1st ed. xii, 346 s.
- Conspectus
- Obecná genetika. Obecná cytogenetika. Evoluce
- NML Fields
- biologie
- genetika, lékařská genetika
BACKGROUND: Sequence variability in the hepatitis C virus (HCV) genome has led to the development and classification of six genotypes and a number of subtypes. The HCV 5' untranslated region mainly comprises an internal ribosomal entry site (IRES) responsible for cap-independent synthesis of the viral polyprotein and is conserved among all HCV genotypes. DESCRIPTION: Considering the possible high impact of variations in HCV IRES on viral protein production and thus virus replication, we decided to collect the available data on known nucleotide variants in the HCV IRES and their impact on IRES function in translation initiation. The HCV IRES variation database (HCVIVdb) is a collection of naturally occurring and engineered mutation entries for the HCV IRES. Each entry contains contextual information pertaining to the entry such as the HCV genotypic background and links to the original publication. Where available, quantitative data on the IRES efficiency in translation have been collated along with details on the reporter system used to generate the data. Data are displayed both in a tabular and graphical formats and allow direct comparison of results from different experiments. Together the data provide a central resource for researchers in the IRES and hepatitis C-oriented fields. CONCLUSION: The collation of over 1900 mutations enables systematic analysis of the HCV IRES. The database is mainly dedicated to detailed comparative and functional analysis of all the HCV IRES domains, which can further lead to the development of site-specific drug designs and provide a guide for future experiments. HCVIVdb is available at http://www.hcvivdb.org .
- MeSH
- 5' Untranslated Regions MeSH
- Databases, Genetic * MeSH
- Genotype MeSH
- Hepacivirus genetics metabolism MeSH
- Hepatitis C virology MeSH
- Internal Ribosome Entry Sites genetics MeSH
- Humans MeSH
- Mutation MeSH
- Protein Biosynthesis MeSH
- RNA, Viral genetics MeSH
- Data Collection MeSH
- Base Sequence MeSH
- Viral Proteins biosynthesis genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- MeSH
- Alkaloids biosynthesis MeSH
- Bacteria genetics metabolism MeSH
- Peptide Biosynthesis, Nucleic Acid-Independent MeSH
- Databases, Genetic MeSH
- Genetic Markers MeSH
- Fungi genetics metabolism MeSH
- Metagenome MeSH
- International Cooperation MeSH
- Multigene Family * MeSH
- Peptides metabolism MeSH
- Polyketides metabolism MeSH
- Polysaccharides biosynthesis MeSH
- Protein Biosynthesis * MeSH
- Plants genetics metabolism MeSH
- Terminology as Topic MeSH
- Terpenes metabolism MeSH
- Computational Biology standards MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Research Support, U.S. Gov't, Non-P.H.S. MeSH
- MeSH
- Algorithms MeSH
- Databases, Genetic MeSH
- Humans MeSH
- Melanoma chemistry genetics mortality MeSH
- Mice MeSH
- Receptors, Antigen, T-Cell chemistry genetics MeSH
- Receptors, Antigen * analysis genetics metabolism MeSH
- RNA analysis genetics MeSH
- Sequence Analysis, RNA methods MeSH
- Gene Expression Profiling methods MeSH
- Computational Biology methods MeSH
- High-Throughput Nucleotide Sequencing MeSH
- Animals MeSH
- Check Tag
- Humans MeSH
- Mice MeSH
- Animals MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
RNA interference (RNAi) is a suitable method for sequence-specific post-transcriptional gene silencing for a number of model systems. Here, we describe selection of the target sequence for efficient RNAi knockdown in mouse.
- MeSH
- 3' Untranslated Regions MeSH
- Databases, Genetic MeSH
- RNA, Double-Stranded metabolism MeSH
- Expressed Sequence Tags MeSH
- Genetic Techniques MeSH
- DNA, Complementary metabolism MeSH
- RNA, Small Interfering metabolism MeSH
- RNA, Messenger metabolism MeSH
- Mice MeSH
- RNA Processing, Post-Transcriptional MeSH
- RNA Interference MeSH
- Gene Silencing MeSH
- Animals MeSH
- Check Tag
- Mice MeSH
- Animals MeSH
- Publication type
- Journal Article MeSH
... List of abbreviations 9 -- Part 1 Overview -- 1 The place of genetics in medicine 12 -- Part 2 The Mendelian ... ... inheritance, principles 25 -- 7 Consanguinity and major disabling autosomal recessive conditions 28 ... ... -- 8 Autosomal recessive inheritance, life-threatening conditions 31 -- 9 Aspects of dominance 34 -- ... ... 10 X-linked and Y-linked inheritance 36 -- 11 X-linked inheritance, clinical examples 38 -- 12 Mitochondrial ... ... inheritance 40 -- 13 Risk assessment in Mendelian conditions 42 -- Part 3 Basic cell biology -- 14 The ...
