Published in J Invest Dermatol on December 01, 2001
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet (2002) 2.90
Diagnostic utility of cytokeratin 17 immunostaining in morpheaform basal cell carcinoma and for facilitating the detection of tumor cells at the surgical margins. Dermatol Surg (2012) 1.41
Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1. Am J Hum Genet (2011) 0.95
New described dermatological disorders. Biomed Res Int (2014) 0.77
Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene. Mol Med Rep (2015) 0.75
Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family. Eur J Pediatr (2013) 0.75
Targeted disruption of the melanocortin-4 receptor results in obesity in mice. Cell (1997) 11.35
Classification of cell death: recommendations of the Nomenclature Committee on Cell Death 2009. Cell Death Differ (2008) 10.45
Molecular definitions of cell death subroutines: recommendations of the Nomenclature Committee on Cell Death 2012. Cell Death Differ (2011) 9.44
Recombinant mouse OB protein: evidence for a peripheral signal linking adiposity and central neural networks. Science (1995) 9.09
Rescue of measles viruses from cloned DNA. EMBO J (1995) 7.87
A report--chronic fatigue syndrome: guidelines for research. J R Soc Med (1991) 7.70
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature (1997) 6.89
Health of UK servicemen who served in Persian Gulf War. Lancet (1999) 6.81
Role of a p53 polymorphism in the development of human papillomavirus-associated cancer. Nature (1998) 6.16
The tyrosine kinase c-Abl regulates p73 in apoptotic response to cisplatin-induced DNA damage. Nature (1999) 5.33
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature (2010) 4.52
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet (2001) 4.15
Are British psychiatrists racist? Br J Psychiatry (1990) 3.82
Schizophrenia and city life. Lancet (1992) 3.60
Is there a Gulf War syndrome? Lancet (1999) 3.58
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet (2001) 3.50
Guidelines for the use and interpretation of assays for monitoring cell death in higher eukaryotes. Cell Death Differ (2009) 3.44
A transmembrane CXC chemokine is a ligand for HIV-coreceptor Bonzo. Nat Immunol (2000) 3.44
Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science (1995) 3.44
Slater revisited: 6 year follow up study of patients with medically unexplained motor symptoms. BMJ (1998) 3.41
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet (2000) 3.39
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat Genet (1999) 3.25
Statistical methods of estimation and inference for functional MR image analysis. Magn Reson Med (1996) 3.13
Compliance therapy in psychotic patients: randomised controlled trial. BMJ (1996) 3.09
Premorbid adjustment and personality in people with schizophrenia. Br J Psychiatry (1998) 3.00
Classification of cell death: recommendations of the Nomenclature Committee on Cell Death. Cell Death Differ (2005) 2.91
miR-203 represses 'stemness' by repressing DeltaNp63. Cell Death Differ (2008) 2.86
Predictors of chronic "postviral" fatigue. Lancet (1994) 2.72
Overuse of the indwelling urinary tract catheter in hospitalized medical patients. Arch Intern Med (1995) 2.69
Chronic fatigue, ME, and ICD-10. Lancet (1993) 2.67
Ordering of caspases in cells undergoing apoptosis by the intrinsic pathway. Cell Death Differ (2009) 2.63
The p53/p63/p73 family of transcription factors: overlapping and distinct functions. J Cell Sci (2000) 2.55
A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature (1992) 2.49
Neurophysiologic analysis of neuromuscular symptoms in UK Gulf War veterans: a controlled study. Neurology (2002) 2.42
Human delta Np73 regulates a dominant negative feedback loop for TAp73 and p53. Cell Death Differ (2001) 2.40
Two new p73 splice variants, gamma and delta, with different transcriptional activity. J Exp Med (1998) 2.40
Management of chronic (post-viral) fatigue syndrome. J R Coll Gen Pract (1989) 2.31
Human papillomavirus infections in nonmelanoma skin cancers from renal transplant recipients and nonimmunosuppressed patients. J Natl Cancer Inst (1996) 2.28
TAp73/Delta Np73 influences apoptotic response, chemosensitivity and prognosis in hepatocellular carcinoma. Cell Death Differ (2005) 2.25
Identification of a major keratinocyte cell envelope protein, loricrin. Cell (1990) 2.25
Differential roles of p63 isoforms in epidermal development: selective genetic complementation in p63 null mice. Cell Death Differ (2006) 2.25
Lessons from loricrin-deficient mice: compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope protein. J Cell Biol (2000) 2.22
DNA probes specific for Entamoeba histolytica possessing pathogenic and nonpathogenic zymodemes. Infect Immun (1989) 2.22
Field trials of calciferol combined with warfarin against wild house-mice (Mus musclus L.). J Hyg (Lond) (1974) 2.22
Weekly subcutaneous pegylated recombinant native human leptin (PEG-OB) administration in obese men. J Clin Endocrinol Metab (2000) 2.19
