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Identification and characterization of the yls mutation in rice (Oryza sativa L.) with lower photosynthetic pigment content
chloroplast development map-based cloning SRP54 protein yellow-green leaf mutant
2016/12/8
Normal chloroplast development in rice is essential for photosynthesis and yield potential. To explore the physiological and molecular mechanism of chloroplast development, we isolated the rice mutant...
Production of Transgenic Pigs with an Introduced Missense Mutation of the Bone Morphogenetic Protein Receptor Type IB Gene Related to Prolificacy
Transgenic Handmade Cloning Pig BMPR1B Coding Sequence Reproductive Traits
2016/7/27
In the last few decades, transgenic animal technology has witnessed an increasingly wide application in animal breeding. Reproductive traits are economically important to the pig industry. It has been...
Plasma folate, vitamin B-6, and vitamin B-12 and breast cancer risk in BRCA1- and BRCA2-mutation carriers: a prospective study
BRCA BRCA1 BRCA2 breast cancer B vitamins epidemiology folate hereditary breast cancer vitamin B-6 vitamin B-12
2018/12/14
Background: B vitamins [vitamins B-6, B-9 (folate), and B-12] play important roles in nucleotide biosynthesis and biological methylation reactions, aberrancies of which have all been implicated in car...
Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome
folate homocysteine mutation
2016/6/1
Down syndrome, or trisomy 21, is a complex
genetic disease resulting from the presence of 3 copies of chromosome
21. The origin of the extra chromosome is maternal in
95% of cases and is due to the...
First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population
Gene Deletion Phenylalanine Hydroxylase Phenylketonuria
2016/1/26
Introduction: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (PAH) gene. Most of the PAH mutations a...
Association of a synonymous mutation of the PGAM2 gene and growth traits in rabbits
SNPs body weight average daily weight gain
2015/7/7
The association results revealed the CT genotype of c.195C>T was associated
significantly (P < 0.05) with greater body weight at 84 days of age (BW84) and with average daily weight gain
(ADG). How...
Effect of missense mutation Asp298Asn in MC4R on growth and fatness traits in commercial pig crosses in the Czech Republic
MC4R growth fatness pig
2015/6/9
The current knowledge of factors regulating voluntary feed intake in pigs is quite limited. The objective of this study was to test the influence of the missense mutation p.Asp298Asn (AF087937:c.746G>...
Simplified PCR analysis of a mutation in the NHEJ1 gene causing collie eye anomaly in some dog breeds
CEA polymorphism indel PikoTM Thermal Cycler allele frequencies
2015/6/8
Collie eye anomaly (CEA) is an inherited eye disease affecting development of the choroids and sclera segregating in several, mostly herding breeds of dog. Phenotypic development of the disease varies...
Mutation in the RPE65 gene causing hereditary retinal dystrophy in the Briard dogs: application of a new detection method
RPE65 gene CSNB dog Briard electrophoresis
2015/6/5
Inherited eye diseases are widespread in most of the pure dog breeds and they show a severe impact on canine health, welfare and working ability. Congenital stationary night blindness (CSNB) was origi...
A DdeI PCR-RFLP detecting a novel missense mutation of the POU1F1 gene showed no effects on growth traits in cattle
bovine POU1F1 gene PCR-RFLP growth traits
2015/6/5
In this study, a novel missense (NM_174579:c.1201C>T) mutation in exon 6 at the bovine POU1F1 locus is reported, which results in p.S284F, namely, Ser (TCT) > Phe (TTT) at position 284 of the mature p...
An aetiological Foxp2 mutation causes aberrant striatal activity and alters plasticity during skill learning
Foxp2 in vivo recording KE family motor-skill learning speech and language striatum
2015/4/20
Mutations in the human FOXP2 gene cause impaired speech development and linguistic deficits, which have been best characterised in a large pedigree called the KE family. The encoded protein is highly ...
Genome induced mutation in Callistephus chinensis Ness. – evaluation of plant fertility and seed characteristics
Callistephus chinensis China aster polyploidy
2015/1/21
Thousand seed weight (TSW, g), achene size (mm) and fertility were evaluated in polyploid plants of C0 (1999) and C1 (2000) generations. The fertility of polyploid plants was usually very low (more th...
Characterization of {\it midline uncoordinated\/}, a mutation affecting behavior and neuroanatomy in Drosophila
Genetics gene gene elements neurons
2014/12/11
Genetic screens which assay behavior have been successfully used to identify genes required for neural function. This thesis is the analysis of midline uncoordinated (muc), a mutation identified for i...
Cloning and functional characterization of the zebrafish mutation belladonna
Belladonna zebrafish mutations mutagenic screen and identify genes the retina the nerve cross the pupil
2014/12/11
The zebrafish belladonna (bel) mutation was identified in a large-scale mutagenesis screen to identify genes involved in retino-tectal pathfinding in Tubingen, Germany. In bel mutants, after exiting t...
A Novel Missense Mutation, E1623G,in the Human Factor VIII Gene Associated With Moderate Haemophilia A
Hemophilia A Mutation Missense F8 protein human
2015/10/10
Introduction:: Haemophilia A is the most common inherited X-linked recessive bleeding disorder. The severity of the resultant bleeding diathesis depends on the FVIII levels associated with the mutatio...