bluuebunny/crossref_metadata_2025 huggingface dataset:
Cell Cycle: Chromosomal Organization
Authors: Cremer Marion , Schermelleh Lothar , Solovei Irina , Cremer Thomas
Published: September 2006

In interphase nuclei chromosomes are organized as distinct nuclear structures, called chromosome territories (CTs). If CTs and chromosomal subregions are organized in a cell type‐specific or species‐specific manner and if these structures show specific positional changes during the cell cycle then there may be a functionally significant relationship between higher‐order chromatin arrangements and nuclear functions, for example cell cycle‐ and cell type‐specific differences in gene expression.
Chromosomes during Cell Division
Authors: Allison David C , Nestor Andrea L , Isaka Takahiro
Published: September 2006

In mitosis, the replicated DNA condenses into chromosomes, followed by dissolution of the nuclear envelope, assembly of the mitotic spindle, migration of the sister chromatid pairs to the metaphase plate, division and segregation of identical sets of chromosomes into the daughter nuclei, reformation of the nuclear envelope and cell division. Each step of mitosis involves well‐defined structural changes controlled by sequential molecular checkpoints.
Mitosis: Chromosomal Rearrangements
Authors: Gollin Susanne M , Skarja Shalini Reshmi
Published: September 2006

Chromosomal rearrangements occur during mitosis as a result of chromosomal breakage and rejoining. Such chromosomal rearrangement occurs more frequently in cancer cells than during embryogenesis or postnatally, usually as a result of environmental exposures and/or mutations resulting in DNA repair defects.
Chromosome Analysis and Identification
Authors: Warburton Dorothy
Published: September 2006

Chromosome analysis of human cells is used to identify aberrations of chromosome number and structure. These are associated with developmental or reproductive abnormalities and cancer. Analysis usually involves an examination of stained chromosomes in dividing cells under the light microscope. Individual chromosomes can be identified by morphological characteristics and staining patterns.
Banding Techniques
Authors: Blennow Elisabeth
Published: September 2006

A large number of chromosome banding techniques have been developed, giving each chromosome a unique banding pattern which may be used to identify chromosome abnormalities. In addition, other selective staining techniques may be used to study specific chromosome regions.
Karyotype Interpretation
Authors: Shaffer Lisa G
Published: September 2006

The construction of karyotypes from human metaphase chromosomes allows for the identification of cytogenetic abnormalities at a whole genome perspective. Constitutional and acquired chromosome changes can be detected by routine and high‐resolution cytogenetic preparations, and a specific nomenclature allows for accurate communication, interpretation and reporting.
Fluorescence
In Situ
Hybridization (FISH) Techniques
Authors: Speicher Michael R
Published: September 2006

Fluorescence
in situ
hybridization allows the visualization and analysis of chromosomal regions on metaphase spreads and in interphase nuclei. The multitude of different FISH technologies and applications range from its use in diagnostics to areas in basic research.
Sex Chromosomes
Authors: Lucchesi John C
Published: September 2006

Sexual reproduction increases the number of different genetic constitutions that are present at each generation and that can be acted upon by natural selection. The genetic information required for the differentiation of fertilized eggs into individuals of different sexes is contained on a special pair of chromosomes: the sex chromosomes.
Chromosome X: General Features
Authors: Wakefield Matthew J , Graves Jennifer AM
Published: September 2006

The X chromosome is the larger of the pair of chromosomes that determine sex in mammals. It is present in two copies in females, while one copy pairs with the sex determining Y chromosome in males.
Artificial Chromosomes
Authors: Schlessinger David , Nagaraja Ramaiah
Published: September 2006

Yeast, bacterial and mammalian artificial chromosomes can clone and transfer genes or other genomic DNA segments into cells in the form of additional supernumerary chromosomes. They provide a route to the analysis of chromosome dynamics, long‐ and short‐range regulation of genes and possibly to gene therapy.
Chromosome 6
Authors: Müller‐Myhsok Bertram , Ziegler Andreas
Published: September 2006

Human chromosome 6 is a submetacentric chromosome, which contains some 5% of the genetic material in the genome. It is characterized by the human
major histocompatibility complex
(MHC)and a cluster of histone genes.
Chromosome 8
Authors: Hilton Matthew J , Wells Dan E
Published: September 2006

Human chromosome 8 is a submetacentric chromosome that contains 4–5% of the genetic material in the genome.
Chromosome 10
Authors: Moschonas Nicholas K
Published: September 2006

Chromosome 10 is a medium sized submetacentric chromosome corresponding to about 4.2% of the genetic material in the genome.
Chromosome 11
Authors: Gerhard Daniela S
Published: September 2006

Human chromosome 11 is a submetacentric chromosome that contains some 4% of the genome and a number of imprinted genes.
Chromosome 15
Authors: Farra Chantal , Morton Cynthia C
Published: September 2006

Human chromosome 15 is an acrocentric chromosome that contains 3.3% of the genetic material in the genome. Although comparatively gene‐poor, it contains a rRNA gene cluster and a number of imprinted genes.
Chromosome 16
Authors: Callen David F
Published: September 2006

Human chromosome 16 is a metacentric chromosome that contains 3.1% of the genetic material in the genome. It contains a large pericentromeric region of heterochromatin.
Chromosome 20
Authors: Pollet Nicolas
Published: September 2006

Human chromosome 20 is the smallest metacentric autosome and comprises approximately 2% of genetic material in the genome.
Chromosome 21
Authors: Delabar Jean Maurice
Published: September 2006

