Výsledky vyhľadávania - "Homeostasis/genetics"

Clinical Relevance of ATRX/DAXX Gene Mutations and ALT in Functioning Pancreatic Neuroendocrine Tumors

Autori: Brenna R. van ´t Veld Wenzel M. Hackeng Claudio Luchini a ďalší

Prispievatelia: Brenna R. van ´t Veld Wenzel M. Hackeng Claudio Luchini a ďalší

Zdroj: Endocr Pathol

Predmety: Telomere Homeostasis/genetics, X-linked Nuclear Protein, Clinical Relevance, Co-Repressor Proteins/genetics, Telomere Homeostasis, Adaptor Proteins, Signal Transducing/genetics, Molecular Chaperones/genetics, Review, Neuroendocrine Tumors/genetics, Pancreatic Neoplasms/genetics, Pancreatic Neoplasms, Neuroendocrine Tumors, Mutation, ALT, ATRX, DAXX, Insulinoma, Pancreatic neuroendocrine tumors, Prognostic biomarker, Journal Article, Humans, X-linked Nuclear Protein/genetics, Co-Repressor Proteins, Molecular Chaperones, Adaptor Proteins, Signal Transducing

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39954168
https://dspace.library.uu.nl/handle/1874/460649
https://hdl.handle.net/11562/1154989
https://doi.org/10.1007/s12022-025-09848-1

Clinical Relevance of ATRX/DAXX Gene Mutations and ALT in Functioning Pancreatic Neuroendocrine Tumors

Autori: van T Veld, Brenna R Hackeng, Wenzel M Luchini, Claudio a ďalší

Prispievatelia: van T Veld, Brenna R Hackeng, Wenzel M Luchini, Claudio a ďalší

Predmety: Adaptor Proteins, Signal Transducing/genetics, Clinical Relevance, Co-Repressor Proteins/genetics, Humans, Molecular Chaperones/genetics, Mutation, Neuroendocrine Tumors/genetics, Pancreatic Neoplasms/genetics, Telomere Homeostasis/genetics, X-linked Nuclear Protein/genetics, Journal Article, Review

Popis súboru: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/460649

Dostupnosť: https://dspace.library.uu.nl/handle/1874/460649

The Hippo pathway kinases LATS1 and LATS2 attenuate cellular responses to heavy metals through phosphorylating MTF1.

Autori: Han, Han Nakaoka, Hiroki J Hofmann, Line a ďalší

Zdroj: Nature cell biology. 24(1)

Predmety: Cadmium: metabolism, toxicity, Cell Line, Tumor, DNA-Binding Proteins: metabolism, Gene Expression Regulation: genetics, HEK293 Cells, HeLa Cells, Hippo Signaling Pathway: physiology, Homeostasis: genetics, Humans, Inactivation, Metabolic: physiology, Phosphorylation, Protein Serine-Threonine Kinases: genetics, metabolism, Stress, Physiological: physiology, Transcription Factors: metabolism, Transcription, Genetic: genetics, Tumor Suppressor Proteins: genetics, metabolism, Zinc: metabolism, toxicity

Prístupová URL adresa: https://escholarship.org/uc/item/86g8n13n

Transcriptomic analysis unveils bona fide molecular signatures of microglia under conditions of homeostasis and viral encephalitis

Autori: Mulenge, Felix Gern, Olivia Luise Busker, Lena Mareike a ďalší

Zdroj: J Neuroinflammation
Journal of Neuroinflammation, Vol 21, Iss 1, Pp 1-22 (2024)

Predmety: 0301 basic medicine, 0303 health sciences, Research, Gene Expression Profiling, Mice, Inbred C57BL [MeSH], Microglia/virology [MeSH], Encephalitis, Viral/immunology [MeSH], Animals [MeSH], Encephalitis, Viral/virology [MeSH], Homeostasis/physiology [MeSH], Microglia/metabolism [MeSH], Mice [MeSH], Encephalitis, Viral/genetics [MeSH], Homeostasis/genetics [MeSH], Gene Expression Profiling/methods [MeSH], Transcriptome [MeSH], 3. Good health, Mice, Inbred C57BL, Mice, 03 medical and health sciences, Animals, Homeostasis, Neurology. Diseases of the nervous system, Microglia, Encephalitis, Viral, RC346-429, Transcriptome

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39153993
https://doaj.org/article/42bbe73b5ce7422b97270cafad9590e0
https://repository.publisso.de/resource/frl:6521285

Linking IL-10 signaling with lipid metabolic programs in macrophages: dysregulated ceramide homeostasis drives colitis

Autori: Atreya, Imke Neurath, Markus F.

