Recently added articles from Indian Journal of Human Genetics:
Bloom's syndrome in a 12-year-old Iranian girl
Sep 01, 2008; ... Introduction Bloom's syndrome (BS), also known as congenital telangiectatic erythema, was first described by Dr. David Bloom, a dermatologist, in 1954. [1] BS is an autosomal recessive inherited disorder caused by mutation in the BLM gene that is located on chromosome 15 (gene ...
The moroccan human mutation database
Sep 01, 2008; ... Sir, The mutation spectrum observed for any gene or disorder often varies between population groups. The settling of Morocco was marked by a great diversity. The main ethnic groups are the Berbers and Arabs, but there have also been currents of Phoenicians, Romans, Vandals, Byzantines, ...
National and ethnic human mutation database: A need of the day
Sep 01, 2008; ... Bioinformatics is a relatively new discipline. It is a field of science in which Computer science, Mathematics, Molecular biology and Information technology merges to form a single discipline. Database development, sequence alignment, protein structure prediction, RNA folding, evolutionary tree ...
Allelic variants of DYX1C1 are not associated with dyslexia in India
Sep 01, 2008; ... Introduction Developmental dyslexia is a hereditary neurological disorder that manifests as a persistent difficulty in learning to read and spell in children with otherwise normal intellectual functioning and educational opportunities. [1] Prevalence of dyslexia in school children has ...
Fc gamma receptor polymorphisms in systemic lupus erythematosus and their correlation with the clinical severity of the disease
Sep 01, 2008; ... Many cells feature membrane glycoproteins called Fc receptors (FcR) that have an affinity for the Fc portions of secreted antibody molecules. These receptors are responsible for the movement of antibodies across cell membranes and transfer of IgG from the mother to the fetus across the placenta ....
The CTLA4 -819 C/T and +49 A/G dimorphisms are associated with Type 1 diabetes in Egyptian children
Sep 01, 2008; ... Introduction Type 1 diabetes (T1D) is a genetically complex disorder of glucose homeostasis that results from autoimmune destruction of the insulin-secreting cells of the pancreas. The development of T1D likely results from exposure to environmental factors which interact with a number ...
Standardization of PCR-RFLP analysis of nsSNP rs1468384 of NPC1L1 gene
Sep 01, 2008; ... Introduction Niemann-Pick C1-like 1 (NPC1L1) protein, a newly identified sterol influx transporter, located at the apical membrane of the enterocyte, which may actively facilitate the uptake of cholesterol by promoting the passage of sterols across the brush border membrane of the ...
Apolipoprotein E gene polymorphism and dyslipidaemia in adult Asian Indians: A population based study from calcutta, India
Sep 01, 2008; ... Introduction Apolipoprotein E (apoE) plays a key role in the metabolism of cholesterol and triglyceride by serving as a receptor binding ligand mediating the clearance of chylomicron and remnants of very low-density lipoprotein cholesterol from plasma. [1],[2],[3],[4] Three different ...