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About 1,183 results

ALLMedicine™ Xeroderma Pigmentosum Center

Research & Reviews  436 results

Overview of familial syndromes with increased skin malignancies.
https://doi.org/10.1007/s00403-022-02447-8
Archives of Dermatological Research; Juan HY, Zhou AE et. al.

Nov 8th, 2022 - The vast majority of skin cancers can be classified into two main types: melanoma and keratinocyte carcinomas. The most common keratinocyte carcinomas include basal cell carcinoma (BCC) and squamous cell carcinoma (SCC). Multiple familial syndrome...

Identification of novel mutations and reassignment of archival xeroderma pigmentosum gr...
https://doi.org/10.1111/1346-8138.16623
The Journal of Dermatology; Kobayashi H, Pozo FM et. al.

Nov 8th, 2022 - Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients.|2022|Kobayashi H,Pozo FM,Sakai W,Sato K,Sugasawa K,|

TFIIH mutations can impact on translational fidelity of the ribosome.
https://doi.org/10.1093/hmg/ddac268
Human Molecular Genetics; Khalid F, Phan T et. al.

Oct 30th, 2022 - TFIIH is a complex essential for transcription of protein-coding genes by RNA polymerase II, DNA repair of UV-lesions and transcription of rRNA by RNA polymerase I. Mutations in TFIIH cause the cancer prone DNA-repair disorder xeroderma pigmentosu...

Variant subtype of xeroderma pigmentosum diagnosed in a 63-year-old woman
https://doi.org/10.1684/ejd.2022.4347
European Journal of Dermatology : EJD; Alband N, Yethenpa S et. al.

Oct 28th, 2022 - Variant subtype of xeroderma pigmentosum diagnosed in a 63-year-old woman|2022|Alband N,Yethenpa S,McDonald S,Ha T,|complications,diagnosis,genetics,

Prevalence and mechanisms of somatic deletions in single human neurons during normal ag...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9546902
Nature Communications; Kim J, Huang AY et. al.

Oct 8th, 2022 - Replication errors and various genotoxins cause DNA double-strand breaks (DSBs) where error-prone repair creates genomic mutations, most frequently focal deletions, and defective repair may lead to neurodegeneration. Despite its pathophysiological...

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Drugs  3 results see all →

Clinicaltrials.gov  15 results

Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum
https://clinicaltrials.gov/ct2/show/NCT00046189

Oct 7th, 2022 - Xeroderma Pigmentosum (XP) is a rare, recessive disorder with a more than 1000-fold increase in the frequency of all major skin cancers in association with defective DNA repair. The risk of skin and other cancers among normal appearing XP heterozy...

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

Oct 7th, 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...

A Study to Evaluate the Safety and Efficacy of Afamelanotide in Patients With Xeroderma Pigmentosum (XP)
https://clinicaltrials.gov/ct2/show/NCT05159752

Sep 28th, 2022 - The CUV156 study will evaluate the safety of afamelanotide in XP-C patients, as well as the drug's ability to assist reparative processes following ultraviolet (UV) provoked DNA damage of the skin. It will assess whether SCENESSE® increases the am...

Natural History Study for DNA Repair Disorders
https://clinicaltrials.gov/ct2/show/NCT05484570

Sep 21st, 2022 - This will be a single-center, single-arm, non-interventional natural history study to evaluate the longitudinal clinical course, functional outcome measures, and candidate biomarkers for individuals with DNA repair disorders, including Cockayne sy...

A Study to Evaluate the Safety and Efficacy of Afamelanotide in Patients With Xeroderma Pigmentosum C and V
https://clinicaltrials.gov/ct2/show/NCT05370235

May 11th, 2022 - The CUV152 study will evaluate the safety of afamelanotide in XP-C and XP-V patients, as well as the drug's ability to assist reparative processes following ultraviolet (UV) provoked DNA damage of the skin. It will assess whether SCENESSE® increas...

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News  18 results

DNA Damage Response: A Constant Effort to Maintain Cell Integrity Might Help Cancer Patients After All
https://www.onclive.com/view/dna-damage-response-a-constant-effort-to-maintain-cell-integrity-might-help-cancer-patients-after-all

Dec 20th, 2020 - Andre Goy, MD Editor-in-Chief of Oncology & Biotech News Chairman and Director Chief of Lymphoma Director, Clinical and Translational Cancer Research John Theurer Cancer Center at Hackensack University Medical Center The pr...

Updates and Advances in Basal Cell Carcinoma
https://www.onclive.com/view/updates-and-advances-in-basal-cell-carcinoma

Dec 18th, 2020 - Although basal cell carcinoma (BCC) generally has a good prognosis, improving tolerance to targeted Hedgehog (HH) inhibitors and optimizing second-line treatment with immune checkpoint inhibitors are important for the small subset of patients who ...

Researchers Identify Gene Involved in DNA Repair From UVB Damage
https://www.onclive.com/view/researchers-identify-gene-involved-in-dna-repair-from-uvb-damage

Dec 4th, 2020 - UV radiation DNA damage. (Illustration by David Herring) The tumor suppressor gene PTEN has been linked to the removal of DNA damage from UVB radiation, a major risk factor in the development of skin cancer. The discovery may help researchers to ...

Fast Five Quiz: Malignant Melanoma
https://reference.medscape.com/viewarticle/936083_2

Aug 21st, 2020 - Primary risk factors and clinical warning signs for melanoma include: Changing mole (most important clinical warning sign) Presence of xeroderma pigmentosum or familial atypical mole melanoma syndrome Clinical atypical/dysplastic nevi in familial ...

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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Patient Education  1 results see all →