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Author : Yushi Redhead
Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (13 download)
Download or read book Craniofacial Development in a Mouse Model of Down Syndrome written by Yushi Redhead and published by . This book was released on 2021 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Samantha L. Deitz
Publisher :
ISBN 13 :
Total Pages : 254 pages
Book Rating : 4.:/5 (852 download)
Download or read book Molecular Basis and Modification of a Neural Crest Deficit in a Down Syndrome Mouse Model written by Samantha L. Deitz and published by . This book was released on 2012 with total page 254 pages. Available in PDF, EPUB and Kindle. Book excerpt: Down syndrome (DS) is the result of trisomy of human chromosome 21 (Hsa 21) and occurs in approximately 1/700 live births. Mouse models of DS have been crucial in understanding the gene-phenotype relationships that underlie many DS anomalies. The Ts65Dn mouse model, trisomic for half of the Hsa 21 orthologs replicates many DS phenotypes including craniofacial alterations such as a small, dysmorphic mandible, midface, and maxilla. Other mouse models, such as the Ts1Rhr which contains a triplication of 33 Hsa 21 orthologs, have been used to better understand the genes responsible for craniofacial alterations. Our laboratory has demonstrated that the postnatal mandibular phenotype found in Ts65Dn mice can be traced back to an original neural crest cell (NCc) deficit in the developing first pharyngeal arch (PA1) at embryonic day 9.5 (E9.5). Furthermore, evidence suggested that both a proliferation deficit in the PA1 and a migration deficit in the NCC from the neural tube (NT) could be the mechanism behind this deficit. However, the molecular mechanisms behind these deficits remain to be elucidated. Due to the involvement of the Hsa 21 genes DYRK1A and RCAN1 in regulation of signaling pathways including NFATc (NFAT2), a transcription factor known to influence cellular proliferation and, later, bone development, we hypothesized that dysregulation of these genes could underlie the cellular deficit in the PA1. Furthermore, we hypothesized that targeting Dyrk1a by decreasing activity or available protein could ameliorate the established deficits. Through the use of RNA isolation techniques and cell culture systems of cell from the PA1 and NT of E9.5 Ts65Dn, Ts1Rhr, and control embryos, we established that trisomic genes Dyrk1a and Rcan1 ara dysregulated in both structures and that these two genes may interact. Furthermore, we established that a proliferation deficit in the Ts65Dn PA1 and a migration deficit in the Ts65Dn PA1 and NT exists at E9.5 and can be rescued to euploid levels in vitro with the addition of the Dyrk1a inhibitor, EGCG, a green tea polyphenol. We also confirmed that harmine, a more highly studied and specific Dyrk1a inhibitor, is capable of similar effects on proliferation of PA1 cell from E9.5 Ts65Dn embryos. Furthermore, when Ts65Dn pregnant mothers were treated with EGCG in vivo, the cellular deficit found in the developing E9.5 embryonic PA1 was rescued to near euploid volume and NCC number. Treatment with EGCG did not adversely impact litter size or embryonic development. Interestingly, euploid embryonic volume increased with EGCG treatment. Expression analysis of the E9.5 PA1 of EGCG treated Ts65Dn and control embryos revealed dysregulation of several genes involved in craniofacial and developmental pathways including Dyrk1a, Rcan1, Ets2 and members of the sonic hedgehog pathways. Our novel results provide a foundation for better understanding the molecular mechanisms of craniofacial development and may provide evidence-based therapeutic options to improve the quality of life for individuals with DS.
