• <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 mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred
• A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy
• A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
• A rare ocular manifestation of trichothiodystrophy: Focal retinal dystrophy
• A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair
• 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
• Advance in research on causative genes of xeroderma pigmentosum and related diseases
• Analysis of Drosophila p8 and p52 mutants reveals distinct roles for the maintenance of TFIIH stability and male germ cell differentiation
• Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype
• Breaking the cycle of hair breakage: pearls for the management of acquired trichorrhexis nodosa
• Brittle Hair, Photosensitivity, Brain Hypomyelination and Immunodeficiency: Clues to Trichothiodystrophy
• Case for diagnosis. Hair analysis in a child with delayed psychomotor development and fragile and brittle hair: Trichothiodystrophy
• Chromosome Instability Syndromes
• Chromosome Instability Syndromes
• Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis
• Developmental Delays, Fragile Hair, and Ichthyosis Since Infancy
• DNA Repair Dysfunction and Neurodegeneration: Lessons From Rare Pediatric Disorders
• Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs
• 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
• Ethnic hair disorders
• Evaluation of immunological abnormalities in patients with rare syndromes
• Expanding the phenotype of GTF2E2-associated trichothiodystrophy
• Facial clues to the photosensitive trichothiodystrophy phenotype in childhood
• Genetic Hair Disorders: A Review
• Genome Instability in Development and Aging: Insights from Nucleotide Excision Repair in Humans, Mice, and Worms
• Glomerular hair sign: New trichoscopic finding in a patient with trichothiodystrophy
• GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy
• Hair abnormality in Netherton syndrome observed under polarized light microscopy
• Hair loss in children
• Hair Loss: Common Causes and Treatment
• Heterogeneity and overlaps in nucleotide excision repair disorders
• Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency
• Impaired B-cell function in <em>ERCC2</em> deficiency
• Inherited ichthyosis: Syndromic forms
• Male fertility and skin diseases
• Metronidazole-Induced Hepatitis in a Teenager With Xeroderma Pigmentosum and Trichothiodystrophy Overlap
• Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP
• Molecular regulation of UV-induced DNA repair
• 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
• Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features
• 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 TFIIE plays a role in ribosomal biogenesis and performance
• Nucleotide Excision Repair and Transcriptional Regulation: TFIIH and Beyond
• Nucleotide excision repair genes shaping embryonic development
• Ocular manifestations of genetic skin disorders
• Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene
• PIBIDS syndrome in two Brazilian siblings
• Polarized transilluminating dermoscopy: Bedside trichoscopic diagnosis of trichothiodystrophy
• 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
• 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
• Short stature with congenital ichthyosis
• Signaling Pathways, Chemical and Biological Modulators of Nucleotide Excision Repair: The Faithful Shield against UV Genotoxicity
• Solving the Riddle of Developmental Delay with Hair Microscopy: Trichothiodystrophy (MPLKIP Mutation in an Indian Child)
• Successful treatment of trichothiodystrophy with dupilumab
• Targeted Apoptosis of Senescent Cells Restores Tissue Homeostasis in Response to Chemotoxicity and Aging
• 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 subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription
• TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin
• 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 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 X-linked trichothiodystrophy-causing gene RNF113A links the spliceosome to cell survival upon DNA damage
• Trichorrhexis nodosa due to repetitive trivial trauma
• Trichorrhexis nodosa: a distinctive presentation after tumour necrosis factor-α inhibitor therapy
• 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 causative TFIIEβ mutation affects transcription in highly differentiated tissue
• Trichothiodystrophy hair shafts display distinct ultrastructural features
• Trichothiodystrophy type 4 in an Indian family
• Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation
• Trichothiodystrophy, complementation group A complicated with squamous cell carcinoma
• Trichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease
• Tufted hair at birth: A previously undescribed peculiar sign of trichothiodystrophy
• Understanding photodermatoses associated with defective DNA repair: Photosensitive syndromes without associated cancer predisposition
• Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities
• Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation
• XPB: An unconventional SF2 DNA helicase