A new immune syndrome identified

Exome sequencing identified new mutations in a Marfan syndrome family

UNLABELLED Marfan syndrome is a common autosomal dominant hereditary connective tissue disorder. There is no cure for Marfan syndrome currently. Next-generation sequencing (NGS) technology is efficient to identify genetic lesions at the exome level. Here we carried out exome sequencing of two Marfan syndrome patients. Further Sanger sequencing validation in other five members from the same fami...

An Overview of The Globozoospermia as A Multigen-ic Identified Syndrome

Acrosome plays an integral role during fertilization and its absence in individuals with globozoospermia leads to failure of in vitro fertilization (IVF) and oocyte activation post-intracytoplasmic sperm injection (ICSI). A variety of processes, organelles and structures are involved in acrosome biogenesis including, trans-Golgi network (TGN), acroplaxome and cellular trafficking. This review a...

New Anti - HIV Proteins Identified

New asthma susceptibility gene identified

Hyperplastic Polyposis Syndrome Identified with a BRAF Mutation

Hyperplastic polyposis syndrome (HPS) is a rare condition characterized by the presence of numerous hyperplastic polyps (HPs) in the colon and rectum. Patients with HPS have an increased risk of colorectal cancer. This link is associated with gene mutations, especially B type Raf kinase (BRAF). However, a case of HPS associated with gene mutations has seldom been reported in Korea. Here, we des...