Mutations and polymorphisms - Biotech, Pharma and Life Science Channel
PubMed Articles
Base excision repair (BER) pathway plays critical role in maintaining genome integrity. Polymorphisms in BER genes which modulate the DNA repair capacity may affect the susceptibility and prognosis of...
p73 gene shares structural and functional similarities to p53 and plays an important role in modulating cell cycle arrest and apoptosis. A common non-coding polymorphism of p73 G4C14-to-A4T14 (rs22739...
CYP2A6, CYP1A1, and CYP2D6 polymorphisms in lung cancer patients from Central South China.
Lung cancer is a common cause of cancer-related death. The link between risk of lung cancer susceptibility and genetic polymorphisms in metabolic enzymes is well documented. In this study, the relatio...
EGFR Tyrosine Kinase Inhibitors: Difference in Efficacy and Resistance.
Lung cancer will be diagnosed in 230,000 patients in the U.S. in 2013. Adenocarcinoma will be the most common histology, and 10 % of lung cancers will be diagnosed in never or former light smokers. T...
BACKGROUND: Statins are among the most prescribed drugs worldwide to reduce the risk of cardiovascular events. Interindividual variability in drug response is a major clinical problem and is of concer...
Analysis of SYCP3 encoding synaptonemal complex protein 3 in human aneuploidies.
OBJECTIVES: To test the hypothesis that mutations of SYCP3 encoding synaptonemal complex protein 3, result in increased frequency of aneuploidies in humans. METHODS: Mutation analysis of the PCR-ampli...
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (GLA) activity. Enzyme replacement therapy (ERT) for FD is available, and newborn mass screeni...
Acute myeloid leukemia (AML) is a clinically heterogeneous disease, with a 5-year disease-free survival (DFS) ranging from under 10% to over 70% for distinct groups of patients. At our institution, cy...
Analysis of genetic variants of dyslexia candidate genes KIAA0319 and DCDC2 in Indian population.
Developmental dyslexia (DD) is a heritable, complex genetic disorder associated with impairment in reading and writing skills despite having normal intellectual ability and appropriate educational opp...
News Articles
In the largest clinical trial to date to examine the efficacy of PARP inhibitor therapy in BRCA 1/2 carriers with diseases other than breast and ovarian cancer, the oral drug olaparib was found to be...
Mutations and prognosis in primary myelofibrosis
How Will Angelina Jolie Affect Your Practice?
By Celebrity Diagnosis Have the phone calls already started? With the announcement on Tuesday that Angelina Jolie had undergone a prophylactic double mastectomy because she carries the BRCA1 gene, th...
New GWA can pose major ethical problems if used incorrectly, say ESHG recommendations
The use of genome-wide analysis, where the entirety of an individual's DNA is examined to look for the genomic mutations or variants which can cause health problems is a massively useful technology fo...
Ten-Year Study Shows 2 Different Genetic Polymorphisms Predict Weight Gain In Men And Women
New research presented at this year's European Congress on Obesity (ECO) in Liverpool, UK, shows that while the FTO genetic variation predicts weight gain over 10 years in men, a different variation o...
Researchers Discover Master Regulator That Drives�Majority Of Lymphoma
New Findings Show Inhibiting Powerful Protein with New Agents May Supply Broad Benefit for Lymphoma Patients A soon-to-be-tested class of drug inhibitors were predicted to help a limited number of pat...
[News] Molecular mutations in atypical chronic leukaemia
New research has identified a genetic driver common to atypical chronic myeloid leukaemia (aCML) and chronic neutrophilic leukaemia (CNL).
Molecular Profiling Timely For Tailoring Cancer Therapy
A clinical trial has shown that patients, and their physicians, are eager to jump into next-era cancer care - analysis of an individual's tumor to find and target genetic mutations that drive the canc...
Novel and Recurrent AAGAB Mutations: Clinical Variability and Molecular Consequences
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Companies
With the advent of new technologies, in the last four years, DNA sequencing has gone through a technological revolution which has completely changed the market. While in 2007 it still cost over 10 m...
Transnetyx is your molecular diagnostics company. Our automated genotyping service screens for transgenic, knock-out, and knock-in mutations in biopsies. We replace traditional genotyping with high th...