Human chromosome 21 is the smallest of the five acrocentric chromosomes and contains ∼1.4% of the genetic material in the genome. Although relatively gene‐poor, it contains a rRNA gene cluster.
Chromosome 22
Authors: Emanuel Beverly S , Shaikh Tamim H
Published: September 2006

Human chromosome 22 is the second smallest of the autosomes and contains ∼1.7% of the genetic material in the genome. It is relatively gene‐rich and contains clusters of rRNA and immunoglobulin lambda light chain genes.
Gene Therapy
Authors: Sikora Karol
Published: September 2006

Gene therapy can be defined as the deliberate transfer of genetic material for a therapeutic purpose.
Gene Therapy: Technology
Authors: Haberman Rebecca P , Samulski R Jude
Published: September 2006

Gene therapy promises to be the next revolution in medicine, in which drugs made of genetic material can be used to treat disease. Although success has been limited thus far, new technological advances are providing hope for the future.
Gibbs Sampling and Bayesian Inference
Authors: Lawrence CE
Published: September 2006

Gibbs sampling is a form of Markov chain Monte Carlo (MCMC) sampling. MCMC has opened up the power of Bayesian statistics and thus has become very popular in the field of statistics; it is particularly applicable to genomics applications.
Shotgunning the Human Genome: A Personal View
Authors: Venter J Craig
Published: September 2006

Using the whole‐genome shotgun method as the primary approach to sequencing large genomes, notably the human genome, Celera has demonstrated the validity of this method, which is now used in genome‐sequencing laboratories worldwide for all classes of organisms.
Major Histocompatibility Complex (MHC) Genes
Authors: Kulski Jerzy K , Inoko Hidetoshi
Published: September 2006

MHC genes are located within the human major histocompatibility complex (MHC) and code for different members of the class I and the class II human leukocyte antigen (HLA) families. The HLA class I and class II molecules are polymorphic cell membrane‐bound glycoproteins and, as part of the immunosurveillance system, they regulate the immune response by presenting fragmented proteins (peptides) to circulating cytotoxic and helper T lymphocytes respectively.
Serine Proteases
Authors: Di Cera Enrico , Krem Maxwell M
Published: September 2006

Serine proteases are enzymes that use a serine hydroxyl group to cleave other proteins. The human genome encodes serine proteases from four evolutionarily unrelated clans that perform a wide variety of physiologic functions.
Ovalbumin Serpins
Authors: Bird Phillip I , Silverman Gary A
Published: September 2006

Ovalbumin serpins (ov‐serpins) are a clade of intracellular protease inhibitors belonging to the serpin superfamily. They are involved in tumor progression, cell growth and differentiation, and the control of cell death. The genes are clustered at 6p25 and 18q21–23 and have almost identical structures.
Keratins and Keratin Diseases
Authors: Rogers MA
Published: September 2006

Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. They comprise a large multigene family present in clusters in the human genome. Mutations in keratins cause a variety of human genodermatoses.
Facioscapulohumeral Muscular Dystrophy (FSHD): Genetics
Authors: Upadhyaya Meena
Published: September 2006

Facioscapulohumeral muscular dystrophy (FSHD) is an enigmatic disorder. The disease locus for this condition was mapped some 12 years ago and the mutations for the disease are known, but the exact identity of FSHD gene remains elusive.
Meiosis and Mitosis: Molecular Control of Chromosome Separation
Authors: Peters Jan‐Michael , Hauf Silke
Published: September 2006

Sister chromatid separation in anaphase is initiated by the anaphase‐promoting complex, a ubiquitin ligase that activates the protease separase. This protease separates sister chromatids by cleaving cohesin, a protein complex that holds sister chromatids together.
Far‐field Light Microscopy
Authors: Cremer Christoph G
Published: September 2006

Far‐field light microscopy has reemerged as one of the major tools for studying the structure and dynamics of the human genome. This is due to the combination of multispectral molecular labeling and to the development of advanced instrumentation with increased optical, topological and size resolution.
Chromosome X
Authors: Franco Brunella
Published: September 2006

The human X chromosome is a submetacentric chromosome that contains ∼5% of the genetic material in the genome. It is characterized by two X–Y homologous (pseudoautosomal) regions that are necessary for normal meiosis. The chromosome is relatively gene‐rich and most of these are subject to X‐inactivation.
Chromosome Y
Authors: Affara Nabeel A , Sargent Carole A
Published: September 2006

The mapping and sequencing of the human Y chromosome have permitted detailed study of its evolution and an assessment of its genetic functions. The human Y chromosome is an acrocentric chromosome containing 1.6% of the genome and exhibiting a very low gene density. It is unique insofar as it is the only chromosome that does not recombine along the majority of its length and it is only present in males.
Information Theories in Molecular Biology and Genomics
Authors: Konopka Andrzej K
Published: September 2006

Information theory, statistical theory of signal transmission, communication theory and Shannon theory are synonymous names for the mathematical theory first published by Claude Shannon in the 1940s. The concept of entropy in this theory can be viewed as a measure of ‘randomness’ of sequences of symbols. Shannon entropy and its variants have been widely used in molecular biology and bioinformatics as statistical tools of choice for sequence and structure analyses.
Venous Thrombosis: Genetics
Authors: Reitsma Pieter H
Published: September 2006