Author : Cherie Nicole Billingsley
Publisher :
ISBN 13 :
Total Pages : 204 pages
Book Rating : 4.:/5 (78 download)
Download or read book Developmental Differences and Altered Gene Expression in the Ts65Dn Mouse Model of Down Syndrome written by Cherie Nicole Billingsley and published by . This book was released on 2010 with total page 204 pages. Available in PDF, EPUB and Kindle. Book excerpt: Trisomy 21 occurs in approximately 1 out of 750 live births and causes brachycephaly, a small oral cavity, a shortened mid-face, and mental impairments in individuals with Down syndrome (DS). Craniofacial dysmorphology occurs in essentially all individuals with trisomy 21 and causes functional difficulties. Mouse models are commonly used to study the etiology of human disorders because of the conserved phenotypes between species. The Ts65Dn Down syndrome mouse model has triplicated homologues for approximately half the genes on human chromosome 21 and exhibits many phenotypes that parallel those found in individuals with DS. Specifically, newborn and adult Ts65Dn mice display similar craniofacial defects as humans with DS. Ts65Dn embryos also exhibit smaller mandibular precursors than their euploid littermates at embryonic day 9.5 (E9.5). Furthermore, Ts65Dn mice exhibit reduced birth weight which suggests a possible generalized delay in overall embryonic growth. Based on previous research at E9.5, it was hypothesized that Ts65Dn E13.5 embryos would have reduced mandibular precursors with altered gene expression. It was also hypothesized that other neural crest derived structures would be reduced in trisomic embryos. Using morphological measurements it was determined that the mandible, Meckel's cartilage, and hyoid cartilage were significantly reduced in E13.5 trisomic embryos. The tongue was of similar size in trisomic and euploid embryos while cardiac and brain tissue volumes were not significantly different between genotypes. Analysis of total embryonic size at E9.5 and E13.5 revealed smaller trisomic embryos with developmental attenuation that was not related to maternal trisomy. A microarray analysis performed on the mandibular precursor revealed 155 differentially expressed non-trisomic genes. Sox9 was of particular interest for its role in cartilage condensation and endochondral ossification. It was hypothesized that the overexpression of Sox9 in the developing mandible would be localized to Meckel's and hyoid cartilages. Immunohistochemistry performed on the mandibular precursor confirmed an overexpression of Sox9 in both Meckel's and the hyoid cartilages. This research provides further insight into the development of trisomic tissues, both neural crest and non-neural crest-derived, and also the specific molecular mechanisms that negatively affect mandibular development in Ts65Dn mice and presumably individuals with Down syndrome.
Author : Linda Anne Hallman
Publisher :
ISBN 13 :
Total Pages : 494 pages
Book Rating : 4.:/5 (21 download)
Download or read book Quantitative and Qualitative Evaluation of Craniofacial Morphology of the Trisomy 16 Mouse written by Linda Anne Hallman and published by . This book was released on 1988 with total page 494 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Murray Clyde Meikle
Publisher :
ISBN 13 :
Total Pages : 390 pages
Book Rating : 4.3/5 (91 download)
Download or read book Craniofacial Development, Growth and Evolution written by Murray Clyde Meikle and published by . This book was released on 2002 with total page 390 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Over the past twenty years craniofacial biology has been revolutionized by major developments in our understanding of the cellular, molecular and genetic mechanisms underlying embryonic development. Many of these advances have been based on animal models, most notably the fruitfly Drosophila, the chick and the mouse. Since these developmental processes have been highly conserved during evolution, this information is relevant not only to understanding normal human development but also to understanding how genetic mutations produce particular malformations or inherited diseases. This book incorporates these discoveries into traditional morphological description of craniofacial development, and in a form accessible to clinicians with an interest in the head and neck." --book cover.
Author : Summer H. Ladd
Publisher :
ISBN 13 :
Total Pages : 45 pages
Book Rating : 4.:/5 (13 download)
Download or read book The Effect of Diet on Craniofacial Growth in Osteogenesis Imperfecta Mouse Model written by Summer H. Ladd and published by . This book was released on 2018 with total page 45 pages. Available in PDF, EPUB and Kindle. Book excerpt: Osteogenesis imperfecta (OI, or “brittle bone disease”) is a rare disorder that is caused by genetic point mutations (COL1A1/COL1A2) that affect type 1 collagen. In OI type III (severe) patients, limb bones are more susceptible to skeletal fractures and the bones of the craniofacial region are underdeveloped. Some OI type III patients also suffer from dental malocclusions or fractures (dentinogenesis imperfecta, DI). The goals of this project are 1) to describe the facial phenotype in an OI mouse model, to see if this model can be used to test potential behavioral and pharmaceutical interventions; and 2) to determine if diet and masticatory loading affect the development of the craniofacial region in the OI model. The homozygous OI murine (OIM-/-), a mouse strain with a nonlethal recessively inherited mutation of the COL1A2 gene, is a potential model for the human OI type III. OIM-/- and wild type (WT) littermates were raised from weaning (21 days) to adulthood (16 weeks). Digital 3D craniofacial landmarks were taken from in-vivo micro CT scans, and Kuskal-Wallis ANOVAs, along with Mann-Whitney tests, were used to compare centroid size and interlandmark distances among treatment groups. This practicum focuses on the Week 10 mice, with 3 treatment groups: OIMxM, WTxM, and WTxP. We acknowledge that the sample is incomplete due to factors beyond our immediate control, such as OIM-/- survivability. Adolescent OIM-/- mice (week 10) were found to have on average smaller cranial and mandibular centroid sizes compared to WT mice regardless of diet. Week 10 OIM-/- mice also show several morphological similarities to the OI type III human phenotype, such as shortened cranial vault height, shortened jaw length, and altered dental spacing secondary to a shortened tooth row. We conclude that the OIM mouse model shows potential for future investigations of the growth mechanisms underlying the craniofacial presentation of OI. Furthermore, preliminary results suggest that masticatory loading during the early growth period can be used to stimulate craniofacial bone growth and improve bone quality in the OIM mouse model. Future studies will continue to improve sample size by treatment and age groups. The significance of this project is that it will give a better understanding of the role of type 1 collagen and the biomechanical mechanics of craniofacial development, which are important in the search for a new treatment method in OI.
