• <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 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
• Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD_ND ): 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
• Effect of RNF113A deficiency on oxidative stress-induced NRF2 pathway
• 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
• Impaired B-cell function in <em>ERCC2</em> deficiency
• 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 I₂ 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
• Sequential post-translational modifications regulate damaged DNA-binding protein DDB2 function
• 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 face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population
• The First Reported Case of Trichothiodystrophy in Hungary: A Young Male Patient with Mutations in the ERCC2 Gene
• 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 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