Horizon Discovery is a translational genomics company founded in June 2007 and is headquartered at the Babraham Research Campus, Cambridge, UK and with additional research laboratories in Torino, It...
Advances in genome sequencing and the growing understanding of disease processes have resulted in a glut of potential new drug targets that remain to be explored and validated. While high throughput...
Clinical Trials
Background: - BRCA1 and BRCA2 gene mutations have been linked to a higher risk of developing breast cancer and other cancers, and may be associated with types of breast cancer that are mo...
The Impact of Genotype on Plasma and Cerebral Spinal Fluid Pharmacokinetics of Celecoxib in Children
Background: Celecoxib is effective for reducing postoperative pain in adults. Children use celecoxib more rapidly than adults and require higher doses. Celecoxib is partially metabolized...
Impact of Hot Flashes on Sleep and Mood Disturbance
We plan to enroll 60 healthy, non-pregnant premenopausal women age 18-45 who do not have hot flashes (in order to have 30 women complete all study procedures) in a trial investigating the...
Single-Dose Postpartum Vitamin A Supplementation of Mothers and Neonates
The ZVITAMBO PROJECT is testing whether giving mothers and infants a single large dose of vitamin A during the immediate post partum period will reduce: 1. Infant Mortality Can oral adm...
The Adult Antiretroviral Treatment and Resistance Study (Tshepo)
The "Adult Antiretroviral Treatment and Resistance Study," hereafter referred to as "The Tshepo Study," is the first large-scale research study of antiretroviral therapy to treat AIDS and...
Hypothesis Nevirapine resistance developed in women and infants in the HIVNET 006 and 012 cohorts as a consequence of use of an agent with a long t½ as monotherapy in individuals with hi...
Although SLE and RA are correlated with genetic predisposing factors such as human leukocyte antigen (HLA) class II, both diseases and other genetic factors might have contributed to the d...
Genetic Determinants of the Bronchodilatation Effect of Albuterol ex-Vivo
The role played by ß2AR polymorphisms in determining the bronchial response to ß2AR agonist drugs, has been confirmed by several studies. The purpose of the present study is to examine...
Lopinavir/r Monotherapy as Maintenance Therapy After Long Term Viral Suppression
1. Objectives Primary - To investigate the possibility of maintaining virological suppression of HIV in infected patients, switching them to LPV/r as the only antiretro...
Safety and Efficacy Study of Antisense Oligonucleotides in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD), a fatal muscle degenerative disorder, arises from mutations in the dystrophin gene. Antisense therapy with the use of antisense oligonucleotides (AON) ha...
Videos
A New Look at Peripheral Tolerance, or, Good Genes Behaving Badly
Air date: Wednesday, March 14, 2012, 3:00:00 PM Time displayed is Eastern Time, Washington DC Local Category: Wednesday Afternoon Lectures Description: Under...
Medical and Biotech [MESH] Definitions
Thyroid Hormone Receptors Beta
High affinity receptors for THYROID HORMONES, especially TRIIODOTHYRONINE. These receptors are usually found in the nucleus where they regulate DNA transcription. They are encoded by the THRB gene (also known as NR1A2, THRB1, or ERBA2 gene) as several isoforms produced by alternative splicing. Mutations in the THRB gene cause THYROID HORMONE RESISTANCE SYNDROME.
Mental Retardation, X-linked
A class of genetic disorders resulting in mental retardation that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS).
Coffin-lowry Syndrome
A rare, X-linked mental retardation syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.
Poly(a)-binding Protein Ii
A poly(A) binding protein that is involved in promoting the extension of the poly A tails of MRNA. The protein requires a minimum of ten ADENOSINE nucleotides in order for binding to mRNA. Once bound it works in conjunction with CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR to stimulate the rate of poly A synthesis by POLY A POLYMERASE. Once poly-A tails reach around 250 nucleotides in length poly(A) binding protein II no longer stimulates POLYADENYLATION. Mutations within a GCG repeat region in the gene for poly(A) binding protein II have been shown to cause the disease MUSCULAR DYSTROPHY, OCULOPHARYNGEAL.
Muscular Dystrophy, Oculopharyngeal
An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy.
