A5009127298- DNA Repair Mechanisms
- Carcinogens and Genotoxicity Assessment
- RNA regulation and disease
- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Porphyrin Metabolism and Disorders
- Genetic factors in colorectal cancer
- Hair Growth and Disorders
- Genetic Neurodegenerative Diseases
- Genomics and Chromatin Dynamics
- Nuclear Structure and Function
- Herpesvirus Infections and Treatments
- Telomeres, Telomerase, and Senescence
- Connexins and lens biology
- Genetics and Neurodevelopmental Disorders
- Molecular Biology Techniques and Applications
- melanin and skin pigmentation
- Folate and B Vitamins Research
- CRISPR and Genetic Engineering
- Genetic and rare skin diseases.
- Nonmelanoma Skin Cancer Studies
- Eosinophilic Disorders and Syndromes
- Prion Diseases and Protein Misfolding
- Neurological diseases and metabolism
- Cutaneous lymphoproliferative disorders research
National Cancer Institute
2014-2024
National Institutes of Health
2010-2024
Center for Cancer Research
2013-2024
Cancer Genetics (United States)
2021-2023
United States Department of Health and Human Services
2009
<h3>Background</h3> The frequency of cancer, neurologic degeneration and mortality in xeroderma pigmentosum (XP) patients with defective DNA repair was determined a four decade natural history study. <h3>Methods</h3> All 106 XP admitted to the National Institutes Health from 1971 2009 were evaluated clinical records follow-up. <h3>Results</h3> In 65 per cent (n=69) skin non-melanoma cancer (NMSC) increased 10 000-fold melanoma 2000-fold under age 20. 9 year median at diagnosis first (n=64)...
Patients with xeroderma pigmentosum (XP) have a 1,000-fold increase in ultraviolet (UV)-induced skin cancers while trichothiodystrophy (TTD) patients, despite mutations the same genes, ERCC2 (XPD) or ERCC3 (XPB), are cancer-free. Unlike XP cells, TTD cells nearly normal rate of removal UV-induced 6-4 photoproducts (6-4PP) their DNA and low levels basal transcription factor, TFIIH. We examined seven XP, TTD, XP/TTD complex patients identified XPD gene. discovered large differences nucleotide...
To assess the role of DNA repair in maintenance hearing function and neurological integrity, we examined status, function, complementation group history acute burning on minimal sun exposure all patients with xeroderma pigmentosum, who had at least one complete audiogram, National Institutes Health from 1971 to 2012. Seventy-nine patients, aged 1-61 years, were diagnosed pigmentosum (n = 77) or pigmentosum/Cockayne syndrome 2). A total 178 audiograms included. Clinically significant loss...
Abstract Background To investigate the association of DNA nucleotide excision repair (NER) defects with neurological degeneration, cachexia and cancer, we performed autopsies on 4 adult xeroderma pigmentosum (XP) patients different clinical features in NER complementation groups XP-A, XP-C or XP-D. Results The XP-A (XP12BE) XP-D (XP18BE) exhibited progressive deterioration sensorineural hearing loss. spectrum encompassed severe patient, numerous skin cancers two (XP24BE XP1BE) only few...
The effects of DNA repair and transcription gene abnormalities in human pre-natal life have never been studied. Trichothiodystrophy (TTD) is a rare (affected frequency 10(-6)) recessive disorder caused by mutations genes involved nucleotide excision (NER) pathway transcription. Based on our novel clinical observations, we conducted genetic epidemiologic study to investigate gestational outcomes associated with TTD. We compared pregnancies resulting TTD-affected offspring (n = 24) respect...
Abstract Objective To identify the frequency of pregnancy and neonatal complications in pregnancies carrying fetuses affected with trichothiodystrophy (TTD). Methods We identified serum screening results from mothers TTD patients a DNA repair diseases study 2001 to 2011. Results Pregnancy reports 27 their 23 were evaluated 81% had complications: 56% preterm delivery, 30% preeclampsia, 19% placental abnormalities, 11% HELLP syndrome, 4% an emergency c‐section for fetal distress, while 44% two...
Introduction Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by mutations resulting in defective repair of DNA damage. XP patients have markedly increased risk ultraviolet-induced neoplasms and premature aging sun-exposed tissue. Approximately 25% the United States neurologic abnormalities including progressive sensorineural hearing loss (SNHL). Objective To describe temporal bone histopathology 2 individuals with (XPA XPD) degeneration to discuss possible causes...
Predisposition to hematologic malignancies in patients with xeroderma pigmentosum
<h3>Background</h3> Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by decreased ability to repair DNA damaged UV radiation and the early development of cutaneous ocular malignant neoplasms. Approximately 20% patients with XP also develop progressive neurologic degeneration. <h3>Observations</h3> We describe boy who was found have after severe burn following minimal sun exposure. His maternal uncle, now age 20 years, had been diagnosed similar sunburn in...