Zdroj: Signal Transduct Target Ther
Signal Transduction and Targeted Therapy, Vol 9, Iss 1, Pp 1-2 (2024)

Predmety: QH301-705.5, Macrophages, Ceramides, Colitis, Lipid Metabolism, Research Highlight, Interleukin-10, Mice, 692/4020/1503, Ceramides/genetics [MeSH], Interleukin-10/genetics [MeSH], Signal Transduction/genetics [MeSH], Colitis/pathology [MeSH], Humans [MeSH], Macrophages/metabolism [MeSH], Ceramides/metabolism [MeSH], Animals [MeSH], Interleukin-10/metabolism [MeSH], 631/250/256, research-highlight, Macrophages/immunology [MeSH], Mice [MeSH], Colitis/metabolism [MeSH], Homeostasis/genetics [MeSH], Lipid Metabolism/genetics [MeSH], Colitis/genetics [MeSH], Medicine, Animals, Humans, Homeostasis, Biology (General), Signal Transduction

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38851767
https://doaj.org/article/9b7a4414c12c48a99578d0cab4cdf16d
https://repository.publisso.de/resource/frl:6502884

Model integration of circadian- and sleep-wake-driven contributions to rhythmic gene expression reveals distinct regulatory principles.

Autori: Jan, M. Jimenez, S. Hor, C.N. a ďalší

Zdroj: Cell systems, vol. 15, no. 7, pp. 610-627.e8

Predmety: Circadian Rhythm/genetics, Circadian Rhythm/physiology, Animals, Humans, Sleep/genetics, Sleep/physiology, Mice, Wakefulness/physiology, Wakefulness/genetics, Gene Expression Regulation/genetics, Liver/metabolism, Transcriptome/genetics, Sleep Deprivation/genetics, Sleep Deprivation/physiopathology, Male, Homeostasis/genetics, clock genes, constant routine, differential equation models, forced desynchrony, gene regulation, immediate early genes, sleep deprivation, sleep recovery

Popis súboru: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/38986625; info:eu-repo/semantics/altIdentifier/eissn/2405-4720; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_992D59CD81311; https://serval.unil.ch/notice/serval:BIB_992D59CD8131; https://serval.unil.ch/resource/serval:BIB_992D59CD8131.P001/REF.pdf

Dostupnosť: https://serval.unil.ch/notice/serval:BIB_992D59CD8131
https://doi.org/10.1016/j.cels.2024.06.005
https://serval.unil.ch/resource/serval:BIB_992D59CD8131.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_992D59CD81311

The Osteoblast Transcriptome in Developing Zebrafish Reveals Key Roles for Extracellular Matrix Proteins Col10a1a and Fbln1 in Skeletal Development and Homeostasis.

Autori: Raman, Ratish Antony, Mishal Nivelle, Renaud a ďalší

Zdroj: Biomolecules, 14 (2), 139 (2024-01-23)

Predmety: ECM, FGF8, col10a1a, fbln1, gene expression, osteoblast, skeletal development, transcriptome, vertebra, zebrafish, Extracellular Matrix Proteins, Minerals, Collagen Type X, fibulin, Animals, Cell Differentiation, Extracellular Matrix/genetics, Homeostasis/genetics, Minerals/metabolism, Transcriptome/genetics, Extracellular Matrix Proteins/genetics, Extracellular Matrix Proteins/metabolism, Osteoblasts/metabolism, Zebrafish/genetics, Zebrafish/growth & development, Collagen Type X/genetics, Collagen Type X/physiology, Extracellular Matrix, Homeostasis, Osteoblasts

Relation: info:eu-repo/grantAgreement/EC/H2020/766347; https://www.mdpi.com/2218-273X/14/2/139/pdf; urn:issn:2218-273X; https://orbi.uliege.be/handle/2268/318463; info:hdl:2268/318463; info:pmid:38397376

