A Giant Extracellular Matrix Binding Protein of Binds Surface-Immobilized Fibronectin via a Novel Mechanism.

Although it is normally an innocuous part of the human skin microbiota, has emerged as a major nosocomial pathogen, and implanted foreign materials are an essential risk factor for the development of an infection. The extraordinary efficiency of to colonize artificial surfaces is particularly related to the ability to form biofilms. Biofilm formation itself critically depends on stable pathogen binding to extracellular host matrix components, e.

Development of end-stage renal disease at a young age in two cases with Joubert syndrome.

Joubert syndrome (JS) is an autosomal recessive genetic disorder. To date, mutations in 20 genes of the genetically heterogeneous JS and JS-related disorders (JSRD) have been reported. Renal involvement occurs in 2-20% of JS cases.

Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.

Background: To evaluate clinical, genetic, and radiologic features of our patients with muscle-eye-brain disease.

Methods: The data of patients who were diagnosed with muscle-eye-brain disease from a cohort of patients with congenital muscular dystrophy in the Division of Pediatric Neurology of Dokuz Eylül University School of Medicine and Gaziantep Children's Hospital between 2005 and 2013 were analyzed retrospectively.

Results: From a cohort of 34 patients with congenital muscular dystrophy, 12 patients from 10 families were diagnosed with muscle-eye-brain disease.

Phenotypic spectrum associated with CASK loss-of-function mutations.

Background: Heterozygous mutations in the CASK gene in Xp11.4 have been shown to be associated with a distinct brain malformation phenotype in females, including disproportionate pontine and cerebellar hypoplasia.

Methods: The study characterised the CASK alteration in 20 new female patients by molecular karyotyping, fluorescence in situ hybridisation, sequencing, reverse transcriptase (RT) and/or quantitative real-time PCR.