Author :
Publisher : Academic Press
ISBN 13 : 0080922481
Total Pages : 528 pages
Book Rating : 4.0/5 (89 download)
Download or read book Mouse Models of Developmental Genetic Disease written by and published by Academic Press. This book was released on 2011-09-06 with total page 528 pages. Available in PDF, EPUB and Kindle. Book excerpt: Approximately three percent of newborn humans have congenital anomalies with significant cosmetic and/or functional consequences. Much of our ability to understand what has gone awry in these birth defects rests with development of animal models for them; the mouse has emerged as the model organism of choice for these studies. This volume reviews mouse models of specific developmental genetic diseases, including neural tube defects; cleft lip and/or palate; congenital heart disease; ciliopathies; hereditary deafness and others to provide conceptual insight into congenital anomalies generally. The interplay between clinical observation and murine model systems is expected to yield deep insight into mammalian developmental processes and the emergence of effective preventive and/or therapeutic strategies. - Provides busy clinical and basic science researchers a one-stop overview and synthesis of the latest research findings and contemporary thought in the area - Allows researchers to compare and contrast disease models and also to learn about what models have been developed for large-scale distribution - Allows researchers to evaluate basic differences in mouse and human biology and propose alternate pathways and possible gene interactions of the disease
Author : Andre M. Goffinet
Publisher : Springer Science & Business Media
ISBN 13 : 3540480021
Total Pages : 347 pages
Book Rating : 4.5/5 (44 download)
Download or read book Mouse Brain Development written by Andre M. Goffinet and published by Springer Science & Business Media. This book was released on 2012-08-10 with total page 347 pages. Available in PDF, EPUB and Kindle. Book excerpt: Our understanding of the molecular mechanisms involved in mammalian brain development remains limited. However, the last few years have wit nessed a quantum leap in our knowledge, due to technological improve ments, particularly in molecular genetics. Despite this progress, the available body of data remains mostly phenomenological and reveals very little about the grammar that organizes the molecular dictionary to articulate a pheno type. Nevertheless, the recent progress in genetics will allow us to contem plate, for the first time, the integration of observation into a coherent view of brain development. Clearly, this may be a major challenge for the next century, and arguably is the most important task of contemporary develop mental biology. The purpose of the present book is to provide an overview that syn thesizes up-to-date information on selected aspects of mouse brain devel opment. Given the format, it was not possible to cover all aspects of brain development, and many important subjects are missing. The selected themes are, to a certain extent, subjective and reflect the interests of the contributing authors. Examples of major themes that are not covered are peripheral nervous system development, including myelination, the development of the hippocampus and several other CNS structures, as well as the developmental function of some important morphoregulatory molecules.
Author : Drew Provan
Publisher : John Wiley & Sons
ISBN 13 : 1394180470
Total Pages : 452 pages
Book Rating : 4.3/5 (941 download)
Download or read book Molecular Hematology written by Drew Provan and published by John Wiley & Sons. This book was released on 2024-03-05 with total page 452 pages. Available in PDF, EPUB and Kindle. Book excerpt: Provides a core knowledgebase for those with minimal exposure to hematologic molecular biology, fully revised and updated Molecular Hematology brings together the most up-to-date and reliable information on the molecular basis of major hematologic diseases. Edited and authored by leading experts in the field, this volume demonstrates the clinical relevance of molecular biology in the diagnosis and treatment of blood disorders. Concise, accessible chapters address key topics in modern hematology, such as lymphoma genetics, molecular coagulation, thrombophilia, pharmacogenomics, platelet disorders, hemophilia, anemia, and multiple myeloma. Chapters introduce and summarize specific hematologic diseases, explore the pathogenesis of the disorder, highlight new and emerging molecular strategies, and more. Now in its fifth edition, Molecular Hematology is fully revised to incorporate contemporary hematology research and practice. Entirely new chapters cover topics such as CAR-T cell technology, COVID, cancer cell biology, gene therapy and gene editing in clinical practice, as well as the impact of molecular research on the diagnosis and treatment of various malignant hematologic diseases. This edition includes updated suggested readings and a wealth of new full-color charts, graphs, and illustrations throughout. Covers the molecular biology of different blood diseases, their pathogeneses, and current molecular research and therapies Illustrates the impact of molecular research on hematologic investigations and therapeutics Discusses how progress in basic science and therapeutics has improved the diagnosis and care of patients with various hematologic disorders Surveys recent developments in cancer-cell biology, with an emphasis on leukemia and lymphoma Includes access to a companion Digital Edition providing search across the book, downloadable illustrations, and notation tools Molecular Hematology is a must-have resource for established and trainee clinicians, clinical scientists and researchers, medical students, and upper-level undergraduates in the fields of hematology, oncology, and molecular biology.