Dostupnosť: https://orbi.uliege.be/handle/2268/318463
https://orbi.uliege.be/bitstream/2268/318463/1/biomolecules-14-00139.pdf
https://doi.org/10.3390/biom14020139

Reliable blood cancer cells' telomere length evaluation by qPCR

Autori: Martina Prochazkova-Carlotti Jean-Philippe Merlio Jacky Ferrer a ďalší

Prispievatelia: Martina Prochazkova-Carlotti Jean-Philippe Merlio Jacky Ferrer a ďalší

Zdroj: Cancer Med
Cancer Medicine, Vol 9, Iss 9, Pp 3153-3162 (2020)

Predmety: 0301 basic medicine, tumor, Skin Neoplasms, Apoptosis, Skin Neoplasms / diagnosis, southern blot, Real-Time Polymerase Chain Reaction, Lymphoma, Large-Cell, Anaplastic / genetics, 03 medical and health sciences, telomere length, Tumor Cells, Cultured, cancer, Humans, Telomere Homeostasis / genetics, Skin Neoplasms / genetics, RC254-282, Schizophrenia / blood, Cancer Biology, Aged, Cell Proliferation, Aged, 80 and over, Leukocytes, Mononuclear / metabolism, Lymphoma, Large-Cell, Anaplastic / diagnosis, Leukocytes, Mononuclear / pathology, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Telomere Homeostasis, Middle Aged, 3. Good health, Real-Time Polymerase Chain Reaction / methods, qPCR, Case-Control Studies, Leukocytes, Mononuclear, Schizophrenia, Lymphoma, Large-Cell, Anaplastic, Schizophrenia / genetics, Schizophrenia / diagnosis

Popis súboru: application/pdf

Prístupová URL adresa: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/cam4.2816
https://pubmed.ncbi.nlm.nih.gov/32142223
https://doaj.org/article/9ded3b0c41f34a3d929b2ad0821724c2
https://onlinelibrary.wiley.com/doi/epdf/10.1002/cam4.2816
https://europepmc.org/article/MED/32142223
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196062
https://www.ncbi.nlm.nih.gov/pubmed/32142223
https://onlinelibrary.wiley.com/doi/full/10.1002/cam4.2816
https://pubmed.ncbi.nlm.nih.gov/32142223/
https://hdl.handle.net/10216/142497

Sexually dimorphic roles for the type 2 diabetes-associatedC2cd4bgene in murine glucose homeostasis

Autori: Nikolay Ninov Zenobia B. Mehta Holger Kramer a ďalší

Prispievatelia: Nikolay Ninov Zenobia B. Mehta Holger Kramer a ďalší

Zdroj: Diabetologia
Diabetologia, vol. 64, no. 4, pp. 850-864

Predmety: Blood Glucose, Male, 0301 basic medicine, Genotype, Endocrinology and Diabetes, Biochimie, biophysique & biologie moléculaire, Glucose homeostasis, Weight Gain, Genome-wide association studies, Article, 1117 Public Health and Health Services, Endocrinology & Metabolism, 03 medical and health sciences, Animals, Biomarkers/blood, Blood Glucose/genetics, Blood Glucose/metabolism, Diabetes Mellitus, Type 2/genetics, Female, Follicle Stimulating Hormone/blood, Homeostasis/genetics, Humans, Insulin/blood, Insulin-Secreting Cells/metabolism, Mice, Inbred C57BL, Mice, Knockout, Nuclear Proteins/genetics, Phenotype, Pituitary Gland/metabolism, Sex Characteristics, Transcription Factors/genetics, Zebrafish/blood, Zebrafish/genetics, Zebrafish Proteins/blood, Zebrafish Proteins/genetics, C2CD4A/B, Follicle-stimulating hormone, Type 2 diabetes, Insulin-Secreting Cells, Homeostasis, Insulin, 0303 health sciences, Science & Technology, Nuclear Proteins, 1103 Clinical Sciences, Life sciences, 3. Good health, [SDV] Life Sciences [q-bio], Diabetes Mellitus, Type 2, Pituitary Gland, Endokrinologi och diabetes, Sciences du vivant, 1114 Paediatrics and Reproductive Medicine, Follicle Stimulating Hormone, Life Sciences & Biomedicine, Biomarkers, Biochemistry, biophysics & molecular biology, Transcription Factors

