bluuebunny/crossref_metadata_2025_split huggingface dataset:
Retroviral Vectors in Gene Therapy
Authors: Miller A Dusty 
Published: September 2006

Abstract
Retroviruses have a positive‐strand nonsegmented RNA genome that undergoes reverse transcription to a double‐stranded DNA form prior to random integration into the genome of a target cell in a form called the provirus. The provirus is transcribed into mRNAs that encode the viral proteins, and these proteins package the full‐length genomic mRNA into virions to complete the virus life cycle. Retroviral vectors are retroviruses engineered to transfer and integrate specific DNA sequences into the genomes of target cells, and are often designed to be replication‐defective to avoid further spread after the initial transfer event. Gene transfer and expression by a replication‐defective retroviral vector is referred to as transduction to differentiate this process from infection by a typical virus that leads to virus production and spread.
Lentiviral Vectors in Gene Therapy
Authors: Lever AML 
Published: September 2006

Abstract
Lentiviruses are a family of retroviruses capable of inserting their genome into the genetic material of dividing and nondividing cells. Retroviral vectors based on lentiviruses retain these properties, and have been developed as candidate therapeutic agents for gene delivery to cells of the central nervous system, muscle and hepatocytes as well as antigen‐presenting cells in the immune system.
Cystic Fibrosis: Gene Therapy
Authors: Flotte Terence R , Virella‐Lowell Isabel 
Published: September 2006

Abstract
Cystic fibrosis is an autosomal recessive disease caused by mutations of the CFTR protein, a member of the ATP‐binding cassette superfamily of transmembrane proteins. CFTR can act as a cAMP‐activated chloride channel and as a regulator of other ion channels in exocrine glands and other ductular structures.
Cell Cycle: Chromosomal Organization
Authors: Cremer Marion , Schermelleh Lothar , Solovei Irina , Cremer Thomas 
Published: September 2006

Abstract
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

Abstract
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

Abstract
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.
Major Histocompatibility Complex (MHC) Genes
Authors: Kulski Jerzy K , Inoko Hidetoshi 
Published: September 2006

AbstractMHC 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.
Ovalbumin Serpins
Authors: Bird Phillip I , Silverman Gary A 
Published: September 2006

Abstract
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.
Facioscapulohumeral Muscular Dystrophy (FSHD): Genetics
Authors: Upadhyaya Meena 
Published: September 2006

Abstract
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

AbstractSister 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.
Chromosome Y
Authors: Affara Nabeel A , Sargent Carole A 
Published: September 2006

Abstract
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

Abstract
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.
Tuberous Sclerosis: Genetics
Authors: Cheadle Jeremy P , Sampson Julian R 
Published: September 2006

Abstract

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

Abstract
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.
Microarrays and Single Nucleotide Polymorphism (SNP) Genotyping
Authors: Metspalu Andres 
Published: September 2006

Abstract
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

Abstract
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: 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

Abstract
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.
Germ Plasm and the Molecular Determinants of Germ Cell Fate
Authors: Eddy Edward Mitchell 
Published: September 2006

AbstractGerm 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.
m
RNA
Stability and the Control of Gene Expression
Authors: Liebhaber Stephen A 
Published: September 2006

Abstract
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

Abstract
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

Abstract
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.
Cell Cycle Control: Molecular Interaction Map
Authors: Kohn Kurt W , Aladjem Mirit I , Pasa Stefania , Parodi Silvio , Pommier Yves 
Published: September 2006

AbstractComplex 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

Abstract
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.
Genetic Disease: Prevalence
Authors: Zlotogora Joel 
Published: September 2006

Abstract
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.
Demyelinating Neuropathies: Hereditary
Authors: Hanemann Clemens Oliver 
Published: September 2006

AbstractHereditary 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.
Spinal Muscular Atrophy
Authors: Schmalbruch Henning 
Published: September 2006

Abstract
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.
Charcot–Marie–Tooth Disease and Associated Peripheral Neuropathies
Authors: Inoue Ken , Lupski James R 
Published: September 2006

Abstract

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.
Orofacial Clefting
Authors: Dixon Michael J , Murray Jeffrey C 
Published: September 2006

Abstract
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.
Genotype–Phenotype Relationships: Fatal Familial Insomnia and Creutzfeldt–Jakob Disease
Authors: Goldfarb Lev G 
Published: September 2006

Abstract

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

AbstractPosition 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.
Tumor Formation: Number of Mutations Required
Authors: Boland C Richard 
Published: September 2006

Abstract
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

Abstract
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

Abstract
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

Abstract
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.
Renal Carcinoma and von Hippel–Lindau Disease
Authors: Maxwell Patrick H 
Published: September 2006

Abstract
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.
Telomeres and Telomerase in Aging and Cancer
Authors: Ouellette Michel M 
Published: September 2006

Abstract
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.
Iron Metabolism: Disorders
Authors: Andrews Nancy C 
Published: September 2006

Abstract
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

Abstract
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

Abstract
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

Abstract
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

Abstract
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

AbstractDevelopment 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

Abstract
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.
Hepatocellular Carcinoma
Authors: Elmore Lynne W , Wang Xin Wei , Harris Curtis C 
Published: September 2006

Abstract
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

AbstractHeat 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

Abstract
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.