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This volume of the Human Molecular Genetics series covers such genotype-phenotype correlations as clinical and environmental aspects, gene structure, expression, and mutation. Also discussed are models of certain diseases and future prospects for treatment and prevention. This book provides the reader with a basic overview of the physical expression of genetic disease before discussing in detail the most recent research and therapeutic developments. ... Read more

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Recent advances in understanding the role of protein dysmetabolism in neurodegeneration was the theme of the Fondation IPSEN meeting addressing Genotype-Proteotype-Phenotype relationships. Experts from international laboratories contributed to the  current volume to produce a comprehensive overview of the role of protein misfolding in neurodegeneration. Links between genotype and protein characteristics and between proteotype and clinical phenomenology were discussed across diseases categories. Progress in understanding the role of abnormalities of protein metabolism may lead to the identification of biological markers relevant to disease monitoring and to the development of new therapeutic agents capable of modifying and ameliorating basic neurodegenerative mechanisms.

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Genotype - Proteotype - Phenotype Relationships in Neurodegenerative Diseases
This is an up-to-date review of research in the area of genetics and clinical phenotypes in neurodegenerative diseases, particularly, in ALzheimer's disease. the book provides the newest information and insights into the disease heredity and mechanism and proposes search for new treatments. Very enlightening! ... Read more

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This new edition builds on the success of the first by reviewing the increased understanding of the mechanisms of gene action in humans, focusing particularly on those derived from the study of genetic diseases. It deals mainly with the fundamental aspects of gene arrangement and expression rather than mutation. As well as updating and revising material from the first edition, it covers methods of exploring gene function and contains a range of chapters on specific systems which raise issues of special interest such as imprinting or homologous genes within clusters. ... Read more

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This digital document is an article from Albany Law Review, published by Thomson Gale on September 22, 2005. The length of the article is 4783 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

Citation Details
Title: Aspiring parents, genotypes and phenotypes: the unexamined myth of the perfect baby .
Author: Andrea D. Gurmankin
Publication: Albany Law Review (Magazine/Journal)
Date: September 22, 2005
Publisher: Thomson Gale
Volume: 68Issue: 4Page: 1097(15)

Distributed by Thomson Gale ... Read more

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Neurofibromatosis type 1 (NF1) is one of the most common dominantly inherited neurogenetic disorders. Affecting 1 in 4000 individuals worldwide. Symptoms include facial and body disfigurement, mental retardation and abnormalities of the cardiovascular, renal and endocrine systems.
This book is written for a broad readership ranging from students to professionals. It provides the reader with a basic overview of the disease before discussing the most recent research and therapeutic developments in detail. It is essential reading for medical geneticists, molecular biologists, dermatologists, oncologists, neurologists, genetic counsellors, general practitioners and research students.
The volume attempts to cover clinical aspects of the disease; gene structure, expression and mutation; structural and functional aspects of the encoded protein, neurofibromin; the role of the NF1gene as a tumour suppressor, the emerging genotype-phenotype relationship for NF1, animal models of the disease and future prospects for disease treatment and prevention. ... Read more

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Neurofibromatosis type 1 (NF1) is a common disease affecting 1 in 4000 individuals world-wide.Symptoms include facial and body disfigurement, mental retardation and abnormalities of the cardiovascular, renal and endocrine systems.The book begins with ... Read more

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Information on many genetic disorders, and the frequent new findings on them, has been extremely difficult to come by—until now. The “Gale Encyclopedia of Genetic Disorders” addresses the need for current, hard-to-find facts on emerging discoveries. The two-volume Encyclopedia, presented in a single alphabetical sequence, provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand, in language accessible to laypersons. The articles are arranged in a standardized format for quick comparison and ease of use, while non-disorder topics are covered in detail with extended entries. Students will want to consult the “Gale Encyclopedia of Genetic Disorders” for useful information on a range of well known disorders, including Down Syndrome, Trisomy, Hemophilia and Tourette Syndrome, and rarely seen diseases such as Meckel Syndrome, Neuraminidase Deficiency and Phenylketonuria.

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High Quality Content by WIKIPEDIA articles! Polymorphism in biology occurs when two or more clearly different phenotypes exist in the same population of a species ? in other words, the occurrence of more than one form or morph. In order to be classified as such, morphs must occupy the same habitat at the same time and belong to a panmictic population (one with random mating).Polymorphism is common in nature; it is related to biodiversity, genetic variation and adaptation; it usually functions to retain variety of form in a population living in a varied environment. The most common example is sexual dimorphism, which occurs in many organisms. Other examples are mimetic forms of butterflies (see mimicry), and human haemoglobin and blood types. ... Read more

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Hypophosphatasia (HP)is a rare inherited disorder characterized by defective bone and teeth mineralization, deficiency of serum and bone alkaline phosphatase (AP)activity. The diagnosis is based on serum alkaline phosphatase essay and molecular analysis of the tissue non specific alkaline phosphatase (ALPL) gene.AP participates in tooth formation and is seen in dental and peridental cells. They are mainly seen in the following forms: infantile, childhood, adult and odontoHP. The dental clinical signs consist in mobility of teeth, premature and spontaneous loss of primary and/or permanent teeth without inflammation of the gums, and sometimes in localized enamel hypoplasia. In the milder forms, rarely diagnosed per se, premature exfoliation of teeth is a trigger sign which can leed to a possible diagnosis. In infantile and childhood hypophosphatasia, the anterior primary teeth are generally lost spontaneously before 3 years of age. In the adult forms, the medical history could elicit a memory of early loss of teeth in childhood.Dental management consists in early diagnosis, prevention and prosthodontics. ... Read more

