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CRISPR/Cas9 and Homology Directed Repair-mediated Correction of COL7A1 Recurrent Mutations in Induced Pluripotent Stem Cells from Patients with Recessive Dystrophic Epidermolysis Bullosa
  • Language: en

CRISPR/Cas9 and Homology Directed Repair-mediated Correction of COL7A1 Recurrent Mutations in Induced Pluripotent Stem Cells from Patients with Recessive Dystrophic Epidermolysis Bullosa

  • Type: Book
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  • Published: 2017
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  • Publisher: Unknown

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare and severe genetic skin disease responsible for blistering of the skin and mucosa after minor trauma. RDEB is caused by a wide variety of mutations in COL7A1 encoding type VII collagen, the major component of anchoring fibrils which from key attachment structures for dermal-epidermal adhesion. To investigate the therapeutic potential of CRISPR/Cas9-mediated gene correction through Homology Directed Repair (HDR) in induced Pluripotent Stem Cells (iPSCs), we have generated iPSCs lines from fibroblasts from 2 RDEB patients homozygous for recurrent COL7A1 mutations in exon 3 or exon 80. First, we designed different guide RNAs (gRNAs) ta...

Epidermal Cells
  • Language: en
  • Pages: 482

Epidermal Cells

A collection of cutting-edge methods to analyze and manipulate epidermal cellprecursors and mature epidermal cells. These protocols cover different methods and models for culturing epidermal cells, for enriching very early epidermal progenitors, and for studying epidermal cell commitment and differentiation both in vitro and in vivo. Topics of special interest include the derivation, characterization, and utility of epidermal stem cells, mature epidermal cells and their characterization, and applications in regenerative medicine. These readily reproducible techniques broaden our understanding of the biology of epidermal cells and of their utility in normal tissue homeostasis and regenerative medicine applications.

Transgenic Kallikrein 14 Mice Display Major Hair Defects Associated with Desmoglein 3 and 4 Degradation and an Inflammatory Signature
  • Language: en

Transgenic Kallikrein 14 Mice Display Major Hair Defects Associated with Desmoglein 3 and 4 Degradation and an Inflammatory Signature

  • Type: Book
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  • Published: 2017
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  • Publisher: Unknown

Netherthon syndrome (NS) is a rare autosomal recessive skin disease caused by loss-of-function mutations in SPINK5 encoding Lymphoepithelial Kazal-Type-related Inhibitor (LEKTI). LEKTI deficiency results in unopposed activity of epidermal kallikrein-related peptidases (KLKs), mainly KLK5, KLK7 and KLK14. While the function of KLK5 and KLK7 has been previously studied, the role of KLK14 in skin homeostasis and its contribution to NS pathogenesis remain unknown. In this study, we generated a transgenic murine model overexpressing human KLK14 (TghKLK14) in the stratum granulosum. The hair of TghKLK14 mice did not grow and hair follicles were hyperplastic when hKLK14 was overexpressed. Ultrastru...

Pediatric Dermatology E-Book
  • Language: en
  • Pages: 1912

Pediatric Dermatology E-Book

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 p...

Emerging Infectious Diseases
  • Language: en
  • Pages: 1162

Emerging Infectious Diseases

  • Type: Book
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  • Published: 2014-07
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  • Publisher: Unknown

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Blistering Diseases
  • Language: en
  • Pages: 724

Blistering Diseases

  • Type: Book
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  • Published: 2015-03-05
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  • Publisher: Springer

This book is a comprehensive compendium of current knowledge on inherited and autoimmune blistering diseases that relates advances in our understanding of the pathogenetic mechanisms to management of the individual diseases. The aim is to provide a detailed reference for dermatologists who care for patients with these conditions and a useful “one-stop information shop” for specialists outside of dermatology. The book opens by describing the structure and biology of the epidermis and basement membrane zone and discussing the genes and proteins that are targets for mutations and autoantibodies. The role of the various diagnostic tests is explained, and clinical manifestations of the specific diseases are presented with the aid of many high-quality illustrations. The forms of treatment appropriate in specific conditions are then described in depth, with coverage of dressings, drugs, surgical procedures, gene therapy, and other novel approaches. Helpful algorithms are included both for testing and monitoring and for treatment.

Ichthyoses
  • Language: en
  • Pages: 154

Ichthyoses

The various manifestations of ichthyoses are classified either by their appearance or their molecular genetics. This volume focuses on generalized, inherited disorders of cornification, which constitute an ever-enlarging group of monogenic diseases caused by a large number of genes that affect a broad array of cellular functions. The authors' overview reflects their unique perspective that the clinical phenotype in the inherited ichthyoses mirrors a 'best attempt' by a metabolically compromised epidermis to maintain a barrier sufficiently impermeable for survival in a desiccating external environment. The basis for threats to survival is illuminated, and the systemic problems, including grow...

Bioinformatics
  • Language: en
  • Pages: 414

Bioinformatics

  • Type: Book
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  • Published: 2014-02-24
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  • Publisher: CRC Press

The book introduces bioinformatic and statistical methodology and shows approaches to bias correction and error estimation. It also presents quantitative methods for genome and proteome analysis.

Rosacea 101
  • Language: en
  • Pages: 373

Rosacea 101

Rosacea can be a frustrating and debilitating skin condition that is confusing and mysterious. What works for one rosacean as a regimen to control it may not work for another rosacean. Hence a rosacea sufferer presents the need for a basic understanding of rosacea in this book. Rosacea 101 will help you get control of this horrible rosacea beast. As a rosacea sufferer for many years I discovered in 1999 how to help control rosacea with diet. Over the years I have discovered what treatments rosacea sufferers have discussed works for them and noticed how frustrated rosacea can be. I founded the Rosacea Research & Development Institute in 2004 that is a 501 (c) (3) non?profit organization for rosaceans for finding the cure.