bluuebunny/crossref_metadata_2025_split huggingface dataset:
Heterochromatin: Constitutive
Authors: Larizza Lidia , Doneda Luisa 
Published: September 2006

Abstract
Heterochromatin consists of a variety of nontranscribed tandemly repeated and interspersed repetitive deoxyribonucleic acid DNA sequences. The major classes of tandemly repeated DNA are: satellite DNA, composed of very long arrays mainly found in and around centromeres; minisatellite DNA, composed of moderately sized arrays located at or close to telomeres; and microsatellites, defined by short arrays and dispersed throughout the human genome. long interspersed nuclear elements and short interspersed nuclear elements are the two major classes of interspersed repeats, also referred to as transposon‐derived repeats. Rare fragile sites involve large expansions of microsatellites or minisatellites.
Telomere
Authors: Martin Christa Lese , Ledbetter David H 
Published: September 2006

Abstract
Telomeres, the ‘caps’ at the ends of human chromosomes, consist of specialized DNA and protein complexes that help to protect chromosomes from degradation. Other unique characteristics of telomeric DNA include the sequence homology shared between subtelomeric DNA regions, a high gene density and an increased frequency of chromosomal imbalances.
Epigenetic Factors and Chromosome Organization
Authors: Bourc'his Déborah , Viegas‐Péquignot Evani 
Published: September 2006

Abstract
The term epigenetics was introduced by C. H. Waddington in 1956 to describe all the interactions between genes and their environment that lead to phenotypic expression. Today it is used to define heritable modifications in gene expression that are not based on changes in nucleotide sequence. In mammalian chromosomes, the commonly reported epigenetic markers are cytosine methylation, histone methylation, histone acetylation, histone methylation and noncoding ribonucleic acid and chromosome association.
Gene Distribution on Human Chromosomes
Authors: Bernardi Giorgio , Saccone Salvatore 
Published: September 2006

Abstract
The distribution of genes in the human genome is strikingly nonuniform. Gene density is very high in GC‐rich isochores and very low in GC‐poor isochores (isochores are long DNA regions characterized by a fairly homogeneous GC level). Since GC‐rich and GC‐poor isochores can be localized on human chromosomes, this ‘chromosomal compositional mapping’ provides information on the distribution of genes on chromosomes.
X and Y Chromosomes: Homologous Regions
Authors: El‐Mogharbel Nisrine , Graves Jennifer AM 
Published: September 2006

Abstract
The human X and Y chromosomes have quite different DNA and gene contents, and seem to be completely cytologically nonhomologous. However, they share many homologous regions, the relics of a process of gradual evolution from a homologous autosomal pair into the differentiated pair they are today.
Chromosome 14
Authors: Kamnasaran Deepak , Cox Diane W 
Published: September 2006

Abstract
Human chromosome 14 is an acrocentric chromosome, rich in satellites on the short arm, which contains some 3.4% of the genetic material in the genome. It is characterized by several gene clusters including rRNA, T‐cell receptor, and immunoglobulin heavy chain genes, plus several regions containing imprinted genes.
Chromosome 17
Authors: Wadelius Claes 
Published: September 2006

Abstract
Human chromosome 17 is a submetacentric chromosome containing 2.6% of the genetic material in the genome. It has a greater number of genes than expected for its size, a G+C content above average and a large number of CpG islands. It is characterized by several gene clusters including those encoding homeobox B, olfactory receptors, type I keratins and SnRNAs.
Histones
Authors: Doenecke Detlef , Albig Werner 
Published: September 2006

AbstractHistones, the major protein constituents of the eukaryotic chromosomes, are small proteins that are enriched in basic amino acids and highly conserved in evolution. They are classified either on the basis of their content of basic amino acids as very lysine rich (H1), moderately lysine rich (H2A and H2B) and arginine rich (H3 and H4), or in respect to their position in the nucleosome as linker or core histones.
Microsatellites
Authors: Epplen Jörg T , Böhringer Stefan 
Published: September 2006

