Search results for: mosaicism-in-human-skin

Mosaicism in Human Skin

Author : Rudolf Happle
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Mosaicism is a powerful biologic concept, originally developed from studying plants and animals. All cutaneous neoplasms, both benign and malignant, reflect mosaicism, which is the necessary basis to explain numerous human skin disorders. For example, various mosaic patterns visualize the embryonic development of human skin and X-linked skin disorders explain why women live longer than men, and so on. This book presents, for the first time, a comprehensive overview on the strikingly manifold patterns and peculiarities of mosaic skin disorders. This reader-friendly structured and straightforward publication will help the dermatologist to understand the underlying molecular mechanisms of skin disorders in order to further improve the treatment outcome.

Pediatric Skin of Color

Author : Nanette B. Silverberg
File Size : 59.16 MB
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​Pediatric Skin of Color is the first textbook devoted to the issues of pediatric skin of color. In 2052, more than fifty percent of the United States will be of color, and currently seventy percent of the world's population is termed of color. Therefore, this book fills the need for an instructional and educational referebce work regarding these populations. Pediatric Skin of Color​ discusses the biology and clinical data regarding normal skin, skin conditions exclusive to individuals of color, systemic diseases of individuals of color that have a strong component of skin involvement, and the appearance and demographics of common skin diseases, comparing Caucasian and all skin of color populations. Written for dermatologists and pediatric dermatologists, this text includes data on African American, Asian (Southeast and East), Hispanic/Latino, and Middle Eastern patients, as well as Indigenous populations (i.e. Native Americans, Aborigines).

Genetic Mosaicism

Author : János Szabad
File Size : 68.59 MB
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The presence of green and yellow ornamental plants around us, dark spots on our skin, people with brown and blue mosaic irises, and white-spotted dogs and horses are all well-known phenomena of life, and are recognisable genetic mosaics. Although such genetics mosaics live with us (and, in fact, we are all a genetic mosaics), little is known about the genetic bases of their origin. This book provides a general overview of the mechanisms that lead to the formation of different types of mosaics, listing an ample collection of examples to illustrate the impact of the genetic mosaics on our life. The book will appeal to the reader interested in understanding the relationship between genetic events and mosaicism, especially undergraduate and graduate students and medical doctors, as well as experts engaged in horticulture and animal breeding.

Pediatric Dermatology E Book

Author : Lawrence A. Schachner
File Size : 65.87 MB
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The latest edition of Pediatric Dermatology, edited by Lawrence A. Schachner, MD and Ronald C. Hansen, MD brings you the detailed guidance you need to effectively diagnose and treat pediatric skin conditions. Review topics from keratinization to stem cell therapy, and gain expert guidance from international contributors. Now in a comprehensive format with 40% all new clinical photos, this resource is ideal for clinical practice. Refer to full-color photographs that accurately capture the appearance of a wide range of skin disorders. Access many new tables and therapeutic algorithms for at-a-glance guidance. Recognize distinguishing factors in skin lesions with 40% new and improved clinical photographs. Find extended coverage of topics like genodermatoses and disorders of keratinization, review excellent information on skin neoplasms in children, new systemic therapies, and viral disorders, and explore new concepts in autoinflammatory disorders and Kawasaki’s disease. Read up on best practices and stay at the forefront of your profession with new perspectives from a host of international contributors like new Associate Editor Antonio Torrello, who co-edits the Pediatric Dermatology journal.

Human Cytogenetic Cancer Markers

Author : Sandra R. Wolman
File Size : 90.17 MB
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Seventeen cutting-edge chapters review both basic research and clinical applications of chromosomal markers of cancer. The new markers offer great promise, not only for their clinical utility in diagnosis, prognosis, and disease monitoring, but also for their contributions to a better understanding of the mechanisms of tumor development and progression. The chapters-all written by leading authorities-skillfully reveal fresh insights into the translational role of cytogenetics in identifying the cellular and molecular changes that occur in cancer. Coverage is devoted to many tissue systems-colon, breast, prostate, lung, skin, brain, and kidney-where the diagnostic and prognostic utility of chromosome markers is clearly demonstrated. A seminal book certain to become the front-line reference and authoritative resource needed by all scientists and clinicians engaged in cancer research, diagnosis, and management.

