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  • 1
    Cham : Springer
    Keywords: Human Genetics ; Biochemistry ; Biological models ; Human Genetics ; Protein Science ; Systems Biology ; Springer eBooks
    Description / Table of Contents: Preface -- Chromatin regulation by long non-coding RNAs -- Regulation of Eukaryotic Cell Differentiation by Long Noncoding RNAs -- Roles of long non-coding RNAs in X-chromosome inactivation -- Roles of Long Non-Coding RNAs in Genomic Imprinting -- Dysregulation of long noncoding RNAs in human disease -- Functions of long non-coding RNAs in non-mammalian systems -- Emerging technologies to study long non-coding RNAs -- Long non coding RNAs and nuclear body formation and function -- The role of long non-coding RNAs in immunity -- Novel methods to study long non-coding RNAs -- OMICs of long non-coding RNAs -- Cancer epigenetics and long non-coding RNAs -- Roles of long non-coding RNAs in human development -- Index
    Abstract: This second edition shows how long non-coding RNAs (lnc)RNAs have emerged as a new paradigm in epigenetic regulation of the genome. Thousands of lncRNAs have been identified and observed in a wide range of organisms. Unlike mRNA, lncRNA have no protein-coding capacity. So, while their function is not entirely clear, they may serve as key organizers of protein complexes that allow for higher order regulatory events. Advances in the field also include better characterization of human long non-coding RNAs, novel insights into their roles in human development and disease, their diverse mechanisms of action and novel technologies to study them
    Pages: VII, 187 p. 10 illus., 9 illus. in color. : online resource.
    Edition: 2nd ed. 2019.
    ISBN: 9783030170868
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  • 2
    New York, NY : Springer
    Keywords: Human Genetics ; Medicine ; Human Genetics ; Cytogenetics ; Molecular Medicine ; Springer Nature Living Reference
    Description / Table of Contents: Acardia -- Achondrogenesis -- Achondroplasia -- Adams-Oliver syndrome -- Agnathia -- Aicardi syndrome -- Alagille syndrome -- Albinism -- Alpha thalassemia-mental retardation (ATR-X) syndrome -- Ambiguous genitalia -- Amniotic deformity, adhesions, mutilations (ADAM) syndrome -- Androgen insensitivity syndrome -- Angelman syndrome -- Apert syndrome -- Aplasia cutis congenita -- Arthrogryposis multiplex congenita -- Asphyxiating thoracic dystrophy -- Ataxia telangiectasia -- Atelosteogenesis -- Autism -- Bannayan-Riley-Ruvalcaba syndrome -- Beckwith-Wiedemann syndrome -- Behcet disease -- Biotinidase deficiency -- Bladder exstrophy -- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) -- Body stalk anomaly -- Brachydactyly -- Branchial cleft cyst -- Calcinosis cutis -- Campomelic dysplasia -- Carpenter syndrome -- Cat-eye syndrome -- Celiac disease -- Cerebral palsy -- Cerebro-costo-mandibular syndrome -- Charcot-Marie-Tooth disease -- CHARGE association -- Cherubism -- Chiari malformation -- Chondrodysplasia punctata -- Chromosome abnormalities in pediatric solid tumors -- Cleft lip/palate -- Cleidocranial dysplasia -- Cloacal exstrophy -- Clubfoot (talipes equinovarus) -- Collodion baby -- Congenital adrenal