The genetics of venous thrombosis provides a well worked out example of a multifactorial disease. Several genetic risk factors have been characterized in considerable detail, and evaluation of these risk factors is helpful in assessing individual risk profiles.
Tuberous Sclerosis: Genetics
Authors: Cheadle Jeremy P , Sampson Julian R
Published: September 2006

Tuberous sclerosis is an autosomal dominant disorder characterized by the development of hamartomatous growths in a wide variety of tissues and organs. It is caused by mutations in either the
TSC1
gene on 9q34 or the
TSC2
gene on 16p13.3. Hamartin and tuberin, the gene products, interact and play a role in the control of cell size.
Monogenic Hypercholesterolemia: Genetics
Authors: Day Ian N M
Published: September 2006

Several specific genes, when mutated, are capable of causing high blood cholesterol levels, which secondarily lead to atherosclerosis and coronary heart disease. The classical example was the low‐density lipoprotein receptor gene, but genes encoding other components of this pathway are also important. Such gene defects transmit in clear‐cut familial patterns and are a major cause of heart attacks at an early age.
Growth Disorders: Hereditary
Authors: Phillips John A
Published: September 2006

A variety of familial endocrine and other Mendelian disorders, as well as syndromes and cytogenetic disorders that affect growth, are caused by mutations in genes that function in metabolic pathways.
Microarrays and Expression Profiling in Cancer
Authors: Giddings Ian , Wooster Richard
Published: September 2006

DNA microarrays can be used to measure messenger ribonucleic acid levels of many thousands of genes in a single experiment. This information can be used in cancer biology and for the classification of tumors.
Microarrays and Single Nucleotide Polymorphism (SNP) Genotyping
Authors: Metspalu Andres
Published: September 2006

Microarrays are used for genotyping projects that cover one gene, many candidate genes or whole sets of chromosomes in a genome, and are capable of analyzing thousands of Single nucleotide polymorphisms (SNPs) in parallel. SNP‐based linkage disequilibrium maps and haplotypes, either measured directly or calculated from the SNP genotyping data, will be in use in the near future for studies of genome‐wide genetic association in common diseases.
Infectomics: Study of Response to Infection using Microarrays
Authors: Huang Sheng‐He
Published: September 2006

Microarray technologies are powerful tools for globally dissecting biological problems, including microbial infection. The central issue in the field of infectious diseases is how to holistically, precisely and integratively dissect the interplay between host resistance and microbial infectivity (infectomics). DNA, protein and carbohydrate microarrays can be used as global tools for research, diagnosis, prognosis, prevention and treatment of infectious disease.
Microarrays in Drug Discovery and Development
Authors: Debouck Christine , Roses Allen D
Published: September 2006

Microarrays are used to analyze the expression of thousands of genes in parallel, allowing studies of tissue distribution patterns associated with normal physiology and diseases and with the effects of compounds, in terms of safety and efficacy in model organisms and in humans.
Microarrays: Use in Gene Identification
Authors: Rank David R , Hanzel David K , Jenkins David , Thomas Russell S , Shannon Mark , Guo Jinjiao , Corrigan Amy , Zhang Jian , Gu Yizhong , Chen Wensheng , Ji Yonggang , Hu Tianhua , Barker David L , Penn Sharron G
Published: September 2006

Gene prediction by computer algorithms and approaches based on comparative genomics identifies the presence of potential genes in a genomic sequence. By placing these predicted genes onto microarrays and searching for interactions with complementary DNA from different types of tissue or cell, novel genes are discovered.
Porphyrias: Genetics
Authors: Elder George H
Published: September 2006

The porphyrias are a group of disorders of heme biosynthesis caused by enzyme deficiencies in that pathway, most of which are inherited in a Mendelian pattern. They are characterized by an accumulation in tissues and an excessive excretion of porphyrins and their precursors.
Germ Plasm and the Molecular Determinants of Germ Cell Fate
Authors: Eddy Edward Mitchell
Published: September 2006

Germ plasm is a cluster of fibrogranular bodies present in the cytoplasm of oocytes and incorporated into a few cells during early embryogenesis. These cells become the precursors to primordial germ cells, the founders of the germ cell lineage. Germ cell‐fate determinants associated with the germ plasm specify that the cells in which they reside shall become primordial germ cells.
Familial Adenomatous Polyposis
Authors: Frayling Ian M
Published: September 2006

Familial adenomatous polyposis is an inherited cancer predisposition syndrome characterized by multiple benign tumors (adenomas) of the large bowel.
Mitochondrial DNA Repair in Mammals
Authors: Bogenhagen Daniel F
Published: September 2006

In the past it was assumed that damaged mitochondrial DNA molecules in mammalian cells were not repaired, but it is now known that editing of polymerase errors and base excision repair are functional in mammalian mitochondria.
Transcription‐coupled DNA Repair
Authors: Mellon Isabel
Published: September 2006

Excision repair pathways remove a wide variety of lesions formed by endogenous and environmental agents, and protect humans from the mutagenic and carcinogenic consequences of persisting damage. Transcription‐coupled repair is a subpathway of excision repair that selectively removes lesions from the transcribed strands of expressed genes.
m
RNA
Stability and the Control of Gene Expression
Authors: Liebhaber Stephen A
Published: September 2006

mRNA stability is a principal determinant of gene expression; intrinsic stabilities of mammalian mRNAs can differ by more than 100‐fold, and the stability of an mRNA species can be altered markedly by developmental, cell‐cycle and environmental stimuli. The determinants of mRNA stability and the pathways by which they function are diverse and represented by a spectrum of informative model systems.
mRNA Export
Authors: Reed Robin , Luo Ming‐Juan , Dorman Nijsje , Magni Keith
Published: September 2006