Chromosome Mutation and Neoplasia

Author : James German
File Size : 67.4 MB
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Atlas of Genodermatoses

Author : Gianluca Tadini
File Size : 47.39 MB
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Diagnosing a genetic skin disease can sometimes be a difficult task for a dermatologist. This is especially true for genodermatoses-generally considered rare diseases seldom seen by practicing clinicians. As a result, professionals often have little experience with their diagnosis. The Atlas of Genodermatoses presents a unique collection of such ca


Author : Electra Nicolaidou
File Size : 53.51 MB
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There are many disorders of a lack of pigmentation in the skin, with different causations and effects, of which vitiligo is only the best known; this comprehensive text from international experts will enable clinicians to diagnose the full range of these conditions and suggest the most effective management options for their patients. Contents: Basic concepts of melanocyte biology * Approach to hypopigmentation * Historical review of vitiligo * Epidemiology and classification of vitiligo * Pathophysiology of vitiligo * Segmental vitiligo * Childhood versus post-childhood vitiligo * Pharmacological therapy of vitiligo * Surgical treatment of vitiligo * Phototherapy and lasers in the treatment of vitiligo * Emerging treatments for vitiligo * Tuberous sclerosis complex * Oculocutaneous albinism * Hermansky-Pudlak syndrome, Chediak-Chigasi syndrome, and Griscelli syndrome * Piebaldism * Waardenburg syndrome * Alezzandrini syndrome, Margolis syndrome, Cross syndrome, and other rare genetic disorders * Mosaic hypopigmentation * Skin disorders causing post-inflammatory hypopigmentation * Infectious and parasitic causes of hypopigmentation * Melanoma leukoderma * Halo nevi * Drug-induced hypopigmentation * Hypopigmentation from chemical and physical agents * Guttate hypomelanosis and progressive hypomelanosis of the trunk (progressive macular hypomelanosis)

Genomics Circuits and Pathways in Clinical Neuropsychiatry

Author : Thomas Lehner
File Size : 77.67 MB
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This foundational work comprehensively examines the current state of the genetics, genomics and brain circuitry of psychiatric and neurological disorders. It consolidates discoveries of specific genes and genomic regions associated with these conditions, the genetic and anatomic architecture of these syndromes, and addresses how recent advances in genomics are leading to a reappraisal of the biology underlying clinical neuroscience. In doing so, it critically examines the promise and limitations of these discoveries toward treatment, and to the interdisciplinary nature of understanding brain and behavior. Coverage includes new discoveries regarding autism, epilepsy, intellectual disability, dementias, movement disorders, language impairment, disorders of attention, schizophrenia, and bipolar disorder. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry focuses on key concepts, challenges, findings, and methods in genetics, genomics, molecular pathways, brain circuitry, and related neurobiology of neurologic and psychiatric disorders. Provides interdisciplinary appeal in psychiatry, neurology, neuroscience, and genetics Identifies key concepts, methods, and findings Includes coverage of multiple disorders from autism to schizophrenia Reviews specific genes associated with disorders Discusses the genetic architecture of these syndromes Explains how recent findings are influencing the understanding of biology Clarifies the promise of these findings for future treatment