At a glance series
Third edition 231 stran : barevné ilustrace ; 28 cm
- MeSH
- Genetics, Medical MeSH
- Conspectus
- Obecná genetika. Obecná cytogenetika. Evoluce
- Učební osnovy. Vyučovací předměty. Učebnice
- NML Fields
- genetika, lékařská genetika
- NML Publication type
- učebnice vysokých škol
... history and impact of genetics in medicine 3 -- Early beginnings 3 -- Gregor Mendel and the laws of inheritance ... ... 3 -- The chromosomal basis of inheritance 5 -- The fruit fly 5 -- The origins of medical genetics 6 ... ... 97 -- Family studies 97 -- Mendelian inheritance 97 -- Non-Mendelian inheritance 106 -- •••\'^^■’^^■ ... ... 127 -- Polygenic inheritance and the normal distribution -- 127 Multifactorial inheritance - the liability ... ... 294 -- Autosomal recessive inheritance 296 -- Sex-linked recessive inheritance 298 -- The use of linked ...
11th ed. 372 s. : il.
- MeSH
- Genetics, Medical MeSH
- Conspectus
- Obecná genetika. Obecná cytogenetika. Evoluce
- NML Fields
- genetika, lékařská genetika
Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease with an estimated prevalence of up to 1 in 200 individuals. In the majority of cases, HCM is considered a Mendelian disease, with mainly autosomal dominant inheritance. Most pathogenic variants are usually detected in genes for sarcomeric proteins. Nowadays, the genetic basis of HCM is believed to be rather complex. Thousands of mutations in more than 60 genes have been described in association with HCM. Nevertheless, screening large numbers of genes results in the identification of many genetic variants of uncertain significance and makes the interpretation of the results difficult. Patients lacking a pathogenic variant are now believed to have non-Mendelian HCM and probably have a better prognosis than patients with sarcomeric pathogenic mutations. Identifying the genetic basis of HCM creates remarkable opportunities to understand how the disease develops, and by extension, how to disrupt the disease progression in the future. The aim of this review is to discuss the brief history and recent advances in the genetics of HCM and the application of molecular genetic testing into common clinical practice.
- MeSH
- Genetic Testing * MeSH
- Cardiomyopathy, Hypertrophic diagnosis genetics MeSH
- Humans MeSH
- Mutation * MeSH
- Sarcomeres genetics MeSH
- Muscle Proteins genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Review MeSH
... system 104 -- SUMMARY 107 -- QUESTIONS 108 -- FURTHER READING 108 -- 5 SINGLE-GENE DISORDERS: -- INHERITANCE ... ... -- AND MITOCHONDRIAL DNA -- INHERITANCE PATTERNS -- 110 no -- 111 -- 112 -- Autosomal dominant inheritance ... ... 112 -- Autosomal recessive inheritance 113 -- Sex-linked inheritance 116 -- Matrilineal inheritance ... ... PHENOTYPES 122 -- Difficulties in defining the mode of inheritance in small pedigrees -- Heterogeneity ... ... differences in gene dosage -- 156 -- 158 -- 160 -- 163 -- 6.3 ABNORMAL EPIGENETIC -- REGULATION IN MENDELIAN ...
2nd ed. 534 s. : il.
"Genetics and Genomics in Medicine is a new textbook written for undergraduate and graduate students, as well as medical researchers, which explains the science behind the uses of genetics and genomics in medicine today. It is not just about rare inherited and chromosomal disorders, but how genetics affects the whole spectrum of human health and disease. DNA technologies are explained, with emphasis on the modern techniques that have revolutionized the use of genetic information in medicine and are indicating the role of genetics in common complex diseases. The detailed, integrative coverage of genetic approaches to treatment and prevention includes pharmacogenomics and the prospects for personalized medicine. Cancers are essentially genetic diseases and are given a dedicated chapter that includes new insights from cancer genome sequencing. Clinical disorders are covered throughout and there are extensive end-of-chapter questions and problems"--Provided by publisher.
