Xeroderma Pigmentosum Group C Deficiency Alters Cigarette Smoke DNA Damage Cell Fate and Accelerates Emphysema Development [PDF]
, 2018 Cigarette smoke (CS) exposure is a major risk factor for the development of emphysema, a common disease characterized by loss of cells comprising the lung parenchyma.
Fisher, Amanda J. +8 more
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Indian Journal of Dermatology, 2002 A case of typical xeroderma pigmentosum with pre-malignant and malignant tumours is being reported. The patient, a 13 year old male had presented with progressive freckling, dryness and hypo pigmented atrophic lesions on the body, especially the exposed ...
Dogra Alka +2 more
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Indian journal of dermatology, venereology and leprologyLucero R, Horowitz D.
europepmc +2 more sources
Ocular Surface Squamous Neoplasia in Xeroderma Pigmentosum [PDF]
, 2013 Xeroderma pigmentosum (XP) is a rare genetic disorder associated with multiple oculocutaneous and neurological manifestations. It occurs due to deficiency of the enzymes responsible for repairing ultraviolet radiation-induced DNA damage.
Ajay R Kamath +5 more
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Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation [PDF]
, 2017 Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and ...
Alicia María Cock-Rada +2 more
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Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient [PDF]
, 2017 The human XPG (ERCC5) gene encodes a large acidic protein that corrects the ultraviolet light sensitivity of cells from both xeroderma pigmentosum complementation group G and rodent ERCC group 5.
Clarkson, Stuart G., Nouspikel, Thierry
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UV-Induced Ubiquitylation of XPC Protein Mediated by UV-DDB-Ubiquitin Ligase Complex [PDF]
, 2005 SummaryThe xeroderma pigmentosum group C (XPC) protein complex plays a key role in recognizing DNA damage throughout the genome for mammalian nucleotide excision repair (NER). Ultraviolet light (UV)-damaged DNA binding protein (UV-DDB) is another complex
Chu, Gilbert +10 more
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Ultraviolet-Induced Dna Repair Synthesis In Lymphocytes From Patients With Actinic Keratosis [PDF]
, 1976 Actinic keratosis is an epidermal cancer in situ. Extensive exposure to sunlight is considered as a contributing factor to the etiology of this tumor.
Lambert, Bo +2 more
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Zur Histologie der Melanosis lenticularis progressiva. (Xeroderma pigmentosum.) [PDF]
, 1905 Viktor Bandler
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Neurogenic bladder associated with xeroderma pigmentosum type A: A case report and literature review
Urology Case Reports, 2019 Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by a defect in deoxyribonucleic acid repair. Along with cutaneous symptoms, neurological symptoms are important clinical features of XP.
Katsuki Tsuchiyama +4 more
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