Postzygotic Mutations of RHOA Cause a Mosaic Neuroectodermal Syndrome

Author : Pierre Vabres
File Size : 25.48 MB
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Skin hypopigmentation along Blaschkou2019s lines, also known as hypomelanosis of Ito (HI) is considered a non-specific manifestation of mosaicism. Besides various mosaic chromosomal anomalies, only MTOR mutations in HI with hemimegalencephaly have been reported as an underlying single gene anomaly. Here we report on a novel mosaic neuroectodermal syndrome associated with postzygotic RHOA mutations. We studied six unrelated patients ascertained through our Mosaic Undiagnosed Skin Traits And Related Disorders (M.U.S.T.A.R.D.) project. All had a hitherto undescribed mosaic neuroectodermal syndrome, with a strikingly similar combination of linear hypopigmentation and hypotrichosis along Blaschkou2019s lines, facial dysmorphism, ocular and dental anomalies, short fingers and toes, and asymptomatic leukoencephalopathy on MRI. We initially performed whole-exome sequencing (WES) in affected skin from two patients, and identified the same postzygotic variant of RHOA in both probands, absent in their parentsu2019 blood. This variant with a high pathogenicity score was also found in two unrelated individuals with a similar phenotype by targeted ultra-deep sequencing of RHOA. The fifth patient carried another postzygotic RHOA variant, detected by WES. In the sixth patient, no changes were detected. Transfection of NIH 3T3 cells with these mutant RhoA constructs resulted in reduced cell spreading, decreased stress fiber formation, and decreased phosphorylation of downstream effectors of RhoA, MYPT2 and MLC2, suggesting a dominant-negative effect of both variants. RHOA encodes RhoA, a RAS-related Rho GTPase, which controls morphogenesis, chemotaxis, axonal guidance, and cell cycle progression. RhoA is a highly conserved protein particularly intolerant to amino acid substitutions. Hence, RHOA mutations are likely to be embryonic lethal and may survive only by mosaicism. Our findings highlight the role of RHOA in human development and disease, and expand the clinical spectrum of mosaic neuroectodermal syndromes.

Biomarkers of Human Aging

Author : Alexey Moskalev
File Size : 54.88 MB
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This book collects and reviews, for the first time, a wide range of advances in the area of human aging biomarkers. This accumulated data allows researchers to assess the rate of aging processes in various organs and systems, and to individually monitor the effectiveness of therapies intended to slow aging. In an introductory chapter, the editor defines biomarkers of aging as molecular, cellular and physiological parameters that demonstrate reproducible changes - quantitative or qualitative - with age. The introduction recounts a study which aimed to create a universal model of biological age, whose most predictive parameters were albumin and alkaline phosphatase (indication liver function), glucose (metabolic syndrome), erythrocytes (respiratory function) and urea (renal function). The book goes on to describe DNA methylation, known as the “epigenetic clock,” as currently the most comprehensive predictor of total mortality. It is also useful for predicting mortality from cancer and cardiovascular diseases, and for analyzing the effects of lifestyle factors including diet, exercise, and education. Individual contributions draw additional insight from research on genetics and epigenetic aging markers, and immunosenescence and inflammaging markers. A concluding chapter outlines the challenge of integrating of biological and clinical markers of aging. Biomarkers of Human Aging is written for professionals and practitioners engaged in the study of aging, and will be useful to both advanced students and researchers.

Pluripotent Stem Cells Advances in Research and Application 2013 Edition

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Pluripotent Stem Cells—Advances in Research and Application: 2013 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about ZZZAdditional Research in a concise format. The editors have built Pluripotent Stem Cells—Advances in Research and Application: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about ZZZAdditional Research in this book to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Pluripotent Stem Cells—Advances in Research and Application: 2013 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at

Human Interphase Chromosomes

Author : Ivan Iourov
File Size : 73.22 MB
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Rook s Textbook of Dermatology

Author : Tony Burns
File Size : 36.76 MB
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The late Arthur Rook established the Textbook of Dermatology as the most comprehensive work of reference available to the dermatologist and it enjoys instant name recognition. Each subsequent edition has been expanded as the subject has developed and the book remains the ultimate source of clinical information for the trainee and practising dermatologist alike. Rook's Textbook of Dermatology covers all aspects of skin disease from basic science through pathology and epidemiology to clinical practice. Long recognized for its unparalleled coverage of diagnosis, this clinical classic earned its reputation as a definitive source of information. New features of this Seventh Edition include: Two new Editors, Neil Cox and Christopher Griffiths, join the team Every chapter is updated and several are completely rewritten from scratch Completely new chapter on AIDS and the Skin Traditional emphasis on diagnosis preserved More coverage of treatment in each of the disease-specific chapters


