BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

247 related articles for article (PubMed ID: 31374204)

  • 1. Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.
    Theil AF; Botta E; Raams A; Smith DEC; Mendes MI; Caligiuri G; Giachetti S; Bione S; Carriero R; Liberi G; Zardoni L; Swagemakers SMA; Salomons GS; Sarasin A; Lehmann A; van der Spek PJ; Ogi T; Hoeijmakers JHJ; Vermeulen W; Orioli D
    Am J Hum Genet; 2019 Aug; 105(2):434-440. PubMed ID: 31374204
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome.
    Lambert WC; Gagna CE; Lambert MW
    Adv Exp Med Biol; 2010; 685():106-10. PubMed ID: 20687499
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
    Botta E; Theil AF; Raams A; Caligiuri G; Giachetti S; Bione S; Accadia M; Lombardi A; Smith DEC; Mendes MI; Swagemakers SMA; van der Spek PJ; Salomons GS; Hoeijmakers JHJ; Yesodharan D; Nampoothiri S; Ogi T; Lehmann AR; Orioli D; Vermeulen W
    Hum Mol Genet; 2021 Aug; 30(18):1711-1720. PubMed ID: 33909043
    [TBL] [Abstract][Full Text] [Related]  

  • 4. New clinico-genetic classification of trichothiodystrophy.
    Morice-Picard F; Cario-André M; Rezvani H; Lacombe D; Sarasin A; Taïeb A
    Am J Med Genet A; 2009 Sep; 149A(9):2020-30. PubMed ID: 19681155
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
    Weeda G; Eveno E; Donker I; Vermeulen W; Chevallier-Lagente O; Taïeb A; Stary A; Hoeijmakers JH; Mezzina M; Sarasin A
    Am J Hum Genet; 1997 Feb; 60(2):320-9. PubMed ID: 9012405
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Trichothiodystrophy: from basic mechanisms to clinical implications.
    Stefanini M; Botta E; Lanzafame M; Orioli D
    DNA Repair (Amst); 2010 Jan; 9(1):2-10. PubMed ID: 19931493
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.
    Theil AF; Mandemaker IK; van den Akker E; Swagemakers SMA; Raams A; Wüst T; Marteijn JA; Giltay JC; Colombijn RM; Moog U; Kotzaeridou U; Ghazvini M; von Lindern M; Hoeijmakers JHJ; Jaspers NGJ; van der Spek PJ; Vermeulen W
    Hum Mol Genet; 2017 Dec; 26(23):4689-4698. PubMed ID: 28973399
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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 WJ; Jaspers NG; Sarasin A; Lehmann AR; Stefanini M
    Hum Mutat; 2007 Jan; 28(1):92-6. PubMed ID: 16977596
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH.
    Hashimoto S; Egly JM
    Hum Mol Genet; 2009 Oct; 18(R2):R224-30. PubMed ID: 19808800
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.
    Itin PH; Sarasin A; Pittelkow MR
    J Am Acad Dermatol; 2001 Jun; 44(6):891-920; quiz 921-4. PubMed ID: 11369901
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
    Kuo ME; Theil AF; Kievit A; Malicdan MC; Introne WJ; Christian T; Verheijen FW; Smith DEC; Mendes MI; Hussaarts-Odijk L; van der Meijden E; van Slegtenhorst M; Wilke M; Vermeulen W; Raams A; Groden C; Shimada S; Meyer-Schuman R; Hou YM; Gahl WA; Antonellis A; Salomons GS; Mancini GMS
    Am J Hum Genet; 2019 Mar; 104(3):520-529. PubMed ID: 30824121
    [TBL] [Abstract][Full Text] [Related]  

  • 13. GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.
    Kuschal C; Botta E; Orioli D; Digiovanna JJ; Seneca S; Keymolen K; Tamura D; Heller E; Khan SG; Caligiuri G; Lanzafame M; Nardo T; Ricotti R; Peverali FA; Stephens R; Zhao Y; Lehmann AR; Baranello L; Levens D; Kraemer KH; Stefanini M
    Am J Hum Genet; 2016 Apr; 98(4):627-42. PubMed ID: 26996949
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
    Corbett MA; Dudding-Byth T; Crock PA; Botta E; Christie LM; Nardo T; Caligiuri G; Hobson L; Boyle J; Mansour A; Friend KL; Crawford J; Jackson G; Vandeleur L; Hackett A; Tarpey P; Stratton MR; Turner G; Gécz J; Field M
    J Med Genet; 2015 Apr; 52(4):269-74. PubMed ID: 25612912
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Slowly progressing nucleotide excision repair in trichothiodystrophy group A patient fibroblasts.
    Theil AF; Nonnekens J; Wijgers N; Vermeulen W; Giglia-Mari G
    Mol Cell Biol; 2011 Sep; 31(17):3630-8. PubMed ID: 21730288
    [TBL] [Abstract][Full Text] [Related]  

  • 16. TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.
    Lanzafame M; Nardo T; Ricotti R; Pantaleoni C; D'Arrigo S; Stanzial F; Benedicenti F; Thomas MA; Stefanini M; Orioli D; Botta E
    Hum Mutat; 2022 Dec; 43(12):2222-2233. PubMed ID: 36259739
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Analysis of mutations in the XPD gene in a patient with brittle hair.
    Shin S; Kim J; Kim Y; Sun JY; Yoo JH; Lee KA
    Ann Clin Lab Sci; 2013; 43(3):323-7. PubMed ID: 23884229
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom.
    Zhou YK; Yang XC; Cao Y; Su H; Liu L; Liang Z; Zheng Y
    BMC Med Genet; 2018 Dec; 19(Suppl 1):214. PubMed ID: 30598092
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation.
    Theil AF; Pines A; Kalayci T; Heredia-Genestar JM; Raams A; Rietveld MH; Sridharan S; Tanis SE; Mulder KW; Büyükbabani N; Karaman B; Uyguner ZO; Kayserili H; Hoeijmakers JH; Lans H; Demmers JA; Pothof J; Altunoglu U; El Ghalbzouri A; Vermeulen W
    EMBO Mol Med; 2023 Nov; 15(11):e17973. PubMed ID: 37800682
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Nucleotide excision repair/transcription gene defects in the fetus and impaired TFIIH-mediated function in transcription in placenta leading to preeclampsia.
    Moslehi R; Ambroggio X; Nagarajan V; Kumar A; Dzutsev A
    BMC Genomics; 2014 May; 15():373. PubMed ID: 24885447
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.