Works matching DE "COCKAYNE syndrome"
Results: 101
Síndrome Cockayne, presentación de caso.
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- Revista de Ciencias Médicas de Pinar del Río, 2022, v. 26, n. 2, p. 1
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- Article
Mutations in Cockayne Syndrome-Associated Genes (Csa and Csb) Predispose to Cisplatin-Induced Hearing Loss in Mice.
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- Journal of Neuroscience, 2016, v. 36, n. 17, p. 4758, doi. 10.1523/JNEUROSCI.3890-15.2016
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- Article
Cockayne Syndrome Group B (Csb) and Group A (Csa) Deficiencies Predispose to Hearing Loss and Cochlear Hair Cell Degeneration in Mice.
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- Journal of Neuroscience, 2015, v. 35, n. 10, p. 4280, doi. 10.1523/JNEUROSCI.5063-14.2015
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- Article
Cockayne syndrome group B protein promotes mitochondrial DNA stability by supporting the DNA repair association with the mitochondrial membrane.
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- FASEB Journal, 2010, v. 24, n. 7, p. 2334, doi. 10.1096/fj.09-147991
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- Article
Pioglitazone Improves Fat Tissue Distribution and Hyperglycemia in a Case of Cockayne Syndrome With Diabetes.
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- Diabetes Care, 2015, v. 38, n. 5, p. e76, doi. 10.2337/dc14-2944
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- Article
Wiedemann-Rautenstauch Syndrome.
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- Indian Pediatrics, 2011, v. 48, n. 9, p. 731
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- Article
Lower Bounds on the Number of Monochromatic Matchings in $$K_{2s+t-1}$$.
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- Graphs & Combinatorics, 2017, v. 33, n. 5, p. 1147, doi. 10.1007/s00373-017-1829-9
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- Article
Analysis of repair and PCNA complex formation induced by ionizing radiation in human fibroblast cell lines.
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- Mutagenesis, 2001, v. 16, n. 3, p. 225, doi. 10.1093/mutage/16.3.225
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- Article
Nucleotide excision repair--initiating proteins bind to oxidative DNA lesions in viva.
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- Journal of Cell Biology, 2012, v. 199, n. 7, p. 1037, doi. 10.1083/jcb.201205149
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- Article
Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-57999-4
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- Article
Premature aging in genetic diseases:what conclusions can be drawn for physiological aging.
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- Frontiers in Aging Neuroscience, 2024, p. 01, doi. 10.3389/fragi.2023.1327833
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- Article
Editorial: DNA repair and interventions in aging.
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- Frontiers in Aging Neuroscience, 2023, p. 1, doi. 10.3389/fragi.2023.1306463
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- Article
Cockayne syndrome with intracranial calcification, hypomyelination, and cerebral atrophy.
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- Journal of Neurosciences in Rural Practice, 2017, v. 8, n. 1, p. 120, doi. 10.4103/0976-3147.185511
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- Article
A Rare Case of Cockayne Syndrome-MRI Features.
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- 2012
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- Case Study
Síndrome de Cockayne: informe de dos casos clínicos y revisión de la literatura.
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- Iatreia, 2011, v. 24, n. 4, p. 415
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- Article
Renal Involvement in 2 Siblings With Cockayne Syndrome.
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- 2017
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- journal article
Renal Involvement in 2 Siblings With Cockayne Syndrome.
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- 2017
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- Case Study
Atypical progeroid syndrome due to heterozygous missense LMNA mutations.
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- 2009
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- journal article
Elevated Urinary Levels of 8-Hydroxy-2′-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome.
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- Tohoku Journal of Experimental Medicine, 2016, v. 239, n. 3, p. 231, doi. 10.1620/tjem.239.231
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Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.
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- 2009
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- journal article
Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00111
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- Article
Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS.
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- Journal of Human Genetics, 2015, v. 60, n. 5, p. 259, doi. 10.1038/jhg.2015.18
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- Article
Regulation of active genome integrity and expression by Rad26p.
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- Nucleus (1949-1034), 2014, v. 5, n. 6, p. 520, doi. 10.4161/nucl.36230
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- Article
Síndrome de Cockayne: relato de dois casos.
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- Scientia Medica, 2012, v. 22, n. 4, p. 211
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Identification of one Novel complex delins mutation and one recurrent mutation of ERCC8 gene in a Chinese family with Cockayne Syndrome A.
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- Journal of the European Academy of Dermatology & Venereology, 2017, v. 31, n. 9, p. e394, doi. 10.1111/jdv.14201
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- Article
Differentiation Driven Changes in the Dynamic Organization of Basal Transcription Initiation.
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- PLoS Biology, 2009, v. 7, n. 10, p. 1, doi. 10.1371/journal.pbio.1000220
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- Article
Demyelinating prenatal and infantile developmental neuropathies.
