20 results for author:"Raams A." in Literature citations
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| SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo. Baradaran-Heravi A., Raams A., Lubieniecka J., Cho K.S., DeHaai K.A., Basiratnia M., Mari P.O., Xue Y., Rauth M., Olney A.H. et al. Am. J. Med. Genet. A 158A:2204-2213(2012) · Mapped (1) |
| UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair. Schwertman P., Lagarou A., Dekkers D.H., Raams A., van der Hoek A.C., Laffeber C., Hoeijmakers J.H., Demmers J.A., Fousteri M., Vermeulen W. et al. |
| ERCC6 founder mutation identified in Finnish patients with COFS syndrome. Jaakkola E., Mustonen A., Olsen P., Miettinen S., Savuoja T., Raams A., Jaspers N.G., Shao H., Wu B.L., Ignatius J. Clin. Genet. 78:541-547(2010) · Mapped (5) |
| Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients. Ahmad A., Enzlin J.H., Bhagwat N.R., Wijgers N., Raams A., Appledoorn E., Theil A.F., J Hoeijmakers J.H., Vermeulen W., J Jaspers N.G. et al. PLoS Genet. 6:e1000871-e1000871(2010) · Mapped (8) |
| Versatile DNA damage detection by the global genome nucleotide excision repair protein XPC. Hoogstraten D., Bergink S., Ng J.M., Verbiest V.H., Luijsterburg M.S., Geverts B., Raams A., Dinant C., Hoeijmakers J.H., Vermeulen W. et al. J. Cell Sci. 121:2850-2859(2008) · UniProtKB (1) · Mapped (11) |
| First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. Jaspers N.G.J., Raams A., Silengo M.C., Wijgers N., Niedernhofer L.J., Robinson A.R., Giglia-Mari G., Hoogstraten D., Kleijer W.J., Hoeijmakers J.H.J. et al. Am. J. Hum. Genet. 80:457-466(2007) · UniProtKB (1) · Mapped (3) |
| A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis. Niedernhofer L.J., Garinis G.A., Raams A., Lalai A.S., Robinson A.R., Appeldoorn E., Odijk H., Oostendorp R., Ahmad A., van Leeuwen W. et al. |
| Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. Botta E., Offman J., Nardo T., Ricotti R., Zambruno G., Sansone D., Balestri P., Raams A., Kleijer W.J., Jaspers N.G. et al. Hum. Mutat. 28:92-96(2007) · Mapped (2) |
| Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. Oh K.-S., Khan S.G., Jaspers N.G.J., Raams A., Ueda T., Lehmann A., Friedmann P.S., Emmert S., Gratchev A., Lachlan K. et al. |
| An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria. Andressoo J.O., Mitchell J.R., de Wit J., Hoogstraten D., Volker M., Toussaint W., Speksnijder E., Beems R.B., van Steeg H., Jans J. et al. Cancer Cell 10:121-132(2006) · Mapped (12) |
| A new type of radiosensitive T-B-NK(+) severe combined immunodeficiency caused by a LIG4 mutation. van der Burg M., van Veelen L.R., Verkaik N.S., Wiegant W.W., Hartwig N.G., Barendregt B.H., Brugmans L., Raams A., Jaspers N.G.J., Zdzienicka M.Z. et al. J. Clin. Invest. 116:137-145(2006) · UniProtKB (1) · Mapped (4) |
| Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Nakabayashi K., Amann D., Ren Y., Saarialho-Kere U., Avidan N., Gentles S., MacDonald J.R., Puffenberger E.G., Christiano A.M., Martinez-Mir A. et al. Am. J. Hum. Genet. 76:510-516(2005) · UniProtKB (1) · Mapped (1) |
| Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage. Thorel F., Constantinou A., Dunand-Sauthier I., Nouspikel T., Lalle P., Raams A., Jaspers N.G., Vermeulen W., Shivji M.K., Wood R.D. et al. Mol. Cell. Biol. 24:10670-10680(2004) · Mapped (6) |
| A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A and stabilizes TFIIH. Giglia-Mari G., Coin F., Ranish J.A., Hoogstraten D., Theil A., Wijgers N., Jaspers N.G.J., Raams A., Argentini M., van der Spek P.J. et al. |
| Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum variant patients. Broughton B.C., Cordonnier A., Kleijer W.J., Jaspers N.G., Fawcett H., Raams A., Garritsen V.H., Stary A., Avril M.-F., Boudsocq F. et al. Proc. Natl. Acad. Sci. U.S.A. 99:815-820(2002) · UniProtKB (1) |
| Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Graham J.M. Jr., Anyane-Yeboa K., Raams A., Appeldoorn E., Kleijer W.J., Garritsen V.H., Busch D., Edersheim T.G., Jaspers N.G.J. Am. J. Hum. Genet. 69:291-300(2001) · UniProtKB (1) · Mapped (1) |
| A temperature-sensitive disorder in basal transcription and DNA repair in humans. Vermeulen W., Rademakers S., Jaspers N.G.J., Appeldoorn E., Raams A., Klein B., Kleijer W.J., Hansen L.K., Hoeijmakers J.H.J. Nat. Genet. 27:299-303(2001) · UniProtKB (1) |
| Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. Zafeiriou D.I., Thorel F., Andreou A., Kleijer W.J., Raams A., Garritsen V.H., Gombakis N., Jaspers N.G.J., Clarkson S.G. Pediatr. Res. 49:407-412(2001) · UniProtKB (1) |
| The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Stewart G.S., Maser R.S., Stankovic T., Bressan D.A., Kaplan M.I., Jaspers N.G.J., Raams A., Byrd P.J., Petrini J.H.J., Taylor A.M.R. |
| Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. Sijbers A.M., van Voorst Vader P.C., Snoek J.W., Raams A., Jaspers N.G.J., Kleijer W.J. J. Invest. Dermatol. 110:832-836(1998) · UniProtKB (1) |