Human phenotypes

Pancreatic ductal adenocarcinoma (PDAC) presents with a high mortality rate. Two important features of PDAC contribute to this poor outcome. The first is metastasis which occurs in~80% of PDAC patients. The second is cachexia, which compromises treatment tolerance for patients and reduces their quality of life.

19p vishanshan 27-06-2024 1 1   Download

Forensic anthropology builds upon the skills developed within physical anthropology which focus on human osteology. The aim is to allow the bones to "speak," to allow the deceased to tell a story about who they were, how they lived and how they died. Our ability to "listen" depends largely upon our willingness to understand the principles by which the body is formed, how and why humans may vary phenotypically, and how the body responds to the environment in which it lives and dies.

390p vimeyers 29-05-2024 3 2   Download

Ebook "Regulation of gene expression in the tumor environment (Regulation of melanoma progression by the microenvironment: The roles of PAR-1 and PAF)" will discuss several different aspects on the cross talk within the tumor microenvironment components leading to the acquisition of the metastasis phenotype. It is our hope that these state-of-the-art studies will shed further light on our understanding of these complicated processes.

155p ladongphongthanh1008 22-04-2024 3 2   Download

Ebook "Tight junctions" highlight the importance of understanding TJ physiology in order to develop effective strategies for the treatment of pathological conditions such as cancer and autoimmune diseases. The first chapter of this book describes the evolution of the transporting epithelium from primitive metazoans to mammalian epithelia. Then, Chapters 2, 3, 4, 5, 6 and 7 review the characteristics and functionality of difi^erent proteins of theTJ studied in cell culture models, natural epithelia, mutant mice and heritable human diseases.

235p ladongphongthanh1008 22-04-2024 5 2   Download

The Ras pathway genes KRAS, BRAF, or ERBBs have somatic mutations in ~ 60% of human colorectal carcinomas. At present, it is unknown whether the remaining cases lack mutations activating the Ras pathway or whether they have acquired mutations in genes hitherto unknown to belong to the pathway.

13p vibransone 28-03-2024 6 2   Download

Germinal center-derived B cell lymphomas are tumors of the lymphoid tissues representing one of the most heterogeneous malignancies. Here we characterize the variety of transcriptomic phenotypes of this disease based on 873 biopsy specimens collected in the German Cancer Aid MMML (Molecular Mechanisms in Malignant Lymphoma) consortium.

20p vibransone 28-03-2024 2 1   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

Phenotypic changes during cancer progression are associated with alterations in gene expression, which can be exploited to build molecular signatures for tumor stage identification and prognosis. However, it is not yet known whether the relative abundance of transcript isoforms may be informative for clinical stage and survival.

14p vioraclene 31-03-2024 5 2   Download

Imiquimod (IMQ) produces a cutaneous phenotype in mice frequently studied as an acute model of human psoriasis. Whether this phenotype depends on strain or sex has never been systematically investigated on a large scale. Such effects, however, could lead to conflicts among studies, while further impacting study outcomes and efforts to translate research findings.

21p vioraclene 31-03-2024 6 1   Download

Genome-wide data are increasingly important in the clinical evaluation of human disease. However, the large number of variants observed in individual patients challenges the efficiency and accuracy of diagnostic review. Recent work has shown that systematic integration of clinical phenotype data with genotype information can improve diagnostic workflows and prioritization of filtered rare variants.

17p vioraclene 31-03-2024 1 1   Download

To demonstrate the causative role of gut microbiome in human health and diseases, we first need to identify, via next-generation sequencing, potentially important functional members associated with specific health outcomes and disease phenotypes.

12p vibransone 28-03-2024 2 2   Download

We present PhenCards (https://phencards.org), a database and web server intended as a one-stop shop for previously disconnected biomedical knowledge related to human clinical phenotypes. Users can query human phenotype terms or clinical notes. PhenCards obtains relevant disease/phenotype prevalence and co-occurrence, drug, procedural, pathway, literature, grant, and collaborator data.

9p vibransone 28-03-2024 7 1   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 3 2   Download

Klebsiella pneumoniae (Kp) Gram-negative bacteria cause nosocomial infections and rapidly acquire antimicrobial resistance (AMR), which makes it a global threat to human health. It also has a comparatively rare hypervirulent phenotype that can lead to severe disease in otherwise healthy individuals.

12p vicwell 29-02-2024 4 1   Download

Human proteins are widely used as drug targets. Integration of large-scale protein-level genome-wide association studies (GWAS) and disease-related GWAS has thus connected genetic variation to disease mechanisms via protein. Previous proteome-by-phenome-wide Mendelian randomization (MR) studies have been mainly focused on plasma proteomes.

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In ebook "Ecology and the environment (The plant sciences series)" plant biology is considered from the perspective of plants and their surrounding environment, including both biotic and abiotic interactions. The intended audience is undergraduate students in the middle or final phases of their programs of study.

675p manmanthanhla0201 26-02-2024 4 1   Download

Ebook "Human nucleotide expansion disorders" represents a comprehensive and up-to-date description of many of the better-studied disorders. The expert authors discuss molecular, clinical and pathological aspects of the diseases as well as our current understanding of their underlying mechanisms. Of special interest are ideas and initial results of the different therapeutic strategies that can be employed to overcome some of the disorders.

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ACAT-related enzyme 2 required for viability 1 (ARV1) encodes a transmembrane lipid transporter of the endoplasmic reticulum, which is presented in all eukaryotes and in plants. Deficiency of ARV1 is clinically presented as autosomal recessive developmental and epileptic encephalopathy 38 (DEE38) in humans and in mice.

5p vitiki 30-01-2024 6 2   Download

Ebook "Human T-lymphotropic viruses: Methods and protocols" detailed volume draws attention to other members of the Retrovirus family, namely the Human T-lymphotropic Viruses (HTLVs), featuring the most updated technical information about HTLV determination and the methods to investigate their interaction with the host immune system and interfering pathogens.

221p lucchinguyen 28-12-2023 6 2   Download

Ebook "Mammary gland development: Methods and protocols" provides key molecular biological protocols and experimental strategies currently employed to study the various stages of mammary gland development. Chapters are divided into four parts covering genetically modified mouse models that exhibit prenatal and pubertal mammary gland phenotypes, 2D and 3D-model culture systems, methodologies for mammary stem cell isolation, and translational applications that provide a bridge between experimental studies of mammary gland development and the study of human breast cancer.

357p lucchinguyen 28-12-2023 7 3   Download