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- Journal of the Peripheral Nervous System, 2012, v. 17, n. 1, p. 32, doi. 10.1111/j.1529-8027.2012.00379.x
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- Article
Anesthetic Management of a Child with Cerebro-Oculo-Facio-Skeletal Syndrome.
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- 2019
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- Case Study
Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis.
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- Pediatrics International, 2015, v. 57, n. 3, p. 339, doi. 10.1111/ped.12635
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- Article
Syndromes and Genetics.
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- 2021
- Publication type:
- Abstract
Identification of Novel Proteins Co-Purifying with Cockayne Syndrome Group B (CSB) Reveals Potential Roles for CSB in RNA Metabolism and Chromatin Dynamics.
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- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0128558
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- Article
Identification of Two Missense Mutations of ERCC6 in Three Chinese Sisters with Cockayne Syndrome by Whole Exome Sequencing.
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- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0113914
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- Article
Procedural Sedation for Children with Cockayne Syndrome: Caveats and Concerns.
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- Journal of Pediatric Neurosciences, 2023, v. 18, p. 89, doi. 10.4103/jpn.JPN_96_21
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- Article
TRiC controls transcription resumption after UV damage by regulating Cockayne syndrome protein A.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-03484-6
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- Article
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal‐onset Cockayne syndrome features.
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- Clinical Genetics, 2018, v. 94, n. 3/4, p. 386, doi. 10.1111/cge.13364
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- Article
Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit.
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- Clinical Genetics, 2015, v. 87, n. 1, p. 56, doi. 10.1111/cge.12325
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- Article
ERCC6 founder mutation identified in Finnish patients with COFS syndrome Jaakkola et al.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 541, doi. 10.1111/j.1399-0004.2010.01424.x
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Xeroderma pigmentosum with significant periodontal findings: a rare clinical report.
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- 2008
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- Case Study
DNA Repair Dysfunction and Neurodegeneration.
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- Journal of Child Neurology, 2016, v. 31, n. 3, p. 392, doi. 10.1177/0883073815592221
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Detecting UV-lesions in the genome: The modular CRL4 ubiquitin ligase does it best!
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- FEBS Letters, 2011, v. 585, n. 18, p. 2818, doi. 10.1016/j.febslet.2011.04.064
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- Article
Loss of a DNA binding site within the tail of prelamin A contributes to altered heterochromatin anchorage by progerin
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- FEBS Letters, 2010, v. 584, n. 14, p. 2999, doi. 10.1016/j.febslet.2010.05.032
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- Article
Extracellular Recombinant Annexin II Confers UVC-Radiation Resistance and Increases the Bcl-xL to Bax Protein Ratios in Human UVC-Radiation-Sensitive Cells.
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- Radiation Research, 2011, v. 176, n. 6, p. 732, doi. 10.1667/RR2561.1
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- Article
Cell-Autonomous Progeroid Changes in Conditional Mouse Models for Repair Endonuclease XPG Deficiency.
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- PLoS Genetics, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pgen.1004686
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- Article
The Sequence-Specific Transcription Factor c-Jun Targets Cockayne Syndrome Protein B to Regulate Transcription and Chromatin Structure.
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- PLoS Genetics, 2014, v. 10, n. 4, p. 1, doi. 10.1371/journal.pgen.1004284
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- Article
ATP-Dependent Chromatin Remodeling by Cockayne Syndrome Protein B and NAP1-Like Histone Chaperones Is Required for Efficient Transcription-Coupled DNA Repair.
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- PLoS Genetics, 2013, v. 9, n. 4, p. 1, doi. 10.1371/journal.pgen.1003407
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- Article
Age-Related Neuronal Degeneration: Complementary Roles of Nucleotide Excision Repair and Transcription- Coupled Repair in Preventing Neuropathology.
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- PLoS Genetics, 2011, v. 7, n. 12, p. 1, doi. 10.1371/journal.pgen.1002405
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- Article
p8/TTDA Overexpression Enhances UV-Irradiation Resistance and Suppresses TFIIH Mutations in a Drosophila Trichothiodystrophy Model.
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- PLoS Genetics, 2008, v. 4, n. 11, p. 1, doi. 10.1371/journal.pgen.1000253
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Understanding nucleotide excision repair and its roles in cancer and ageing.
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- Nature Reviews Molecular Cell Biology, 2014, v. 15, n. 7, p. 465, doi. 10.1038/nrm3822
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Overexpression of p53 but not Rb in the cytoplasm of neurons and small vessels in an autopsy of a patient with Cockayne syndrome.
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- Neuropathology, 2015, v. 35, n. 3, p. 266, doi. 10.1111/neup.12183
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Accumulation of phosphorylated TDP-43 in the CNS of a patient with Cockayne syndrome.
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- Neuropathology, 2013, v. 33, n. 6, p. 673, doi. 10.1111/neup.12038
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- Article