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Showing 1 to 20 of 23 for “"Xeroderma pigmentosum."”.

  1. Understanding the biological processes underpinning neurodegeneration in Xeroderma Pigmentosum

    Momen, SophieUniversity of Cambridge2023

    Xeroderma pigmentosum (XP) is a rare genetic disorder of nucleotide excision repair (NER). XP is classified into eight complementation groups, XP-A to XP-G and V, depending on the protein component of the NER pathway that is defective. NER is split into two branches. Transcription coupled repair …

    cambridge Repository record

  2. Xeroderma-Pigmentosum-Gruppe-C- und -G-Gen-Polymorphismen: Alternatives Splicing und funktionelle DNA-Reparatur beim multiplen Melanom

    Vollert, Seike2012

    Xeroderma-Pigmentosum-Gruppe-C- und G-Gen-Polymorphismen: Alternatives Splicing und funktionelle DNA-Reparatur beim multiplen MelanomK.-M. Thoms1, S. Vollert2, P. Laspe1, A. Rosenberger3, S. Emmert11Klink für Dermatologie und Venerologie, Georg-August-Universität Göttingen 2Klinik für …

    goettingen Repository record

  3. ΣΥΜΒΟΛΗ ΣΤΗ ΜΕΛΕΤΗ ΤΩΝ ΕΠΙΔΙΟΡΘΩΤΙΚΩΝ ΜΗΧΑΝΙΣΜΩΝ ΤΟΥ DNA ΣΕ ΛΕΜΦΟΚΥΤΤΑΡΑ ΑΤΟΜΩΝ ΜΕ ΣΥΝΔΡΟΜΟ DOWN

    Athanasiou, Kyriacos, Αθανασίου, ΚυριάκοςUniversity of Patras1981

    … OF SIMILAR LEVELS. IN THIS RESPECT DS RESEMBLES XERODERMA PIGMENTOSUM. 2) BY STUDYING THE DNA SEDIMENTATION PROFILES IN ALKALINE SUCROSE GRADIENTS WHICH SHOWED A LESS EFFICIENT CAPACITY OF DS LYMPHOCYTES TO REPAIR SINGLE STRAND BREAKS INDUCED BY X- RAYS. 3) BY COMPARING THE FREQUENCY OF …

    greece Repository record

  4. XPC Haplotypes Alter DNA Repair Capacity and Levels of Genetic Damage

    Rondelli, Catherine MichelleThe University of Texas Medical Branch at Galveston2016

    Xeroderma pigmentosum complementation group C (XPC) is the key recognition factor of DNA damage in global genome nucleotide excision repair (NER). The disease Xeroderma pigmentosum (XP) results from mutations leading to structural defects of the encoding gene and in some instances trace to changes …

    utmb Repository record

  5. Nucleotide Excision Repair, Crosslink Repair and Transcriptional Function of Xpa In Human Cells

    Mananadhar, Mandira2017

    … repair (NER) in mammalian cells includes xeroderma pigmentosum group A protein (XPA) as a core factor. XPA and other NER proteins have been detected previously at some active promoters, and NER deficiency is reported to decrease activated transcription of selected genes. To determine the …

    uthsc Repository record

  6. The effect of single-stranded DNA binding protein RPA2 on XPD helicase processivity

    Stekas, BarbaraUniversity of Illinois at Urbana-Champaign2018

    … on a two-protein system involved in DNA repair. Xeroderma pigmentosum group D (XPD) is a helicase protein that plays an important role in nucleotide excision repair (NER). Its function is to unwind double-stranded DNA, allowing access to the bases that connect the strands and code genetic …

    uiuc Repository record

  7. p53 nuclear localization control, and p53-dependent regulation of DNA repair gene transcripts

    Boyd, Scott D. (Scott Dexter), 1970-Massachusetts Institute of Technology2004

    … the DNA repair gene ErccS, which encodes the xeroderma pigmentosum disease gene homolog Xpg, a participant in nucleotide excision repair and a mediator of base excision repair of oxidative DNA damage.

    mit Repository record

  8. Direct observation of XPD helicase base-pair stepping and regulation by RPA2

    Qi, ZhiUniversity of Illinois at Urbana-Champaign2013

    … is the archaeal homolog of yeast Rad3 and human xeroderma pigmentosum group D protein (XPD) helicase from the organism Ferroplasma acidarmanus. This enzyme serves as a model for understanding the molecular mechanism of human Superfamily 2B helicase XPD involved in transcription initiation and …

    uiuc Repository record

  9. Focused CRISPR-Cas9 screens investigating the DNA damage response

    Bowden, AnneUniversity of Cambridge2020

    … treatment target in the DNA repair disorder Xeroderma Pigmentosum. We show that SLFN11 depletion rescues ultraviolet (UV) hypersensitivity in cells deficient in nucleotide excision repair and translesion synthesis. We propose that increased cell survival associated with SLFN11 depletion …

    cambridge Repository record

  10. 1, Structural and Functional Studies of Human Replication Protein A; 2 DNA Damage Responses and DNA Repair Defects in Laminopathy-Based Premature Aging.