Author : Jean L. Bolognia
File Size : 40.12 MB
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Research Frontiers in Aging and Cancer

Author :
File Size : 34.39 MB
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Dermatology E Book

Author : Jean L. Bolognia
File Size : 82.11 MB
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Dermatology, edited by world authorities Jean L. Bolognia, MD, Joseph L. Jorizzo, MD, and Julie V. Schaffer, MD, is an all-encompassing medical reference book that puts the latest practices in dermatologic diagnosis and treatment at your fingertips. It delivers more comprehensive coverage of basic science, clinical practice, pediatric dermatology, and dermatologic surgery than you’ll find in any other source. Whether you’re a resident or an experienced practitioner, you’ll have the in-depth, expert, up-to-the-minute answers you need to overcome any challenge you face in practice. Find answers fast with a highly user-friendly, "easy-in-easy-out" format and a wealth of tables and algorithms for instant visual comprehension. Get full exposure to core knowledge with coverage of dermatology’s entire spectrum of subspecialties. See just the essential information with "need-to-know" basic science information and key references. Expedite decision making and clarify complex concepts with logical tables, digestible artwork, and easy-to-grasp schematics. Visualize more of the conditions you see in practice with over 3500 illustrations, of which over 1,400 are new: 1,039 clinical images, 398 pathology slides, and 152 schematics. Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color. Get an enhanced understanding of the foundations of dermatology in pathology, the clinical setting, and dermoscopy with a completely rewritten introductory chapter. Better comprehend the clinical-pathological relationship of skin disease with increased histologic coverage. Bolognia’s Dermatology is the ultimate multimedia reference for residents in training AND the experienced practitioner.

Basic Science Insights into Clinical Puzzles An Issue of Dermatologic Clinics E Book

Author : John J. DiGiovanna
File Size : 28.18 MB
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This issue of Dermatologic Clinics, guest edited by Dr. John J. DiGiovanna, is devoted to Skin Science Contributions in Clinical Dermatology. Articles in this issue include Mosaic mTORopathies; CYLD: Cause and Therapeutic Target for Cylindromas; Current Status of Dedicator of Cytokinesis (DOCK), DOCK8, DOCK2; IL-22 relation to Tumor Aggression and Role of Cyclosporine; Dual Lineage of Dermal Fibroblasts and Potential for Scar Correction, Reformation of Adnexal Structures; Inflammasome Instigated Autoinflammatory Disorders; Pigment Cell Biology; Antimicrobial Peptides; and Choosing Friend or Foe? Commensal-specific tolerance.

Therapy of Skin Diseases

Author : Thomas Krieg
File Size : 59.76 MB
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Based on the understanding of the molecular basis of skin diseases, this truly international book supports the reader to understand the mode of action of new and established therapies. Thus, by explaining the molecular pathology with its applications for therapy, it provides the reader with an up-to-date knowledge of the therapy of skin disease and helps to understand ongoing and new developments in the field. Written and edited by international and renowned dermatology experts from Europe, America and Asia, it also includes regional concepts of therapies. The reader-friendly structure allows the reader to pick up the information quickly; for example, each chapter highlights practical hints for indications and applications. This lavishly illustrated book will support the reader to choose the most appropriate therapy for the patient and to reach a better treatment outcome. It will be an indispensable resource for dermatologists in university departments as well as in clinical practice.

Neurocutaneous Disorders

Author : Martino Ruggieri
File Size : 62.10 MB
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The book provides an authoritative source of knowledge about these problematic disorders. It bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses.