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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...
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...
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...
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...
Missense mutations in exon 2 of the porcine leptin receptor gene and their associations with litter size and body weight
LEPR SNPs pigs
2015/6/8
Leptin receptor (LEPR) gene is regarded as a “candidate-gene” of production traits. The aims of this study were to detect polymorphisms of exon 2 within LEPR gene and to investigate their associations...
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...
De novo TBR1 mutations in sporadic autism disrupt protein functions
TBR1 mutations sporadic autism disrupt protein functions
2015/5/5
Next-generation sequencing recently revealed that recurrent disruptive mutations in a few genes may account for 1% of sporadic autism cases. Coupling these novel genetic data to empirical assays of pr...
Foxp2 Mutations Impair Auditory-Motor Association Learning
Foxp2 Auditory-Motor Association Learning
2015/4/20
Heterozygous mutations of the human FOXP2 transcription factor gene cause the best-described examples of monogenic speech and language disorders. Acquisition of proficient spoken language involves aud...
Making Mutations: Objects, Practices, Contexts.
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 ...