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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.
Cancer cells can have thousands of mutations in their DNA. However, only a handful of those actually drive the progression of cancer; the rest are just along for the ride.
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...
Identification of missense mutations in the PCP4 and CD109 genes to validate the effect of neutral genetic markers
immune response local sheep genomics genome-wide association
2016/8/1
The marker-assisted selection exploits anonymous genetic markers that have been associated with measurable differences on complex traits. Because it is based on the linkage disequilibrium (LD) between...
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...
Penn Vet-Temple Team Characterizes Genetic Mutations Linked to a Form of Blindness
Penn Vet-Temple Team Characterizes Genetic Mutations Linked Blindness
2015/10/13
Achromatopsia is a rare, inherited vision disorder that affects the eye’s cone cells, resulting in problems with daytime vision, clarity and color perception. It often strikes people early in life, an...
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...
Genetic variation at RYR1, IGF2, FUT1, MUC13, and KPL2 mutations affecting production traits in Chinese commercial pig breeds
China commercial pig breed genetic variation economically important markers
2015/6/24
The identification of causative mutations affecting economically important traits has benefited the worldwide pig industry. We investigated the genetic variation at five loci including RYR1, IGF2, FUT...
Association analysis of PPARGC1A mutations with meat quality parameters in a commercial hybrid pig population
association analysis carcass composition meat quality pig PPARGC1A SNP
2015/6/8
Peroxisome proliferator-activated receptor γ coactivator 1α (PPARGC1A) is a promising candidate gene for selection on meat and carcass quality traits in the pig industry. In the pig, several SNPs have...
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...
Identification of Recently Selected Mutations Driven by Artificial Selection in Hanwoo (Korean Cattle)
Hanwoo Signatures of Selection SNP
2016/5/11
Hanwoo have been subjected over the last seventy years to intensive artificial selection with the aim of improving meat production traits such as marbling and carcass weight. In this study, we perform...
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...