151 related articles for article (PubMed ID: 33909043)
1. 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]
2. 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]
3. 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]
4. Reduced levels of prostaglandin I
Lombardi A; Arseni L; Carriero R; Compe E; Botta E; Ferri D; Uggè M; Biamonti G; Peverali FA; Bione S; Orioli D
Proc Natl Acad Sci U S A; 2021 Jun; 118(26):. PubMed ID: 34155103
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.
Zhou X; Khan SG; Tamura D; Ueda T; Boyle J; Compe E; Egly JM; DiGiovanna JJ; Kraemer KH
Eur J Hum Genet; 2013 Aug; 21(8):831-7. PubMed ID: 23232694
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. A Japanese trichothiodystrophy patient with XPD mutations.
Usuda T; Saijo M; Tanaka K; Sato N; Uchiyama M; Kobayashi T
J Hum Genet; 2011 Jan; 56(1):77-9. PubMed ID: 20944642
[TBL] [Abstract][Full Text] [Related]
11. Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy.
Lee AJ; Nam DE; Choi YJ; Nam SH; Choi BO; Chung KW
Genes Genomics; 2020 Jun; 42(6):663-672. PubMed ID: 32314272
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Accelerated aging pathology in ad libitum fed Xpd(TTD) mice is accompanied by features suggestive of caloric restriction.
Wijnhoven SW; Beems RB; Roodbergen M; van den Berg J; Lohman PH; Diderich K; van der Horst GT; Vijg J; Hoeijmakers JH; van Steeg H
DNA Repair (Amst); 2005 Nov; 4(11):1314-24. PubMed ID: 16115803
[TBL] [Abstract][Full Text] [Related]
15. Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients.
Nishiwaki T; Kobayashi N; Iwamoto T; Yamamoto A; Sugiura S; Liu YC; Sarasin A; Okahashi Y; Hirano M; Ueno S; Mori T
DNA Repair (Amst); 2008 Dec; 7(12):1990-8. PubMed ID: 18817897
[TBL] [Abstract][Full Text] [Related]
16. A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report.
Michalska E; Koppolu A; Dobrzańska A; Płoski R; Gruszfeld D
Eur J Med Genet; 2019 Sep; 62(9):103557. PubMed ID: 30359777
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Dysregulation of LXR responsive genes contribute to ichthyosis in trichothiodystrophy.
Hashimoto S; Takanari H; Compe E; Egly JM
J Dermatol Sci; 2020 Mar; 97(3):201-207. PubMed ID: 32037099
[TBL] [Abstract][Full Text] [Related]
19. Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene.
Moriwaki S; Saruwatari H; Kanzaki T; Kanekura T; Minoshima S
J Dermatol; 2014 Aug; 41(8):705-8. PubMed ID: 24986372
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]