198 related articles for article (PubMed ID: 35699229)
1. Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD
Cordts I; Önder D; Traschütz A; Kobeleva X; Karin I; Minnerop M; Koertvelyessy P; Biskup S; Forchhammer S; Binder J; Tzschach A; Meiss F; Schmidt A; Kreiß M; Cremer K; Mensah MA; Park J; Rautenberg M; Deininger N; Sturm M; Lingor P; Klopstock T; Weiler M; Marxreiter F; Synofzik M; Posch C; Sirokay J; Klockgether T; Haack TB; Deschauer M
Mov Disord; 2022 Aug; 37(8):1707-1718. PubMed ID: 35699229
[TBL] [Abstract][Full Text] [Related]
2. Heterogeneity and overlaps in nucleotide excision repair disorders.
Ferri D; Orioli D; Botta E
Clin Genet; 2020 Jan; 97(1):12-24. PubMed ID: 30919937
[TBL] [Abstract][Full Text] [Related]
3. Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome.
Kondo D; Noguchi A; Tamura H; Tsuchida S; Takahashi I; Kubota H; Yano T; Oyama C; Sawaishi Y; Moriwaki S; Takahashi T
Tohoku J Exp Med; 2016 Jul; 239(3):231-5. PubMed ID: 27396511
[TBL] [Abstract][Full Text] [Related]
4. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
Boyle J; Ueda T; Oh KS; Imoto K; Tamura D; Jagdeo J; Khan SG; Nadem C; Digiovanna JJ; Kraemer KH
Hum Mutat; 2008 Oct; 29(10):1194-208. PubMed ID: 18470933
[TBL] [Abstract][Full Text] [Related]
5. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.
Kraemer KH; Patronas NJ; Schiffmann R; Brooks BP; Tamura D; DiGiovanna JJ
Neuroscience; 2007 Apr; 145(4):1388-96. PubMed ID: 17276014
[TBL] [Abstract][Full Text] [Related]
6. Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition.
de Boer J; van Steeg H; Berg RJ; Garssen J; de Wit J; van Oostrum CT; Beems RB; van der Horst GT; van Kreijl CF; de Gruijl FR; Bootsma D; Hoeijmakers JH; Weeda G
Cancer Res; 1999 Jul; 59(14):3489-94. PubMed ID: 10416615
[TBL] [Abstract][Full Text] [Related]
7. Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology.
Jaarsma D; van der Pluijm I; de Waard MC; Haasdijk ED; Brandt R; Vermeij M; Rijksen Y; Maas A; van Steeg H; Hoeijmakers JH; van der Horst GT
PLoS Genet; 2011 Dec; 7(12):e1002405. PubMed ID: 22174697
[TBL] [Abstract][Full Text] [Related]
8. Cockayne syndrome and xeroderma pigmentosum.
Rapin I; Lindenbaum Y; Dickson DW; Kraemer KH; Robbins JH
Neurology; 2000 Nov; 55(10):1442-9. PubMed ID: 11185579
[TBL] [Abstract][Full Text] [Related]
9. Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.
Baer S; Obringer C; Julia S; Chelly J; Capri Y; Gras D; Baujat G; Felix TM; Doray B; Sanchez Del Pozo J; Ramos LM; Burglen L; Laugel V; Calmels N
Clin Genet; 2020 Sep; 98(3):251-260. PubMed ID: 32557569
[TBL] [Abstract][Full Text] [Related]
10. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
Graham JM; Anyane-Yeboa K; Raams A; Appeldoorn E; Kleijer WJ; Garritsen VH; Busch D; Edersheim TG; Jaspers NG
Am J Hum Genet; 2001 Aug; 69(2):291-300. PubMed ID: 11443545
[TBL] [Abstract][Full Text] [Related]
11. An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.
Andressoo JO; Mitchell JR; de Wit J; Hoogstraten D; Volker M; Toussaint W; Speksnijder E; Beems RB; van Steeg H; Jans J; de Zeeuw CI; Jaspers NG; Raams A; Lehmann AR; Vermeulen W; Hoeijmakers JH; van der Horst GT
Cancer Cell; 2006 Aug; 10(2):121-32. PubMed ID: 16904611
[TBL] [Abstract][Full Text] [Related]
12. Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency.
Reid-Bayliss KS; Arron ST; Loeb LA; Bezrookove V; Cleaver JE
Proc Natl Acad Sci U S A; 2016 Sep; 113(36):10151-6. PubMed ID: 27543334
[TBL] [Abstract][Full Text] [Related]
13. DNA repair in mammalian cells : Nucleotide excision repair: variations on versatility.
Nouspikel T
Cell Mol Life Sci; 2009 Mar; 66(6):994-1009. PubMed ID: 19153657
[TBL] [Abstract][Full Text] [Related]
14. The case for 8,5'-cyclopurine-2'-deoxynucleosides as endogenous DNA lesions that cause neurodegeneration in xeroderma pigmentosum.
Brooks PJ
Neuroscience; 2007 Apr; 145(4):1407-17. PubMed ID: 17184928
[TBL] [Abstract][Full Text] [Related]
15. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Calmels N; Greff G; Obringer C; Kempf N; Gasnier C; Tarabeux J; Miguet M; Baujat G; Bessis D; Bretones P; Cavau A; Digeon B; Doco-Fenzy M; Doray B; Feillet F; Gardeazabal J; Gener B; Julia S; Llano-Rivas I; Mazur A; Michot C; Renaldo-Robin F; Rossi M; Sabouraud P; Keren B; Depienne C; Muller J; Mandel JL; Laugel V
Orphanet J Rare Dis; 2016 Mar; 11():26. PubMed ID: 27004399
[TBL] [Abstract][Full Text] [Related]
16. Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.
Totonchy MB; Tamura D; Pantell MS; Zalewski C; Bradford PT; Merchant SN; Nadol J; Khan SG; Schiffmann R; Pierson TM; Wiggs E; Griffith AJ; DiGiovanna JJ; Kraemer KH; Brewer CC
Brain; 2013 Jan; 136(Pt 1):194-208. PubMed ID: 23365097
[TBL] [Abstract][Full Text] [Related]
17. Xeroderma pigmentosum--bridging a gap between clinic and laboratory.
Moriwaki S; Kraemer KH
Photodermatol Photoimmunol Photomed; 2001 Apr; 17(2):47-54. PubMed ID: 11338401
[TBL] [Abstract][Full Text] [Related]
18. Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).
Emmert S; Ueda T; Zumsteg U; Weber P; Khan SG; Oh KS; Boyle J; Laspe P; Zachmann K; Boeckmann L; Kuschal C; Bircher A; Kraemer KH
Exp Dermatol; 2009 Jan; 18(1):64-8. PubMed ID: 18637129
[TBL] [Abstract][Full Text] [Related]
19. Nucleotide excision repair and cancer.
Leibeling D; Laspe P; Emmert S
J Mol Histol; 2006 Sep; 37(5-7):225-38. PubMed ID: 16855787
[TBL] [Abstract][Full Text] [Related]
20. Nucleotide excision repair deficient mouse models and neurological disease.
Niedernhofer LJ
DNA Repair (Amst); 2008 Jul; 7(7):1180-9. PubMed ID: 18272436
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