The expression of protein‐coding genes is a multistep process that begins with transcription and processing of pre‐messenger RNA (pre‐mRNA) in the nucleus. The mature mRNA is then exported from the nucleus to the cytoplasm for translation into protein. Export of mRNA involves a specific cellular machinery that is highly conserved from yeast to humans.
mRNA: Intranuclear Transport
Authors: Pederson Thoru , Politz Joan C
Published: September 2006

The movement of messenger ribonucleic acid from its transcription site to the nuclear pore is necessary for transport to the cytoplasm for translation. Evidence suggests that newly transcribed mRNAs complexed with multiple proteins, some of which determine their export competency, diffuse through the interchromatin space until they encounter a nuclear pore and are captured for export.
Limb Development Anomalies: Genetics
Authors: Manouvrier‐Hanu Sylvie
Published: September 2006

Limb malformations range from reduction defects to subtle digit anomalies (number/length/anatomy). They are due to limb development gene function alteration and may be isolated or associated with other malformations.
Tooth Agenesis
Authors: Vastardis Heleni
Published: September 2006

Evidence supporting the genetic basis of tooth agenesis is being established through identification of human mutations. Two genes,
MSX1
and
PAX9
, have been associated with two different types of tooth agenesis, indicating that the development of differently shaped teeth is determined by different genetic pathways.
Cell Cycle Control: Molecular Interaction Map
Authors: Kohn Kurt W , Aladjem Mirit I , Pasa Stefania , Parodi Silvio , Pommier Yves
Published: September 2006

Complex network of molecular interactions that control the mammalian cell division cycle can be organized in the form of a map with associated annotations. The map utilizes a specifically designed notation and is in four parts, each with a different focus: control of E2F‐dependent genes, control of and by c‐Myc, checkpoint control responses to DNA damage and control of replication origins.
Mapping Gene Function in the Embryo
Authors: Davidson Duncan , Baldock Richard
Published: September 2006

Diverse information relating to gene function in the embryo such as gene expression and mutant phenotype can be integrated by mapping data from individual experiments to the appropriate location in a canonical digital model of the embryo. This information is then accessible to bioinformatics and can be collated, searched and compared. The development of canonical model embryos and of tools to map data to them is an active area of research.
Atherosclerosis
Authors: Patterson Cam , Stouffer George A
Published: September 2006

Atherosclerosis is a disease of the arteries that results in heart disease and stroke – the most common causes of death in developed countries. Atherosclerosis results from injury to the artery caused by mechanical and environmental factors; the tendency to develop atherosclerosis is determined by polygenetic factors that are incompletely understood.
Genetic Disease: Prevalence
Authors: Zlotogora Joel
Published: September 2006

Although monogenic diseases are considered to be rare, some are relatively frequent either in large parts of the world or in more delineated regions. Often the relative high frequency is limited to some subpopulations or even small communities. Various processes influence the prevalence of genetic diseases in the population, in particular, genetic heterogeneity, new mutations, selection, migration or genetic drift.
Tumor Suppressor Genes
Authors: Hooper Martin L
Published: September 2006

When functioning normally, a tumor suppressor gene prevents the formation of one or more types of cancer. Mutations in tumor suppressor genes that interfere with their function can be inherited in the germ line or can occur in somatic cells; the accumulation of such mutations can allow cancer to develop.
Human Gene Nomenclature
Authors: Wain Hester M , Povey Sue
Published: September 2006

All the genes in the human genome will eventually be identified with an official gene name and symbol (short‐form abbreviation). Already, almost half of these genes have unique symbols that reflect their structure, function or similarity, and these can be found in a number of online databases, including Genew.
Demyelinating Neuropathies: Hereditary
Authors: Hanemann Clemens Oliver
Published: September 2006

Hereditary demyelinating neuropathies are among the most common inherited neurological diseases. Many causative mutations have been identified, opening up the possibility of reclassifying the hereditary demyelinating neuropathies. Better understanding of the pathogenesis of these diseases has given an insight into the genotype–phenotype correlation.
Autosomal Dominant Polycystic Kidney Disease
Authors: Amin Arnaout M
Published: September 2006

Autosomal dominant polycystic kidney disease is the most common type of a group of hereditary cystic diseases of the kidney that also includes autosomal recessive polycystic kidney disease, familial juvenile nephronophthisis and medullary cystic kidney disease.
Spinal Muscular Atrophy
Authors: Schmalbruch Henning
Published: September 2006

Spinal muscular atrophy is the name for denervating disorders of skeletal muscles caused by hereditary degeneration of lower motor neurons. This definition includes not only infantile and juvenile spinal muscular atrophy but also such diverse diseases such as Kennedy syndrome and neuronal Charcot–Marie–Tooth disease. These diseases differ in heredity and genetic basis; spinal muscular atrophy in the strict sense is a recessively inherited condition localized on chromosome 5.
Drug Metabolic Enzymes: Genetic Polymorphisms
Authors: Ingelman‐Sundberg Magnus
Published: September 2006

Polymorphism in drug metabolizing enzymes is believed to be of great importance for interindividual differences in drug therapy. Predictive genotyping of such genes can help to design individualized, safer and more efficient drug therapies.
Sickle Cell Disease as a Multifactorial Condition
Authors: Steinberg Martin H
Published: September 2006