Abstract

Microsatellites are short, tandemly arranged repetitive
deoxyribonucleic acid
(
DNA
) elements scattered throughout most genomes. The basic unit lengths of microsatellites (or simple
DNA
sequence repeats) comprise up to six nucleotides and these motifs are perfectly reiterated from five to more than 100 times.
Methylation‐mediated Transcriptional Silencing in Tumorigenesis
Authors: Horan Martin P 
Published: September 2006

Abstract
Deoxyribonucleic acid (DNA) methylation is a process that inhibits the expression of genes through mechanisms that interfere with transcriptional initiation. Transcriptional silencing occurs when the 5′ flanking DNA region becomes heavily methylated, thereby interfering with the binding capacity of transcription factors. The effect of DNA hypermethylation is to reduce the expression potential of a gene.
Human Developmental Molecular Genetics
Authors: Wilson David Ian , Hanley Neil Anthony 
Published: September 2006

Abstract
Following the sequencing of the human genome, it is an ambitious but realistic goal to understand the genome‐wide molecular regulation of normal human development, both during the embryonic (<56 days post conception (dpc)) and fetal periods (>56 dpc). The use of human pluripotent embryonic cells as far‐sighted transplantation and regeneration strategies to treat human disease is an aspect of this topic.
Multiple Significance Testing in Genetic Epidemiology
Authors: Krawczak Michael 
Published: September 2006

Abstract

The simultaneous testing of multiple hypotheses in one and the same study tends to inflate the overall probability of obtaining one or more false positive results. Several methods have been devised to control this study‐wise global false positive rate through the adjustment of the test‐specific significance threshold applied to
p
‐values. The necessity of adjusting the significance levels in genetic analyses of complex human traits has, however, been a matter of scientific debate.
Microarrays in Toxicological Research
Authors: Pennie William D 
Published: September 2006

Abstract
Toxicologists are increasingly applying oligonucleotide and complementary DNA microarrays in an attempt to understand adverse chemical reactions that occur during gene transcription. When applied in concert with the more established approaches of biochemical toxicology, pathology and so on, the appropriate use of these microarrays is improving our fundamental knowledge of mechanisms of toxicity and will have profound impact on safety assessment processes in the discovery and development of new pharmaceuticals.
Microarrays: Use in Mutation Detection
Authors: Syvänen Ann‐Christine 
Published: September 2006

Abstract
Microarrays are used in assay formats that allow parallel analyses of tens, hundreds or thousands of biomolecules in very small reaction volumes. One of the many application areas of the microarray format is to genotype or detect disease‐causing or disease‐predisposing mutations in the human genome for diagnostics, carrier identification and pharmacogenetic profiling.
Handedness, Left/Right: Genetics
Authors: Jones Gregory V , Martin Maryanne 
Published: September 2006

Abstract
A notable characteristic of the human species is that a majority of its population tends to favor the use of the right hand rather than the left, while a minority tends to favor the use of the left hand rather than the right. It has been often proposed that this pattern of behavior, although subject to modulation by social and other factors, represents a manifestation of underlying genetic variation.
DNA Coiling and Unwinding
Authors: Hugodot Yannick , Duguet Michel 
Published: September 2006

Abstract
The double‐helical structure of DNA and its higher orders of coiling are tightly controlled by two classes of enzyme, helicases and topoisomerases. These are part of large protein complexes that control the main DNA transactions within the cell. In humans, defects in these enzymes may result in various diseases.
Circadian Rhythm Genetics
Authors: van der Horst Gijsbertus TJ , Chaves Inês 
Published: September 2006

Abstract
Circadian clocks drive cyclic changes in behavior, physiology and metabolism, have a periodicity of about 24 h, and are entrained to the earthly day–night cycle by light. The circadian oscillator is composed of an autoregulatory feedback loop of clock genes that positively and negatively affect their own transcription levels and each other's.
Cre–
lox
‐Inducible Gene Targeting
Authors: Sauer Brian 
Published: September 2006

Abstract
Cre is a site‐specific DNA recombinase that is useful for either targeted excision or activation of a desired gene in the genome in a temporally and spatially controlled manner. Cre‐based recombination strategies also permit the design of precise chromosome translocations, deletions and duplications, which facilitate the genetic manipulation of the eukaryotic genome.
Noncoding RNAs: A Regulatory Role?
Authors: Mattick John Stanley 
Published: September 2006