Popis súboru: application/pdf

Prístupová URL adresa: https://orbi.uliege.be/bitstream/2268/256176/1/2021%20%20neda%20%20Sexually%20dimorphic%20roles%20for%20the%20type%202%20diabetes-associated%20C2cd4b%20gene%20in%20murine%20glucose%20homeostasis.pdf
https://link.springer.com/content/pdf/10.1007/s00125-020-05350-x.pdf
https://pubmed.ncbi.nlm.nih.gov/33492421
https://www.biorxiv.org/content/10.1101/2020.05.18.099200v1
https://www.biorxiv.org/content/10.1101/2020.05.18.099200v1.article-metrics
https://www.biorxiv.org/content/biorxiv/early/2020/05/19/2020.05.18.099200.full.pdf
https://www.scilit.net/article/70b1d1798fff5df530fc903dd36e772e
https://link.springer.com/article/10.1007/s00125-020-05350-x
https://link.springer.com/content/pdf/10.1007/s00125-020-05350-x.pdf
https://orbi.uliege.be/handle/2268/256176
https://www.ncbi.nlm.nih.gov/pubmed/33492421
https://europepmc.org/article/PMC/PMC7829492
http://hdl.handle.net/10044/1/92690
https://hdl.handle.net/2268/256176
https://doi.org/10.1007/s00125-020-05350-x
https://serval.unil.ch/notice/serval:BIB_0C8F018AB6C9
https://serval.unil.ch/resource/serval:BIB_0C8F018AB6C9.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0C8F018AB6C91
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-450003

Metabolic functions of the tumor suppressor p53: Implications in normal physiology, metabolic disorders, and cancer

Autori: Matthieu Lacroix Romain Riscal Giuseppe Arena a ďalší

Zdroj: Mol Metab
Molecular Metabolism, Vol 33, Iss, Pp 2-22 (2020)

Predmety: p53, 0301 basic medicine, Biochemistry, biophysics & molecular biology [F05] [Life sciences], Neoplasms/genetics/metabolism/pathology, Article, Metabolic Diseases/genetics/metabolism/pathology, 03 medical and health sciences, Metabolic Diseases, Neoplasms, Homeostasis, Humans, Biochimie, biophysique & biologie moléculaire [F05] [Sciences du vivant], Internal medicine, Cancer, 0303 health sciences, Energy Metabolism/genetics, Homeostasis/genetics, RC31-1245, 3. Good health, Normal tissue homeostasis, Metabolism, Tumor Suppressor Protein p53/genetics/metabolism, Signal Transduction/genetics, Tumor Suppressor Protein p53, Energy Metabolism, Signal Transduction

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/31685430
https://doaj.org/article/1bc957eb96e94fa4a05df2cde87ad25c
https://www.sciencedirect.com/science/article/abs/pii/S2212877819309214
https://pubmed.ncbi.nlm.nih.gov/31685430/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056927/
https://www.sciencedirect.com/science/article/pii/S2212877819309214
http://orbilu.uni.lu/handle/10993/54775

Alternative lengthening of telomeres is the major telomere maintenance mechanism in astrocytoma with isocitrate dehydrogenase 1 mutation

Autori: Mia Dahl Sørensen Dagmar Beier Anne-Sophie Bouillon a ďalší

Zdroj: J Neurooncol
Ferreira, M S V, Sørensen, M D, Pusch, S, Beier, D, Bouillon, A-S, Kristensen, B W, Brümmendorf, T H, Beier, C P & Beier, F 2020, ' Alternative lengthening of telomeres is the major telomere maintenance mechanism in astrocytoma with isocitrate dehydrogenase 1 mutation ', Journal of Neuro-Oncology, vol. 147, no. 1, pp. 1-14 . https://doi.org/10.1007/s11060-020-03394-y

