Format
Sort by
Items per page

Send to

Choose Destination

Best matches for Trichothiodystrophy:

Hair Loss: Common Causes and Treatment. Phillips TG et al. Am Fam Physician. (2017)

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue. Theil AF et al. Hum Mol Genet. (2017)

Trichothiodystrophy, complementation group A complicated with squamous cell carcinoma. Takeichi T et al. J Eur Acad Dermatol Venereol. (2018)

Search results

Items: 1 to 20 of 450

1.

Signaling Pathways, Chemical and Biological Modulators of Nucleotide Excision Repair: The Faithful Shield against UV Genotoxicity.

Kobaisi F, Fayyad N, Rezvani HR, Fayyad-Kazan M, Sulpice E, Badran B, Fayyad-Kazan H, Gidrol X, Rachidi W.

Oxid Med Cell Longev. 2019 Aug 7;2019:4654206. doi: 10.1155/2019/4654206. eCollection 2019. Review.

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 1;105(2):434-440. doi: 10.1016/j.ajhg.2019.06.017.

PMID:
31374204
3.

XPD/ERCC2 mutations interfere in cellular responses to oxidative stress.

Lerner LK, Moreno NC, Rocha CRR, Munford V, Santos V, Soltys DT, Garcia CCM, Sarasin A, Menck CFM.

Mutagenesis. 2019 Jul 26. pii: gez020. doi: 10.1093/mutage/gez020. [Epub ahead of print]

PMID:
31348825
4.

Genetic Hair Disorders: A Review.

Ahmed A, Almohanna H, Griggs J, Tosti A.

Dermatol Ther (Heidelb). 2019 Sep;9(3):421-448. doi: 10.1007/s13555-019-0313-2. Epub 2019 Jul 22. Review.

5.

Intersections between transcription-coupled repair and alkylation damage reversal.

Brickner JR, Townley BA, Mosammaparast N.

DNA Repair (Amst). 2019 Sep;81:102663. doi: 10.1016/j.dnarep.2019.102663. Epub 2019 Jul 8. Review.

PMID:
31326362
6.

Novel ERCC2 mutation in two siblings with trichothiodystrophy.

Lund EB, Stein SL.

Pediatr Dermatol. 2019 Sep;36(5):668-671. doi: 10.1111/pde.13882. Epub 2019 Jul 8.

PMID:
31282071
7.

Nucleolar and Ribosomal Dysfunction-A Common Pathomechanism in Childhood Progerias?

Phan T, Khalid F, Iben S.

Cells. 2019 Jun 4;8(6). pii: E534. doi: 10.3390/cells8060534. Review.

8.

Transcription preinitiation complex structure and dynamics provide insight into genetic diseases.

Yan C, Dodd T, He Y, Tainer JA, Tsutakawa SE, Ivanov I.

Nat Struct Mol Biol. 2019 Jun;26(6):397-406. doi: 10.1038/s41594-019-0220-3. Epub 2019 May 20.

PMID:
31110295
9.

TFIIE orchestrates the recruitment of the TFIIH kinase module at promoter before release during transcription.

Compe E, Genes CM, Braun C, Coin F, Egly JM.

Nat Commun. 2019 May 7;10(1):2084. doi: 10.1038/s41467-019-10131-1.

10.

Heterogeneity and overlaps in nucleotide excision repair disorders.

Ferri D, Orioli D, Botta E.

Clin Genet. 2019 Mar 28. doi: 10.1111/cge.13545. [Epub ahead of print] Review.

PMID:
30919937
11.

TFIIH: A multi-subunit complex at the cross-roads of transcription and DNA repair.

Kolesnikova O, Radu L, Poterszman A.

Adv Protein Chem Struct Biol. 2019;115:21-67. doi: 10.1016/bs.apcsb.2019.01.003. Epub 2019 Feb 10.

PMID:
30798933
12.

Chromosome Instability Syndromes.

Kaseb H, Hozayen S.

StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2019 Jan-.
2019 Aug 4.

13.

Acquired trichorrhexis nodosa: how to diagnose it?

Turra N, Navarrete J, Magliano J, Bazzano C.

Dermatol Online J. 2018 Nov 15;24(11). pii: 13030/qt3zw9c8zt.

14.

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 31;19(Suppl 1):214. doi: 10.1186/s12881-018-0723-5.

15.

PIBIDS syndrome in two Brazilian siblings.

Abagge KT, Haupenthal F, Felber GY, Raskin S.

BMJ Case Rep. 2018 Dec 22;11(1). pii: e223744. doi: 10.1136/bcr-2017-223744.

PMID:
30580289
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. doi: 10.1016/j.ejmg.2018.10.009. Epub 2018 Oct 22.

PMID:
30359777
17.

Mortality-associated immunological abnormalities in trichothiodystrophy: correlation of reduced levels of immunoglobulin and neutrophils with poor patient survival.

Randall G, Kraemer KH, Pugh J, Tamura D, DiGiovanna JJ, Khan SG, Oetjen KA.

Br J Haematol. 2019 May;185(4):752-754. doi: 10.1111/bjh.15598. Epub 2018 Oct 18. No abstract available.

PMID:
30334570
18.

Trichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease.

Silva DS, Almeida I, Netto CF, Esporcatte BLB, Rolim-de-Moura C.

Arq Bras Oftalmol. 2018 Nov./Dec.;81(6):520-523. doi: 10.5935/0004-2749.20180101. Epub 2018 Oct 11.

19.

Trichoscopy in Hair Shaft Disorders.

Rudnicka L, Olszewska M, Waśkiel A, Rakowska A.

Dermatol Clin. 2018 Oct;36(4):421-430. doi: 10.1016/j.det.2018.05.009. Epub 2018 Aug 16. Review.

PMID:
30201151
20.

Small molecule-based targeting of TTD-A dimerization to control TFIIH transcriptional activity represents a potential strategy for anticancer therapy.

Gervais V, Muller I, Mari PO, Mourcet A, Movellan KT, Ramos P, Marcoux J, Guillet V, Javaid S, Burlet-Schiltz O, Czaplicki G, Milon A, Giglia-Mari G.

J Biol Chem. 2018 Sep 28;293(39):14974-14988. doi: 10.1074/jbc.RA118.003444. Epub 2018 Aug 1.

Supplemental Content

Loading ...
Support Center