Results 61 to 70 of about 22,799 (245)
Über Xeroderma pigmentosum [PDF]
Archiv für Dermatologie und Syphilis, 1910 n ...
openaire +3 more sources
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 +14 more
wiley +1 more source
A Stop Codon in Xeroderma Pigmentosum Group C Families in Turkey and Italy: Molecular Genetic Evidence for a Common Ancestor [PDF]
, 2001 Xeroderma pigmentosum family G from Van, Turkey had two severely affected children: a son with multiple skin cancers who died at age 10 (XP67TMA), and an 8 y old daughter who began developing skin cancer before 3 y of age (XP68TMA).
Busch, David B. +10 more
core +1 more source
Embedding Pharmacogenetics Into Clinical Practice to Improve Patient Outcomes
Annals of Human Genetics, EarlyView.ABSTRACT Pharmacogenomics, the use of germline genomic data to guide prescription to improve effective and safer medication, holds promise as a clinical intervention. To date in most health systems, there has been limited uptake of pharmacogenomic testing confined to a few single drug–gene associations.
John Henry McDermott +3 more
wiley +1 more source
Xeroderma pigmentosum: clues to understanding cancer initiation [PDF]
, 2010 Xeroderma pigmentosum (XP) type C is a rare autosomal recessive disorder that occurs because of inactivation of the xeroderma pigmentosum group C (XPC) protein, which is an important DNA damage recognition protein involved in DNA nucleotide excision ...
Cario-André, Muriel +7 more
core +2 more sources
Neurodegeneration in xeroderma pigmentosum [PDF]
Brain, 2008 The inability to repair damage to DNA clearly can have effects on post-mitotic neurons and cause severe CNS symptoms. Ataxia telangiectasia (A-T), ataxia oculomotor apraxia type 1 (AOA1) and spinocerebellar ataxia with axonal neuropathy (SCAN1) all show progressive neurodegeneration.
openaire +2 more sources
Transcription‐coupled repair: tangled up in convoluted repair
The FEBS Journal, EarlyView.In this review, we discuss recent findings derived from diverse genomic, biochemical and structural, imaging, and functional studies (B–E) that culminated in deep mechanistic insight (A) into the vital cellular process of transcription‐coupled nucleotide excision repair (TC‐NER).
Diana A. Llerena Schiffmacher +3 more
wiley +1 more source
Neurological symptoms and natural course of xeroderma pigmentosum [PDF]
, 2008 We have prospectively followed 16 Finnish xeroderma pigmentosum (XP) patients for up to 23 years. Seven patients were assigned by complementation analysis to the group XP-A, two patients to the XP-C group and one patient to the XP-G group.
Anttinen, Anu +12 more
core +3 more sources
Impact of particulate matter exposure on melanoma risk: A multicentre case–control study
Journal of the European Academy of Dermatology and Venereology, EarlyView.Long‐term exposure to higher levels of PM10 and PM2.5 may have a protective effect against melanoma, potentially due to the reduction in ultraviolet radiation. Abstract Background The relationship between particulate matter (PM) exposure and melanoma risk remains largely unexplored.
Francesco Bellinato +8 more
wiley +1 more source
A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensitvity in a xeroderma pigmentosum patient [PDF]
, 2009 This article has been made available through the Brunel Open Access Publishing Fund.Background: Radiotherapy-induced DNA double strand breaks (DSB) are critical cytotoxic lesions.
Abbaszadeh, F +9 more
core