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About 400 results

ALLMedicine™ Cockayne Syndrome Center

Research & Reviews  156 results

Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
https://clinicaltrials.gov/ct2/show/NCT00001813

May 20th, 2022 - Three rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD) have defective DNA excision repair although only XP has increased cancer susceptibility. We plan to perform careful clinical examination...

Camptothecin compromises transcription recovery and cell survival against cisplatin and...
https://doi.org/10.1016/j.dnarep.2022.103318
DNA Repair; Sakasai R, Wakasugi M et. al.

Mar 25th, 2022 - DNA-damaging anti-cancer drugs are used clinically to induce cell death by causing DNA strand breaks or DNA replication stress. Camptothecin (CPT) and cisplatin are commonly used anti-cancer drugs, and their combined use enhances the anti-tumour e...

The UVSSA protein is part of a genome integrity homeostasis network with links to trans...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8931232
Proceedings of the National Academy of Sciences of the Un... Kordon MM, Arron S et. al.

Mar 8th, 2022 - SignificanceTranscription-coupled repair (TCR) involves four core proteins: CSA, CSB, USP7, and UVSSA. CSA and CSB are mutated in the severe human neurocutaneous disease Cockayne syndrome. In contrast UVSSA is a mild photosensitive disease in whic...

Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8898519
Orphanet Journal of Rare Diseases; Chikhaoui A, Kraoua I et. al.

Mar 7th, 2022 - Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in ERCC6/CSB or ERCC8/CSA that participate in the transcription-coupled nucleotide excision repair (TC-NER) of UV-induced DNA damage. CS patients display a large het...

Aldehyde-driven transcriptional stress triggers an anorexic DNA damage response.
https://doi.org/10.1038/s41586-021-04133-7
Nature Mulderrig L, Garaycoechea JI et. al.

Nov 26th, 2021 - Endogenous DNA damage can perturb transcription, triggering a multifaceted cellular response that repairs the damage, degrades RNA polymerase II and shuts down global transcription1-4. This response is absent in the human disease Cockayne syndrome...

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Drugs  1 results see all →

Clinicaltrials.gov  2 results

Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
https://clinicaltrials.gov/ct2/show/NCT00001813

May 20th, 2022 - Three rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD) have defective DNA excision repair although only XP has increased cancer susceptibility. We plan to perform careful clinical examination...

Pharmacokinetics and Safety Study of Single and Multiple Oral Doses Prodarsan™ in Patients With Cockayne Syndrome
https://clinicaltrials.gov/ct2/show/NCT01142154

Jun 23rd, 2011 - This study is to compare the exposure of orally administered Prodarsan to the intravenous dosed Osmitrol (10% solution) in Cockayne Syndrome (CS) patients. Also the pharmacokinetics of single and multiple orally dosed Prodarsan will be evaluated a...

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News  1 results

NHS England Boss Knighted in New Year Honours
https://www.medscape.com/viewarticle/923186

Dec 28th, 2019 - Simon Stevens, head of NHS England becomes a Sir, leading this year's healthcare field in the 2020 New Year Honours List. The recipients in healthcare are alongside stars of sport, entertainment, public service, politics, charity work, and "the ou...

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