Human genetic disorders

Ebook "Stem cells in modeling human genetic diseases" examples of the use of iPS cell technology, a recent Nobel Prize-winning scientific breakthrough, to obtain patient-specific pluripotent cells from which many types of specialized cells involved in a particular disease can be generated, including psychiatric and neurodegenerative disorders, muscular dystrophies, laminopathies, among others.

157p ladongphongthanh1008 22-04-2024 6 2   Download

Reprogramming human induced pluripotent stem cells (iPSCs) from somatic cells and generating three-dimensional brain organoids from these iPSCs provide access to live human neuronal tissue with diseasespecific genetic backgrounds.

16p vibransone 28-03-2024 5 2   Download

Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders. Methods: Two pediatric patients with global developmental delay and intellectual disability phenotype underwent array-CGH genetic testing, both showing a partial deletion of the DLG2 gene. From independent human and murine omics datasets, we combined copy number variations, histone modifications, developmental tissue-specific regulation, and protein data to explore the molecular mechanism at play.

20p vioraclene 31-03-2024 4 2   Download

Genetic variants in the voltage-gated sodium channels SCN1A, SCN2A, SCN3A, and SCN8A are leading causes of epilepsy, developmental delay, and autism spectrum disorder. The mRNA splicing patterns of all four genes vary across development in the rodent brain, including mutually exclusive copies of the fifth protein-coding exon detected in the neonate (5N) and adult (5A).

14p vibransone 28-03-2024 2 1   Download

Non-coding regulatory elements (NCREs), such as enhancers, play a crucial role in gene regulation, and genetic aberrations in NCREs can lead to human disease, including brain disorders. The human brain is a complex organ that is susceptible to numerous disorders.

27p vibransone 28-03-2024 7 2   Download

Ebook "Systems analysis of human multigene disorders" Understanding the genetic architecture underlying complex multigene disorders is one of the major goals of human genetics in the upcoming decades. Advances in whole genome sequencing and the success of high throughput functional genomics allow supplementing conventional reductionist biology with systems-level approaches to human heredity and health as systems of interacting genetic, epigenetic, and environmental factors.

134p duongthandue0501 28-02-2024 1 1   Download

Fibrodysplasia ossifcans progressiva (FOP) as a rare and heritable disorder with the infrequent genetic transmission of the condition is a catastrophic disorder of heterotopic ossifcation (HO) and a cause of extraskeletal bone formation in humans. Given the lack of effective treatment for this disease, the important point is to avoid aggravating factors such as bone biopsy, surgery, and intramuscular injection.

4p vitiki 30-01-2024 2 2   Download

Part 1 book "Genetics in medicine" includes content: Introduction, introduction to the human genome, the human genome, human genetic diversity - mutation and polymorphism, principles of clinical cytogenetics and genome analysis, the chromosomal and genomic basis of disease - disorders of the autosomes and sex chromosomes, patterns of single gene inheritance, complex inheritance of common multifactorial disorders, genetic variation in populations, identifying the genetic basis for human disease.

197p oursky09 08-11-2023 7 3   Download

Part 1 book "Dogs - Biology, behavior, and health disorders" includes content: How the past affects the present - A genetic history of the irish wolfhound - Genetics of dog behavior, what do dogs understand about human communicative signals - A novel synthesis,.... and other contents.

139p oursky06 17-10-2023 5 2   Download

Part 2 book "Clinical molecular medicine - Principles and practice" includes content: Molecular genetic management of epilepsy, the human leukocyte antigen system in human disease and transplantation medicine, disorders of abnormal hemoglobin, coagulation and bleeding disorders,...and other contents.

292p oursky06 17-10-2023 1 1   Download

Part 1 book "Genetics in medicine" includes content: Introduction to the human genome; the human genome, human genetic diversity - mutation and polymorphism; principles of clinical cytogenetics and genome analysis; the chromosomal and genomic basis of disease: disorders of the autosomes and sex chromosomes; patterns of single gene inheritance,.... and other contents.

197p oursky05 20-09-2023 4 1   Download

Part 1 book "Essential MCQs in pediatrics - Review of nelson essentials odd pediatrics" includes content: Metabolic disorders, fetal and neonatal medicine, adolescent medicine, immunology, allergy, the profession of pediatrics, growth and development, behavioral disorders, psychiatric disorders, psychosocial issues, pediatric nutrition and nutritional disorders, fluids and electrolytes, the acutely ill or injured child, human genetics and dysmorphology

189p oursky04 05-09-2023 1 1   Download

Part 1 book "Nelson textbook of pediatrics" includes content: The field of pediatrics; child health disparities; growth, development, and behavior; behavioral and psychiatric disorders; learning and developmental disorders; nutrition; fluid and electrolyte disorders; pediatric drug therapy; emergency medicine and critical care; human genetics.

1078p oursky03 28-08-2023 6 1   Download

Part 1 book "Nelson textbook of pediatrics" includes content: the Field of pediatrics; growth, development, and behavior; behavioral and psychiatric disorders; learning disorders; children with special needs; nutrition; fluid and electrolyte disorders; pediatric drug therapy; the acutely ill child; human genetics; metabolic disorders.

1051p oursky03 21-08-2023 10 2   Download

Part 1 book "Nelson essentials of pediatrics" includes content: Profession of pediatrics, pediatric nutrition and nutritional disorders, growth and development, fluids and electrolytes, behavioral disorders, acutely ill or injured child, psychiatric disorders, psychosocial issues, human genetics and dysmorphology, metabolic disorders, rheumatic diseases of childhood, fetal and neonatal medicine, allergy, adolescent medicine.

376p oursky01 24-07-2023 3 2   Download

Part 1 book "Medical genetics " includes contents: Background and history; basic cell biology - Structure and function of genes and chromosomes, genetic variation - Its origin and detection, autosomal dominant and recessive inheritance, sex linked and nontraditional modes of inheritance, clinical cytogenetics - The chromosomal basis of human disease; biochemical genetics - Disorders of metabolism.

163p oursky01 17-07-2023 3 2   Download

Part 1 book "Nelson essentials of pediatrics" includes contents: Profession of pediatrics, growth and development, behavioral disorders, psychiatric disorders, psychosocial issues, pediatric nutrition and nutritional disorders, fluids and electrolytes, acutely ill or injured child, human genetics and dysmorphology, metabolic disorders, fetal and neonatal medicine, adolescent medicine, immunology, allergy, rheumatic diseases of childhood.

376p oursky01 17-07-2023 6 2   Download

Previously, it was shown that the HFE gene (associated with human hereditary hemochromatosis) has several haplotypes of intronic polymorphisms. Some haplotype frequencies are race specific and hence can be used in phylogenetic analysis.

13p vinarcissa 21-03-2023 2 1   Download

Neuregulin 3 (NRG3) plays a key role in central nervous system development and is a strong candidate for human mental disorders. Thus, genetic variation in NRG3 may have some impact on a variety of phenotypes in non-mammalian vertebrates. Recently, genome-wide screening for short insertions and deletions in chicken (Gallus gallus) genomes has provided useful information about structural variation in functionally important genes.

10p vinarcissa 21-03-2023 7 1   Download

There has been considerable interest in discovery of the genetic architecture of complex traits, particularly age-related neurodegenerative disorders. To predict disease risk and to understand its genetic basis in humans, it is necessary to study animal models.

17p vinarcissa 21-03-2023 3 1   Download