hyperplasia -- Congenital cutis laxa -- Congenital cytomegalovirus infection -- Congenital generalized lipodystrophy -- Congenital hemihyperplasia (congenital hemihypertrophy) -- Congenital hydrocephalus -- Congenital hypothyroidism -- Congenital muscular dystrophy -- Congenital toxoplasmosis -- Conjoined twins -- Corpus-callosum agenesis/dysgenesis -- Craniometaphyseal dysplasia -- Cri-du-chat syndrome -- Crouzon syndrome -- Cutis marmorata telangiectatica congenita -- Cystic fibrosis -- Dandy-Walker malformation -- De Lange syndrome -- Del(18p) syndrome -- Del(22q11.2) syndrome -- Del(Yq) syndrome -- Diabetic embryopathy -- Down syndrome -- Duncan syndrome (X-linked lymphoproliferative disease) -- Dyschondrosteosis/Langer mesomelic dysplasia -- Dysmelia (limb deficiency/reduction) -- Dysplasia epiphysealis hemimelica -- Dystonia -- Dystrophinopathies -- EEC syndrome -- Ehlers-Danlos syndrome -- Ellis-van Creveld syndrome -- Enchondromatosis -- Epidermolysis bullosa -- Epidermolytic palmoplantar keratoderma -- Faciogenital (Aarskog) syndrome -- Facioscapulohumeral muscular dystrophy (FSH) -- Familial adenomatous polyposis syndrome -- Familial hyperlysinemia -- Familial Mediterranean fever -- Fanconi anemia -- Femoral hypoplasia-unusual facies syndrome -- Fetal akinesia syndrome -- Fetal alcohol syndrome -- Fetal hydantoin syndrome -- Fibrodysplasia ossificans progressiva -- Finlay-Marks syndrome -- Floppy infant -- Fragile X syndrome -- Fraser syndrome -- Freeman-Sheldon (whistling face) syndrome -- Friedreich ataxia -- Frontonasal dysplasia -- Galactosemia -- Gastroschisis -- Gaucher disease -- Generalized arterial calcification -- Genitopatellar syndrome -- Giant congenital melanocytic nevi (giant congenital nevi) -- Glucose-6-phosphate dehydrogenase deficiency -- Glycogen storage disease, type II (Pompe) -- Goldenhar syndrome -- Gorlin (nevoid basal cell carcinoma) syndrome -- Greig cephalopolysyndactyly syndrome -- Hallermann-Streiff syndrome -- Harlequin fetus -- Hemophilia A -- Hereditary hearing loss -- Hereditary hemochromatosis -- Hereditary multiple exostosis -- Herlyn-Werner-Wunderlich syndrome -- Holoprosencephaly -- Holt-Oram syndrome -- Huntington disease -- Hydrolethalus syndrome -- Hydrops fetalis -- Hyper-IgE syndrome -- Hypochondroplasia -- Hypoglossia-hypodactyly (oromandibular limb hypogenesis) syndrome -- Hypohidrotic ectodermal dysplasia -- Hypomelanosis of Ito -- Hypophosphatasia -- Hypopituitarism -- I(1p),I(1q) syndrome -- Isodic(Yq) syndrome -- Incontinentia pigmenti -- Infantile myofibromatosis -- Ivemark syndrome -- Jarcho-Levin syndrome -- Joubert syndrome -- Kabuki syndrome -- Kassback-Merritt syndrome -- KID syndrome -- Klinefelter syndrome -- Klippel-Feil syndrome -- Klippel-Trenaunay syndrome -- Kniest dysplasia -- Larsen syndrome -- LEOPARD syndrome -- Lesch-Nyhan syndrome -- Lethal multiple pterygium syndrome -- Loeys-Dietz syndrome -- Lowe syndrome -- Marfan syndrome -- McCune-Albright syndrome -- Meckel-Gruber syndrome -- Megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease) -- Menkes disease -- Metachromatic leukodystrophy -- Miller-Dieker syndrome -- Mitochondrial Leber hereditary optic neuropathy -- Mobius syndrome -- Mowat-Wilson Disease -- Mucolipidosis II (I-cell disease) -- Mucolipidosis III (pseudo-Hurler Polydystrophy) -- MPS I (Hurler syndrome) -- MPS II (Hunter syndrome) -- MPS III (Sanfilippo syndrome) -- MPS IV (Morquio syndrome) -- MPS VI (Maroteaux-Lamy syndrome) -- Multiple endocrine neoplasia Syndrome -- Multiple epiphyseal dysplasia -- Multiple pterygium syndrome -- Myotonic dystrophy -- Nail-Patella Syndrome (hereditary Osteo-onychodysplasia) -- Neonatal Herpes simplex infection -- Nephrogenic diabetes insipidus -- Netherton syndrome -- Neu-Laxova syndrome -- Neural tube defects -- Neurofibromatosis 1 -- Neurofibromatosis 2 -- Noonan syndrome -- Oblique facial cleft syndrome -- Oligohydramnios sequence -- Omphalocele -- Oro-Facial-Digital Syndrome -- Osteogenesis imperfecta -- Osteopetrosis -- Osteopoikilosis -- Otopalatodigital spectrum disorders -- Pachyonychia congenita -- Pallister-Killian syndrome -- Phenylketonuria (PKU) -- Pierre Robin sequence -- Polycystic kidney disease, AD form -- Polycystic kidney disease, AR form -- Popliteal pterygium syndrome -- Prader-Willi syndrome -- Progeria -- Prune belly syndrome -- Pseudoachondroplasia -- R(18) syndrome -- Retinoid embryopathy -- Rett syndrome -- Rickets -- Rigid spine syndrome -- Roberts syndrome -- Robinow syndrome -- Rubinstein-Taybi syndrome -- Saethre-Chotzen syndrome -- Sagittal synostosis associated with chromosome abnormalities -- Schizencephaly -- Schmid metaphyseal chondrodystrophy -- Seckel syndrome -- Severe combined immune deficiency -- Short rib polydactyly syndromes (SRPS) -- Sickle cell disease -- Silver-Russell syndrome -- Sirenomelia -- Smith-Lemli-Optiz syndrome -- Smith-Magenis syndrome -- Sotos syndrome -- Spinal muscular atrophy -- Spondyloepiphyseal dysplasia -- Stickler syndrome -- Sturge-Weber syndrome -- Tay-Sachs disease -- Tetrasomy 9p syndrome -- Thalassemia -- Thanatophoric dysplasia -- Thrombocytopenia-absent radius (TAR) syndrome -- Treacher-Collins syndrome -- Trimethylaminuria -- Triploidy -- Trismus pseudocamptodactyly (Hecht syndrome) -- Trisomy 8 mosaicism (Warkany) syndrome -- Trisomy 13 syndrome -- Trisomy 18 syndrome -- Tuberous sclerosis -- Turner syndrome -- Twin-twin transfusion syndrome -- Ulnar-mammary syndrome -- Urofacial (Ochoa) Syndrome -- VATER (VACTERL) association -- Von Hippel-Lindau disease -- Waardenburg syndrome -- Weill-Marchesani syndrome -- Williams syndrome -- Wolf-Hirschhorn syndrome -- X-linked agammaglobulinemia (Bruton type) -- X-linked ichthyosis -- XX Male -- XXX syndrome -- XXXXX syndrome -- XXXXY syndrome -- XY female.-XYY syndrome
    Abstract: Dr. Chen shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of almost 250 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. The Atlas of Genetic Diagnosis and Counseling will help all physicians to understand and recognize genetic diseases and malformation syndromes and better evaluate, counsel, and manage affected patients. In this new edition, 47 additional genetic disorders are added, as well as extensive updates made to the previous disorders. New illustrations, as previous edition, will be supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation
    Pages: LX, 2224 p. 2472 illus., 2018 illus. in color. : online resource.
