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trichothiodystrophy相关文献:
Trichothiodystrophy.
Garon L, Kokta V, Coulombe J.
JAMA Dermatol. 2023 Aug 1;159(8):877. doi: 10.1001/jamadermatol.2023.0913.
PMID:37342013
Trichothiodystrophy: update.
Price VH.
Pediatr Dermatol. 1992 Dec;9(4):369-70. doi: 10.1111/j.1525-1470.1992.tb00633.x.
PMID:1492061
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 8;15(11):e17973. doi: 10.15252/emmm.202317973. Epub 2023 Oct 6.
PMID:37800682
[Trichothiodystrophy].
Makita Y.
Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):759-60.
PMID:11529010
Trichothiodystrophy, a transcription syndrome.
Bergmann E, Egly JM.
Trends Genet. 2001 May;17(5):279-86. doi: 10.1016/s0168-9525(01)02280-6.
PMID:11335038
Trichothiodystrophy: Molecular insights and mechanisms of pathogenicity.
Lanzafame M, Brevi F, Veniali G, Botta E.
Mutat Res Rev Mutat Res. 2025 Jul 29;796:108555. doi: 10.1016/j.mrrev.2025.108555. Online ahead of print.
PMID:40737808
Trichothiodystrophy, playing with optical microscope.
Gómez Moyano E, Llamas Carmona JA, López Riquelme I, Martínez Pilar L.
An Pediatr (Engl Ed). 2024 Nov;101(5):360. doi: 10.1016/j.anpede.2024.10.009. Epub 2024 Oct 29.
PMID:39477703
Trichothiodystrophy hair shafts display distinct ultrastructural features.
Ioannidis AD, Khan SG, Tamura D, DiGiovanna JJ, Rizza E, Kraemer KH, Rice RH.
Exp Dermatol. 2022 Aug;31(8):1270-1275. doi: 10.1111/exd.14614. Epub 2022 Jun 13.
PMID:35615778
Trichothiodystrophy: from basic mechanisms to clinical implications.
Stefanini M, Botta E, Lanzafame M, Orioli D.
DNA Repair (Amst). 2010 Jan 2;9(1):2-10. doi: 10.1016/j.dnarep.2009.10.005.
PMID:19931493
Ocular features in trichothiodystrophy.
Balaji A, Bari A, Sharma N, Agarwal T.
BMJ Case Rep. 2024 Dec 22;17(12):e262504. doi: 10.1136/bcr-2024-262504.
PMID:39950660
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