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Fragile X syndrome is one of the main causes of child developmental delay and autism spectrum disorders. This book breaks down the complex science of this genetic disorder and provides the facts and advice that every bewildered parent or professional needs to support individuals with Fragile X syndrome.
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The Carriers investigates a common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how fragile X syndrome afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics.
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This book covers both molecular and clinical aspects of Fragile X Syndrome (FXS) and premutation disorders so that new targeted treatments can be understood by clinicians and parents. It covers all premutation disorders including FXTAS, FXPOI and FXAND problems. The main focus is to help clinicians to give the best care possible to patients with FXS and to understand a multidisciplinary treatment approach. Underserved populations such as babies and toddlers with FXS and mothers with the full mutation are highlighted, including the treatments that can be beneficial to them. This book also discuss fragile X associated disorders as they impact the family whose proband has FXS. A highlight of this book is the international perspective on how different cultures deal with FXS and targeted treatments.
Fragile X syndrome. --- Autism --- Pediatrics
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Autism spectrum disorders (ASDs) are a group of genetically and clinically heterogeneous neurodevelopmental disorders characterized by impaired reciprocal social interactions and communication, and restricted and repetitive patterns of behaviors and interests. Studies in genetics, neurobiology and systems biology are providing insights into the pathogenesis of ASDs. Investigation of neural and synaptic defects in ASDs not only sheds light on the molecular and cellular mechanisms that govern the function of the central nervous system, but may lead to the discovery of potential therapeutic targets for autism and other cognitive disorders. Our Research Topic which constitutes this e-book documents the recent development and ideas in the study of pathogenesis and treatment of ASDs, with an emphasis on syndromic disorders such as fragile X and Rett syndromes. In addition, model systems and methodological approaches with translational relevance to autism are covered herein. We hope that the Research Topic will enhance the global knowledge base in the autism research community and foster new research directions in autism related biology.
MeCP2 --- Treatment --- Fragile X Syndrome --- Pathogenesis --- FMRP --- Autism Spectrum Disorders --- Pharmacology --- Synaptic deficits --- synaptic plasticity --- Rett Syndrome
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The present book is an in-depth synopsis of recent advances in the fragile X field. The fragile X syndrome (FXS) is the most common form of inherited mental retardation, and the molecular-genetic basis of this syndrome has been the subject of extensive experimental scrutiny over the last two decades. This book covers the spectrum of current FXS research, ranging from Drosophila model systems via mouse models to clinical and psychiatric aspects. The volume also provides updates on FXS-related diseases such as the fragile X-associated tremor/ataxia syndrome. Significant progress in recent years, as highlighted here by some of the most eminent researchers in the field, are grounds for optimism that successful therapeutical approaches may be feasible in the not too distant future.
Fragile X syndrome. --- Fragile X syndrome -- Animal models. --- Fragile X syndrome --- Mental Retardation, X-Linked --- Sex Chromosome Disorders --- Investigative Techniques --- Chromosome Disorders --- Mental Retardation --- Analytical, Diagnostic and Therapeutic Techniques and Equipment --- Genetic Diseases, X-Linked --- Heredodegenerative Disorders, Nervous System --- Neurobehavioral Manifestations --- Genetic Diseases, Inborn --- Congenital Abnormalities --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Neurologic Manifestations --- Nervous System Diseases --- Diseases --- Fragile X Syndrome --- Models, Animal --- Medicine --- Biology --- Health & Biological Sciences --- Pediatrics --- Cytology --- Animal models --- X-linked mental retardation. --- XLMR (Disease) --- fra(X) syndrome --- Life sciences. --- Human genetics. --- Gene therapy. --- Molecular biology. --- Cell biology. --- Stem cells. --- Neurobiology. --- Life Sciences. --- Cell Biology. --- Human Genetics. --- Molecular Medicine. --- Stem Cells. --- Gene Therapy. --- Intellectual disability --- X chromosome --- Syndromes --- X-linked mental retardation --- Abnormalities --- Cytology. --- Medicine. --- Therapy, Gene --- Genetic engineering --- Therapeutics --- Colony-forming units (Cells) --- Mother cells --- Progenitor cells --- Cells --- Neurosciences --- Clinical sciences --- Medical profession --- Human biology --- Life sciences --- Medical sciences --- Pathology --- Physicians --- Genetics --- Heredity, Human --- Physical anthropology --- Cell biology --- Cellular biology --- Cytologists --- Health Workforce --- Molecular biochemistry --- Molecular biophysics --- Biochemistry --- Biophysics --- Biomolecules --- Systems biology --- Medical genetics. --- Neurosciences. --- Medical Genetics. --- Biomedical Research. --- Neuroscience. --- Stem Cell Biology. --- Clinical Genetics. --- Research. --- Neural sciences --- Neurological sciences --- Neuroscience --- Nervous system --- Biological research --- Biomedical research --- Clinical genetics --- Heredity of disease --- Human genetics --- Genetic disorders --- Genetic aspects
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This book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS, FXPOI and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments. The book will present information on all aspects of FXTAS, FXPOI and other premutation disorders including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed.
