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Quoted phrase not found in phrase index: "Trichothiodystrophy 1, photosensitive"
Page 1
Trichoscopy in Hair Shaft Disorders.
Rudnicka L, Olszewska M, Waśkiel A, Rakowska A. Rudnicka L, et al. Dermatol Clin. 2018 Oct;36(4):421-430. doi: 10.1016/j.det.2018.05.009. Epub 2018 Aug 16. Dermatol Clin. 2018. PMID: 30201151 Review.
In trichorrhexis nodosa nodular thickenings along hairs shafts are visible (low magnification) or splitting into numerous small fibers along the hair shaft may be observed (high magnification). In trichorrhexis invaginata (bamboo hair) the hair shaft telescopes into itself …
In trichorrhexis nodosa nodular thickenings along hairs shafts are visible (low magnification) or splitting into numerous small fibers along …
Hair loss in children.
Alves R, Grimalt R. Alves R, et al. Curr Probl Dermatol. 2015;47:55-66. doi: 10.1159/000369405. Epub 2015 Feb 20. Curr Probl Dermatol. 2015. PMID: 26370644 Review.
To fully understand hair loss during childhood, a basic comprehension of normal hair growth is necessary. Knowledge of the normal range and variation observed in the hair of children further enhances its assessment. This chapter has been written in an attempt to facilitate …
To fully understand hair loss during childhood, a basic comprehension of normal hair growth is necessary. Knowledge of the normal range and …
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. Theil AF, et al. EMBO Mol Med. 2023 Nov 8;15(11):e17973. doi: 10.15252/emmm.202317973. Epub 2023 Oct 6. EMBO Mol Med. 2023. PMID: 37800682 Free PMC article.
The brittle hair syndrome Trichothiodystrophy (TTD) is characterized by variable clinical features, including photosensitivity, ichthyosis, growth retardation, microcephaly, intellectual disability, hypogonadism, and anaemia. ...MPLKIP-deficient primary fibroblasts have re …
The brittle hair syndrome Trichothiodystrophy (TTD) is characterized by variable clinical features, including photosensitivity, ichth …
Facial clues to the photosensitive trichothiodystrophy phenotype in childhood.
Pascolini G, Gaudioso F, Baldi M, Alario D, Dituri F, Novelli A, Baban A. Pascolini G, et al. J Hum Genet. 2023 Jun;68(6):437-443. doi: 10.1038/s10038-023-01134-4. Epub 2023 Feb 22. J Hum Genet. 2023. PMID: 36810639
The pictures were compared to age and sex-matched to unaffected controls using 2 distinct deep-learning algorithms: DeepGestalt and GestaltMatcher (Face2Gene, FDNA Inc., USA). To give further support to the observed results, a careful clinical revision was undertaken for e …
The pictures were compared to age and sex-matched to unaffected controls using 2 distinct deep-learning algorithms: DeepGestalt and GestaltM …
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. Botta E, et al. Hum Mol Genet. 2021 Aug 28;30(18):1711-1720. doi: 10.1093/hmg/ddab123. Hum Mol Genet. 2021. PMID: 33909043 Free PMC article.
Trichothiodystrophy (TTD) is a rare hereditary neurodevelopmental disorder defined by sulfur-deficient brittle hair and nails and scaly skin, but with otherwise remarkably variable clinical features. ...These variants result in the instability of the respective gene produc …
Trichothiodystrophy (TTD) is a rare hereditary neurodevelopmental disorder defined by sulfur-deficient brittle hair and nails and sca …
Drosophila as a Model Organism to Understand the Effects during Development of TFIIH-Related Human Diseases.
Zurita M, Murillo-Maldonado JM. Zurita M, et al. Int J Mol Sci. 2020 Jan 17;21(2):630. doi: 10.3390/ijms21020630. Int J Mol Sci. 2020. PMID: 31963603 Free PMC article. Review.
Human mutations in the transcription and nucleotide excision repair (NER) factor TFIIH are linked with three human syndromes: xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS). In particular, different mutations in the XPB, XPD and p8 …
Human mutations in the transcription and nucleotide excision repair (NER) factor TFIIH are linked with three human syndromes: xeroder …
DNA helicases in inherited human disorders.
Ellis NA. Ellis NA. Curr Opin Genet Dev. 1997 Jun;7(3):354-63. doi: 10.1016/s0959-437x(97)80149-9. Curr Opin Genet Dev. 1997. PMID: 9229111 Review.
Six known or predicted helicases that are mutated in human syndromes are now recognized. These syndromes include xeroderma pigmentosum, Cockayne's syndrome, trichothiodystrophy, Bloom's syndrome, Werner's syndrome, and alpha-thalassemia mental retardat …
Six known or predicted helicases that are mutated in human syndromes are now recognized. These syndromes include xerode …
TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin.
Arseni L, Lanzafame M, Compe E, Fortugno P, Afonso-Barroso A, Peverali FA, Lehmann AR, Zambruno G, Egly JM, Stefanini M, Orioli D. Arseni L, et al. Proc Natl Acad Sci U S A. 2015 Feb 3;112(5):1499-504. doi: 10.1073/pnas.1416181112. Epub 2015 Jan 20. Proc Natl Acad Sci U S A. 2015. PMID: 25605938 Free PMC article.
Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result in distinct clinical entities, including the cancer-prone xeroderma pigmentosum (XP) and the multisystem disorder trichothiodystrophy (TTD), which share only cutaneous photosensitivity. Gene-e …
Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result in distinct clinical entities, including the cancer-prone x …
Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.
Itin PH, Sarasin A, Pittelkow MR. Itin PH, et al. J Am Acad Dermatol. 2001 Jun;44(6):891-920; quiz 921-4. doi: 10.1067/mjd.2001.114294. J Am Acad Dermatol. 2001. PMID: 11369901 Review.
Trichothiodystrophy (TTD) refers to a heterogeneous group of autosomal recessive disorders that share the distinctive features of short, brittle hair and an abnormally low sulfur content. Within the spectrum of the TTD syndromes are numerous interrelated neuroectode …
Trichothiodystrophy (TTD) refers to a heterogeneous group of autosomal recessive disorders that share the distinctive features of sho …
Trichothiodystrophy causative TFIIEbeta 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. Theil AF, et al. Hum Mol Genet. 2017 Dec 1;26(23):4689-4698. doi: 10.1093/hmg/ddx351. Hum Mol Genet. 2017. PMID: 28973399 Free PMC article.
The rare recessive developmental disorder Trichothiodystrophy (TTD) is characterized by brittle hair and nails. Patients also present a variable set of poorly explained additional clinical features, including ichthyosis, impaired intelligence, developmental delay and anemi …
The rare recessive developmental disorder Trichothiodystrophy (TTD) is characterized by brittle hair and nails. Patients also present …
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