Published in J Invest Dermatol on January 07, 2010
DNA repair diseases: What do they tell us about cancer and aging? Genet Mol Biol (2014) 0.98
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. Proc Natl Acad Sci U S A (2013) 0.93
Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology. PLoS Genet (2011) 0.93
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East. Orphanet J Rare Dis (2012) 0.91
Targeted gene therapy of xeroderma pigmentosum cells using meganuclease and TALEN™. PLoS One (2013) 0.84
The Moroccan Genetic Disease Database (MGDD): a database for DNA variations related to inherited disorders and disease susceptibility. Eur J Hum Genet (2013) 0.82
Founder mutations in xeroderma pigmentosum. J Invest Dermatol (2010) 0.80
Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations. Biomed Res Int (2013) 0.76
Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG. Biomed Res Int (2016) 0.75
Predominant role of DNA polymerase eta and p53-dependent translesion synthesis in the survival of ultraviolet-irradiated human cells. Nucleic Acids Res (2017) 0.75
Xeroderma pigmentosum: a heterogeneous disease with pockets of homogeneity. J Invest Dermatol (2010) 0.75
Severe iron deficiency anemia in transgenic mice expressing liver hepcidin. Proc Natl Acad Sci U S A (2002) 4.64
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
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
Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. N Engl J Med (2002) 3.24
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
NHERF1 mutations and responsiveness of renal parathyroid hormone. N Engl J Med (2008) 2.70
Pegylated interferon-alfa-2a induces complete hematologic and molecular responses with low toxicity in polycythemia vera. Blood (2008) 2.55
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet (2012) 2.50
UV irradiation triggers ubiquitin-dependent degradation of p21(WAF1) to promote DNA repair. Cell (2003) 2.41
NF-1Score: a prediction score for internal neurofibromas in neurofibromatosis-1. J Invest Dermatol (2010) 2.25
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
Origins and genetic diversity of pygmy hunter-gatherers from Western Central Africa. Curr Biol (2009) 2.01
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet (2004) 1.94
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Mol Genet (2003) 1.94
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat (2007) 1.93
Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. Nat Genet (2002) 1.90
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
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet (2003) 1.75
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Nat Genet (2005) 1.70
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. Blood (2011) 1.68
ERCC2/XPD gene polymorphisms and cancer risk. Mutagenesis (2002) 1.65
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am J Hum Genet (2008) 1.64
Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients. Proc Natl Acad Sci U S A (2002) 1.63
DNA polymerase eta is involved in hypermutation occurring during immunoglobulin class switch recombination. J Exp Med (2004) 1.59
Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier gene. Gastroenterology (2006) 1.56
DNA repair: from molecular mechanism to human disease. DNA Repair (Amst) (2006) 1.56
Is EPO therapy able to correct iron deficiency anaemia caused by matriptase-2 deficiency? Br J Haematol (2011) 1.55
Ferritin and transferrin are associated with metabolic syndrome abnormalities and their change over time in a general population: Data from an Epidemiological Study on the Insulin Resistance Syndrome (DESIR). Diabetes Care (2007) 1.53
Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. Am J Hum Genet (2009) 1.53
Role of DNA polymerase eta in the UV mutation spectrum in human cells. J Biol Chem (2003) 1.53
Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda. J Invest Dermatol (2003) 1.53
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet (2006) 1.53
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network. Genet Med (2007) 1.52
Skin tumors induced by sorafenib; paradoxic RAS-RAF pathway activation and oncogenic mutations of HRAS, TP53, and TGFBR1. Clin Cancer Res (2011) 1.52
Association between endothelin receptor B nonsynonymous variants and melanoma risk. J Natl Cancer Inst (2005) 1.51
XPD mutations prevent TFIIH-dependent transactivation by nuclear receptors and phosphorylation of RARalpha. Cell (2002) 1.51
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Nat Genet (2001) 1.51
Segmental vitiligo associated with generalized vitiligo (mixed vitiligo): a retrospective case series of 19 patients. J Am Acad Dermatol (2011) 1.48
Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations. Blood (2003) 1.46
Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity. Hum Mutat (2012) 1.46
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet (2012) 1.44
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
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
SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels. J Invest Dermatol (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
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet (2004) 1.39
Two novel mutations in the L ferritin coding sequence associated with benign hyperferritinaemia unmasked by glycosylated ferritin assay. Ann Clin Biochem (2012) 1.37
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet (2005) 1.37
DNA repair gene XRCC2 and XRCC3 polymorphisms and susceptibility to cancers of the upper aerodigestive tract. Int J Cancer (2004) 1.37
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. Am J Hum Genet (2012) 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
Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency. Blood (2008) 1.35
Ferritin and transferrin are both predictive of the onset of hyperglycemia in men and women over 3 years: the data from an epidemiological study on the Insulin Resistance Syndrome (DESIR) study. Diabetes Care (2006) 1.32
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
Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. Blood (2006) 1.30
The hematopoietic stem cell compartment of JAK2V617F-positive myeloproliferative disorders is a reflection of disease heterogeneity. Blood (2008) 1.28
Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. Eur J Hum Genet (2005) 1.28
Polymorphism discovery in 62 DNA repair genes and haplotype associations with risks for lung and head and neck cancers. Carcinogenesis (2007) 1.27
Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population. Hum Mutat (2008) 1.26
Real-time PCR quantification of genital shedding of herpes simplex virus (HSV) and human immunodeficiency virus (HIV) in women coinfected with HSV and HIV. J Clin Microbiol (2006) 1.26
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
The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population. PLoS One (2013) 1.21
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics (2002) 1.21
PTHR1 mutations associated with Ollier disease result in receptor loss of function. Hum Mol Genet (2008) 1.20
HIF-2α protects human hematopoietic stem/progenitors and acute myeloid leukemic cells from apoptosis induced by endoplasmic reticulum stress. Cell Stem Cell (2013) 1.18
The DNA repair genes XPB and XPD defend cells from retroviral infection. Proc Natl Acad Sci U S A (2006) 1.18
Tyrosine phosphorylation regulates alpha II spectrin cleavage by calpain. Mol Cell Biol (2002) 1.18
A physiological model to study iron recycling in macrophages. Exp Cell Res (2005) 1.17
Ocular manifestations in the inherited DNA repair disorders. Surv Ophthalmol (2003) 1.16
Protective effects of catalase overexpression on UVB-induced apoptosis in normal human keratinocytes. J Biol Chem (2006) 1.16
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. J Med Genet (2011) 1.14
New insights for understanding the transcription-coupled repair pathway. DNA Repair (Amst) (2006) 1.12
Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome. Eur J Hum Genet (2008) 1.12
Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia. Haematologica (2011) 1.11
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. Eur J Med Genet (2007) 1.11
Propranolol for treatment of ulcerated infantile hemangiomas. J Am Acad Dermatol (2011) 1.10
Crystal structure of γ-tubulin complex protein GCP4 provides insight into microtubule nucleation. Nat Struct Mol Biol (2011) 1.10
Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. Blood (2009) 1.10
Association study between iron-related genes polymorphisms and Parkinson's disease. J Neurol (2002) 1.09
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations. Hum Mutat (2011) 1.09
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. Eur J Hum Genet (2009) 1.09
Treatment of generalized vitiligo with anti-TNF-α Agents. J Drugs Dermatol (2012) 1.08
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