Mutations in G protein-coupled receptors (GPCRs) that increase constitutive signaling activity can cause human disease. A de novo C-terminal mutation (R1465W) in the adhesion GPCR BAI2 (also known as ADGRB2) was identified in a patient suffering from progressive spastic paraparesis and other neurological symptoms. In vitro studies revealed that this mutation strongly increases the constitutive ...

background: recently, botulinum neurotoxin (bont)-derived recombinant proteins have been suggested as potential botulism vaccines. here, with concentrating on bont type e (bont/e), we studied two of these binding domain-based recombinant proteins: a multivalent chimer protein, which is composed of bont serotypes a, b and e binding subdomains, and a monovalent recombinant protein, which contains...

background the x-linked cyclin-dependent kinase like 5 (cdkl5/stk9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy and severe developmental delay. cdkl5 mutations have been shown to be more frequent among female patients. results here we report a 6- month male patient, second child of a healthy non consanguineous in the irani...

Protein S is a glycoprotein essential in the regulation of blood coagulation. Familial protein deficiency increases risk venous thromboembolism approximately 2- to 11-fold. Herein, we report this disorder six members Vietnamese family among which three had thromboembolism, and other were asymptomatic. The levels ranged from 10.1% 24%, but did not identify any PROS1 mutation. In one patient, rar...

Hemophilia B Leyden is an X chromosome-linked bleeding disorder characterized by an altered developmental expression of blood coagulation factor IX. This form of hemophilia B has been found to be associated with a variety of single point mutations in the factor IX promoter region. We now describe a novel point mutation, T-->G at position -21, in two related patients with the hemophilia B Leyden...

background: serum levels of lipocalin 2 (lcn 2) and retinol-binding protein-4 (rbp 4), increase in type 2 diabetes mellitus (t2dm). we sought to determine whether serum lcn 2 and rbp 4 change after an intervention with omega-3 fatty acids supplementation in diabetic patients. methods: forty-five type 2 diabetic patients from iranian diabetic association in tehran, iran in 2013 were randomly rec...

objective(s): the periodic binding of protein expressed by mycobacterium tuberculosis h37rv with the host cell receptor molecules i.e. fibronectin (fn) is gaining significance because of its adhesive properties.  the genome sequencing of m. tuberculosis h37rv revealed that the proline-glutamic (pe) proteins contain polymorphic gc-rich repetitive sequences (pgrs) which have clinical importance i...

objective(s):psoriasis is an autoimmune disease that appears on the skin. although psoriasis is clinically and histologically well characterized, its pathogenesis is unknown in detail. the aims of this study were to evaluate the proteome of psoriatic patients' sera and to compare them with those of normal healthy human to find valuable biomarkers. materials and methods: in a case-control s...

PURPOSE To identify a novel pathogenic gene mutation present in a Chinese family with hereditary hemorrhagic telangiectasia (HHT) and to determine if an intron mutation may influence the transcriptional activity of the ACVRL1 gene. METHODS HHT family members were ascertained following the presentation of proband and involved subjects. All family members (n = 5) and 113 healthy individuals wer...

The emergence of new mutant strains of influenza virus like H1N1, H3N2, H1N9, H7N9, etc. in every season of flu is mainly due to frequent mutation in eight genes of flu virus. This cause influenza virus spreads worldwide and become pandemic in 2009. Every year 36000 peoples are infected from flu. Around 123397 people have been tested itself in India in 2010. Drug for influenza treatment now has...