The phenotype of sickle cell anemia is heterogeneous, although all patients have the identical sickle mutation. The products of epistatic modifying genes and the sickle hemoglobin gene interact to determine the disease phenotype.
Charcot–Marie–Tooth Disease and Associated Peripheral Neuropathies
Authors: Inoue Ken , Lupski James R
Published: September 2006

Charcot–Marie–Tooth disease (CMT) is a genetically heterogeneous group of inherited peripheral neuropathies that can affect either or both components of peripheral nerves, myelin (glia) and/or axons (neurons), resulting in CMT types 1 and 2. Two mutational mechanisms are relevant: recurrent genomic rearrangements (duplication and deletion) that include a dosage‐sensitive myelin gene,
PMP22
, and point mutations in at least 14 genes important for peripheral nerve development and maintenance.
Activating and Inactivating Mutations in the
GNAS1
Gene
Authors: Aldred Micheala A , Trembath Richard C
Published: September 2006

GNAS
is a complex locus encoding multiple overlapping transcripts. Several human diseases are caused by activating or inactivating mutations, or by abnormal methylation at this locus.
Parkinson Disease
Authors: Hattori Nobutaka , Mizuno Yoshikuni
Published: September 2006

Parkinson disease is a slowly progressive neurodegenerative disease with typical features such as resting tremor, cogwheel rigidity, bradykinesia and postural instability. It is the second most frequent neurodegenerative disorder after Alzheimer disease.
Orofacial Clefting
Authors: Dixon Michael J , Murray Jeffrey C
Published: September 2006

Cleft lip and cleft palate are major birth defects that have a complex etiology involving both genetic and environmental factors. The integration of modern molecular and developmental genetic techniques with epidemiologic studies is beginning to unravel the complex molecular pathways driving normal craniofacial morphogenesis and how these are disturbed in orofacial clefting.
Allele Spectrum of Human Genetic Disease
Authors: Weiss Kenneth M
Published: September 2006

The distribution of genetic variation associated with a specified phenotype is sometimes known as its genetic architecture or allele frequency ‘spectrum’. These terms may refer to a disease phenotype or to variation in the trait in the general population.
Genotype–Phenotype Relationships: Fatal Familial Insomnia and Creutzfeldt–Jakob Disease
Authors: Goldfarb Lev G
Published: September 2006

Some of the thousands of DNA polymorphisms identified in the coding regions of human genes affect functional characteristics of the encoded proteins and may predispose an individual to complex trait disorders such as diabetes, asthma, atherosclerosis and Parkinson disease. ‘Nonpathogenic’ DNA polymorphisms can modify the phenotypic expression of Mendelian disorders; a striking example of such influence is a DNA variation identified at codon 129 of the
PRNP
(prion protein) gene that determines the phenotypic expression of two separate disorders.
Position Effect Variegation in Human Genetic Disease
Authors: Parnell Timothy J , Grade Stephanie K , Geyer Pamela K , Wallrath Lori L
Published: September 2006

Position effect variegation (PEV) is the mosaic pattern of expression shown by genes placed within or near heterochromatic environments. Research on several model organisms has identified molecular mechanisms that account for PEV. These studies suggest that some human genetic diseases might be attributed to PEV.
Mismatch Repair Genes
Authors: Peltomäki Päivi , Nyström‐Lahti Minna
Published: September 2006

The mismatch repair (MMR) system is necessary for the maintenance of genomic stability. The primary role of MMR is to correct errors such as base/base mismatches and small insertions/deletions that arise during DNA synthesis and recombination.
Tumor Formation: Number of Mutations Required
Authors: Boland C Richard
Published: September 2006

Tumors develop as a consequence of mutations in critical growth‐regulating genes. A large number of mutations can be found in most tumors, frequently in functionally irrelevant DNA sequences. This suggests that in most instances, a form of widespread genomic instability is an antecedent process that generates mutations randomly, some of which provide growth or survival advantages, which lead to clonal expansion and the emergence of a tumor.
Wilms Tumor
Authors: Pritchard‐Jones Kathy
Published: September 2006

Wilms tumor, otherwise known as nephroblastoma, is a childhood embryonal kidney cancer. This potentially heritable tumor involves several different genes, many of which illustrate the close relationship between cancer and maldevelopment. The majority of children are cured of their cancer but new molecular markers to predict tumor recurrence risk are needed to allow better stratification of treatment intensity.
Retinoblastoma
Authors: Lohmann Dietmar Rudolf , Gallie Brenda L
Published: September 2006

Retinoblastoma is a malignant tumor that originates from the developing retina. Mutations in both alleles of the retinoblastoma gene are a prerequisite for the development of this tumor. Germ‐line mutations in the retinoblastoma gene cause heritable predisposition to retinoblastoma, a Mendelian trait that shows autosomal dominant inheritance.
Neuroblastoma
Authors: Maris John Matthew
Published: September 2006

Neuroblastoma is a common and often lethal cancer of early childhood. There is remarkable clinical heterogeneity, with some tumors spontaneously remitting, while others relentlessly progress. It is now clear that the pattern of somatically acquired genetic alterations present in neuroblastomas might explain these phenotypic differences and perhaps direct us toward rational therapeutic targets.
Bladder Cancer
Authors: Orntoft Torben F
Published: September 2006