Predmety: Adult, Male, 0301 basic medicine, X-linked Nuclear Protein, Adolescent, Isocitrate Dehydrogenase/metabolism [MeSH], Aged [MeSH], Telomerase, X-linked Nuclear Protein/genetics [MeSH], Tumor Cells, Cultured [MeSH], Male [MeSH], Single-Cell Analysis [MeSH], Astrocytoma/genetics [MeSH], ATRX, Child [MeSH], Adolescent [MeSH], Female [MeSH], Telomerase/genetics [MeSH], Mutation [MeSH], Brain Neoplasms/genetics [MeSH], Adult [MeSH], Humans [MeSH], Laboratory Investigation, Telomere Homeostasis/genetics [MeSH], Middle Aged [MeSH], Q-FISH, Telomere length, ALT, Young Adult [MeSH], TERT promoter, D2HG, Isocitrate dehydrogenase, Isocitrate Dehydrogenase/genetics [MeSH], Child, Preschool [MeSH], Astrocytoma, Sciences de la santé humaine, Young Adult, 03 medical and health sciences, Tumor Cells, Cultured, Humans, Human health sciences, Child, Aged, 0303 health sciences, Brain Neoplasms, Telomere Homeostasis, Hematology, Middle Aged, Isocitrate Dehydrogenase, Child, Preschool, Mutation, Female, Single-Cell Analysis, Hématologie

Popis súboru: application/pdf

Prístupová URL adresa: https://link.springer.com/content/pdf/10.1007/s11060-020-03394-y.pdf
https://pubmed.ncbi.nlm.nih.gov/31960234
https://portal.findresearcher.sdu.dk/en/publications/alternative-lengthening-of-telomeres-is-the-major-telomere-mainte
https://orbi.uliege.be/handle/2268/246785
https://europepmc.org/article/MED/31960234
https://www.ncbi.nlm.nih.gov/pubmed/31960234
https://link.springer.com/content/pdf/10.1007/s11060-020-03394-y.pdf
https://link.springer.com/article/10.1007/s11060-020-03394-y
https://hdl.handle.net/2268/246785
https://doi.org/10.1007/s11060-020-03394-y
https://portal.findresearcher.sdu.dk/da/publications/e48af045-65c8-4c52-a0ea-bb6fad8ab5a7
https://doi.org/10.1007/s11060-020-03394-y
https://findresearcher.sdu.dk:8443/ws/files/168570301/Ferreira2020_Article_AlternativeLengtheningOfTelome.pdf
https://repository.publisso.de/resource/frl:6470812

Inter and transgenerational impact of H3K4 methylation in neuronal homeostasis

Autori: Abay-Nørgaard, Steffen Tapia, Marta Cecylia Zeijdner, Mandoh a ďalší

Zdroj: Abay-Nørgaard , S , Tapia , M C , Zeijdner , M , Kim , J H , Won , K J , Porse , B & Salcini , A E 2023 , ' Inter and transgenerational impact of H3K4 methylation in neuronal homeostasis ' , Life Science Alliance , vol. 6 , no. 8 . https://doi.org/10.26508/lsa.202301970

Predmety: Animals, Methylation, Caenorhabditis elegans/genetics, Epigenome, Epigenomics, Homeostasis/genetics

Popis súboru: application/pdf

Dostupnosť: https://researchprofiles.ku.dk/da/publications/1c75d28f-8f5d-40ba-b777-d2beff73aa56
https://doi.org/10.26508/lsa.202301970
https://curis.ku.dk/ws/files/362062079/e202301970.full.pdf

Sexually dimorphic roles for the type 2 diabetes-associated C2cd4b gene in murine glucose homeostasis.

Autori: Mousavy Gharavy, S.N. Owen, B.M. Millership, S.J. a ďalší

Predmety: Animals, Biomarkers/blood, Blood Glucose/genetics, Blood Glucose/metabolism, Diabetes Mellitus, Type 2/genetics, Female, Follicle Stimulating Hormone/blood, Genotype, Homeostasis/genetics, Humans, Insulin/blood, Insulin-Secreting Cells/metabolism, Male, Mice, Inbred C57BL, Knockout, Nuclear Proteins/genetics, Phenotype, Pituitary Gland/metabolism, Sex Characteristics, Transcription Factors/genetics, Weight Gain, Zebrafish/blood, Zebrafish/genetics, Zebrafish Proteins/blood, Zebrafish Proteins/genetics, C2CD4A/B, Follicle-stimulating hormone, Genome-wide association studies

Popis súboru: application/pdf

Relation: Diabetologia; https://iris.unil.ch/handle/iris/94334; serval:BIB_0C8F018AB6C9; 000611486300001

Dostupnosť: https://iris.unil.ch/handle/iris/94334
https://doi.org/10.1007/s00125-020-05350-x

A population-based approach to assess the heritability and distribution of renal handling of electrolytes.

