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UV-Sensitive Syndrome

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Photosensitivity Disorders: 2722
    - UV-Sensitive Syndrome: 9

Related Diseases

1.	Cockayne Syndrome (Syndrome, Cockayne)
2.	Inborn Genetic Diseases (Disease, Hereditary)
3.	Xeroderma Pigmentosum (Kaposi's Disease)

Experts

1.	Horibata, Katsuyoshi: 2 articles (05/2012 - 01/2011)
2.	Nardo, Tiziana: 2 articles (05/2012 - 04/2009)
3.	Stefanini, Miria: 2 articles (05/2012 - 04/2009)
4.	Tanaka, Kiyoji: 2 articles (05/2012 - 01/2011)
5.	Basit, Sulman: 1 article (09/2019)
6.	Betz, Regina C: 1 article (09/2019)
7.	Ijaz, Ambreen: 1 article (09/2019)
8.	Mandukhail, Safur Rehman: 1 article (09/2019)
9.	Wali, Abdul: 1 article (09/2019)
10.	Wolf, Sabrina: 1 article (09/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to UV-Sensitive Syndrome:

1.	Proteins (Proteins, Gene)FDA Link 05/01/2012 - "UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair." 01/01/2011 - "Two UV-sensitive syndrome patients who have mild photosensitivity without detectable somatic abnormalities lack detectable Cockayne syndrome group B (CSB) protein because of a homozygous null mutation in the CSB gene. " 10/01/2023 - "Cockayne syndrome (CS) and UV-sensitive syndrome (UVSS) are rare genetic disorders caused by mutation of the DNA repair and multifunctional CSA or CSB protein, but only CS patients display a progeroid and neurodegenerative phenotype, providing a unique conceptual and experimental paradigm. " 05/01/2012 - "We also show by microarray analysis that expression of the fusion protein alone in CSB-null UV-sensitive syndrome (UVSS) cells induces an interferon-like response that resembles both the innate antiviral response and the prolonged interferon response normally maintained by unphosphorylated STAT1 (U-STAT1); moreover, as might be expected based on conservation of the fusion protein, this potentially cytotoxic interferon-like response is largely reversed by coexpression of functional CSB protein. "
2.	A-Form DNA (A-DNA)IBA 03/01/2016 - "Although Cockayne syndrome is considered a DNA repair disorder, patients with UV-sensitive syndrome, with ERCC8 (CSA) or ERCC6 (CSB) mutations have indistinguishable DNA repair defects, but none of the extradermal features of Cockayne syndrome. "
3.	Nonsense Codon (Nonsense Mutation)IBA 09/01/2019 - "UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan."
4.	DNA-Directed RNA Polymerases (RNA Polymerase)IBA 05/01/2012 - "Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair."
5.	RNA (Ribonucleic Acid)IBA 08/06/1998 - "These strains also exhibit defective nucleotide excision repair and pronounced inhibition of RNA synthesis following UV exposure, both of which are molecular hallmarks of cells derived from patients with the UV-sensitive syndrome xeroderma pigmentosum. "
6.	InterferonsIBA 05/01/2012 - "We also show by microarray analysis that expression of the fusion protein alone in CSB-null UV-sensitive syndrome (UVSS) cells induces an interferon-like response that resembles both the innate antiviral response and the prolonged interferon response normally maintained by unphosphorylated STAT1 (U-STAT1); moreover, as might be expected based on conservation of the fusion protein, this potentially cytotoxic interferon-like response is largely reversed by coexpression of functional CSB protein. "
7.	DNA (Deoxyribonucleic Acid)IBA 04/14/2009 - "UV-sensitive syndrome (UV(S)S) is a recently-identified autosomal recessive disorder characterized by mild cutaneous symptoms and defective transcription-coupled repair (TC-NER), the subpathway of nucleotide excision repair (NER) that rapidly removes damage that can block progression of the transcription machinery in actively-transcribed regions of DNA. "
8.	Antiviral Agents (Antivirals)IBA 05/01/2012 - "We also show by microarray analysis that expression of the fusion protein alone in CSB-null UV-sensitive syndrome (UVSS) cells induces an interferon-like response that resembles both the innate antiviral response and the prolonged interferon response normally maintained by unphosphorylated STAT1 (U-STAT1); moreover, as might be expected based on conservation of the fusion protein, this potentially cytotoxic interferon-like response is largely reversed by coexpression of functional CSB protein. "