Cancer of the urinary bladder is a very common disease. It is often characterized by frequent recurrences of superficial tumors during several years.
Gastric Cancer
Authors: Becker Karl‐Friedrich
Published: September 2006

Gastric carcinoma is a malignant epithelial tumor of the stomach mucosa. Its etiology is multifactorial. Genetic alterations in multiple oncogenes, tumor suppressor genes and deoxyribonucleic acid repair genes have been identified.
Renal Carcinoma and von Hippel–Lindau Disease
Authors: Maxwell Patrick H
Published: September 2006

Von Hippel–Lindau disease is a rare autosomal dominant condition with a high risk of renal carcinoma. The underlying tumor suppressor gene is also mutated in most sporadic clear cell renal carcinomas, and has given insight into how cells detect and respond to changes in the availability of oxygen.
Melanoma: Genetics
Authors: Pollock Pamela M
Published: September 2006

Melanoma is an aggressive skin cancer. Germ‐line mutations in
CDKN2A
and
CDK4
are found in about 20% of melanoma families. Mutations in a variety of genes have been reported in sporadic melanomas.
Telomeres and Telomerase in Aging and Cancer
Authors: Ouellette Michel M
Published: September 2006

Telomeres protect the ends of chromosomes and shorten each time somatic human cells divide. As a consequence, cells enter senescence after a limited number of divisions. The enzyme telomerase expressed in rare cells of the skin, blood and intestine can prevent the shortening of telomeres and extend cellular lifespan.
Cancer Genome Anatomy Project
Authors: Strausberg Robert L
Published: September 2006

The Cancer Genome Anatomy Project CGAP generates gene expression, polymorphism and chromosomal aberration datasets to support the elucidation of the molecular signatures of cancer. To facilitate use of CGAP data by the biomedical research community, the project has developed a suite of analytical tools designed to facilitate
in silico
analysis.
Chromatin Structure and Modification: Defects
Authors: Hendrich Brian
Published: September 2006

The human genome has evolved a large number of different proteins capable of interacting with or modulating chromatin structure required to ensure the proper regulation of gene expression. Human genetic disease may result from mutation or misexpression of these chromatin proteins.
Iron Metabolism: Disorders
Authors: Andrews Nancy C
Published: September 2006

Recently, major advances have been made in understanding iron metabolism and genetic defects that cause abnormalities of iron homeostasis. While most clinicians appreciate the prevalence and morbidity of iron deficiency, many are still ignorant about hemochromatosis. There are several types of hemochromatosis; the genes for some have been identified and mapped, but others remain elusive.
Thrifty Genotype Hypothesis and Complex Genetic Disease
Authors: Vardi Pnina , Bloch Konstantin
Published: September 2006

Thrifty genes might be responsible for the appearance and increasing frequency of diseases that were uncommon before the emergence of the affluent Western lifestyle. Evolutionary selection of such genes enabled metabolic adaptation to disadvantageous conditions, but now thrifty gene expression is detrimental to health.
Mitochondrial Heteroplasmy and Disease
Authors: Elson Joanna L , Lightowlers Robert N
Published: September 2006

In addition to the nuclear genome, most eukaryotic cells also have multiple copies of a small circular genome located within the mitochondrion (mtDNA), the presence of which is critical for cellular respiration. All the mtDNA within the cells of young individuals is usually thought to be identical, a condition known as homoplasmy. An alternative situation is heteroplasmy, where there are two or more mtDNA types present within the cells of a single individual.
Nevoid Basal Cell Carcinoma (Gorlin) Syndrome
Authors: Gorlin Robert J
Published: September 2006

The nevoid basal cell carcinoma syndrome is characterized by numerous basal cell cancers and epidermal cysts of the skin, odontogenic keratocysts of the jaws, palmar and plantar pits, calcified dural folds, various neoplasms or hamartomas (ovarian fibromas, medulloblastoma, lymphomesenteric cysts, fetal rhabdomyomas, etc.) and various stigmata of maldevelopment (rib and vertebral abnormalities, cleft lip and/or palate, cortical defects of bones, etc.).
Glucose‐6‐Phosphate Dehydrogenase (G6PD) Deficiency: Genetics
Authors: Mason Philip J , Vulliamy Thomas J
Published: September 2006

Deficiency of glucose‐6‐phosphate dehydrogenase (G6PD) is the most common enzyme deficiency in humans and has many different local variants. The enzyme deficiency is manifested mainly in red cells, where it can lead to acute hemolytic anemia caused by failure to prevent oxidative damage. Its prevalence is due to the fact that it confers a selective advantage against malaria infection.
Dental Anomalies: Genetics
Authors: Thesleff Irma , Pirinen Sinikka
Published: September 2006

Development of teeth is under strict genetic control and there is strong evidence that gene mutations can disturb normal dental development. Because the same genes that regulate tooth morphogenesis are also active in the development of other organs and tissues, dental anomalies are often found in syndromes, mostly associated with defects in various ectodermal organs and/or cleft lip and palate.
Androgen Insensitivity
Authors: Brinkmann Albert O
Published: September 2006

Androgen insensitivity is an X‐linked disorder of defective or absent virilization in 46,XY individuals due to complete or partial resistance to androgens in androgen‐dependent tissues and organs. The molecular cause of the syndrome is mutations in the androgen receptor gene, resulting in the production of a mutant androgen receptor protein, with partial or complete loss of its activity. The androgen insensitivity syndrome displays a broad phenotypic and genotypic spectrum.
Antitrypsin (
AAT
) Deficiency‐α
1
Authors: Cox Diane W
Published: September 2006