Autori: Moulin, F. Ponte, B. Pruijm, M. a ďalší

Predmety: Adult, Cohort Studies, Computational Biology, Electrolytes/blood, Electrolytes/metabolism, Electrolytes/urine, Female, Glomerular Filtration Rate, Homeostasis/genetics, Humans, Kidney/physiopathology, Male, Middle Aged, Pedigree, Phenotype, Renal Elimination/genetics, Software, Switzerland, heritability, population, renal function, urinary phenotypes

Relation: Kidney International; https://iris.unil.ch/handle/iris/83068; serval:BIB_19A74BF47D89; 000415760400031

Dostupnosť: https://iris.unil.ch/handle/iris/83068
https://doi.org/10.1016/j.kint.2017.06.020

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.

Autori: Justice, A.E. Karaderi, T. Highland, H.M. a ďalší

Prispievatelia: Justice, A.E. Karaderi, T. Highland, H.M. a ďalší

Predmety: Animals, Body Fat Distribution/methods, Body Mass Index, Case-Control Studies, Drosophila/genetics, Exome/genetics, Female, Gene Frequency/genetics, Genetic Predisposition to Disease/genetics, Genetic Variation/genetics, Genome-Wide Association Study/methods, Homeostasis/genetics, Humans, Lipids/genetics, Male, Proteins/genetics, Risk Factors, Waist-Hip Ratio/methods

Popis súboru: application/pdf

Relation: Nature Genetics; https://iris.unil.ch/handle/iris/74577; serval:BIB_3FE73F14651D; 000459947200014

Dostupnosť: https://iris.unil.ch/handle/iris/74577
https://doi.org/10.1038/s41588-018-0334-2

β-Cell-Specific E2f1 Deficiency Impairs Glucose Homeostasis, β-Cell Identity, and Insulin Secretion.

Autori: Oger, F. Bourouh, C. Friano, M.E. a ďalší

Predmety: Animals, Humans, Mice, Chromatin/metabolism, Diabetes Mellitus, Type 2/genetics, Type 2/metabolism, Glucose/metabolism, Histones/metabolism, Homeostasis/genetics, Insulin/metabolism, Insulin Secretion, Insulin-Secreting Cells/metabolism, Knockout

Relation: Diabetes; https://iris.unil.ch/handle/iris/65621; serval:BIB_2F2100785D5D; 001048673300010

Dostupnosť: https://iris.unil.ch/handle/iris/65621
https://doi.org/10.2337/db22-0604

CARMEN, a human super enhancer-associated long noncoding RNA controlling cardiac specification, differentiation and homeostasis

Autori: Ounzain, S. Micheletti, R. Arnan, C. a ďalší

Predmety: Body Patterning/genetics, Cell Differentiation/genetics, Cell Lineage/genetics, Enhancer Elements, Genetic/genetics, Heart/embryology, Homeostasis/genetics, Myocardium/pathology, Polycomb Repressive Complex 2/metabolism, RNA, Long Noncoding/genetics, Long Noncoding/metabolism, Stem Cells/cytology, Transcriptome/genetics

Popis súboru: application/pdf

Relation: Journal of Molecular and Cellular Cardiology; https://iris.unil.ch/handle/iris/59964; serval:BIB_313C4A6D486A; 000367212800013

Dostupnosť: https://iris.unil.ch/handle/iris/59964
https://doi.org/10.1016/j.yjmcc.2015.09.016

The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.

Autori: Giannuzzi, G. Schmidt, P.J. Porcu, E. a ďalší

Prispievatelia: Giannuzzi, G. Schmidt, P.J. Porcu, E. a ďalší

Predmety: Anemia/genetics, Animals, Autistic Disorder/genetics, Chromosome Deletion, Chromosome Disorders/genetics, Chromosome Duplication/genetics, Chromosomes, Human, Pair 16/genetics, DNA Copy Number Variations/genetics, Female, Genotype, Heterozygote, Homeostasis/genetics, Humans, Iron, Male, Phenotype, Proteins/genetics, 16p11.2 copy number variants, BOLA2, gene duplication, human evolution, human-specific segmental duplications, iron deficiency anemia

Relation: American Journal of Human Genetics; https://iris.unil.ch/handle/iris/267067; serval:BIB_4E12AE891247; 000495878800006

Dostupnosť: https://iris.unil.ch/handle/iris/267067
https://doi.org/10.1016/j.ajhg.2019.09.023

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.