Author :
Publisher : Academic Press
ISBN 13 : 0080962823
Total Pages : 423 pages
Book Rating : 4.0/5 (89 download)
Download or read book Primary Cilia written by and published by Academic Press. This book was released on 2009-11-30 with total page 423 pages. Available in PDF, EPUB and Kindle. Book excerpt: In recent years, the role of cilia in the study of health, development and disease has been increasingly clear, and new discoveries have made this an exciting and important field of research. This comprehensive volume, a complement to the new three-volume treatment of cilia and flagella by King and Pazour, presents easy-to-follow protocols and detailed background information for researchers working with cilia and flagella. - Covers protocols for primary cilia across several systems and species - Both classic and state-of-the-art methods readily adaptable across model systems, and designed to last the test of time - Relevant to clinicians and scientists working in a wide range of fields
Author : Bani Bandana Ganguly
Publisher : Academic Press
ISBN 13 : 0323904572
Total Pages : 500 pages
Book Rating : 4.3/5 (239 download)
Download or read book Genetics and Neurobiology of Down Syndrome written by Bani Bandana Ganguly and published by Academic Press. This book was released on 2022-08-21 with total page 500 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics and Neurobiology of Down Syndrome provides a thorough review of the genetic etiology and mechanisms of trisomy 21. The author discusses the history of the syndrome, along with the clinical features and health consequences, including physical features, cognitive, and neurologic symptoms. Genetic counseling on pros and cons of prenatal screening and testing and associated ethical issues are explored. This unique book also covers the societal and demographic aspects as well as the future direction of therapeutic development. Reviews genetic etiology and mechanisms of trisomy 21 Discusses prenatal screening and genetic counseling, including ethical aspects Explores link between Down Syndrome and susceptibility to Alzheimer’s and early brain aging Covers cognitive and neurological symptoms and other health consequences Identifies future therapeutic developments
Author : National Research Council
Publisher : National Academies Press
ISBN 13 : 0309070864
Total Pages : 348 pages
Book Rating : 4.3/5 (9 download)
Download or read book Scientific Frontiers in Developmental Toxicology and Risk Assessment written by National Research Council and published by National Academies Press. This book was released on 2000-12-21 with total page 348 pages. Available in PDF, EPUB and Kindle. Book excerpt: Scientific Frontiers in Developmental Toxicology and Risk Assessment reviews advances made during the last 10-15 years in fields such as developmental biology, molecular biology, and genetics. It describes a novel approach for how these advances might be used in combination with existing methodologies to further the understanding of mechanisms of developmental toxicity, to improve the assessment of chemicals for their ability to cause developmental toxicity, and to improve risk assessment for developmental defects. For example, based on the recent advances, even the smallest, simplest laboratory animals such as the fruit fly, roundworm, and zebrafish might be able to serve as developmental toxicological models for human biological systems. Use of such organisms might allow for rapid and inexpensive testing of large numbers of chemicals for their potential to cause developmental toxicity; presently, there are little or no developmental toxicity data available for the majority of natural and manufactured chemicals in use. This new approach to developmental toxicology and risk assessment will require simultaneous research on several fronts by experts from multiple scientific disciplines, including developmental toxicologists, developmental biologists, geneticists, epidemiologists, and biostatisticians.