Abstract
Around 97–98% of the transcriptional output of the human genome is noncoding RNA, which is derived from noncoding RNA genes and from introns in protein‐coding genes. These RNAs may form a higher‐order regulatory network that integrates complex suites of gene activity during differentiation and development.
Histone Acetylation: Long‐range Patterns in the Genome
Authors: Bresnick Emery H , Im Hogune , Johnson Kirby D 
Published: September 2006

AbstractModification of core histones by acetylation establishes a chromatin environment permissive for gene expression. Complex patterns of acetylation spanning many kilobases have been identified at certain loci. However, little is known about the regulation and functional consequences of these broad domains of acetylation.
Complement System and
Fc
Receptors: Genetics
Authors: Roos Anja , Trouw Leendert A , Ioan‐Facsinay Andreea , Daha Mohamed R , Verbeek J Sjef 
Published: September 2006

Abstract
The complement system is a key component of the innate immune system that is involved in eliminating unwanted self and nonself material via cellular and humoral mechanisms. Complement receptors and Fc receptors, expressed on effector cells, have a synergistic role in antibody‐mediated immune modulation and antigen clearance.
Protein Misfolding and Degradation in Genetic Disease
Authors: Bross Peter , Andresen Brage S , Corydon Thomas J , Gregersen Niels 
Published: September 2006

AbstractMolecular disease mechanisms in genetic deficiencie often center on missense mutations and amino‐acid deletions and insertions which affect the folding process, and/or the stability of the folded structure, of proteins.
Friedreich Ataxia
Authors: Koenig Michel 
Published: September 2006

Abstract
Friedreich ataxia is the most common cause of inherited ataxia in Caucasian populations. It affects the spinal cord and the heart, is of autosomal recessive inheritance and is due to the partial deficiency of a mitochondrial protein, frataxin, thought to be involved in the biogenesis of iron–sulfur clusters. The major mutation is a trinucleotide repeat expansion in intron 1 of the frataxin gene, which causes reduced synthesis of the corresponding transcript.
Tay–Sachs Disease
Authors: Mahuran Don J 
Published: September 2006

AbstractTay–Sachs disease was first described in the late nineteenth century. Not only has it served as a model for other lysosomal storage diseases but, as its disease mechanisms have been elucidated, other biological processes have been identified and characterized. Interestingly, mouse models of the disease do not produce a phenotype until very late in life, demonstrating that data from mice cannot always be extrapolated to humans.
Blood Groups: Molecular Genetic Basis
Authors: Avent Neil D 
Published: September 2006

Abstract
Human blood groups are of clinical significance in transfusion medicine and blood group incompatible pregnancy. Blood groups are due to polymorphic structures on human red cells, may arise from carbohydrates or proteins and include most species of proteins found in red cell membranes including transporters, adhesion molecules, structural proteins, complement control proteins, receptors and membrane‐bound enzymes.
Skin Pigmentation: Genetics
Authors: Rees Jonathan L 
Published: September 2006

Abstract
Differences in skin pigmentation are principally due to variation in the amount and type of melanin produced in cutaneous melanocytes. In humans, a large number of Mendelian disorders of pigmentation, including albinism, are now understood at a genetic level. Only one locus, the melanocortin 1 receptor, has been so far identified to contribute to normal variation in skin and hair color, but it is clear that many other loci (yet to be determined) must also play a role.
Spontaneous Function Correction of Pathogenic Alleles in Inherited Diseases Resulting in Somatic Mosaicism
Authors: Waisfisz Quinten , Joenje Hans 
Published: September 2006

Abstract
Inherited mutations can cause disease, but in monogenic disease correction of just one pathogenic mutation can lead to somatic mosaicism and revert the phenotype, which may ameliorate symptoms. The diseases for which this ‘natural gene therapy’ has been described include Fanconi anemia and Wiskott–Aldrich syndrome, among others.
Gene Amplification and Cancer
Authors: Uchida Kazuhiko 
Published: September 2006