    ISBN: 9781461464303
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  • 3
    Keywords: Oncology ; Human Genetics ; Medicine ; Cytology ; Metabolism ; Cancer Research ; Human Genetics ; Molecular Medicine ; Cell Biology ; Metabolomics ; Springer eBooks
    Description / Table of Contents: Preface -- Molecular and Cell Biology of Cancer when cells break the rules and hijack their own planet -- Cancer as an Evolutionary Process -- Cell signaling in cancer -- The cell cycle, cytoskeleton and cancer -- Genomic Instability: DNA Repair and Cancer -- Cell metabolism in cancer – an energetic switch -- Cancer immunoediting and hijacking of the immune system -- Angiogenesis - vessels recruitment by tumor cells -- Tumor niche disruption and metastasis: the role of epithelial-mesenchymal transition (EMT) -- Case studies - Molecular Pathology perspective and impact on oncologic patients’ management -- Index
    Abstract: This textbook takes you on a journey to the basic concepts of cancer biology. It combines developmental, evolutionary and cell biology perspectives, to then wrap-up with an integrated clinical approach. The book starts with an introductory chapter, looking at cancer in a nut shell. The subsequent chapters are detailed and the idea of cancer as a mass of somatic cells undergoing a micro-evolutionary Darwinian process is explored. Further, the main Hanahan and Weinberg “Hallmarks of Cancer” are revisited. In most chapters, the fundamental experiments that led to key concepts, connecting basic biology and biomedicine are highlighted. In the book’s closing section all of these concepts are integrated in clinical studies, where molecular diagnosis as well as the various classical and modern therapeutic strategies are addressed. The book is written in an easy-to-read language, like a one-on-one conversation between the writer and the reader, without compromising the scientific accuracy. Therefore, this book is suited not only for advanced undergraduates and master students but also for patients or curious lay people looking for a further understanding of this shattering disease
    Pages: IX, 216 p. 71 illus. in color. : online resource.
    Edition: 1st ed. 2019.
    ISBN: 9783030118129
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  • 4
    Keywords: Oncology ; Human Genetics ; Medicine ; Cytology ; Cancer Research ; Human Genetics ; Molecular Medicine ; Cell Biology ; Springer eBooks
    Description / Table of Contents: Preface -- Hypoxia mediates tumor malignancy -- Clinical methods for quanitifying hypoxia in human tumors -- Hypoxia-induced phenotypes that mediate tumor heterogeneity -- Hypoxia and the tumors secretome -- Hypoxic signaling in angiogenesis and lymphangiogenesis -- Hypoxia induced metabolic reprogramming in cancer metastasis -- The metastatic niche and hypoxia -- Hypoxia and immune suppression -- Hypoxia-induced resistance to cancer therapy -- Therapeutic stratagies to target the hypoxic microenvironment -- Index
    Abstract: The present book is an attempt to provide a detailed review of studies that clarify our current understanding of the role of hypoxia in the progression of primary cancer to metastatic disease. It will enable researchers to discover the critical cellular changes that occur under hypoxic conditions and play a role in metastatic dissemination, from the activation of hypoxia-inducible factors, HIF-1 and HIF-2, to the transcriptional profile changes that occur in cancer cells and promote cancer cell survival under detrimental conditions. Readers will discover the methods and challenges involved in imaging and quantifying the degree of hypoxia in a primary tumor. We will provide an understanding of the hypoxia-induced phenotypes that influence heterogeneity, alter the secretome and tumor microenvironment, modify cellular metabolism, and promote immune suppression and resistance to chemotherapy. Finally, we will uncover the therapeutic strategies that are being devised to target the hypoxic microenvironment in the hopes of preventing metastasis and improving the efficacy of standard-of-care cancer treatments. This work is an up to date source of information on the challenges and complexity of the hypoxic tumor microenvironment. Basic and translational scientists, post-doctoral fellows, graduate students, and those interested in how tumors metastasize will find this book a reference that details how hypoxia influences metastatic disease
    Pages: VIII, 160 p. 17 illus., 16 illus. in color. : online resource.
    Edition: 1st ed. 2019.