Medicine. --- Human genetics. --- Molecular biology. --- Neurosciences. --- Biomedicine. --- Human Genetics. --- Molecular Medicine. --- Fragile X syndrome. --- Nervous system --- Diseases. --- Medical neurology --- Nerves --- Neuropathology --- fra(X) syndrome --- Diseases --- Neurologic disorders --- Neurological disorders --- Neurology --- Syndromes --- X-linked mental retardation --- Neural sciences --- Neurological sciences --- Neuroscience --- Medical sciences --- Clinical sciences --- Medical profession --- Human biology --- Life sciences --- Pathology --- Physicians --- Genetics --- Heredity, Human --- Physical anthropology --- Health Workforce --- Molecular biochemistry --- Molecular biophysics --- Biochemistry --- Biophysics --- Biomolecules --- Systems biology
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In The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS), the editors present information on all aspects of FXTAS, including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed. The book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments.
Chromosome abnormalities. --- Fragile X syndrome. --- Tremor -- Genetic aspects. --- Tremor -- Therapy. --- Tremor. --- Fragile X syndrome --- Tremor --- Chromosome abnormalities --- Fragile X Syndrome --- Chromosome Fragility --- Genetics --- Ataxia --- Chromosome Fragile Sites --- Sex Chromosome Disorders --- Chromosomal Instability --- Dyskinesias --- Mental Retardation, X-Linked --- DNA Sequence, Unstable --- Biology --- Chromosome Disorders --- Biological Science Disciplines --- Genome Components --- Genomic Instability --- Neurologic Manifestations --- Chromosome Aberrations --- Heredodegenerative Disorders, Nervous System --- Genetic Diseases, X-Linked --- Mental Retardation --- Congenital Abnormalities --- Pathologic Processes --- Mutation --- Genetic Diseases, Inborn --- Natural Science Disciplines --- Neurobehavioral Manifestations --- Genetic Phenomena --- Nervous System Diseases --- Signs and Symptoms --- Genome --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Diseases --- Pathological Conditions, Signs and Symptoms --- Genetic Structures --- Genetic Variation --- Disciplines and Occupations --- Phenomena and Processes --- Pediatrics --- Pathology --- Medicine --- Health & Biological Sciences --- Genetic aspects --- fra(X) syndrome --- Medicine. --- Human genetics. --- Molecular biology. --- Neurosciences. --- Biomedicine. --- Human Genetics. --- Molecular Medicine. --- Syndromes --- X-linked mental retardation --- Neural sciences --- Neurological sciences --- Neuroscience --- Medical sciences --- Nervous system --- Clinical sciences --- Medical profession --- Human biology --- Life sciences --- Physicians --- Heredity, Human --- Physical anthropology --- Health Workforce --- Molecular biochemistry --- Molecular biophysics --- Biochemistry --- Biophysics --- Biomolecules --- Systems biology
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It has been more than 25 years since the identification of the FMR1 gene and the demonstration of the causative role of CGG-repeat expansion in the disease pathology of fragile X syndrome (FXS), but the underlying mechanisms involved in the expansion mutation and the resulting gene silencing still remain elusive. Our understanding of the pathways impacted by the loss of FMRP function has grown tremendously, and has opened new avenues for targeted treatments for FXS. However, the failure of recent clinical trials that were based on successful preclinical studies using the Fmr1 knockout mouse model has forced the scientific community to revisit clinical trial design and identify objective outcome measures. There has also been a renewed interest in restoring FMR1 gene expression as a possible treatment approach for FXS. This special issue of Brain Sciences highlights the progress that has been made towards understanding the disease mechanisms and how this has informed the development of treatment strategies that are being explored for FXS.
