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Targeted introduction of heritable point mutations into the plant mitochondrial genome
plant mitochondrial genome heritable ALEN-GDM mtDNA genome editing CRISPR-Cas
2023/11/28
The development of technologies for the genetic manipulation of mitochondrial genomes remains a major challenge. Here we report a method for the targeted introduction of mutations into plant mitochond...
The Basser Center for BRCA at Penn Medicine is the first comprehensive center for the research, treatment, and prevention of BRCA-related cancers.
Genomic studies of cancer patients have revealed thousands of mutations linked to tumor development. However, for the vast majority of those mutations, researchers are unsure of how they contribute to...
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.
Gene editing, or purposefully changing a gene’s DNA sequence, is a powerful tool for studying how mutations cause disease, and for making changes in an individual’s DNA for therapeutic purposes. A nov...
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
Schinzel-Giedion syndrome hematologic malignancies
2017/8/25
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo ger...
Portland State research shows some viruses can infect even after major mutations
Portland State research some viruses infect
2017/3/30
Portland State University researchers have found that only about half the genes in a specific virus affecting single cell organisms is needed to infect a host. This means the virus can undergo major m...
Model expands landscape for signaling protein mutations
Model expands landscape signaling protein
2016/11/4
Protein pairs that control stimulus response in bacteria maintain a sensitive balance between interaction specificity and promiscuity, according to Rice University scientists.A computational model dev...
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...
Probing Excited-State Electron Transfer by Resonance Stark Spectroscopy:4.Mutations near BL in Photosynthetic Reaction Centers Perturb Multiple Factors that Affect BL/fBL+HL
Excited-State Electron Transfer Resonance Stark Spectroscopy Mutations near BL Photosynthetic Reaction Centers Perturb Multiple Factors BL/fBL+HL
2016/5/24
Stark spectra have been obtained in the region of absorption by the accessory bacteriochlorophylls (the B-band region around 800 nm) in Rhodobacter sphaeroides reaction centers. The Stark spectra in t...
Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model
: PTEN Hamartoma Tumour syndrome Cowden syndrome
2015/12/21
PTEN Hamartoma Tumour Syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS),
and other conditions resulting from germline mutation of the PTEN tumour suppressor gene...
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...