Alpha‐1‐antitrypsin deficiency is one of the more common metabolic disorders, and is usually associated with one common gene mutation. The deficiency results in increased susceptibility to chronic obstructive pulmonary disease and liver disease, both in childhood and adult life.
Lysosomal Transport Disorders
Authors: Mancini Grazia MS , Verheijen Frans W
Published: September 2006

The lysosomal membrane contains several types of transporter including solute carriers, pumps and channels. Genetic disorders of these transporters cause many different neurological and visceral diseases, ranging from developmental to degenerative disorders.
Hepatocellular Carcinoma
Authors: Elmore Lynne W , Wang Xin Wei , Harris Curtis C
Published: September 2006

The worldwide prevalence, unique geographical distribution and well‐established etiology of hepatocellular carcinoma have provided a strong impetus for elucidating mechanisms underlying the development of this aggressive malignancy. A better understanding of the specific molecular features of hepatocarcinogenesis has revealed clues for novel preventative and therapeutic strategies.
Heat Shock Proteins (HSPs): Structure, Function and Genetics
Authors: Pirkkala Lila , Sistonen Lea
Published: September 2006

Heat shock proteins are evolutionarily well‐conserved, ATP‐binding proteins that function as molecular chaperones in facilitating protein folding and degradation. They are expressed constitutively in various cell types, but the expression of certain family members is strongly induced in response to stress stimuli.
Megasatellite DNA
Authors: Gondo Yoichi , Ikeda Joh‐E
Published: September 2006

Megasatellite DNA, one of the satellite DNA families, is defined as large, head‐to‐tail, tandem repetitive sequences. The RS447 megasatellite DNA found on human 4p16.1 consists of 20–100 copies of the 4746‐base pair (bp) unit sequence, in which an open reading frame of 1590 bp encodes USP17 (ubiquitin‐specific protease 17). The copy number of RS447 is hypervariable and highly polymorphic within as well as among mammalian species; on the other hand, the unit sequences of RS447 within species are extremely homologous.
Exonic Splicing Enhancers
Authors: Fedorov Alexei , Fedorova Larisa
Published: September 2006

Exonic splicing enhancers (ESEs) are short motifs in exons that promote both constitutive and alternative splicing. Several splicing factors, known as SR proteins, bind specifically to ESEs during the initial steps of splicing to initiate assembly of the spliceosomal complex.
DNA Methylation and Histone Acetylation
Authors: Ballestar Esteban , Esteller Manel
Published: September 2006

DNA methylation is central to the establishment and heritability of states of expression. Gene silencing that is dependent on DNA methylation involves histone deacetylation. The relevance of the correct maintenance of these modifications patterns is illustrated by cancer, in which alterations in DNA methylation patterns occur.
Mitochondrial DNA Polymorphisms
Authors: De Benedictis Giovanna , Passarino Giuseppe
Published: September 2006

Many polymorphisms have been identified in human mitochondrial DNA by using different techniques. The polymorphisms found have shed light on the history of human populations and on some complex traits.
Left‐Right Asymmetry in Humans
Authors: Raya Angel , Belmonte Juan Carlos Izpisúa
Published: September 2006

Genetic and epigenetic mechanisms that control the asymmetric disposition of organs in the left–right axis.
Thyroid Dysfunction: Molecular Genetics
Authors: Ludgate Marian , Fuhrer Dagmar
Published: September 2006

The thyroid produces thyroxine (T4) and triiodothyronine (T3). A surplus or a deficit in thyroid hormone production, due to thyroid dysfunction, results in hyper‐ or hypothyroidism respectively. A spectrum of thyroid‐specific gene mutations, implicit in the control of thyroid function and growth, underline the molecular mechanisms leading to thyroid dysfunction.
Molecular Entry Point: Strategies in Proteomics
Authors: Fung Eric T
Published: September 2006

The term proteomics broadly encompasses the characterization of protein expression, structure and function in a global fashion. The breadth of applications requires an equally diverse array of tools and techniques that address these applications.
Bacterial Proteomes
Authors: Jungblut Peter R
Published: September 2006

Proteomes represent the composition of the functional information‐containing macromolecules (proteins) of an organism or a defined part of it. A global view of bacterial proteomes will illuminate basic biological principles such as the functioning of a cell and the elucidation of pathological important proteins for vaccine development, diagnosis and therapy of infectious diseases. Understanding of bacterial proteomes will illuminate basic biological principles such as the functioning of a cell and will allow the elucidation of pathological important proteins for vaccine development, diagnosis and therapy of infectious diseases.
Nucleolar Proteomics
Authors: Couté Yohann , Scherl Alexander , Dieckmann Régis , Callé Aleth , Hoogland Christine , Kindbeiter Karine , Déon Catherine , Greco Anna , Sanchez Jean‐Charles , Diaz Jean‐Jacques , Hochstrasser Denis
Published: September 2006

The nucleolus is a dense membrane‐free nuclear domain, visible by light microscopy. It is known that the nucleolus is the site of ribosomal gene transcription and ribosome assembly. However, it appears that the nucleolus also plays a key role in many other biological processes.
Two‐dimensional Gel Electrophoresis
Authors: Ong Shao‐En , Rosa Liang Cynthia Mui Yee
Published: September 2006