Autori: Nuttle, X. Giannuzzi, G. Duyzend, M.H. a ďalší

Predmety: Animals, Autistic Disorder/genetics, Chromosome Breakage, Chromosomes, Human, Pair 16/genetics, DNA Copy Number Variations/genetics, Evolution, Molecular, Gene Duplication, Genetic Predisposition to Disease, Homeostasis/genetics, Humans, Iron/metabolism, Pan troglodytes/genetics, Pongo/genetics, Proteins/analysis, Proteins/genetics, Recombination, Genetic, Species Specificity, Time Factors

Popis súboru: application/pdf

Relation: Nature; https://iris.unil.ch/handle/iris/223507; serval:BIB_CFCA0FE3B0E4; 000381472100035

Dostupnosť: https://iris.unil.ch/handle/iris/223507
https://doi.org/10.1038/nature19075

MicroRNA-dependent regulation of biomechanical genes establishes tissue stiffness homeostasis

Autori: Venkatesh Mallikarjun Martin A. Schwartz William Armero a ďalší

Zdroj: Nat Cell Biol
Nature cell biology, 21 (3
Schwartz, M, Moro, A, Driscoll, T, Amero, W, Borass, L, Kaspar, D, Baeyens, N, Jouy, C, Mallikarjun, V, Swift, J, Ahn, S J, Lee, D, Zhang, J, Gu, M, Gerstein, M & Nicoli, S 2019, 'microRNA-dependent regulation of biomechanical genes establishes tissue stiffness homeostasis', Nature Cell Biology, vol. 21, no. 3, NCB-N34535E, pp. 348-358. https://doi.org/10.1038/s41556-019-0272-y
Nature cell biology, vol 21, iss 3

Predmety: RNA, Messenger/genetics, Extracellular Matrix Proteins -- genetics -- metabolism, 0301 basic medicine, Cells, Messenger, Fibroblasts -- metabolism, Animal Fins/metabolism, Endothelial Cells/metabolism, Extracellular Matrix Proteins/genetics, Inbred C57BL, Medical and Health Sciences, Article, Zebrafish/genetics, Cell Line, RNA, Messenger -- genetics -- metabolism, Mice, 03 medical and health sciences, Animals, Homeostasis, Humans, Messenger -- genetics -- metabolism, RNA, Messenger, 3' Untranslated Regions, Cells, Cultured, Zebrafish, Homeostasis -- genetics, Fibroblasts/metabolism, Extracellular Matrix Proteins, 0303 health sciences, Cultured, Zebrafish -- genetics -- metabolism, Endothelial Cells, Biological Sciences, Sciences bio-médicales et agricoles, Fibroblasts, Homeostasis/genetics, Mice, Inbred C57BL, MicroRNAs/genetics, MicroRNAs, MicroRNAs -- genetics -- metabolism, Gene Expression Regulation, Biochemistry and cell biology, Animal Fins, Animal Fins -- metabolism, RNA, Messenger/genetics, Developmental Biology, Endothelial Cells -- metabolism

Popis súboru: 2 full-text file(s): application/pdf; application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Prístupová URL adresa: https://europepmc.org/articles/pmc6528464?pdf=render
https://www.biorxiv.org/content/biorxiv/early/2018/07/03/359521.full.pdf
https://pubmed.ncbi.nlm.nih.gov/30742093
http://europepmc.org/abstract/PPR/PPR7754
https://www.nature.com/articles/s41556-019-0272-y
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6528464/
https://www.nature.com/articles/s41556-019-0272-y.pdf
https://difusion.ulb.ac.be/vufind/Record/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/303538/Details
https://www.research.manchester.ac.uk/portal/en/publications/micrornadependent-regulation-of-biomechanical-genes-establishes-tissue-stiffness-homeostasis(e8cada10-d7af-4db7-abdb-e9f3665dd342).html
https://www.biorxiv.org/content/10.1101/359521v1
https://www.biorxiv.org/content/early/2018/07/03/359521
https://www.biorxiv.org/content/early/2018/07/03/359521.full.pdf
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/303538
https://escholarship.org/uc/item/0hm675mn