Results 61 to 70 of about 10,371 (225)

Cockayne Syndrome [PDF]

, 2014
How to Cite This Article: Javadzadeh M. Cockayne Syndrome. Iran J Child Neurol.
JAVADZADEH, Mohsen
core   +2 more sources

Nucleotide excision repair genes shaping embryonic development [PDF]

Open Biology, 2019
Nucleotide excision repair (NER) is a highly conserved mechanism to remove helix-distorting DNA lesions. A major substrate for NER is DNA damage caused by environmental genotoxins, most notably ultraviolet radiation.
Sofia J. Araújo, Isao Kuraoka
doaj   +1 more source

Adverse Effects of Trichothiodystrophy DNA Repair and Transcription Gene Abnormalities on Human Fetal Development [PDF]

, 2009
The effects of DNA repair and transcription genes in human prenatal life have never been studied. Trichothiodystrophy (TTD) is a rare (affected frequency of 10^-6^) recessive disorder caused by mutations in genes involved in the nucleotide excision ...
Amiran Dzutsev, Caroline Signore, James L. Mills, James Troendle, Roxana Moslehi   +4 more
core   +2 more sources

Dietary Restriction Mitigates Vascular Aging, Modulates the cGAS‐STING Pathway and Reverses Macrophage‐Like VSMC Phenotypes in Progeroid DNA‐Repair‐Deficient Ercc1Δ/− Mice

Aging Cell, EarlyView.
Dietary restriction mitigates vascular aging in DNA‐repair‐deficient Ercc1Δ/− mice by reducing extracellular matrix remodeling, inflammation, oxidative stress, and switching of vascular smooth muscle cells to a macrophage‐like phenotype. Our findings suggest that the cGAS‐STING pathway plays a key role in vascular aging and that the benefits of dietary
S. J. M. Stefens, J. van der Linden, J. M. Heredia‐Genestar, R. M. C. Brandt, S. Barnhoorn, I. Nieuwenhuizen‐Bakker, N. van Vliet, J. H. M. Odijk, Y. Ridwan, D. Stuijts, M. Batenburg, J. H. J. Hoeijmakers, R. Kanaar, J. Essers, I. van der Pluijm   +14 more
wiley   +1 more source

Adult diagnosis of Cockayne syndrome [PDF]

Neurology, 2020
In the Video NeuroImage article “Adult diagnosis of Cockayne syndrome” by Cocco et al.,1 the figure title should be “Axial T2-and T1-weighted MRI and axial CT scan” and its legend should read “Axial T2-weighted (A–B) and T1-weighted (C) MRI show white matter abnormalities and brain calcifications.
openaire   +3 more sources

Nicotinamide Riboside Supplementation Benefits in Patients With Werner Syndrome: A Double‐Blind Randomized Crossover Placebo‐Controlled Trial

Aging Cell, EarlyView.
Nicotinamide riboside improved arterial stiffness (cardio–ankle vascular index), reduced skin ulcer area, and showed a trend toward mitigating heel pad thinning in patients with Werner syndrome, with no serious adverse events. Metabolomic analysis revealed a significant decrease in creatinine, suggesting a potential suppression of renal functional ...
Mayumi Shoji, Hisaya Kato, Masaya Koshizaka, Hiyori Kaneko, Yusuke Baba, Takahiro Ishikawa, Naoya Teramoto, Daisuke Kinoshita, Ayano Yamaguchi, Yukari Maeda, Yosuke Inaba, Yuki Shiko, Yoshihito Ozawa, Vilhelm A. Bohr, Yoshiro Maezawa, Koutaro Yokote   +15 more
wiley   +1 more source

Roles of poly(ADP-ribose) polymerase 1 and mitophagy in progeroid syndromes as well as physiological ageing

Exploration of Medicine, 2023
Progeroid syndromes are characterized by clinical signs of premature ageing, which may contain several diseases such as Werner syndrome, Bloom syndrome, Rothmund-Thomson syndrome, Hutchinson-Gilford progeria syndrome, and Cockayne syndrome.
Naoko Suga, Yuka Ikeda, Sayuri Yoshikawa, Satoru Matsuda   +3 more
doaj   +1 more source

Genetics and Dermatology or if I Were to Rewrite Cokcayne'S Inherited Abnormalities of the Skin [PDF]

, 1973
Since 1933 great strides have been made in an understanding of the basic mechanisms in genetic disorders of the skin. Furthermore, study of these disorders has contributed significantly to the understanding of the normal skin and in some instances to the
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core   +1 more source

Insights Into Cockayne Syndrome Type B: What Underlies Its Pathogenesis?

Aging Cell, EarlyView.
Cockayne Syndrome complementation group B (CS‐B) is a highly debilitating progeroid syndrome that often culminates in the death of patients before adulthood. This review explores the pathogenesis of CS‐B and proposes that a combination of DNA damage accumulation, transcriptional dysregulation, and mitochondrial dysfunction is its underlying cause ...
Ricardo Afonso‐Reis, Cristiana R. Madeira, David V. C. Brito, Clévio Nóbrega   +3 more
wiley   +1 more source

Cockayne syndrome in two brothers [PDF]

Jornal de Pediatria, 1995
We report the clinical history of two brothers with the classical Cockayne syndrome. The main manifestations consisted of cachectic dwarfism, mental retardation, intracranial calcifications, microcephaly, enophthalmos, senile appearance, joint hypomotility and skin photosensitivity.
de Mello Rj, Medeiros Js, de Carvalho Mw, da Silva Eo, Fittipaldi Jr H   +4 more
openaire   +3 more sources