Author : Brian Skotko
Publisher : Special Needs Collection
ISBN 13 : 9781890627867
Total Pages : 0 pages
Book Rating : 4.6/5 (278 download)
Download or read book Fasten Your Seatbelt written by Brian Skotko and published by Special Needs Collection. This book was released on 2009 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Even the closest brothers and sisters don't always get along or understand each other. Add a disability like Down syndrome to the mix, and that sibling relationship gets even more complicated, especially for teenagers. Fasten Your Seatbelt is the first book written exclusively for teens with a brother or sister with Down syndrome. In an easy-to-read, question & answer format, it tackles a broad range of their most common issues and concerns. Nearly 100 questions--all posed by teen siblings--are grouped into the following categories: Facts and stats about Down syndrome How people with Down syndrome learn Handling parent and family conflicts Dealing with your sibling's frustrating behaviors Managing uncomfortable situations Sorting out your feelings Becoming an advocate What the future holds for you and your sibling Finding local and national resources Thoughtful, knowledgeable answers are provided by Brian Skotko, the brother of a young woman with Down syndrome, and Sue Levine, a social worker focused on sibling issues for the past 30 years. Fasten Your Seatbelt gives teens the green light to explore their own feelings and questions about their sibling with Down syndrome and how their relationship may change in the future. Wondering whats on their minds? Here are a few sample questions from the book: Why does my brother always have temper tantrums? How can one extra chromosome make someone so different? Can my sister with Down syndrome marry someday? Will my brother be able to live on his own as an adult?
Author : Andrew D. Dixon
Publisher : CRC Press
ISBN 13 : 1351446657
Total Pages : 500 pages
Book Rating : 4.3/5 (514 download)
Download or read book Fundamentals of Craniofacial Growth written by Andrew D. Dixon and published by CRC Press. This book was released on 2017-12-14 with total page 500 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book brings together in one volume selected important topics in craniofacial growth. Topics include: principles of skeletal growth; osteogenesis and its control; formation of the cranial base and craniofacial joints; prenatal development of the facial skeleton; growth of the mandible, nasomaxillary complex, orbit, cranial base, ear capsule, and cranial vault; bone remodeling; muscles; soft tissues; and blood vessels. Fundamentals of Craniofacial Growth contains detailed illustrations and extensive reference lists. Independently authored chapters provide comprehensive reviews encompassing both contemporary and historical perspectives. In addition to medicine and dentistry, contributors provide expertise from such diverse backgrounds as anatomy, biology, biomathematics, embryology, orthodontics, physical anthropology, and plastic and reconstructive surgery.
Author : John C. Carey
Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.1/5 (194 download)
Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Author : Dennis E. Slice
Publisher : Springer Science & Business Media
ISBN 13 : 0387276149
Total Pages : 392 pages
Book Rating : 4.3/5 (872 download)
Download or read book Modern Morphometrics in Physical Anthropology written by Dennis E. Slice and published by Springer Science & Business Media. This book was released on 2006-06-01 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: Morphometrics has undergone a revolutionary transformation in the past two decades as new methods have been developed to address shortcomings in the traditional multivirate analysis of linear distances, angles, and indices. While there is much active research in the field, the new approaches to shape analysis are already making significant and ever-increasing contributions to biological research, including physical anthropology. Modern Morphometrics in Physical Anthropology highlights the basic machinery of the most important methods, while introducing novel extensions to these methods and illustrating how they provide enhanced results compared to more traditional approaches. Modern Morphometrics in Physical Anthropology provides a comprehensive sampling of the applications of modern, sophisticated methods of shape analysis in anthropology, and serves as a starting point for the exploration of these practices by students and researchers who might otherwise lack the local expertise or training to get started. This text is an important resource for the general morphometric community that includes ecologists, evolutionary biologists, systematists, and medical researchers.
Author : Damir Janigro
Publisher : Springer Science & Business Media
ISBN 13 : 1607612879
Total Pages : 237 pages
Book Rating : 4.6/5 (76 download)
Download or read book Mammalian Brain Development written by Damir Janigro and published by Springer Science & Business Media. This book was released on 2009-09-18 with total page 237 pages. Available in PDF, EPUB and Kindle. Book excerpt: Denis Noble Nearly a decade after completion of the first draft of the entire Human Genome sequence we are in a better position to assess the nature and the consequences of that heroic achievement, which can be seen as the culmination of the molecular biological revolution of the second half of the twentieth century. The achievement itself was celebrated at the highest levels (President and Prime Minister) on both sides of the Atlantic, and rightly so. DNA sequencing has become sufficiently c- mon now, even to the extent of being used in law courts, that it is easy to forget how technically difficult it was and how cleverly the sequencing teams solved those problems in the exciting race to finish by the turn of the century [1, 2]. The fanfares were misplaced, however, in an important respect. The metaphors used to describe the project and its biological significance gave the impression to the public at large, and to many scientists themselves, that this sequence would reveal the secrets of life. DNA had already been likened to a computer program [3]. The “genetic program” for life was therefore to be found in those sequences: A kind of map that had simply to be unfolded during development. The even more colo- ful “book of life” metaphor gave the promise that reading that book would lead to a veritable outpouring of new cures for diseases, hundreds of new drug targets, and a brave new world of medicine.