n/a --- lymphoblast --- pluripotent stem cells --- FMR1 --- Gene editing --- X chromosome --- Fmr1 --- epigenetic gene silencing --- FMR1 gene --- Fragile X syndrome 1 --- repeat instability --- characteristics that have the greatest impact --- DNA instability --- working memory --- language development --- mosaicism --- CRISPR 3 --- clinical trials --- autism spectrum disorders --- Fmr1 KO mouse --- automated vocal analysis --- base excision repair (BER) --- inhibitory control --- cerebral spinal fluid --- iPSC --- drug development --- targeted treatments --- molecular biomarkers --- viral vector --- avoidance --- biomarker --- set-shifting --- early identification --- expansion --- anxiety --- planning --- voice of the person --- mismatch repair (MMR) --- gene reactivation --- double-strand break repair (DSBR) --- newborn screening --- intellectual disability --- processing speed --- voice of the patient --- fragile X syndrome --- adeno-associated virus --- neurodevelopmental disorders --- histone methylation --- Non-homologous end-joining (NHEJ) --- ASD --- Fxr2 --- Fragile X-associated Tremor/Ataxia Syndrome 2 --- Trinucleotide Repeat 4 --- CGG Repeat Expansion Disease --- DNA methylation --- contraction --- fragile X mental retardation protein --- RNA:DNA hybrid --- behavior --- developmental disorders --- cognition --- females --- FMRP --- Fragile X Syndrome --- unstable repeat diseases --- protein synthesis --- brain --- cognitive flexibility --- treatment development --- fibroblast --- PRC2 --- transcription coupled repair (TCR) --- best practices --- attention --- Fragile X --- executive function
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Mental retardation --- Mental Retardation. --- Mental retardation. --- Intellectual Disability. --- Mental Retardation --- Intellectual disability --- Intellectual disability. --- Deficiency, Mental --- Intellectual Development Disorder --- Mental Deficiency --- Mental Retardation, Psychosocial --- Disability, Intellectual --- Idiocy --- Retardation, Mental --- Deficiencies, Mental --- Development Disorder, Intellectual --- Development Disorders, Intellectual --- Disabilities, Intellectual --- Disorder, Intellectual Development --- Disorders, Intellectual Development --- Intellectual Development Disorders --- Intellectual Disabilities --- Mental Deficiencies --- Mental Retardations, Psychosocial --- Psychosocial Mental Retardation --- Psychosocial Mental Retardations --- Retardation, Psychosocial Mental --- Retardations, Psychosocial Mental --- Abnormalities, Multiple --- Cockayne Syndrome --- Cri-du-Chat Syndrome --- De Lange Syndrome --- Fragile X Syndrome --- Laurence-Moon Syndrome --- Prader-Willi Syndrome --- Rubinstein-Taybi Syndrome --- Rett Syndrome --- Angelman Syndrome --- Williams Syndrome --- Persons with Mental Disabilities --- Brain Diseases, Metabolic, Inborn --- Bardet-Biedl Syndrome --- Intellectual disabilities --- Mental deficiency --- Developmental disabilities --- Psychology, Pathological --- People with mental disabilities --- Déficience intellectuelle --- Déficience intellectuelle. --- intellectual disability.
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