Translesion synthesis in mammalian cells [PDF]
DNA damage blocks the progression of the replication fork. In order to circumvent the damaged bases, cells employ specialized low stringency DNA polymerases, which are able to carry out translesion synthesis (TLS) past different types of damage. The five
Alan R. Lehmann+35 more
core +2 more sources
Basal Cell Carcinoma in Cases with or without Xeroderma Pigmentosum
Introduction: Basal cell carcinoma is the most common form of cancer in humans and comprises the vast majority of skin cancers. It predominantly affects fair-skinned individuals, and its incidence is rapidly increasing.
Dilasma Ghartimagar+5 more
doaj +1 more source
TGF-β signaling links E-cadherin loss to suppression of nucleotide excision repair. [PDF]
E-cadherin is a cell adhesion molecule best known for its function in suppressing tumor progression and metastasis. Here we show that E-cadherin promotes nucleotide excision repair through positively regulating the expression of xeroderma pigmentosum ...
Barcellos-Hoff, MH+3 more
core +1 more source
Xeroderma pigmentosum with ocular involvement and squamous cell carcinoma: A case report
Xeroderma Pigmentosum is a rare, autosomal recessive genetic disorder, characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation and carcinogenic agents.
Bernadya Yogatri Anjuwita Saputri+1 more
doaj +1 more source
DNA strand break repair and neurodegeneration. [PDF]
A number of DNA repair disorders are known to cause neurological problems. These disorders can be broadly characterised into early developmental, mid-to-late developmental or progressive.
Abraham+157 more
core +1 more source
Structural basis of TFIIH activation for nucleotide excision repair. [PDF]
Nucleotide excision repair (NER) is the major DNA repair pathway that removes UV-induced and bulky DNA lesions. There is currently no structure of NER intermediates, which form around the large multisubunit transcription factor IIH (TFIIH).
Chernev, A.+5 more
core +2 more sources
Xeroderma Pigmentosum: a case report with oral implications [PDF]
Xeroderma Pigmentosum is a rare autosomal recessive genetic disorder characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation and carcinogenic agents.
Antônio Barreto, Jaison+5 more
core +1 more source
Shining a Light on Xeroderma Pigmentosum [PDF]
Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder of DNA repair characterized by sun sensitivity and UV radiation-induced skin and mucous membrane cancers. Initially described in 1874 by Moriz Kaposi in Vienna, nearly 100 years later, James Cleaver in San Francisco reported defective DNA repair in XP cells. This eventually provided the
John J. DiGiovanna, Kenneth H. Kraemer
openaire +3 more sources
The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D) [PDF]
BACKGROUND: To investigate the association of DNA nucleotide excision repair (NER) defects with neurological degeneration, cachexia and cancer, we performed autopsies on 4 adult xeroderma pigmentosum (XP) patients with different clinical features and ...
Alimchandani, Meghna+19 more
core +1 more source
Melanoma and Other Skin Cancers in Xeroderma Pigmentosum Patients and Mutation in Their Cells [PDF]
Malignant melanomas were found in 15.8% of xeroderma pigmentosum (XP) patients with skin cancer in Japan. When multiple cancers were scored separately depending on the histopathologic types, 12.1% of the skin cancers in XP patients was malignant melanoma.
Nishigori, Chikako+2 more
core +1 more source