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Pathway perturbations in signaling networks: Linking genotype to phenotype.

08:00 EDT 5th May 2018 | BioPortfolio

Summary of "Pathway perturbations in signaling networks: Linking genotype to phenotype."

Genes and gene products interact with each other to form signal transduction networks in the cell. The interactome networks are under intricate regulation in physiological conditions, but could go awry upon genome instability caused by genetic mutations. In the past decade with next-generation sequencing technologies, an increasing number of genomic mutations have been identified in a variety of disease patients and healthy individuals. As functional and systematic studies on these mutations leap forward, they begin to reveal insights into cellular homeostasis and disease mechanisms. In this review, we discuss recent advances in the field of network biology and signaling pathway perturbations upon genomic changes, and highlight the success of various omics datasets in unraveling genotype-to-phenotype relationships.

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This article was published in the following journal.

Name: Seminars in cell & developmental biology
ISSN: 1096-3634
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Medical and Biotech [MESH] Definitions

A complex signaling pathway whose name is derived from the DROSOPHILA Wg gene, which when mutated results in the wingless phenotype, and the vertebrate INT gene, which is located near integration sites of MOUSE MAMMARY TUMOR VIRUS. The signaling pathway is initiated by the binding of WNT PROTEINS to cells surface WNT RECEPTORS which interact with the AXIN SIGNALING COMPLEX and an array of second messengers that influence the actions of BETA CATENIN.

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

The totality of characteristics of reproductive structure, functions, PHENOTYPE, and GENOTYPE, differentiating the MALE from the FEMALE organism.

A state of intersex or sexual ambiguity, involving the GENOTYPE, the GONADS, the reproductive tract, and/or the external GENITALIA or PHENOTYPE. This concept covers TRUE HERMAPHRODITISM and PSEUDOHERMAPHRODITISM. True hermaphrodites are rare and they possess gonadal tissues of both sexes, tissues from the OVARY and the TESTIS. Pseudohermaphrodites possess gonadal tissue of one sex but exhibit external phenotype of the opposite sex.

A sub-family of smad proteins that inhibit cell signaling by RECEPTOR-REGULATED SMAD PROTEINS. They form autoinhibitory feedback loops in the TGF-BETA signaling pathway and mediate signaling cross-talk with other signaling pathways

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