Abstract
Several types of alterations in the deoxyribonucleic acid (DNA) of somatic cells can induce phenotypic changes that lead to cancer, and gene amplification is the most frequently observed type of genetic change associated with cancer. The mechanisms of gene amplification are not well understood, but better understanding of the role played by gene amplification in cancer may lead to new cancer biomarkers and improved prognostic and diagnostic indicators of cancer progression.
Caretakers and Gatekeepers
Authors: Russo Antonio , Migliavacca Manuela , Zanna Ines , Macaluso Marcella , Gebbia Nicola , Bazan Viviana 
Published: September 2006

Abstract
It has now been generally accepted that the genes responsible for familial cancer syndromes can be divided into two categories, known as caretakers and gatekeepers. Caretakers are genes that control the maintenance of the genetic information integrity in each cell while gatekeepers are those genes which directly regulate tumor growth, codifying for proteins which either stimulate or inhibit proliferation, differentiation or apoptosis.
Oncogenic Kinases in Cancer
Authors: Tsatsanis Christos , Zafiropoulos Alexandros , Spandidos Demetrios A 
Published: September 2006

Abstract
Oncogenesis involves the generation and transmission of signals that result in alterations of cell morphology, deregulation of the cell cycle and apoptosis. Transmembrane or cytoplasmic tyrosine and serine/threonine kinases participate both directly and indirectly in cell transformation and tumorigenesis.
Prostate Cancer
Authors: Vogel Walther , Maier Christiane , Paiss Thomas 
Published: September 2006

Abstract
Prostate cancer is a complex disease with an etiology attributed to both genetic and environmental factors. Hereditary prostate cancer is thought to be caused by multiple high‐risk genes following a complex or polygenic pattern. Low‐risk genes may be involved in a significant proportion of sporadic prostate cancers.
DNA Helicase‐deficiency Disorders
Authors: Levitt Nicola C , Hickson Ian D 
Published: September 2006

Abstract
Bloom syndrome, Werner syndrome and Rothmund–Thomson syndrome are three human disorders that are associated with premature aging and a predisposition to the development of malignancy. Each of these disorders is caused by a defect in a member of the RecQ family of DNA helicases, enzymes that separate the complementary strands of double‐stranded DNA.
Translocation Breakpoints in Cancer
Authors: Oliveira Andre Mascarenhas , Fletcher Jonathan Alfred 
Published: September 2006

Abstract
Chromosomal translocations are structural abnormalities generated by double‐strand DNA breakages in two or more chromosomes, followed by reciprocal exchange of the segments between the chromosomes. In cancer cells, these translocations often juxtapose regulatory or coding sequences from two different genes, resulting in highly activated oncogenes that regulate proliferation, apoptosis and other aspects of the neoplastic phenotype. Many such translocation‐associated oncogenes have been described in human cancers.
Barrett Esophagus
Authors: Maley Carlo C , Reid Brian J 
Published: September 2006

Abstract
The evolution of neoplastic cell lineages in Barrett esophagus is dominated by mutation, natural selection and genetic drift. The esophageal environment and therapies select for clones with competitive advantages that undergo selective sweeps, driving other cell types to extinction and providing a mechanism for expansion of neutral mutations as hitchhikers on the sweep.
Retinitis Pigmentosa
Authors: Wang Qing , Chen Qiuyun 
Published: September 2006

Abstract
Retinitis pigmentosa is a heterogeneous group of retinal dystrophies that are characterized by photoreceptor cell degeneration, night blindness, a gradual loss of peripheral visual fields and eventual loss of central vision. Several genes responsible for the development of retinitis pigmentosa have now been identified and cloned, and these discoveries have defined the genetic pathways for pathogenesis of retinitis pigmentosa.
DiGeorge Syndrome and Velocardiofacial Syndrome (VCFS)
Authors: Scambler Peter 
Published: September 2006