    Liu, Yiyong2007

    … repair factors to DSBs was impaired. Strikingly, xeroderma pigmentosum group A (XPA), a unique NER protein, formed foci and colocalized with the unrepairable DSBs in the patient cells. RNAi knockdown of XPA in HGPS cells significantly restored DSB repair. These results indicate that XPA …

    etsu Repository record

  11. Structural and Biochemical Investigation of the Molecular Mechanisms of DNA Response and Repair in Humans and <em>Escherichia coli</em>.

    Shell, Steven Michael2008

    … nuclear accumulation of the required NER factor Xeroderma pigmentosum group A (XPA) in both a dose- and time-dependent fashion. Also, using surface topology mapping we have defined an α-helix motif on XPA required for XPA-ATR complex formation necessary for XPA phosphorylation. In addition, we …

    etsu Repository record

  12. New Insights into the Roles of Human DNA Damage Checkpoint Protein ATR in the Regulation of Nucleotide Excision Repair and DNA Damage-Induced Cell Death

    Li, Zhengke2013

    … that ATR physically interacts with NER factor xeroderma pigmentosum group A (XPA) where an ATR phosphorylation site on serine 196 is located. Phosphorylation of XPA on serine 196 is required for repair of UV-induced DNA damage. In addition, a K188A point mutation of XPA that disrupts the …

    etsu Repository record

  13. Arsenic in drinking water caused ultra-structural damage in urinary bladder but did not affect expression of DNA damage repair genes or repair of DNA damage in transitional cells

    Wang, Hui-Shan AmyVirginia Tech2007

    … excision repair cross-complementing group 3/Xeroderma Pigmentosum B (ERCC3/XPB), and DNA polymerase beta genes were not altered, as measured by real time RT PCR. These results suggested either that DMA(V) affects DNA repair without affecting the baseline expression of DNA repair genes or that …

    vt Repository record

  14. Light-induced modulation of DNA recognition by the Rad4/XPC damage sensor protein.

    Tavakoli-Targhi, Amirrasoul, 1990-Baylor University.2021

    … of DNA damage recognition by the xeroderma pigmentosum C complex (XPC-Rad23B; Rad4-23 in yeast). Rad4/XPC specifically recognizes various bulky helixdestabilizing/distorting lesions in the genomic DNA to initiate the global genome nucleotide excision repair (GG-NER) pathway in …

    baylor Repository record

  15. Einfluss der Immunsuppressiva Cyclosporin A und Everolimus auf die funktionelle DNA-Reparaturfähigkeit sowie auf die Regulation von DNA-Reparatur-Genen

    Kuschal, Christiane2012

    … scheint, ist weitgehend unerforscht. Auch Xeroderma Pigmentosum (XP-) Patienten besitzen ein mehr als 1000-fach erhöhtes Hautkrebsrisiko aufgrund einer defekten Nukleotid-Exzisions-Reparatur (NER) von UV-induzierten DNA-Schäden. Daher sollte der Einfluss des Immunsuppressivums Cyclosporin A …

    goettingen Repository record

  16. A STUDY OF THE INTERPLAY BETWEEN SACCHAROMYCES CEREVISIAE TRANSCRIPTION AND DNA REPAIR.

    Shotton, Priyasri

    … excision repair factor, Rad14p (associated with Xeroderma Pigmentosum, XPA- in humans), and for the first time demonstrated its function in transcription initiation in the absence of DNA damage. Finally, I analyzed whether repair of double strand breaks could be connected to transcription via an …

    siu-theses Repository record

  17. Role of DNA repair protein ERCC1 in skin cancer

    Song, LiangThe University of Edinburgh2009

    … in NER result in the human inherited disorder xeroderma pigmentosum (XP), which is characterised by UV hypersensitivity and a 1000-fold increased risk of skin cancer. ERCC1 is essential for the NER pathway where it acts in a complex with the XPF protein to make the incision 5' to the DNA …

    edinburgh Repository record

  18. PARKIN, BLM AND EXO1: INVOLVEMENT IN POST-NER ACTIVITY IN NON-REPLICATING CELLS

    RONDELLI, DIEGOUniversità degli Studi di Milano2024

    … syndrome, and NER deficiency models such as xeroderma pigmentosum, did not put particular focus on the involvement of the respective proteins in COL's processing, we believe that our findings could contribute in the understanding of the molecular mechanisms laying behind their phenotypes and …

    milano Repository record

  19. Transcription and mismatch repair in the mechanism of action of the anticancer drug cisplatin

    Mello, Jill Ann, 1966-Massachusetts Institute of Technology1997

    … from nucleotide excision repair deficient xeroderma pigmentosum A cells transfected with platinated plasmids, and the extent of RNA synthesis was measured by using ribonuclease protection. The results showed that four-fold more trans-DDP than cis-DDP adducts were required to inhibit …

    mit Repository record

  20. Somatic microsatellite variability as a measure of DNA stability in cancer and DNA repair disorders

    Vaksman, ZalmanVirginia Tech2015

    … the loss of the ERCC8 gene, also known as CSA; xeroderma pigmentosum, caused by the loss of the XPA or XPB genes; Werner syndrome, caused by the loss of the RecQL2 gene; and Rothmond-Thomson syndrome, caused by the loss of the RecQL4 gene. The goal of this project was to determine if impaired …

    vt Repository record

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