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This digital document is an article from World of Microbiology and Immunology, brought to you by Gale®, a part of Cengage Learning, a world leader in e-research and educational publishing for libraries, schools and businesses.The length of the article is 680 words.The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase.You can view it with any web browser.Covers the concepts, theories, discoveries, and pioneers in microbiology and immunology, using a mix of traditional academic and topical articles, this title addresses current ethical, legal, and social issues with special emphasis given to biological warfare and terrorism. ... Read more

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The “Gale Encyclopedia of Science” is written at a level somewhere between the introductory sources and the highly technical texts currently available. This six-volume set covers all major areas of science and engineering, as well as mathematics and the medical and health sciences, while providing a comprehensive overview of current scientific knowledge and technology. Alphabetically arranged entries provide a user-friendly format that makes the broad scope of information easy to access and decipher. Entries typically describe scientific concepts, provide overviews of scientific areas and, in some cases, define terms.

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This digital document is an article from Macmillan Reference USA Science Library: Genetics, brought to you by Gale®, a part of Cengage Learning, a world leader in e-research and educational publishing for libraries, schools and businesses.The length of the article is 1301 words.The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase.You can view it with any web browser.A comprehensive collection of articles on all aspects of genetics, from Mendel to the decoding of the human genome. Explains the workings of genes and chromosomes, genetic diseases, and biotechnology. Covers the ethical, legal, and social issues connected to genetic science and includes coverage of careers in the field. ... Read more

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In genetics, dominance describes a relationship between different forms alleles of a gene at a particular physical location locus on a chromosome. Typical plants and animals have two sets of chromosomes, one set inherited from each parent, and are described as diploid. They therefore have two alleles at each gene locus. If the two alleles at the same gene locus are identical, the individual is called a homozygote and is said to be homozygous: if instead the two alleles are different, the individual is a heterozygote and is heterozygous. The genetic makeup of an organism, either at a single locus or over all its genes collectively, is called the genotype. The genotype of an organism directly or indirectly affects its molecular, physical, behavioral, and other traits, which individually or collectively are called the phenotype. At heterozygous gene loci, the two alleles interact to produce the phenotype: the interaction can often be described as dominant or recessive. ... Read more

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Webster's bibliographic and event-based timelines are comprehensive in scope, covering virtually all topics, geographic locations and people. They do so from a linguistic point of view, and in the case of this book, the focus is on "Genotype-Phenotype," including when used in literature (e.g. all authors that might have Genotype-Phenotype in their name). As such, this book represents the largest compilation of timeline events associated with Genotype-Phenotype when it is used in proper noun form. Webster's timelines cover bibliographic citations, patented inventions, as well as non-conventional and alternative meanings which capture ambiguities in usage. These furthermore cover all parts of speech (possessive, institutional usage, geographic usage) and contexts, including pop culture, the arts, social sciences (linguistics, history, geography, economics, sociology, political science), business, computer science, literature, law, medicine, psychology, mathematics, chemistry, physics, biology and other physical sciences. This "data dump" results in a comprehensive set of entries for a bibliographic and/or event-based timeline on the proper name Genotype-Phenotype, since editorial decisions to include or exclude events is purely a linguistic process. The resulting entries are used under license or with permission, used under "fair use" conditions, used in agreement with the original authors, or are in the public domain. ... Read more

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Illuminating the processes and patterns that link genotype to phenotype, epigenetics seeks to explain features, characters, and developmental mechanisms that can only be understood in terms of interactions that arise above the level of the gene. With chapters written by leading authorities, this volume offers a broad integrative survey of epigenetics. Approaching this complex subject from a variety of perspectives, it presents a broad, historically grounded view that demonstrates the utility of this approach for understanding complex biological systems in development, disease, and evolution. Chapters cover such topics as morphogenesis and organ formation, conceptual foundations, and cell differentiation, and together demonstrate that the integration of epigenetics into mainstream developmental biology is essential for answering fundamental questions about how phenotypic traits are produced. ... Read more

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This digital document is a journal article from Studies in History and Philosophy of Biol & Biomed Sci, published by Elsevier in 2007. The article is delivered in HTML format and is available in your Amazon.com Media Library immediately after purchase. You can view it with any web browser.

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While the definition of the 'genotype' has undergone dramatic changes in the transition from classical to molecular genetics, the definition of the 'phenotype' has remained for a long time within the classical framework. In addition, while the notion of the genotype has received significant attention from philosophers of biology, the notion of the phenotype has not. Recent developments in the technology of measuring gene-expression levels have made it possible to conceive of phenotypic traits in terms of levels of gene expression. We demonstrate that not only has this become possible but it has also become an actual practice. This suggests a significant change in our conception of the phenotype: as in the case of the 'genotype', phenotypes can now be conceived in quantitative and measurable terms on a comprehensive molecular level. We discuss in what sense gene expression profiles can be regarded as phenotypic traits and whether these traits are better described as a novel concept of phenotype or as an extension of the classical concept. We argue for an extension of the classical concept and call for an examination of the type of extension involved. ... Read more

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An allele is one of a series of different forms of a gene. The word is a short form of allelomorph ('other form'), which was used in the early days of genetics to describe variant forms of a gene detected as different phenotypes. Alleles are now understood to be alternative DNA sequences at the same physical gene locus, which may or may not result in different phenotypic traits. In any particular diploid organism, with two copies of each chromosome, the genotype for each gene comprises the pair of alleles present at that locus, which are the same in homozygotes and different in heterozygotes. A population or species of organisms typically includes multiple alleles at each locus among various individuals. Allelic variation at a locus is measurable as the number of alleles (polymorphism) present, or the proportion of heterozygotes (heterozygosity) in the population. ... Read more

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Dissertation ... Read more