Transcriptional Regulation and Its Misregulation in Human Diseases
Casamassimi, Amelia
Transcriptional Regulation and Its Misregulation in Human Diseases - Basel MDPI - Multidisciplinary Digital Publishing Institute 2023 - 1 electronic resource (308 p.)
Open Access
Transcriptional regulation is a critical biological process that allows the cell or an organism to respond to a variety of intra- and extracellular signals, to define cell identity during development, to maintain it throughout its lifetime, and to coordinate cellular activity. This control involves multiple temporal and functional steps as well as innumerable molecules including transcription factors, cofactors, and chromatin regulators. It is well known that many human disorders are characterized by global transcriptional dysregulation because most of the signaling pathways ultimately target transcription machinery. Indeed, many syndromes and genetic and complex diseases—cancer, autoimmunity, neurological and developmental disorders, and metabolic and cardiovascular diseases—can be caused by mutations/alterations in regulatory sequences, transcription factors, splicing regulators, cofactors, chromatin regulators, ncRNAs, and other components of transcription apparatus. It is worth noting that advances in our understanding of molecules and mechanisms involved in the transcriptional circuitry and apparatus lead to new insights into the pathogenetic mechanisms of various human diseases and disorders. Thus, this Special Issue is focused on molecular genetics and genomics studies exploring the effects of transcriptional misregulation on human diseases.
Creative Commons
English
books978-3-0365-7736-4 9783036577371 9783036577364
10.3390/books978-3-0365-7736-4 doi
Research & information: general
Biology, life sciences
parallel reporter assay rs684232 FOXA1 VPS53 FAM57A GEMIN4 metabolically healthy obesity epigenetic biomarkers metabolic syndrome DNA methylation adult-onset asthma building dampness and molds endotypes environmental intolerance transcriptomics pathobiological mechanisms SNAI1 metastasis post-translational modifications epigenetic EMT FOXP3 ATF3 post-translational modification transcriptional activity HOX-code NKL-code TALE-code TBX-code chimeric RNAs Fusion RNAs encoding protein fusion transcript linc-223 miR-223 host gene trans-splicing alternative splicing CCL1 myeloid cell differentiation C-type lectin chronic myeloid leukemia anthrax Bacillus anthracis 16S rRNA detection identification real-time PCR RT-PCR NRF3 protein homeostasis lipid homeostasis proteasome translation GGPP macropinocytosis cancer obesity brown adipose tissue transcriptome cold exposure aging HCC-specific small functional protein NONHSAT013026.2/Linc013026-68AA fine tuner of cancer formation dark proteome hepatocellular carcinoma hair cells adult cochlea regeneration transcription factor bioinformatics cheA flhDC GlmY Proteus mirabilis QseEF rcsB swarming HIF-1α YY1 ALL XDP retrotransposon SVA splicing epigenetics transcription homeodomain PBX1 mRNA export TREX TREX-2 NPC lifespan neurodegenerative diseases endogenous retroviruses (ERVs) transcriptional regulation n/a
Transcriptional Regulation and Its Misregulation in Human Diseases - Basel MDPI - Multidisciplinary Digital Publishing Institute 2023 - 1 electronic resource (308 p.)
Open Access
Transcriptional regulation is a critical biological process that allows the cell or an organism to respond to a variety of intra- and extracellular signals, to define cell identity during development, to maintain it throughout its lifetime, and to coordinate cellular activity. This control involves multiple temporal and functional steps as well as innumerable molecules including transcription factors, cofactors, and chromatin regulators. It is well known that many human disorders are characterized by global transcriptional dysregulation because most of the signaling pathways ultimately target transcription machinery. Indeed, many syndromes and genetic and complex diseases—cancer, autoimmunity, neurological and developmental disorders, and metabolic and cardiovascular diseases—can be caused by mutations/alterations in regulatory sequences, transcription factors, splicing regulators, cofactors, chromatin regulators, ncRNAs, and other components of transcription apparatus. It is worth noting that advances in our understanding of molecules and mechanisms involved in the transcriptional circuitry and apparatus lead to new insights into the pathogenetic mechanisms of various human diseases and disorders. Thus, this Special Issue is focused on molecular genetics and genomics studies exploring the effects of transcriptional misregulation on human diseases.
Creative Commons
English
books978-3-0365-7736-4 9783036577371 9783036577364
10.3390/books978-3-0365-7736-4 doi
Research & information: general
Biology, life sciences
parallel reporter assay rs684232 FOXA1 VPS53 FAM57A GEMIN4 metabolically healthy obesity epigenetic biomarkers metabolic syndrome DNA methylation adult-onset asthma building dampness and molds endotypes environmental intolerance transcriptomics pathobiological mechanisms SNAI1 metastasis post-translational modifications epigenetic EMT FOXP3 ATF3 post-translational modification transcriptional activity HOX-code NKL-code TALE-code TBX-code chimeric RNAs Fusion RNAs encoding protein fusion transcript linc-223 miR-223 host gene trans-splicing alternative splicing CCL1 myeloid cell differentiation C-type lectin chronic myeloid leukemia anthrax Bacillus anthracis 16S rRNA detection identification real-time PCR RT-PCR NRF3 protein homeostasis lipid homeostasis proteasome translation GGPP macropinocytosis cancer obesity brown adipose tissue transcriptome cold exposure aging HCC-specific small functional protein NONHSAT013026.2/Linc013026-68AA fine tuner of cancer formation dark proteome hepatocellular carcinoma hair cells adult cochlea regeneration transcription factor bioinformatics cheA flhDC GlmY Proteus mirabilis QseEF rcsB swarming HIF-1α YY1 ALL XDP retrotransposon SVA splicing epigenetics transcription homeodomain PBX1 mRNA export TREX TREX-2 NPC lifespan neurodegenerative diseases endogenous retroviruses (ERVs) transcriptional regulation n/a