Human chromosomal

This book is meant to summarize our current knowledge of the structure, function and evolution of microtubule organizing centers, primarily centrosomes. Emphasis is on the role of these organelles in development and disease (particularly cancer).

474p vimeyers 29-05-2024 2 2   Download

Ebook "Post-genome biology of primates" comprises a collection of articles on a variety of topics relevant to primate genomes, including evolution, human origins, genome structure, chromosome genomics, and bioinformatics. The book covers the cutting-edge research in molecular primatology and provides great insights into the functional diversity of primates. This valuable collection will benefit researchers and students, including primatologists, anthropologists, molecular biologists, evolutionary biologists, and animal behaviorists.

290p ladongphongthanh1008 22-04-2024 4 2   Download

Ebook "Molecular biology of long non-coding RNAs" will consolidate these ideas and models to better examine the most important issues in lncRNA biology. This will include critical studies that have led to the discovery and annotation of lncRNAs in numerous species, and the molecular mechanisms for a few lncRNA that have begun to emerge.

232p tracanhphuonghoa1007 22-04-2024 1 1   Download

In ebook "Genome instability in cancer development" studies on animal tumour viruses and chromosome rearrangements in human tumours have concurred to identify so-called ‘proto-oncogenes’ and ‘tumour suppressor genes’, whose deregulation promotes carcinogenesis. These important findings not only explain the occurrence of certain hereditary tumours, but they also set the stage for the development of anti-cancer drugs that specifically target activated oncogenes.

509p tracanhphuonghoa1007 22-04-2024 2 1   Download

Allele-specific expression (ASE) is differential expression of each of the two chromosomal alleles of an autosomal gene. We assessed ASE patterns in the human left atrium (LA, n = 62) and paired samples from the left ventricle (LV, n = 76) before and after ischemia, and tested the utility of differential ASE to identify genes associated with postoperative atrial fibrillation (poAF) and myocardial ischemia.

11p vioraclene 31-03-2024 3 2   Download

Molecular autopsy refers to DNA-based identification of the cause of death. Despite recent attempts to broaden its scope, the term remains typically reserved to sudden unexplained death in young adults. In this study, we aim to showcase the utility of molecular autopsy in defining lethal variants in humans.

11p vibransone 28-03-2024 3 2   Download

The multiple de novo copy number variant (MdnCNV) phenotype is described by having four or more constitutional de novo CNVs (dnCNVs) arising independently throughout the human genome within one generation. It is a rare peri-zygotic mutational event, previously reported to be seen once in every 12,000 individuals referred for genome-wide chromosomal microarray analysis due to congenital abnormalities.

21p viellison 28-03-2024 2 2   Download

Ebook "Subtelomeres" provides a broad introduction to the field of subtelomeres with detailed information from various fields and systems, covering yeasts and fungi, pathogens and parasites, plants, insects, humans and primates and bacteria with linear chromosomes. Advances in the field as well as continuing challenges are discussed throughout.

275p manmanthanhla0201 26-02-2024 6 1   Download

Part 2 book "Animal models and human reproduction" includes content: The mare as an animal model for reproductive aging in the woman, spotlight on reproduction in domestic dogs as a model for human reproduction, animal models of inflammation during pregnancy, prezygotic chromosomal examination of mouse spermatozoa, molecular and cellular aspects of mammalian sperm acrosomal exocytosis,... and other contents.

350p muasambanhan04 07-01-2024 3 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 6 2   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 3 1   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

HLA (Human Leukocyte Antigen) gene is located on chromosome 6’s short arm, including several loci. HLA genotyping is necessary for transplantation, especially in hematopoietic stem cell transplantation. A crosssectional study to determine the frequency of HLA-A, HLA-B, and HLA-DRB1 alleles of 122 patients admitted to the National Children’s Hospital for Hematopoietic stem cell transplantation from the year between 2010 and 2020.

8p vihawkeye 26-05-2023 7 4   Download

Down’s syndrome is the most common chromosomal abnormality in humans. It has been associated with central nervous system tumors such as primary acute lymphoblastic leukemia and germinomas, but desmoplastic infantile astrocytoma has not yet been reported with Down’s syndrome.

9p vigamora 23-05-2023 4 2   Download

The ends of linear chromosomes, the telomeres, comprise repetitive DNA sequences in complex with proteins that protects them from being processed by the DNA repair machinery. Cancer cells need to counteract the shortening of telomere repeats during replication for their unlimited proliferation by reactivating the reverse transcriptase telomerase or by using the alternative lengthening of telomeres (ALT) pathway.

10p vinarcissa 21-03-2023 2 1   Download

In the Western world bovine milk products are an important protein source in human diet. The major proteins in bovine milk are the four caseins (CN), αS1-, αS2-, β-, and k-CN and the two whey proteins, β-LG and α-LA. It has been shown that both the amount of specific CN and their isoforms including post-translational modifications (PTM) influence technological properties of milk.

12p vinarcissa 21-03-2023 4 1   Download

Down syndrome incidence in humans increases dramatically with maternal age. This is mainly the result of increased meiotic errors, but factors such as differences in abortion rate may play a role as well. Since the meiotic error rate increases almost exponentially after a certain age, its contribution to the overall incidence aneuploidy may mask the contribution of other processes.

8p vinarcissa 21-03-2023 5 1   Download

Using metaphase spreads from human lymphoblastoid cell lines, we previously showed how immunofluorescence microscopy could define the distribution of histone modifications across metaphase chromosomes. We showed that different histone modifications gave consistent and clearly defined immunofluorescent banding patterns.

7p vinarcissa 21-03-2023 2 1   Download

The ZFHX3 gene, located in Chromosome 16q22.3, codes for a transcription factor which is widely expressed in human tissues. Genome-wide studies have identified associations between variants within the gene and Kawasaki disease and atrial fibrillation.

7p vinarcissa 21-03-2023 3 1   Download

X-chromosome inactivation silences one X chromosome in females to achieve dosage compensation with the single X chromosome in males. While most genes are silenced on the inactive X chromosome, the gene for the long non-coding RNA XIST is silenced on the active X chromosome and expressed from the inactive X chromosome with which the XIST RNA associates, triggering silencing of the chromosome.

11p vinarcissa 21-03-2023 5 1   Download