Genetic abnormalities

Acute myeloid leukemia (AML), characterized by the abnormal accumulation of immature marrow cells in the bone marrow, is a malignant tumor of the blood system. Currently, the pathogenesis of AML is not yet clear. Therefore, this study aims to explore the mechanisms underlying the development of AML.

20p vishanshan 27-06-2024 1 1   Download

Part 1 book "Paediatric and adolescent gynaecology - A multidisciplinary approach" includes content: Embryology of the female genital tract, molecular genetics of gonad development, gonadotrophin receptors, normal childhood, puberty and adolescence, acontrol of the menstrual cycle and fertility, nutrition and reproductive function, management of developmental abnormalities of the genital tract.

228p zizaybay1101 30-04-2024 2 2   Download

Abnormal pre-mRNA splicing regulation is common in cancer, but the effects of chemotherapy on this process remain unclear. To evaluate the effect of chemotherapy on slicing regulation, we performed meta-analyses of previously published transcriptomic, proteomic, phosphoproteomic, and secretome datasets.

18p vibransone 28-03-2024 4 2   Download

The genetic and immunological factors that contribute to differences in susceptibility and progression between sub-types of inflammatory and autoimmune diseases continue to be elucidated. Inflammatory bowel disease and juvenile idiopathic arthritis are both clinically heterogeneous and known to be due in part to abnormal regulation of gene activity in diverse immune cell types.

16p vibransone 28-03-2024 2 2   Download

Neurodevelopmental disorders (NDDs) such as autism spectrum disorder, intellectual disability, developmental disability, and epilepsy are characterized by abnormal brain development that may affect cognition, learning, behavior, and motor skills. High co-occurrence (comorbidity) of NDDs indicates a shared, underlying biological mechanism.

14p vibransone 28-03-2024 5 2   Download

The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria for different types of evidence. This includes the strong evidence codes PS3 and BS3 for “well-established” functional assays demonstrating a variant has abnormal or normal gene/protein function, respectively.

12p vibransone 28-03-2024 3 2   Download

Colorectal adenocarcinomas are characterized by abnormal mitochondrial DNA (mtDNA) copy number and genomic instability, but a molecular interaction between mitochondrial and nuclear genome remains unknown. Here we report the discovery of increased copies of nuclear mtDNA (NUMT) in colorectal adenocarcinomas, which supports link between mtDNA and genomic instability in the nucleus.

15p vioraclene 31-03-2024 5 1   Download

Ebook "HOX gene expression (Molecular biology intelligence unit)" is crucial not only in exploring the enigma of homeosis but also in understanding normal development at the fundamental molecular level. "Hox Gene Expression" starts with the amazing discovery of the homeobox twenty-three years ago and follows the exciting path thereafter of a series of breakthroughs in Genetics, Development and Evolution. It deals with homeotic genes- their evolution, structure, normal and abnormal function.

158p cotieubac1004 15-03-2024 1 0   Download

Ebook A practical guide to fetal echocardiography: Normal and abnormal hearts (Third edition) - Part 1 includes content: Embryology of the heart, genetic aspects of congenital heart diseases, cardiac anatomy, fetal situs, systematic evaluation of the venous system,… and other contents. Invite you to consult the details.

505p longtimenosee03 01-02-2024 4 0   Download

Metabolic bone disease causes significant morbidity and mortality, especially when misdiagnosed. With genetic testing, multiple disease pathologies can be analyzed. A 5-year and 9-month-old otherwise healthy Yemeni girl presented to her Yemen physician for evaluation of inward bending of her right knee and short stature.

6p vitiki 30-01-2024 6 2   Download

Part 1 book "Reproductive endocrinology" includes content: Introduction to the molecular organization of the endocrine reproductive system; extracellular signaling receptors; the molecules that transmit information into the cell - the intracellular signaling pathways; introduction to molecular biology - structure and function of the macromoleculesof genetic information; regulation of gene expression; molecular basis of abnormal phenotype; recombinant DNA technology,... and other contents.

159p muasambanhan03 25-12-2023 1 1   Download

Part 2 book "Veterinary genetics and reproductive physiology" includes content: Reproductive physiology, reproductive physiology of the dog, reproductive physiology of the cat, reproductive physiology of the horse.

64p muasambanhan02 18-12-2023 4 0   Download

Myelodysplastic syndromes (MDS) are clonal hematopoietic diseases of the elderly characterized by chronic cytopenias, ineffective and dysplastic haematopoiesis, recurrent genetic abnormalities and increased risk of progression to acute myeloid leukemia.

10p vialfrednobel 23-12-2023 4 3   Download

Part 2 book "Poultry feathers and skin - The poultry integument in health and welfare" includes content: Genetics of feather pigmentation and chicken plumage colouration, genetics and breeding aspects of feather coverage and their effects on performance in broilers, the genetics of contact dermatitis in poultry, effects of nutritional interventions on feathering of poultry – a review, strengthening the inside - effect of nutrition on gut health and maintenance and its impact on the integument integrity,... and other contents.

99p oursky09 12-11-2023 8 3   Download

Part 1 book "Horse genetics" includes content: Putting it all together - color by design, parentage testing, medical genetics, the horse karyotype and chromosomal abnormalities, genetics of performance, pedigrees and breeding schemes, y chromosomes, mitochondria, epigenetics, and incomplete penetrance, genetic nature of breeds, equus, frequently asked questions, where do we go from here.

120p oursky07 23-10-2023 3 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

Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder that is associated with dysmorphism, moderate to severe intellectual disability and abnormalities involving multiple organ systems. For anesthetists, these patients pose unique challenges in the administration of anesthesia and airway management.

4p viintuit 26-09-2023 0 0   Download

Part 1 book "Pathophysiology for the health professions" includes content: Introduction to pathophysiology, inflammation and healing, immunity and abnormal responses, infection, neoplasms, congenital and genetic disorders, diseases associated with adolescence, aging and disease processes, potential complications of pregnancy,... and other contents.

350p oursky04 05-09-2023 5 0   Download

Part 2 book "Emery’s elements of medical genetics" includes content: Congenital abnormalities, dysmorphic syndromes, and learning disability; chromosome disorders; inborn errors of metabolism; mainstream monogenic disorders; genetic counseling, mainstream monogenic disorders; prenatal testing and reproductive genetics; ethical and legal issues in medical genetics.

186p oursky03 21-08-2023 3 2   Download

Factor VII deficiency is a rare inherited bleeding disorder that has similar clinical presentation to hemophilia. Even though factor VII deficiency is an extremely rare bleeding disorder, it does occur in our setting. This case highlights the need for clinicians to consider this condition when faced with challenging patients presenting with bleeding disorders.

4p vidoctorstrange 06-05-2023 2 2   Download