Published in Mutat Res on June 21, 2008
Rothmund-Thomson syndrome. Orphanet J Rare Dis (2010) 2.49
The mutation spectrum in RECQL4 diseases. Eur J Hum Genet (2008) 1.61
Roles of RECQ helicases in recombination based DNA repair, genomic stability and aging. Biogerontology (2008) 1.34
Direct and indirect roles of RECQL4 in modulating base excision repair capacity. Hum Mol Genet (2009) 1.18
The involvement of human RECQL4 in DNA double-strand break repair. Aging Cell (2010) 1.15
RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance. J Biol Chem (2011) 1.04
dRecQ4 is required for DNA synthesis and essential for cell proliferation in Drosophila. PLoS One (2009) 0.92
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype. Eur J Hum Genet (2014) 0.89
RecQ4: the second replicative helicase? Crit Rev Biochem Mol Biol (2010) 0.88
Activation of p38 MAP kinase and stress signalling in fibroblasts from the progeroid Rothmund-Thomson syndrome. Age (Dordr) (2012) 0.81
Drosophila RecQ4 is directly involved in both DNA replication and the response to UV damage in S2 cells. PLoS One (2012) 0.77
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. Mol Genet Genomic Med (2016) 0.75
Yeast Hrq1 shares structural and functional homology with the disease-linked human RecQ4 helicase. Nucleic Acids Res (2017) 0.75
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science (2011) 6.19
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med (2010) 3.98
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med (2011) 3.63
ERCC1 codon 118 polymorphism is a predictive factor for the tumor response to oxaliplatin/5-fluorouracil combination chemotherapy in patients with advanced colorectal cancer. Clin Cancer Res (2005) 3.44
Gene expression profiling of primary cutaneous melanoma and clinical outcome. J Natl Cancer Inst (2006) 3.17
Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. J Invest Dermatol (2009) 2.94
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med (2011) 2.93
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol (2010) 2.87
UV irradiation triggers ubiquitin-dependent degradation of p21(WAF1) to promote DNA repair. Cell (2003) 2.41
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol (2013) 2.36
Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol (2003) 2.29
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med (2006) 2.18
Skin markers of occult spinal dysraphism in children: a review of 54 cases. Arch Dermatol (2004) 2.16
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. Blood (2003) 2.11
Transcription-coupled nucleotide excision repair as a determinant of cisplatin sensitivity of human cells. Cancer Res (2002) 2.09
TP53 mutations in human skin cancers. Hum Mutat (2003) 2.07
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair (Amst) (2008) 2.02
Cutaneous hematologic disorders in children. Pediatr Blood Cancer (2011) 1.95
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest (2003) 1.92
The role of UV induced lesions in skin carcinogenesis: an overview of oncogene and tumor suppressor gene modifications in xeroderma pigmentosum skin tumors. Mutat Res (2005) 1.86
Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum (2010) 1.75
Efficacy and safety of tacrolimus ointment compared with that of hydrocortisone acetate ointment in children with atopic dermatitis. J Allergy Clin Immunol (2002) 1.71
ERCC2/XPD gene polymorphisms and cancer risk. Mutagenesis (2002) 1.65
Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients. Proc Natl Acad Sci U S A (2002) 1.63
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. J Invest Dermatol (2010) 1.61
DNA polymerase eta is involved in hypermutation occurring during immunoglobulin class switch recombination. J Exp Med (2004) 1.59
Presence of chimeric maternally derived keratinocytes in cutaneous inflammatory diseases of children: the example of pityriasis lichenoides. J Invest Dermatol (2006) 1.58
DNA repair: from molecular mechanism to human disease. DNA Repair (Amst) (2006) 1.56
Role of DNA polymerase eta in the UV mutation spectrum in human cells. J Biol Chem (2003) 1.53
Skin tumors induced by sorafenib; paradoxic RAS-RAF pathway activation and oncogenic mutations of HRAS, TP53, and TGFBR1. Clin Cancer Res (2011) 1.52
XPD mutations prevent TFIIH-dependent transactivation by nuclear receptors and phosphorylation of RARalpha. Cell (2002) 1.51
Replication and homologous recombination repair regulate DNA double-strand break formation by the antitumor alkylator ecteinascidin 743. Proc Natl Acad Sci U S A (2007) 1.43
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol (2002) 1.42
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat (2011) 1.42
ERCC2 /XPD gene polymorphisms and lung cancer: a HuGE review. Am J Epidemiol (2005) 1.41
Role of DNA polymerases eta, iota and zeta in UV resistance and UV-induced mutagenesis in a human cell line. DNA Repair (Amst) (2008) 1.40
DNA repair gene XRCC2 and XRCC3 polymorphisms and susceptibility to cancers of the upper aerodigestive tract. Int J Cancer (2004) 1.37
The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet (2002) 1.36
Clinical spectrum of tufted angiomas in childhood: a report of 13 cases and a review of the literature. Arch Dermatol (2010) 1.35
Haemangioma family burden: creation of a specific questionnaire. Acta Derm Venereol (2015) 1.34
Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. Medicine (Baltimore) (2012) 1.31
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet (2009) 1.31
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations. Hum Mutat (2008) 1.31
Human DNA polymerase iota protects cells against oxidative stress. EMBO J (2008) 1.31
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. Carcinogenesis (2005) 1.30
Long-term management of atopic dermatitis in infants with topical pimecrolimus, a nonsteroid anti-inflammatory drug. J Allergy Clin Immunol (2002) 1.29
Polymorphism discovery in 62 DNA repair genes and haplotype associations with risks for lung and head and neck cancers. Carcinogenesis (2007) 1.27
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. Proc Natl Acad Sci U S A (2009) 1.26
Efficacy and safety of pimecrolimus cream in the long-term management of atopic dermatitis in children. Pediatrics (2002) 1.22
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics (2002) 1.21
Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome. J Invest Dermatol (2006) 1.20
The DNA repair genes XPB and XPD defend cells from retroviral infection. Proc Natl Acad Sci U S A (2006) 1.18
Ocular manifestations in the inherited DNA repair disorders. Surv Ophthalmol (2003) 1.16
Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome. Eur J Hum Genet (2008) 1.12
Cutaneous adverse events in renal transplant recipients receiving sirolimus-based therapy. Transplantation (2005) 1.11
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. Eur J Med Genet (2007) 1.11
LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome. Hum Mol Genet (2003) 1.10
Transcription through 8-oxoguanine in DNA repair-proficient and Csb(-)/Ogg1(-) DNA repair-deficient mouse embryonic fibroblasts is dependent upon promoter strength and sequence context. Mutagenesis (2007) 1.08
Global genome repair is required to activate KIN17, a UVC-responsive gene involved in DNA replication. Proc Natl Acad Sci U S A (2003) 1.07
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. Hum Mutat (2013) 1.07
Hypothetical role of RNA damage avoidance in preventing human disease. Mutat Res (2005) 1.05
Irofulven cytotoxicity depends on transcription-coupled nucleotide excision repair and is correlated with XPG expression in solid tumor cells. Clin Cancer Res (2004) 1.05
Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa. Orphanet J Rare Dis (2014) 1.05
Lung cancer and DNA repair genes: multilevel association analysis from the International Lung Cancer Consortium. Carcinogenesis (2012) 1.05
Syndromic (phenotypic) diarrhea in early infancy. Orphanet J Rare Dis (2008) 1.05
Analysis of skin cancer risk factors in immunosuppressed renal transplant patients shows high levels of UV-specific tandem CC to TT mutations of the p53 gene. Carcinogenesis (2006) 1.04
Long-term treatment of atopic dermatitis with pimecrolimus cream 1% in infants does not interfere with the development of protective antibodies after vaccination. J Am Acad Dermatol (2005) 1.03
A clinical, histologic, and molecular study of 9 cases of congenital dermatofibrosarcoma protuberans. Arch Dermatol (2007) 1.03
Neonatal erythroderma. Curr Opin Pediatr (2010) 1.03
Efficacy of propranolol in hepatic infantile hemangiomas with diffuse neonatal hemangiomatosis. J Pediatr (2010) 1.03
Trabectedin and its C subunit modified analogue PM01183 attenuate nucleotide excision repair and show activity toward platinum-resistant cells. Mol Cancer Ther (2011) 1.02
Development of new EBV-based vectors for stable expression of small interfering RNA to mimick human syndromes: application to NER gene silencing. Mol Cancer Res (2005) 1.02
Transcriptional mutagenesis induced by 8-oxoguanine in mammalian cells. PLoS Genet (2009) 1.00
Gene expression signature associated with BRAF mutations in human primary cutaneous melanomas. Mol Oncol (2008) 1.00
NEMO mutations in 2 unrelated boys with severe infections and conical teeth. Pediatrics (2005) 0.99
Rapamycin inhibits growth and survival of D816V-mutated c-kit mast cells. Blood (2006) 0.99
A backup role of DNA polymerase kappa in Ig gene hypermutation only takes place in the complete absence of DNA polymerase eta. J Immunol (2009) 0.99
Severe cardiac involvement in children with systemic sclerosis and myositis. J Rheumatol (2002) 0.98
Phenotypic and genotypic characteristics of mastocytosis according to the age of onset. PLoS One (2008) 0.98
Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. Carcinogenesis (2009) 0.98
A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa. Hum Mutat (2008) 0.98
A prognostic signature of defective p53-dependent G1 checkpoint function in melanoma cell lines. Pigment Cell Melanoma Res (2012) 0.97
Transcriptional profiles of unirradiated or UV-irradiated human cells expressing either the cancer-prone XPB/CS allele or the noncancer-prone XPB/TTD allele. Oncogene (2005) 0.97
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form. Hum Genet (2013) 0.96
Kaposi's sarcoma in a child with Wiskott-Aldrich syndrome. Eur J Pediatr (2006) 0.96
CEMARA: a Web dynamic application within a N-tier architecture for rare diseases. Stud Health Technol Inform (2008) 0.96
Angioedema in renal transplant recipients on sirolimus. Dermatology (2007) 0.95