OBJECTIVE Noonan syndrome is a clinically homogeneous but genetically heterogeneous condition. Type 1 Noonan syndrome is defined by the presence of a mutation in the PTPN11 gene, which is found in approximately 40% of the cases. Phenotype descriptions and cardiac defects from cohorts with Noonan syndrome were delineated in the "pregenomic era." We report the heart defects and links to gene dysf...

Protein S deficiency is a recognized risk factor for venous thrombosis. Of all the inherited thrombophilic conditions, it remains the most difficult to diagnose because of phenotypic variability, which can lead to inconclusive results. We have overcome this problem by studying a cohort of patients from a single center where the diagnosis was confirmed at the genetic level. Twenty-eight index pa...

Spleen cells from MRL-lpr and B6-lpr mice have a marked defect in the ability to produce interleukin 2 (IL-2) in response to concanavalin A stimulation. This defect precedes the onset of clinical illness, increases with age, and eventually becomes virtually absolute. It is not due to cellular suppression of IL-2 production, nor does it reflect the presence of a soluble inhibitor of IL-2 activit...

Background: Progressive familial intrahepatic cholestases (PFIC) are a spectrum of autosomal progressive liver diseases developing to end-stage liver disease. ATP8B1 deficiency caused by mutations in ATP8B1 gene encoding a P-type ATPase leads to PFIC1. The gene for PFIC1 has been mapped on a 19-cM region of 18q21-q22, and a gene defect in ATP8B1 can cause deregulations in bile salt transporters...

Limb Girdle Muscular Disease (LGMD) comprise a group of inherited muscular distrophy with chronic progressive weakness hip and shoulder girdles. The inheritance pattern is either autosomal dominant (LGMD1) or recessive (LGMD2). LGMD 2A known as calpainopathy in which there was defect gene encoding the protein named calpain. There are three phenotypes according to distribution muscle age at onse...

Background & Aims: Vesicoureteral Reflux (VUR) is a congenital defect of the urinary tract which has been reported in approximately 1% of children. Several immunological and genetic factors are listed as major causes of this problem. The C825T polymorphism of the GNB3 gene is among the genetic factors that may be involved in the development or progression of the disease. Participatory role o...

duchene and becker muscular dystrophy (dmd and bmd) are x-linked conditions that result from a defect in the dystrophin gene located on xp21. dmd is the most frequent neuromuscular disease in humans (1/3500 male newborns). in approximately 65% of dmd and bmd patients, deletions in the dystrophin gene have been identified as the molecular determinant. population-based variations in frequency and...

muscle biopsy interpretation has been revolutionized by ihc. immunohistochemistry now has an essential role in the evaluation of the muscle biopsies and in examining proteins localizations. advances in the characterization of sarcolemmal proteins and recognition that defects in the genes encoding such proteins may lie at the heart of the multiple differing forms of muscular dystrophy have been ...