A5078973749- DNA Repair Mechanisms
- Carcinogens and Genotoxicity Assessment
- CRISPR and Genetic Engineering
- RNA regulation and disease
- RNA Research and Splicing
- Genetics and Neurodevelopmental Disorders
- Genomics and Chromatin Dynamics
- Fungal and yeast genetics research
- Heat shock proteins research
- RNA modifications and cancer
- Muscle Physiology and Disorders
- Chromosomal and Genetic Variations
- Skin and Cellular Biology Research
- Enzyme Structure and Function
- DNA and Nucleic Acid Chemistry
- Acute Lymphoblastic Leukemia research
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Skin Protection and Aging
- Genomics, phytochemicals, and oxidative stress
- bioluminescence and chemiluminescence research
- RNA and protein synthesis mechanisms
- Corneal Surgery and Treatments
- Mitochondrial Function and Pathology
- Epigenetics and DNA Methylation
- Porphyrin Metabolism and Disorders
Istituto di Genetica Molecolare
2008-2022
Jichi Medical University
2005
Medical Research Council
1997
National Research Council
1997
University of Pavia
1987
Significance Xeroderma pigmentosum (XP) is a genetic disorder caused by defective repair of DNA damage. Affected patients are mutated in one eight genes and develop skin pigmentation changes, cancers, ocular surface abnormalities, and, some cases, acute sunburn neurodegeneration. The XP proteins involved different steps the Examination 89 patients, largest reported cohort under long-term follow-up, same multidisciplinary team clinicians scientists has revealed unexpected clinical...
The xeroderma pigmentosum group D (XPD) protein has a dual function, both in nucleotide excision repair of DNA damage and basal transcription. Mutations the XPD gene can result three distinct clinical phenotypes, XP, trichothiodystrophy (TTD), XP with Cockayne syndrome. To determine if phenotypes TTD be attributed to sites mutations, we have identified mutations large XP-D patients. Most differed between TTD, but there are at which same mutation is found Since corresponding patients were all...
Background Cockayne syndrome (CS) is a rare, autosomal recessive multisystem disorder characterised by prenatal or postnatal growth failure, progressive neurological dysfunction, ocular and skeletal abnormalities premature ageing. About half of the patients with symptoms diagnostic for CS show cutaneous photosensitivity an abnormal cellular response to UV light due mutations in either ERCC8 / CSA ERCC6 CSB gene. Studies performed thus far have failed delineate clear genotype-phenotype...
Trichothiodystrophy (TTD) is a rare hereditary multisystem disorder associated with defects in nucleotide excision repair (NER) as consequence of mutations XPD, XPB or TTDA, three genes that are all related to TFIIH, the multiprotein complex involved NER and transcription. Here we show found TTD cases, irrespective whether they homozygotes, hemizygotes compound heterozygotes, cause substantial specific reduction (by up 70%) cellular concentration TFIIH. Intriguingly, degree level TFIIH does...
Journal Article Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy Get access Miria Stefanini, Stefanini Search for other works by this author on: Oxford Academic PubMed Google Scholar Paola Lagomarsini, Lagomarsini Silvia Giliani, Giliani Tiziana Nardo, Nardo Elena Botta, Botta Andrea Peserico, Peserico 1Clinica Dermatologica, Universitè di PadovaItaly Wim J. Kleijer, Kleijer 2Department Clinical Genetics, Erasmus UniversityRotterdam, The Netherlands...
Xeroderma pigmentosum (XP) is a skin cancer-prone autosomal recessive disease characterized by inability to repair UV-induced DNA damage. The major form of XP defective in nucleotide excision (NER) and comprises seven complementation groups (A-G). genes all have been identified unambiguously with the exception group E. cells some XP-E patients are deficient protein complex (consisting two subunits: p127/DDBI p48/DDB2) which binds UV-damaged (UV-DDB) specifically involved removal...
Trichothiodystrophy (TTD) is a group of rare autosomal recessive disorders that variably affect wide range organs derived from the neuroectoderm. The key diagnostic feature sparse, brittle, sulfur deficient hair has 'tiger-tail' banding pattern under polarising light microscopy.We describe two male cousins affected by TTD associated with microcephaly, profound intellectual disability, sparse brittle hair, aged appearance, short stature, facial dysmorphism, seizures, an immunoglobulin...
Trichothiodystrophy (TTD) is a rare hereditary neurodevelopmental disorder defined by sulfur-deficient brittle hair and nails scaly skin, but with otherwise remarkably variable clinical features. The photosensitive TTD (PS-TTD) forms exhibits in addition to progressive neuropathy other features of segmental accelerated aging associated impaired genome maintenance transcription. New factors involved various steps gene expression have been identified for the different non-photosensitive...
Defects in the XPD gene can result several clinical phenotypes, including xeroderma pigmentosum (XP), trichothiodystrophy, and, less frequently, combined phenotype of XP and Cockayne syndrome (XP-D/CS). We previously showed that cells from two XP-D/CS patients, breaks were introduced into cellular DNA on exposure to UV damage, but these not at sites damage. In present work, we show three further patients same peculiar breakage phenomenon. be visualized inside by immunofluorescence using...
Trichothiodystrophy (TTD) is a rare autosomal recessive disorder whose defining feature brittle hair. Associated clinical symptoms include physical and mental retardation of different severity, ichthyosis, premature aging, and, in half the patients, photosensitivity. Recently, C7orf11 (TTDN1) was identified as first disease gene for nonphotosensitive form TTD, being mutated two unrelated cases an Amish kindred. We have evaluated involvement TTDN1 44 TTD geographic origin with severity....
Trichothiodystrophy (TTD) is a rare, autosomal recessive neurodevelopmental disorder most commonly caused by mutations in ERCC2 (XPD), gene that encodes subunit of the transcription/repair factor IIH (TFIIH). Here, we describe two TTD cases which detailed biochemical and molecular investigations offered clue to explain their moderately affected phenotype. Patient TTD22PV showed new mutated XPD alleles: one contains nonsense mutation (c.1984C>T) encoding nonfunctional truncated product...
Mutations in the XPD subunit of transcription/DNA repair factor (TFIIH) give rise to trichothiodystrophy (TTD), a rare hereditary multisystem disorder with skin abnormalities. Here, we show that TTD primary dermal fibroblasts contain low amounts collagen type VI alpha1 (COL6A1), fundamental component soft connective tissues. We demonstrate COL6A1 expression is downregulated by sterol regulatory element-binding protein-1 (SREBP-1) whose removal from promoter key step transcription...