Galactomannan antigenemia and antigenuria in aspergillosis: studies in patients and experimentally infected rabbits. J Infect Dis (1987) 2.18
p63 and p73, the ancestors of p53. Cold Spring Harb Perspect Biol (2010) 2.16
Randomised controlled trial of compliance therapy. 18-month follow-up. Br J Psychiatry (1998) 2.15
Thromboembolic phenomena after ovarian stimulation with human gonadotrophins. Lancet (1965) 2.15
Gene disruption of tissue transglutaminase. Mol Cell Biol (2001) 2.15
MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet (2001) 2.12
Monomeric IgE stimulates signaling pathways in mast cells that lead to cytokine production and cell survival. Immunity (2001) 2.11
Keratin antigens in differentiating skin. Ann N Y Acad Sci (1985) 2.10
Non-paternity and genetic counselling. Lancet (1992) 2.09
High levels of type VII collagen expression in recessive dystrophic epidermolysis bullosa cutaneous squamous cell carcinoma keratinocytes increases PI3K and MAPK signalling, cell migration and invasion. Br J Dermatol (2014) 2.09
Antibody markers of basal cells in complex epithelia. J Cell Sci (1990) 2.08
Keratin expression in human mammary epithelial cells cultured from normal and malignant tissue: relation to in vivo phenotypes and influence of medium. J Cell Sci (1989) 2.07
Protein unfolding by peptidylarginine deiminase. Substrate specificity and structural relationships of the natural substrates trichohyalin and filaggrin. J Biol Chem (1996) 2.05
Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum. J Mol Med (Berl) (2000) 2.04
Explicit and implicit neural mechanisms for processing of social information from facial expressions: a functional magnetic resonance imaging study. Hum Brain Mapp (2000) 2.04
Human papillomavirus infection and non-melanoma skin cancer in immunosuppressed and immunocompetent individuals. J Med Virol (2000) 2.03
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet (2001) 2.02
High glucose causes apoptosis in cultured human pancreatic islets of Langerhans: a potential role for regulation of specific Bcl family genes toward an apoptotic cell death program. Diabetes (2001) 2.02
The anatomy of conscious vision: an fMRI study of visual hallucinations. Nat Neurosci (1998) 2.01
Hydrolysis of a broad spectrum of extracellular matrix proteins by human macrophage elastase. J Biol Chem (1997) 2.00
Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas. Arch Dermatol (1996) 2.00
Role of vaccinations as risk factors for ill health in veterans of the Gulf war: cross sectional study. BMJ (2000) 1.98
Quality of care and outcomes of adults with asthma treated by specialists and generalists in managed care. Arch Intern Med (2001) 1.96
Accessibility of spoken, written, and sign language in Landau-Kleffner syndrome: a linguistic and functional MRI study. Epileptic Disord (2001) 1.92
Antibody responses in nasal secretions and serum of elderly persons following local or parenteral administration of inactivated influenza virus vaccine. J Immunol (1969) 1.91
S-nitrosylation regulates apoptosis. Nature (1997) 1.91
Senescence and aging: the critical roles of p53. Oncogene (2013) 1.90
Basal cell-specific and hyperproliferation-related keratins in human breast cancer. Am J Pathol (1991) 1.88
Expression of simple epithelial keratins 8 and 18 in epidermal neoplasia. J Invest Dermatol (1991) 1.87
Autism, language delay and mental retardation in a patient with 7q11 duplication. J Med Genet (2007) 1.86
Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br J Dermatol (1999) 1.84
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. J Med Genet (2002) 1.84
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. Hum Mol Genet (2001) 1.84
Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. Br J Dermatol (2001) 1.82
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol (2000) 1.82
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet (1998) 1.82
Retracted Functional and nonfunctional measles virus matrix genes from lethal human brain infections. J Virol (1991) 1.82
Mutations affecting the formation of acetohydroxy acid synthase II in Escherichia coli K-12. Mol Gen Genet (1979) 1.81
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J Med Genet (2006) 1.80
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet (1996) 1.78
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. Nat Genet (1997) 1.75
Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev (1996) 1.75
Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science (1992) 1.73
Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol (1995) 1.69
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet (1997) 1.68
Analysis of the cornified cell envelope in lamellar ichthyosis. Arch Dermatol (1993) 1.67
Transverse-momentum and pseudorapidity distributions of charged hadrons in pp collisions at square root of s = 7 TeV. Phys Rev Lett (2010) 1.67