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Fruit Fly Muscles With A Hypertrophic Cardiomyopathy Mutation Don’t Relax Properly（图）
Fruit Fly Muscles Hypertrophic Cardiomyopathy Mutation Don’t Relax Properly
2017/10/25
Using fruit flies, Johns Hopkins researchers have figured out why a particular inherited human heart condition that is almost always due to genetic mutations causes the heart to enlarge, thicken and f...
山东大学医学院医学遗传学课件（七年制） genomic imprinting and gene mutation
山东大学医学院 医学遗传学 课件（七年制） genomic imprinting and gene mutation
2017/4/21
山东大学医学院医学遗传学课件（七年制） genomic imprinting and gene mutation。
Common Breast Cancer Mutation Could Be Vulnerable to Drug Combination
Common Breast Cancer Vulnerable Drug Combination
2016/12/27
Breast cancer cells that carry a certain gene mutation can be induced to die using a combination of an existing targeted therapy along with an investigational molecule tested by Duke Cancer Institute ...
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...
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...
Prevalence of the HFE Gene Mutation in the Liver Trans-planted and Primary Hemochromatosis Patients in the Southern Iran
HFE gene Hemochromatosis Liver transplant
2015/9/22
Background: Primary hemochromatosis is an inherited disorder. Mutation in this gene is accompanied with iron overload in the body leading to organ failure that primarily affects liver. Individuals wi...
PREVALENCE OF MT DNA MUTATION IN TYPE II DIABETES MELLITUS
Diabetes Mellitus Type II Mitochondria mt DNA A3243G 5kb
2009/12/31
Background: Mitochondria is one of the intracellular organelle with specific DNA. Some diseases caused by mtDNA mutations have been reported up to now. Mutation of A3243G and deletion of 5kb are two o...
Detection of Mutation in 23S rRNA in Isolates of Streptococcus pyogenes Resistant to Erythromycin
Streptococcus pyogenes 23S rRNA erythromycin-resistance
2009/12/17
Background: In this study, erythromycin resistance isolates from the students with aged 12-15 yr old were studied and the mutations in the 23S rRNA were identified by sequencing.Methods: Throat sample...
Detection of Cystic Fibrosis DF508 Mutation in the Çukurova Region
Mutation Cystic Fibrosis Ç ukurova Region
2009/6/29
Cystic fibrosis (CF) is a well-known inherited multisystem disorder characterised primarily by chronic obstructive lung disease and maldigestion. The frequency of the disease varies among ethnic group...
Analysis of ras Gene Mutation in Human Oral Tumours by Polymerase Chain Reaction and Direct Sequencing
Oral tumour PCR Direct sequencing Tobacco-specific nitrosamines
2009/6/29
Genetic alterations in proto-oncogenes or tumour suppressor genes are believed to be one of the key events in the multistage process of carcinogenesis. Activating point mutations occurring in either o...
Identification of a Novel Frameshift Mutation [Codon 3 (+T)] in a Turkish Patient with b-Thalassemia Intermedia
b-thalassemia b-globin gene insertion frameshift mutation DNA sequencing
2009/6/22
b-Thalassemia, one of the most widespread genetic diseases in the world, is an autosomal recessive disease generally caused by point mutations in the b-globin gene that is located as a cluster on the ...
Mutation Analysis By The Use of Temporal Temperature Gradient Gel Electrophoresis
mutation mutation detection techniques molecular scanning nuclear gene mitochondrial mutations
2009/6/22
Today, technological development continues in the mutational analysis area of molecular medicine. In the past few years, the necessity to screen amplified DNA products to identify mutations or polymor...
Is MEFVGene Arg202Gln (605 G>A) A Disease-Causing Mutation?
Familial Mediterranean fever (FMF) amyloidosis MEFVgene R202Q
2009/6/16
Aim: Familial Mediterranean fever (FMF) is an autosomal recessive disease. Arg202Gln was reported as a frequent polymorphism, and G allele of the mutation was in linkage disequilibrium with M694V. Thu...