO28 on proliferation, migration and invasion in ovarian cancer.
Phyllodes tumors (PTs) are rare, fibroepithelial tumors of the breast that can arise as benign, borderline or malignant. Little is known about the molecular mechanisms behind their occurrence, and it is easy to misdiagnose them as other histologically similar tumors, such as metaplastic breast cancer. It was hypothesized that DNA methylation could be a helper here.
Japanese researchers have presented data from the biggest Asian genome-wide association study (GWAS) regarding susceptibility loci for systemic sclerosis (SSc), comprising a total of 1,428 cases and 112,599 controls and with an imputation reference panel containing more than 3,000 Japanese whole-genome sequencing data.
Bone morphogenetic protein 9 (BMP-9), also known as growth/differentiation factor 2, is a member of the transforming growth factor-β family of cytokines, which exerts its biological effects through binding to a complex formed by ALK1 and BMPR2.
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