    ISBN: 9783030127343
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  • 5
    Keywords: Oncology ; Human Genetics ; Database management ; Data mining ; Cancer Research ; Human Genetics ; Database management ; Data Mining and Knowledge Discovery ; Springer eBooks
    Description / Table of Contents: Preface -- Introduction -- Resources -- Data Retrieval -- Text Processing -- Semantic processing -- Index
    Abstract: This open access book is a step-by-step introduction on how shell scripting can help solve many of the data processing tasks that Health and Life specialists face everyday with minimal software dependencies. The examples presented in the book show how simple command line tools can be used and combined to retrieve data and text from web resources, to filter and mine literature, and to explore the semantics encoded in biomedical ontologies. To store data this book relies on open standard text file formats, such as TSV, CSV, XML, and OWL, that can be open by any text editor or spreadsheet application. The first two chapters, Introduction and Resources, provide a brief introduction to the shell scripting and describe popular data resources in Health and Life Sciences. The third chapter, Data Retrieval, starts by introducing a common data processing task that involves multiple data resources. Then, this chapter explains how to automate each step of that task by introducing the required commands line tools one by one. The fourth chapter, Text Processing, shows how to filter and analyze text by using simple string matching techniques and regular expressions. The last chapter, Semantic Processing, shows how XPath queries and shell scripting is able to process complex data, such as the graphs used to specify ontologies. Besides being almost immutable for more than four decades and being available in most of our personal computers, shell scripting is relatively easy to learn by Health and Life specialists as a sequence of independent commands. Comprehending them is like conducting a new laboratory protocol by testing and understanding its procedural steps and variables, and combining their intermediate results. Thus, this book is particularly relevant to Health and Life specialists or students that want to easily learn how to process data and text, and which in return may facilitate and inspire them to acquire deeper bioinformatics skills in the future
    Pages: XV, 98 p. 483 illus., 74 illus. in color. : online resource.
    Edition: 1st ed. 2019.
    ISBN: 9783030138455
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  • 6
    Keywords: Oncology ; Medicine ; Immunology ; Human Genetics ; Cancer Research ; Molecular Medicine ; Immunology ; Human Genetics ; Springer eBooks
    Description / Table of Contents: Preface -- Introduction -- Mhc/Hla Class I Loss In Cancer Cells -- Hla Class-I Expression And Cancer Immunotherapy -- Hla Class-Ii Expression In Human Tumors -- Index
    Abstract: This book is about the escape strategies used by cancer cells to avoid the immune response of the host. The main characters of this story are the €œÁntigen Presenting Moleculeś€ and the ́€œT Lymphocyteś€. The former are known as the Major Histocompatibility Complex (MHC): the H-2 and the HLA molecules. The latter are a subgroup of white cells travelling all over our body which are capable to distinguish between ́€œself and non self́€. Readers will know from the inside about the history of the HLA genetic system and will discover how T lymphocytes recognize and destroy cancer cells. One of the key important questions is: Why tumors arise, develop and metastasize? This book tries to answer this question and will explain how cancer cells become invisible to killer T lymphocytes. The loss of the HLA molecules is a major player in this tumor escape mechanism. Cancer immunotherapy is aimed at stimulating T lymphocytes to destroy tumor cells. However, the clinical response rate is not as high as expected. The molecular mechanisms responsible for MHC/HLA antigen loss play a crucial role in this resistance to immunotherapy. This immune escape mechanism will be discussed in different types of tumors: lung, prostate, bladder and breast́€Œect. as well as melanoma and lymphoma. This book will be useful to Oncologists, Pathologists and Immunologist that will enter this fascinating area of research. It will be also interesting for biologist, doctoral students and medical residents interested in ́€œTumor Immunologý€&#x9d
    Pages: X, 101 p. 41 illus., 38 illus. in color. : online resource.