Two‐dimensional gel electrophoresis separates proteins according to their isoelectric points and molecular weight. Recent developments allowing improved resolution, detection and reproducibility, coupled with sensitive protein identification by mass spectrometry has made this methodology one of the most common tools for the study of proteomes in the postgenomic age.
Mass Spectrometry Instrumentation in Proteomics
Authors: Roepstorff Peter
Published: September 2006

The information generated by mass spectrometric analysis is perfectly suited to searching genome sequence databases. Modern mass spectrometric instrumentation allows high confidence protein identification.
Quantitative Proteomics (ICAT™)
Authors: Griffin Timothy J , Sherman Jamie , Aebersold Ruedi
Published: September 2006

An essential aspect of proteomic analysis is the identification and quantification of each protein present in two or more complex mixtures. The use of isotope‐coded affinity tag (ICAT™) reagents and mass spectrometry forms part of quantitative proteomic analysis technology.
Industrialization of Proteomics: Scaling UpProteomics Processes
Authors: Rose Keith
Published: September 2006

The industrial scale approach to biofluid analysis contrasts withthe high throughput approach (using human plasma as an example).
Total Cerebral Blood Flow Estimated by Color Velocity Imaging Quantification Ultrasound: A Predictor for Recurrent Stroke?
Authors: Han Jing Hao , Ho Stella SY , Lam Wynnie WM , Wong Ka Sing
Published: September 2006

Although the Virchow's triad on thrombosis includes reduced blood flow as a factor, there has been relatively little data on the importance of total cerebral blood flow on the risk of subsequent stroke. In the current study, we investigate whether total cerebral blood flow helps predict stroke recurrence. Extracranial arterial blood flow volume estimated by color velocity imaging quantification ultrasound (CVIQ) is an index of cerebral blood flow measurement. We performed a cohort study of 210 consecutive acute stroke patients. Patients were studied with transcranial Doppler and duplex ultrasound for intra- and extracranial large artery disease within 3 days of symptom onset. The association between the risk of recurrent stroke and CVIQ was analyzed with Cox proportional hazards model. Thirty-nine patients (17.7%) developed an ischemic stroke during a mean follow-up of 47.5 months. The mean extracranial blood flow volume was significantly lower for patients who had a recurrent stroke than those without (594.4 ± 130.3 versus 683.8 ± 176.9mL/min; P = 0.003). In a Cox proportional hazards model adjusting for potential confounding variables, extracranial blood flow volume (hazard ratio (HR) for lowest tertile, 4.1; 95% confidence interval (CI), 1.5 to 11.0) along with male sex (HR, 2.5; 95% CI, 1.3 to 5.1), diabetes (HR, 2.5; 95% CI, 1.2 to 5.0) and large artery stenosis (HR, 2.2; 95% CI, 1.1 to 4.4) were independent predictors for stroke recurrence. Our data indicated that patient with low amount of blood flow to the brain is at risk of recurrent stroke.
Growth Factor-Stimulated Generation of New Cortical Tissue and Functional Recovery after Stroke Damage to the Motor Cortex of Rats
Authors: Kolb Bryan , Morshead Cindi , Gonzalez Claudia , Kim Mina , Gregg Christopher , Shingo Tetsuro , Weiss Samuel
Published: September 2006

Recent studies suggest that proliferation in the adult forebrain subventricular zone increases in response to a forebrain stroke and intraventricular infusions of growth factors enhance this response. The potential for growth factor infusions to regenerate the damaged motor cortex and promote recovery of motor function after stroke has not been examined. Here, we report that intraventricular infusions of epidermal growth factor and erythropoietin together, but not individually, promote substantial regeneration of the damaged cerebral cortex and reverse impairments in spontaneous and skilled motor tasks, in a rat model of stroke. Cortical regeneration and functional recovery occurred even when growth factor administration was delayed for up to 7 days after the stroke-induced lesion. Cell tracking demonstrated the contribution of neural precursors originating in the forebrain subventricular zone to the regenerated cortex. Strikingly, removal of the regenerated cortical tissue reversed the growth factor-induced functional recovery. These findings reveal that specific combinations of growth factors can mobilize endogenous adult neural stem cells to promote cortical tissue re-growth and functional recovery after stroke.
Vibrational dynamics of DNA. I. Vibrational basis modes and couplings
Authors: Lee Chewook , Park Kwang-Hee , Cho Minhaeng
Published: September 2006

Carrying out density functional theory calculations of four DNA bases, base derivatives, Watson-Crick (WC) base pairs, and multiple-layer base pair stacks, we studied vibrational dynamics of delocalized modes with frequency ranging from 1400to1800cm−1. These modes have been found to be highly sensitive to structure fluctuation and base pair conformation of DNA. By identifying eight fundamental basis modes, it is shown that the normal modes of base pairs and multilayer base pair stacks can be described by linear combinations of these vibrational basis modes. By using the Hessian matrix reconstruction method, vibrational coupling constants between the basis modes are determined for WC base pairs and multilayer systems and are found to be most strongly affected by the hydrogen bonding interaction between bases. It is also found that the propeller twist and buckle motions do not strongly affect vibrational couplings and basis mode frequencies. Numerically simulated IR spectra of guanine-cytosine and adenine-thymine bases pairs as well as of multilayer base pair stacks are presented and described in terms of coupled basis modes. It turns out that, due to the small interlayer base-base vibrational interactions, the IR absorption spectrum of multilayer base pair system does not strongly depend on the number of base pairs.