Disease: Trichothiodystrophy
- <em>Drosophila</em> as a Model Organism to Understand the Effects during Development of TFIIH-Related Human Diseases
- A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report
- A functional link between lariat debranching enzyme and the intron-binding complex is defective in non-photosensitive trichothiodystrophy
- A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom
- A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4
- A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy
- A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3
- A rare ocular manifestation of trichothiodystrophy: Focal retinal dystrophy
- A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair
- A Young Boy with Brittle Hair
- Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia
- Acquired trichorrhexis nodosa: how to diagnose it?
- Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain
- Actual state of knowledge in the field of diseases related with defective nucleotide excision repair
- Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD<sub>ND</sub> ): Time to Move Beyond the Skin
- Age or lifestyle-induced accumulation of genotoxicity is associated with a length-dependent decrease in gene expression
- Analysis of the Oral Microbiome in a Patient with Cardiofaciocutaneous Syndrome and Severe Periodontal Disease: Impact of Systemic Antibiotic Therapy
- Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype
- C. elegans TFIIH subunit GTF-2H5/TTDA is a non-essential transcription factor indispensable for DNA repair
- Case for diagnosis. Hair analysis in a child with delayed psychomotor development and fragile and brittle hair: Trichothiodystrophy
- Case report: Identification of a novel heterozygous germline <em>ERCC2</em> mutation in a patient with dermatofibrosarcoma protuberans
- Chromosome Instability Syndromes
- Chromosome Instability Syndromes
- Congenital Ichthyosis: Current Approaches to Prenatal Diagnoses
- Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis
- Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs
- Dupilumab treatment of trichothiodystrophy in a child
- Dysregulation of LXR responsive genes contribute to ichthyosis in trichothiodystrophy
- ERCC2 mutations in two siblings with a severe trichothiodystrophy phenotype
- Establishment of a human induced pluripotent stem cell line, KMUGMCi003-A, from a patient with trichothiodystrophy 1 (TTD1) bearing compound heterozygous missense mutations in the ERCC2 gene
- Evaluation of immunological abnormalities in patients with rare syndromes
- Every protagonist has a sidekick: Structural aspects of human xeroderma pigmentosum-binding proteins in nucleotide excision repair
- Expanding the phenotype of GTF2E2-associated trichothiodystrophy
- Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene
- Facial clues to the photosensitive trichothiodystrophy phenotype in childhood
- Generation of site-specifically labelled fluorescent human XPA to investigate DNA binding dynamics during nucleotide excision repair
- Genetic Hair Disorders: A Review
- Glomerular hair sign: New trichoscopic finding in a patient with trichothiodystrophy
- Hair abnormality in Netherton syndrome observed under polarized light microscopy
- Hair follicle dystrophy in a litter of domestic cats resembling lanceolate hair mutant mice
- Heterogeneity and overlaps in nucleotide excision repair disorders
- hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers
- Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients
- Intersections between transcription-coupled repair and alkylation damage reversal
- Malar rash in a young child with neurodevelopmental delay: a quiz
- Mechanical anisotropy of hair affected by genetic diseases highlights structural information related to differential crosslinking in keratins
- Metronidazole-Induced Hepatitis in a Teenager With Xeroderma Pigmentosum and Trichothiodystrophy Overlap
- Mortality-associated immunological abnormalities in trichothiodystrophy: correlation of reduced levels of immunoglobulin and neutrophils with poor patient survival
- Mutation in the ERCC2 gene identified in a Chinese trichothiodystrophy patient
- Novel Association of Trichothiodystrophy with Autoimmune Thyroiditis and Autoimmune Hemolytic Anemia: A Case Report
- Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3
- Novel ERCC2 mutation in two siblings with trichothiodystrophy
- Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China
- Nucleolar and Ribosomal Dysfunction-A Common Pathomechanism in Childhood Progerias?
- Nucleolar TFIIE plays a role in ribosomal biogenesis and performance
- Nucleotide excision repair genes shaping embryonic development
- Peripheral neuropathies associated with DNA repair disorders
- Photosensitivity
- Photosensitivity
- PIBIDS syndrome in two Brazilian siblings
- Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy
- Reduced levels of prostaglandin I(2) synthase: a distinctive feature of the cancer-free trichothiodystrophy
- Reduced levels of prostaglandin I<sub>2</sub> synthase: a distinctive feature of the cancer-free trichothiodystrophy
- Ribosomal Dysfunction Is a Common Pathomechanism in Different Forms of Trichothiodystrophy
- RNF113A targeted by miR-197 promotes proliferation and inhibits autophagy via CXCR4/CXCL12/AKT/ERK/Beclin1 axis in cervical cancer
- Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder
- Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant
- Signaling Pathways, Chemical and Biological Modulators of Nucleotide Excision Repair: The Faithful Shield against UV Genotoxicity
- Small molecule-based targeting of TTD-A dimerization to control TFIIH transcriptional activity represents a potential strategy for anticancer therapy
- Solar UV damage to cellular DNA: from mechanisms to biological effects
- Solving the Riddle of Developmental Delay with Hair Microscopy: Trichothiodystrophy (MPLKIP Mutation in an Indian Child)
- Structural Basis for S100B Interaction with its Target Proteins
- Successful treatment of trichothiodystrophy with dupilumab
- TFIIE orchestrates the recruitment of the TFIIH kinase module at promoter before release during transcription
- TFIIH central activity in nucleotide excision repair to prevent disease
- TFIIH mutations can impact on translational fidelity of the ribosome
- TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy
- TFIIH: A multi-subunit complex at the cross-roads of transcription and DNA repair
- The First Reported Case of Trichothiodystrophy in Hungary: A Young Male Patient with Mutations in the ERCC2 Gene
- The intricate network between the p34 and p44 subunits is central to the activity of the transcription/DNA repair factor TFIIH
- The Multifaceted Syndromic Primary Immunodeficiencies in Children
- The Neurodevelopmental Disorders Associated Gene Rnf113a Regulates Survival and Differentiation Properties of Neural Stem Cells
- The nucleotide excision repair proteins through the lens of molecular dynamics simulations
- The Role of TFIIH Complex in Nucleotide Excision Repair
- The role of Transcription Factor IIH complex in nucleotide excision repair
- The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome
- The X-linked trichothiodystrophy-causing gene RNF113A links the spliceosome to cell survival upon DNA damage
- Transcription preinitiation complex structure and dynamics provide insight into genetic diseases
- Trichoscopy in Hair Shaft Disorders
- Trichothiodystrophy
- Trichothiodystrophy and Chiari malformation type I in a child: more than a coincidence?
- Trichothiodystrophy causative TFIIEbeta mutation affects transcription in highly differentiated tissue
- Trichothiodystrophy hair shafts display distinct ultrastructural features
- Trichothiodystrophy type 4 in an Indian family
- Trichothiodystrophy without Associated Neuroectodermal Features in Two Siblings
- Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation
- Trichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease
- TTDA inhibited apoptosis by regulating the p53-Bax/Bcl2 axis in glioma
- Tufted hair at birth: A previously undescribed peculiar sign of trichothiodystrophy
- XPD/ERCC2 mutations interfere in cellular responses to oxidative stress