Gene discovery

The primary aim of Cerebral Signal Transduction: From First to Fourth Messengers, therefore, is to offer a comprehensive picture of the recent advances made in the signaling field as it relates to neuronal and cere­ bral function. The current state of progress provides an exciting opportunity for such a comprehensive focus because molecular tools have become available to selectively remove, reduce, or enhance spe­ cific components in the signaling pathways, e. g. , by interfering with the genes encoding key proteins.

441p vimeyers 29-05-2024 3 2   Download

Ebook "Adult stem cells: Biology and methods of analysis" offers readers a historical perspective as well as unique insights into cutting-edge thoughts. The volume contextualizes the recent discovery of stem/progenitor cell populations resident in many adult tissues and organs. It confronts the complexities scientists face in trying to validate these cells, while it also describes and critically evaluates the methods currently used to assess stem cell self-renewal.

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The discovery of synthetic lethal interactions between poly (ADP-ribose) polymerase (PARP) inhibitors and BRCA genes, which are involved in homologous recombination, led to the approval of PARP inhibition as a monotherapy for patients with BRCA1/2-mutated breast or ovarian cancer.

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Wnt signaling is an evolutionarily conserved developmental pathway that is frequently hyperactivated in cancer. While multiple protein-coding genes regulated by Wnt signaling are known, the functional lncRNAs regulated by Wnt signaling have not been systematically characterized.

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Next-generation sequencing (NGS) is now more accessible to clinicians and researchers. As a result, our understanding of the genetics of neurodevelopmental disorders (NDDs) has rapidly advanced over the past few years. NGS has led to the discovery of new NDD genes with an excess of recurrent de novo mutations (DNMs) when compared to controls.

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The rapid expansion of the available genomic data continues to greatly impact biomedical science and medicine. Fulfilling the clinical potential of genetic discoveries requires the development of therapeutics that can specifically modulate the expression of disease-relevant genes.

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Given the rarity of most single-gene Mendelian disorders, concerted efforts of data exchange between clinical and scientific communities are critical to optimize molecular diagnosis and novel disease gene discovery.

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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.

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With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype–phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs.

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Mutational signatures are key to understanding the processes that shape cancer genomes, yet their analysis requires relatively rich whole-genome or whole-exome mutation data. Recently, orders-of-magnitude sparser gene-panelsequencing data have become increasingly available in the clinic.

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Hundreds of thousands of cancer patients have had targeted (panel) tumor sequencing to identify clinically meaningful mutations. In addition to improving patient outcomes, this activity has led to significant discoveries in basic and translational domains.

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Medical digital twins are computational disease models for drug discovery and treatment. Unresolved problems include how to organize and prioritize between disease-associated changes in digital twins, on cellulomeand genome-wide scales. We present a dynamic framework that can be used to model such changes and thereby prioritize upstream regulators (URs) for biomarker- and drug discovery.

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Previous large-scale studies of de novo variants identified a number of genes associated with neurode‑ velopmental disorders (NDDs); however, it was also predicted that many NDD-associated genes await discovery. Such genes can be discovered by integrating copy number variants (CNVs), which have not been fully considered in previous studies, and increasing the sample size.

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In medical genetics, discovery and characterization of disease trait contributory genes and alleles depends on genetic reasoning, study design, and patient ascertainment; we suggest a segmental haploid genetics approach to enhance gene discovery and molecular diagnostics.

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The diagnostic rate of Mendelian disorders in sequencing studies continues to increase, along with the pace of novel disease gene discovery. However, variant interpretation in novel genes not currently associated with disease is particularly challenging and strategies combining gene functional evidence with approaches that evaluate the phenotypic similarities between patients and model organisms have proven successful.

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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.

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Ebook "Modern molecular biology: Approaches for Unbiased discovery in cancer research" is to provide an overview of modern molecular biological approaches to unbiased discovery in cancer research. Advances in molecular biology allowing unbiased analysis of changes in cancer initiation and progression will be overviewed. These include the strategies employed in modern genomics, gene expression analysis, and proteomics.

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Ebook "RAMPs (Advances in experimental medicine and biology, Volume 744)" provides a general introduction to RAMPs including its discovery. The second chapter (by Poyner and colleagues) and the third chapter (by Bomberger and colleagues) are intended to provide in depth discussion on how the different RAMP isoforms can regulate various aspects of receptor signaling especially stimulated with calcitonin gene related peptide (CGRP) and adrenomedullin. In addition, in the third chapter, Bomberger et al discuss the differences in RAMP2 and -3 with regard to their role in receptor trafficking.

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Ebook "Prokaryotic systems biology (Advances in experimental medicine and biology, Volume 883)" focuses on innovative experimental and computational approaches for charting interaction networks in bacterial species.

326p duongthandue0501 28-02-2024 3 1   Download

his was a very exciting and, at the same time, very surprising discovery. It was exciting because if true, it would have marked the detection of the first planet outside of our solar system. It was surprising because the planet-hosting star is the primary of a binary system with a separation less than 19 AU, a distance comparable to the planetary distances in our solar system.

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