Advertisement

Topics

A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard-Soulier syndrome: case report.

07:00 EST 27th February 2018 | BioPortfolio

Summary of "A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard-Soulier syndrome: case report."

We need to be aware of rare causes of persistent thrombocytopenia as Bernard-Soulier syndrome (BSS). When BSS is suspected based on family history and giant platelets, genetic test for mutations of GPIbIXV is necessary. Management varies once you recognize the cause. Platelets transfusion and antifibrinolytics are the mainstay of therapy.

Affiliation

Journal Details

This article was published in the following journal.

Name: Clinical case reports
ISSN: 2050-0904
Pages: 686-689

Links

DeepDyve research library

PubMed Articles [11255 Associated PubMed Articles listed on BioPortfolio]

Louis Pasteur and Claude Bernard: about a posthumous controversy.

Claude Bernard and Louis Pasteur will meet on various occasions, scientific prizes were awarded by Claude Bernard to Louis Pasteur, Claude Bernard's lessons were followed by Louis Pasteur at the Facul...

Clinical and Molecular Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy.

Point mutations in the peripheral myelin protein 22 (PMP22) gene have been identified to cause demyelinating Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to pressure pals...

High mutation rates limit evolutionary adaptation in Escherichia coli.

Mutation is fundamental to evolution, because it generates the genetic variation on which selection can act. In nature, genetic changes often increase the mutation rate in systems that range from viru...

Hotspots of De Novo Point Mutations in Induced Pluripotent Stem Cells.

Induced pluripotent stem cells (iPSCs) are generated by direct reprogramming of somatic cells and hold great promise for novel therapies. However, several studies have reported genetic variations in i...

Claude Bernard - then and now.

The early life of Claude Bernard - dreamer and frustrated playwright - reveals no indication of his future scientific aptitude. Cartesian doubt, a principle that he would adhere to lifelong, cloud...

Clinical Trials [3917 Associated Clinical Trials listed on BioPortfolio]

Targeted Therapy in Treating Patients With Incurable Non-Small Cell Lung Cancer With Genetic Mutations

This phase II trial studies how well targeted therapy works in treating patients with incurable non-small cell lung cancer with a genetic mutation. Giving drugs that target other genetic m...

The BARCODE 2 Study - The Use of Genetic Profiling to Guide Prostate Cancer Treatment

Prostate cancer (PrCa) is one of the commonest cancer in men in the Western world, with over 40,000 new cases diagnosed each year in the United Kingdom (UK). Research studies have identifi...

Clinical, Molecular and Metabolic Characteristics of Parkinson's Disease (PD) Patients With Parkin Mutation

Parkinson's disease is a frequent neurodegenerative disorder. Genetic forms of the disease have been recently identified. The monogenic form due to parkin mutation is responsible for many ...

Written Genetic Counseling and Mutation Analysis of BRCA1 and BRCA2 to Patients With Breast Cancer

The overall purpose of the study is to evaluate a method for offering mutation analysis of BRCA1 and BRCA2 to all patients with newly diagnosed breast cancer, regardless of age at diagnosi...

ReAssessment of Anti-Platelet Therapy Using an InDividualized Strategy Based on GENetic Evaluation

The objective of the RAPID GENE study is to evaluate the feasibility, efficacy and safety of a pharmacogenomic approach to anti-platelet therapy following coronary artery stenting using a ...

Medical and Biotech [MESH] Definitions

Platelet membrane glycoprotein complex essential for normal platelet adhesion and clot formation at sites of vascular injury. It is composed of three polypeptides, GPIb alpha, GPIb beta, and GPIX. Glycoprotein Ib functions as a receptor for von Willebrand factor and for thrombin. Congenital deficiency of the GPIb-IX complex results in Bernard-Soulier syndrome. The platelet glycoprotein GPV associates with GPIb-IX and is also absent in Bernard-Soulier syndrome.

A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.

The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.

Genes that have a suppressor allele or suppressor mutation (SUPPRESSION, GENETIC) which cancels the effect of a previous mutation, enabling the wild-type phenotype to be maintained or partially restored. For example, amber suppressors cancel the effect of an AMBER NONSENSE MUTATION.

Advertisement
Quick Search
Advertisement
Advertisement

 


DeepDyve research library

Relevant Topic

Blood
Blood is a specialized bodily fluid that delivers necessary substances to the body's cells (in animals) – such as nutrients and oxygen – and transports waste products away from those same cells.  In vertebrates, it is composed of blo...


Searches Linking to this Article