    ISBN: 9783030178642
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  • 7
    Keywords: Human Genetics ; Oncology ; Medicine ; Nucleic Acids ; Human Genetics ; Cancer Research ; Molecular Medicine ; Nucleic Acid Chemistry ; Springer eBooks
    Description / Table of Contents: Prelims -- Networks of mRNA processing and alternative splicing regulation in health and disease -- The diverse roles of RNA-binding proteins in glioma development -- Nonsense-mediated mRNA decay in development, stress and cancer -- Implication of mRNA degradation disorders on human DISease: focus on DIS3 and DIS3-like enzymes -- Translational regulation by upstream open reading frames and human diseases -- Alternative mechanisms of mRNA translation initiation in cellular stress response and cancer -- RNA therapeutics: how far have we gone? Index
    Abstract: The eukaryotic gene expression pathway involves a number of interlinked steps, with messenger RNA (mRNA) being the key intermediate. The precursor mRNA is transcribed from DNA, processed by removal of introns and addition of the cap structure and the poly(A) tail. The mature mRNA is then exported to the cytoplasm where it is translated into protein and finally degraded. In this process, mRNA is associated with RNA-binding proteins forming ribonucleoprotein complexes, whose protein content evolves throughout the lifetime of the mRNA. While the complexity of eukaryotic gene expression allows the production of proteins to be controlled at many levels, it also makes the process vulnerable to errors. Although eukaryotic cells have evolved elaborate mRNA quality control mechanisms that ensure the fidelity of gene expression, some defects are not detected, thus affecting mRNA metabolism. This condition plays a fundamental role in the pathogenesis of several disease processes, such as neurodegeneration and oncogenesis. Besides, exciting recent data have shown that cellular RNAs can be modified post-transcriptionally via dynamic and reversible chemical modifications, the so-called epitranscriptome. These modifications can alter mRNA structure, being able to modulate different steps of the mRNA metabolism that can be associated with various human diseases, such as systemic lupus erythematosus and cancer. This book provides a collection of novel studies and hypotheses aimed to define the pathophysiological consequences of altered mRNA metabolism events in human cells, and is written for a wide spectrum of readers in the field of gene expression regulation. The last chapter highlights how the discovery of disease-causing defects (or modifications) in mRNA can provide a variety of therapeutic targets that can be used for the development of new RNA-based therapeutics. Hopefully, it may also contribute to inspire the drug-developing scientific community
    Pages: IX, 180 p. 18 illus., 17 illus. in color. : online resource.
    Edition: 1st ed. 2019.
    ISBN: 9783030199661
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  • 8
    Keywords: Oncology ; Immunology ; Human Genetics ; Medicine ; Cytology ; Cancer Research ; Immunology ; Human Genetics ; Molecular Medicine ; Cell Biology ; Medicine/Public Health, general ; Springer eBooks
    Description / Table of Contents: Foreword -- Mast cell ontogeny -- Staining of mast cells -- Mast cells heterogeneity -- Mast cell biology and functions -- Mast cells in arteriogenesis -- Mast cells in primary systemic vasculitides -- Mast cells in blood-brain barrier alterations and neurodegenerative diseases -- Mast cells and basophils: a link between angiogenesis and inflammation in allergic diseases -- Mast cells in tumor fate -- Mast cells in tumor angiogenesis and lymphoangiogenesis -- Mast cells as therapeutic target in cancer -- Index
    Abstract: This book covers the most important aspects of Mast Cell Biology. It enables the reader to immerse in the new aspects of Mast Cells biology, which are no longer seen as an immunological effector cell, but a multi-functional efector cell. One which have roles that expands beyond the immunological realm and shows deep implications in the pathophysiology of several human disorders as well as transforming into a very important and promising target for therapy development in cancer, neurodegerative disorders, angiogenesis, inflammation and allergy. Across twelve chapter on Mast Cells Research, starting from the discovery and characterization of Mast Cells until the lastest findings and translational perspectives, the reader will get a complete view and a profound insight on the fundamental and applied aspects of Mast Cells Biology. The chapters are written in a clear and concise way in order to help navigating through complex biological scenarios. The author, Domenico Ribatti, Full professor of the University of Bari, is an expert in the field of Mast Cells with more than 800 publications
    Pages: VII, 112 p. 12 illus., 8 illus. in color. : online resource.
    Edition: 1st ed. 2019.
    ISBN: 9783030241902
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