Abstract

DiGeorge and velocardiofacial syndromes result from a chromosomal deletion involving proximal chromosome 22, and affected individuals commonly present with congenital heart defects, feeding problems, speech delay and learning problems. The creation of mouse models that mimic the human disorder has identified that the
Tbx1
transcription factor gene is the major dosage‐sensitive gene in the deletion region and has allowed exploration of the underlying developmental pathways disrupted in these syndromes.
Globin Genes: Polymorphic Variants and Mutations
Authors: Old John Michael 
Published: September 2006

Abstract
The globin genes encode the globin chains that make up hemoglobin (Hb). More than 1000 polymorphic variants of the globin genes have been characterized, consisting of single nucleotide substitutions through to complex gene rearrangements. Most globin gene mutations either alter the amino acid sequence of a globin chain, creating an abnormal hemoglobin such as Hb S, or cause a reduction in the synthesis of one or more normal globin chains (the thalassemia disorders). A few mutations cause both types of defect, while others are simple natural polymorphisms that are used as DNA markers.
Gonadotropin Hormones: Disorders
Authors: Achermann John C , Jameson J Larry 
Published: September 2006

Abstract
Abnormalities in gonadotropin hormone release and function can arise from mutations in a variety of genes expressed throughout the hypothalamic–pituitary (gonadotrope)–gonadal axis. The identification and characterization of these naturally occurring mutations are providing important information about the reproductive axis in humans and may result in improved treatment and counseling for patients with infertility problems.
Hypertrophic Cardiomyopathy
Authors: Semsarian Christopher , Chung Man‐Wei 
Published: September 2006

Abstract
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder characterized by cardiac hypertrophy. Discovery of the genetic basis of HCM has had a major impact on understanding disease pathogenesis, diagnosis and clinical management. Future studies will further elucidate these areas and improve our understanding of cardiac biology and function.
DNA Damage Response
Authors: Khanna Kum Kum , Tibbetts Randal S 
Published: September 2006

AbstractThe deoxyribonucleic acid (DNA) damage response pathway is a surveillance network whereby lesions are eliminated from DNA. DNA damage response detects aberrant DNA and chromosomal structures and coordinates it in some manner with each of the other DNA transactions, including regulation of the cell cycle, DNA repair, replication and under some circumstances the triggering of programmed cell death. Many aspects of DNA damage signaling are highly conserved throughout evolution.
Endometrial Cancer
Authors: Ellenson Lora Hedrick 
Published: September 2006

Abstract
Endometrial cancer is the most common malignancy of the female genital tract in the United States. Molecular studies have led to key insights into the pathogenesis of endometrial carcinoma and have provided a genetic basis for the current broad classification of this common malignancy. The recent development of a mouse model will promote studies aimed at understanding the interaction of genetic alterations and hormones in the pathogenesis of endometrioid carcinoma.
Mitochondrial DNA: Fate of the Paternal Mitochondrial Genome
Authors: Cummins Jim 
Published: September 2006

Abstract
Elimination of the paternal mitochondrial deoxyribonucleic acid among most eukaryotic organisms is achieved by a diverse array of species‐ and strain‐specific mechanisms that help to ensure homoplasmy (a single type of genome), probably to suppress the possibility of invasion of selfish genetic elements. This may reflect the outcome of hierarchical selection pressures on multiple genomes.
Desmin‐related Myopathies
Authors: Goldfarb Lev G , Vicart Patrick , Goebel Hans H 
Published: September 2006

Abstract
Outstanding progress in elucidating the pathology of muscular disorders at light and electron microscopic levels has allowed the identification of proteins involved in pathological alterations. This, in turn, has led to discoveries of multiple genes and mutations associated with previously poorly understood conditions. An unexpected result is that phenotypically similar and pathogenetically related neuromuscular disorders are associated with mutations in one or the other of several interacting proteins.
Thyroid Cancer: Molecular Genetics
Authors: Ludgate Marian , Evans Carol 
Published: September 2006

Abstract
The thyroid comprises two specialized cell types, follicular thyrocytes and C cells. Papillary and follicular cancers are differentiated carcinomas of thyrocytes; medullary cancers arise from the C cells. A spectrum of thyroid‐specific and nonspecific gene mutations and rearrangements underlines the molecular mechanisms resulting in thyroid cancer.