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The Basser Center for BRCA at Penn Medicine is the first comprehensive center for the research, treatment, and prevention of BRCA-related cancers.
Yale scientists edit gene mutations in inherited form of anemia
Yale scientists edit gene mutations inherited form anemia
2016/11/4
A Yale-led research team used a new gene editing strategy to correct mutations that cause thalassemia, a form of anemia. Their gene editing technique provided corrections to the mutations and alleviat...
Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding protein
Retinol binding protein transthyretin retinol retinyl esters
2016/5/31
Two German sisters aged 14 and 17 y were admitted
to the Tübingen eye hospital with a history of night blindness.
In both siblings, plasma retinol binding protein (RBP) concentrations
were below th...
Mutations in the gene encoding retinol binding protein and retinol deficiency: is there compensation by retinyl esters and retinoic acid?
retinyl esters retinoic acid
2016/5/31
Biesalski et al (1) present a novel case of 2 sisters aged 14 and
17 y with very low plasma retinol concentrations (0.19 mmol/L)
and plasma concentrations of retinol binding protein (RBP) below
the...
Mathematical ‘Gingko trees’ reveal mutations in single cells that characterize diseases（图）
Mathematical Gingko trees single cells characterize diseases
2015/9/18
Seemingly similar cells often have significantly different genomes. This is often true of cancer cells, for example, which may differ one from another even within a small tumor sample, as genetic muta...
Informatics Approaches to Linking Mutations to Biological Pathways, Networks and Clinical Data
Networks Linking Mutations Biological Pathways
2015/5/26
The information gained from sequencing of the human genome has begun to transform human biology and genetic medicine. The discovery of functionally important genetic variation lies at the heart of the...
Genetic testing is a useful means of identifying individuals who
are at an increased risk of developing familial cancer. This
information assists such individuals to make lifestyle alterations
and ...
The Association of Coagulation Factor V (Leiden) and Factor II (Prothrombin) Mutations With Stroke
Stroke Population Incidence
2015/10/15
Background: Epidemiological studies indicate that over the past forty years, the stroke incidence rates has increased. Factors V and II mutations are established genetic-variant risk factors for venou...
Molecular Analyses of Early-Onset Gastric Cancer in Brazilian Patients: TP53 Mutations, Cadherin-Catenin and Mucins Proteins Expression
Early-Onset Gastric Cancer Young Patients Cellular Adhesion TP53 Mutations
2013/1/29
Early gastric carcinomas may develop with a molecular profile differing from sporadic carcinomas occurring at a later age. In this study, we analyzed a retrospective series of 88 patients with gastric...
High Prevalence of Rare Mutations in the Beta Globin Gene in an Ethnic Group in Iran
High Prevalence Rare Mutations Beta Globin Gene Ethnic Group in Iran
2015/9/23
Beta Thalassemia major is a genetic disease with an autosomal recessive pattern and is differentiated by severe microcytic hypochromic hemolytic anemia with hepatosplenomegaly, ineffective erythropoie...
Missense and Nonsense Mutations of P53 Gene in Patients with Colorectal Adenocarcinoma in Isfahan,Central Iran
Missense Nonsense Mutations Patients Colorectal Adenocarcinoma Isfahan Central Iran
2015/9/22
The colorectal cancer is the forth prevalent cancer worldwide. The incidence and mortality of colorectal cancer (CRC) in men and women has been estimated more than 1.233 million cases and nearly 61000...
Mutations at C-terminal domain of pbp5 gene among high level ampicillin resistant isolates of E.faecium in Iran
Enterococcus faecium Ampicillin resistance Penicillin binding protein Nosocomial infections
2009/12/15
Background and the purpose of the study: The low affinity penicillin-binding protein (PBP) 5 of Enterococcus faecium is responsible for intrinsic resistance to beta-lactam antibiotics. This study was ...
Tumor mutations can predict chemo success--Genetic profiling of tumors could have 'immediate impact' on treating cancer, study shows
tumor mutations chemo success immediate impact cancer
2009/8/10
New work by MIT cancer biologists shows that the interplay between two key genes that are often defective in tumors determines how cancer cells respond to chemotherapy.The findings should have an imme...
Analysis of K-Ras Oncogene Codon 12 Mutations in a Series of Human Lung Cancers
K-ras codon 12 mutations on small cell lung cancers
2009/6/30
Lung cancer is the major cancer in Turkey; 45% of the deaths due to cancer in Turkish males are from lung cancer. There are 8 histopathological types of lung cancer, and most types have several genomi...
Oligotriche and quaking gene mutations. Phenotypic effects on mouse spermatogenesis and testicular steroidogenesis
Oligotriche quaking gene mutations Phenotypic effects mouse spermatogenesis testicular steroidogenesis
2009/2/10
The phenotypic actions of the oligotriche gene mutation on testicular function have not been elucidated, although it is known that male mice homozygous for the mutation are infertile. In the present...