Cargando…

Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype

Trichothiodystrophy (TTD) is a rare multisystem disorder, characterized by sulfur deficient hair with alternating dark and light “tiger tail” banding on polarized light microscopy. TTD is caused by mutations in DNA repair/transcription genes XPD, XPB or TTDA, and in TTDN1, a gene of unknown function...

Descripción completa

Detalles Bibliográficos
Autores principales:	Heller, Elizabeth R., Khan, Sikandar G., Kuschal, Christiane, Tamura, Deborah, DiGiovanna, John J., Kraemer, Kenneth H.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2014
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4530629/ https://www.ncbi.nlm.nih.gov/pubmed/25290684 http://dx.doi.org/10.1038/jid.2014.440

Ejemplares similares

Four-dimensional, dynamic mosaicism is a hallmark of normal human skin that permits mapping of the organization and patterning of human epidermis during terminal differentiation
por: Wang, Yun, et al.
Publicado: (2018)

Pollitt syndrome patients carry mutation in TTDN1
por: Swagemakers, Sigrid M.A., et al.
Publicado: (2014)

Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers
por: Fernandez, Elvelyn R., et al.
Publicado: (2023)

Successful treatment of trichothiodystrophy with dupilumab
por: Gruber, R., et al.
Publicado: (2021)

Trichothiodystrophy: Role of a Dermato-Trchologist
por: Livani, Fatemeh, et al.
Publicado: (2013)

Variant subtype of xeroderma pigmentosum diagnosed in a 77-year-old woman
por: Armenta, Andrew M., et al.
Publicado: (2018)

A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom
por: Zhou, Yi-Kun, et al.
Publicado: (2018)

Rescue of Progeria in Trichothiodystrophy by Homozygous Lethal Xpd Alleles
por: Andressoo, Jaan-Olle, et al.
Publicado: (2006)

Trichothiodystrophy in a Child with Occult Learning Disorder
por: Oon, Hazel H, et al.
Publicado: (2013)

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP
por: Shah, Khadim, et al.
Publicado: (2016)

Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation
por: Kralund, Henrik H., et al.
Publicado: (2013)

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue
por: Theil, Arjan F, et al.
Publicado: (2017)

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy
por: Botta, Elena, et al.
Publicado: (2021)

Trichothiodystrophy without Associated Neuroectodermal Features in Two Siblings
por: Kaur, Jasleen, et al.
Publicado: (2018)

Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies
por: Lehky, Tanya J., et al.
Publicado: (2021)

SHINING A LIGHT ON XERODERMA PIGMENTOSUM
por: DiGiovanna, John J., et al.
Publicado: (2012)

Ribosomal Dysfunction Is a Common Pathomechanism in Different Forms of Trichothiodystrophy
por: Zhu, Gaojie, et al.
Publicado: (2023)

Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China
por: Chen, Jian-Dong, et al.
Publicado: (2021)

p8/TTDA Overexpression Enhances UV-Irradiation Resistance and Suppresses TFIIH Mutations in a Drosophila Trichothiodystrophy Model
por: Aguilar-Fuentes, Javier, et al.
Publicado: (2008)

Analysis of osteoarthritis in a mouse model of the progeroid human DNA repair syndrome trichothiodystrophy
por: Botter, Sander M., et al.
Publicado: (2010)

Dynamic Partnership between TFIIH, PGC-1α and SIRT1 Is Impaired in Trichothiodystrophy
por: Traboulsi, Hussein, et al.
Publicado: (2014)

Novel Association of Trichothiodystrophy with Autoimmune Thyroiditis and Autoimmune Hemolytic Anemia: A Case Report
por: Vyas, Harshita R., et al.
Publicado: (2023)

Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain
por: Clark, Nathaniel E., et al.
Publicado: (2023)

The X-linked trichothiodystrophy-causing gene RNF113A links the spliceosome to cell survival upon DNA damage
por: Shostak, Kateryna, et al.
Publicado: (2020)

Bone fragility and decline in stem cells in prematurely aging DNA repair deficient trichothiodystrophy mice
por: Diderich, Karin E. M., et al.
Publicado: (2011)

Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation
por: Theil, Arjan F, et al.
Publicado: (2023)

Age-Related Skeletal Dynamics and Decrease in Bone Strength in DNA Repair Deficient Male Trichothiodystrophy Mice
por: Nicolaije, Claudia, et al.
Publicado: (2012)

Case for diagnosis. Hair analysis in a child with delayed psychomotor development and fragile and brittle hair: Trichothiodystrophy()
por: López Riquelme, Irene, et al.
Publicado: (2023)

The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D)
por: Lai, Jin-Ping, et al.
Publicado: (2013)

Isolated Voice Tremor: A Clinical Variant of Essential Tremor or a Distinct Clinical Phenotype?
por: Barkmeier-Kraemer, Julie M.
Publicado: (2020)

Alignment of angular velocity sensors for a vestibular prosthesis
por: DiGiovanna, Jack, et al.
Publicado: (2012)

The Tandem Duplicator Phenotype Is a Prevalent Genome-Wide Cancer Configuration Driven by Distinct Gene Mutations
por: Menghi, Francesca, et al.
Publicado: (2018)

Functional assay for HER-2/neu demonstrates active signalling in a minority of HER-2/neu-overexpressing invasive human breast tumours.
por: DiGiovanna, M. P., et al.
Publicado: (1996)

WRN-Mutated Colorectal Cancer Is Characterized by a Distinct Genetic Phenotype
por: Zimmer, Kai, et al.
Publicado: (2020)

Phenotyping of Rare CFTR Mutations Reveals Distinct Trafficking and Functional Defects
por: Ensinck, Marjolein, et al.
Publicado: (2020)

Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype
por: Auer-Grumbach, Michaela, et al.
Publicado: (2013)

Neural Network Model of Vestibular Nuclei Reaction to Onset of Vestibular Prosthetic Stimulation
por: DiGiovanna, Jack, et al.
Publicado: (2016)

Diverse dystonin gene mutations cause distinct patterns of Dst isoform deficiency and phenotypic heterogeneity in Dystonia musculorum mice
por: Yoshioka, Nozomu, et al.
Publicado: (2020)

Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes
por: Ashton, James J., et al.
Publicado: (2020)

Biochemical Pathways Represented by Gene Ontology Causal Activity Models Identify Distinct Phenotypes Resulting from Mutations in Pathways
por: Hill, David P, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_4ggnsot3v1qtfl40t8aqcormu7