Published in Am J Pathol on June 01, 1996
Target gene analyses of 39 amelogenesis imperfecta kindreds. Eur J Oral Sci (2011) 1.97
Regulation of dental enamel shape and hardness. J Dent Res (2010) 1.71
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet (2006) 1.29
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta. Eur J Hum Genet (2013) 1.28
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta. J Dent Res (2013) 1.17
IAP insertion in the murine LamB3 gene results in junctional epidermolysis bullosa. Mamm Genome (1997) 1.17
Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation. J Clin Invest (1999) 1.17
Diseases of epidermal keratins and their linker proteins. Exp Cell Res (2007) 1.13
Type XVII collagen is a key player in tooth enamel formation. Am J Pathol (2008) 1.07
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes. Am J Hum Genet (1999) 1.06
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta. Hum Mol Genet (2013) 1.01
Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa. Am J Hum Genet (1997) 0.98
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. J Med Genet (2015) 0.93
Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa. Am J Hum Genet (1997) 0.93
Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. Am J Hum Genet (2016) 0.86
Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta. Hum Mol Genet (2016) 0.84
Amelogenesis Imperfecta; Genes, Proteins, and Pathways. Front Physiol (2017) 0.82
Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation. Oral Surg Oral Med Oral Pathol Oral Radiol (2014) 0.81
Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta. Front Physiol (2017) 0.75
Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency. Eur J Hum Genet (2016) 0.75
Lessons from skin blistering: molecular mechanisms and unusual patterns of inheritance? Am J Pathol (1996) 0.75
DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A (1977) 790.54
Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci U S A (1993) 5.47
Nonsense mutations in the dihydrofolate reductase gene affect RNA processing. Mol Cell Biol (1989) 5.19
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell (1995) 3.72
Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA. Mol Cell Biol (1990) 3.10
Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis. J Biol Chem (1993) 2.89
Mutations in collagen genes: causes of rare and some common diseases in humans. FASEB J (1991) 2.86
Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol (1991) 2.79
Brittle bones--fragile molecules: disorders of collagen gene structure and expression. Trends Genet (1990) 2.13
Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180. J Invest Dermatol (1992) 1.99
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet (1995) 1.90
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet (1995) 1.71
Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nat Genet (1994) 1.65
Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). Nat Genet (1994) 1.63
A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics (1994) 1.59
Intraepidermal type VII collagen. Evidence for abnormal intracytoplasmic processing of a major basement membrane protein in rare patients with dominant and possibly localized recessive forms of dystrophic epidermolysis bullosa. J Am Acad Dermatol (1990) 1.54
Molecular genetics of Alport syndrome. Kidney Int (1993) 1.48
HD4, a 180 kDa bullous pemphigoid antigen, is a major transmembrane glycoprotein of the hemidesmosome. J Biochem (1993) 1.40
Collagens and their abnormalities in a wide spectrum of diseases. Ann Med (1993) 1.33
Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases. J Clin Invest (1992) 1.29
Generalized atrophic benign epidermolysis bullosa. Arch Dermatol (1982) 1.27
Developmental expression of nicein adhesion protein (laminin-5) subunits suggests multiple morphogenic roles. Cell Adhes Commun (1994) 1.20
A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. Hum Mol Genet (1995) 1.17
180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa. J Clin Invest (1995) 1.16
Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene. Arch Dermatol Res (1994) 1.13
Molecular genetics of epidermolysis bullosa. Science (1992) 1.11
Epidermolysis bullosa hereditaria with junctional blistering in an adult. Dermatologica (1976) 1.09
Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen. Proc Natl Acad Sci U S A (1994) 1.05
Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis. J Invest Dermatol (1986) 1.03
Genomic organization of collagenous domains and chromosomal assignment of human 180-kDa bullous pemphigoid antigen-2, a novel collagen of stratified squamous epithelium. J Biol Chem (1991) 0.98
A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol (1996) 0.97
Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes. J Invest Dermatol (1994) 0.97
GB3 monoclonal antibody for diagnosis of junctional epidermolysis bullosa. Lancet (1986) 0.96
Molecular diagnosis of inherited skin diseases: the paradigm of dystrophic epidermolysis bullosa. Adv Dermatol (1996) 0.91
Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen. Hum Mol Genet (1995) 0.88
Genetic skin disorders of keratin. J Invest Dermatol (1992) 0.88
Developing teeth in epidermolysis bullosa hereditaria letalis. A histological study. Br Dent J (1968) 0.87
The disturbances in odontogenesis in epidermolysis bullosa hereditaria letalis. Oral Surg Oral Med Oral Pathol (1975) 0.81
Abnormal binding of an anti-amnion antibody to epidermal basement membrane provides a novel diagnostic probe for junctional epidermolysis bullosa. Br J Dermatol (1985) 0.80
[Clinical aspects of epidermolyses with junctional blister formation (author's transl)]. Dermatologica (1979) 0.78
Ultrastructural clues to genetic disorders of skin: the dermal-epidermal junction. J Invest Dermatol (1994) 0.78
Unsafe injection practices in a cohort of injection drug users in Vancouver: could safer injecting rooms help? CMAJ (2001) 4.96
Impact of HIV infection on mortality in a cohort of injection drug users. J Acquir Immune Defic Syndr (2001) 2.80
Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol (1991) 2.79
The centrosomin protein is required for centrosome assembly and function during cleavage in Drosophila. Development (1999) 2.78
A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature (1992) 2.49
Incidence of hepatitis C virus infection among injection drug users during an outbreak of HIV infection. CMAJ (2001) 2.47
Novel function for beta 1 integrins in keratinocyte cell-cell interactions. J Cell Biol (1990) 2.39
Virus Particle Explorer (VIPER), a website for virus capsid structures and their computational analyses. J Virol (2001) 2.34
Effectiveness of conventional, low-dose and intermittent oral isotretinoin in the treatment of acne: a randomized, controlled comparative study. Br J Dermatol (2011) 2.26
Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris. J Cell Biol (1997) 2.23
Radiofrequency volumetric tissue reduction of the palate in subjects with sleep-disordered breathing. Chest (1998) 2.23
Alopecia universalis associated with a mutation in the human hairless gene. Science (1998) 2.23
The mechanism of respiratory failure in paraneoplastic pemphigus. N Engl J Med (1999) 2.21
Circulating FGF-21 levels in normal subjects and in newly diagnose patients with Type 2 diabetes mellitus. Exp Clin Endocrinol Diabetes (2007) 2.13
Mucosal gene signatures to predict response to infliximab in patients with ulcerative colitis. Gut (2009) 2.08
Effects of pulsed ultrasound and temperature on the development of rat embryos in culture. Teratology (1990) 2.07
Neonatal blood: a source of haematopoietic stem cells for transplantation? Lancet (1998) 1.99
Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci U S A (2000) 1.97
Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol (2000) 1.97
Comparison of nerve cell and nerve cell plus Schwann cell cultures, with particular emphasis on basal lamina and collagen formation. J Cell Biol (1980) 1.96
Hair follicle predetermination. J Cell Sci (2001) 1.92
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet (1995) 1.90
Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet (1995) 1.83
Glucocorticoid-inducible expression of a bacterial avirulence gene in transgenic Arabidopsis induces hypersensitive cell death. Plant J (1998) 1.83
Risky sexual behaviours among injection drugs users with high HIV prevalence: implications for STD control. Sex Transm Infect (2002) 1.81
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet (1996) 1.78
Intrinsic aging vs. photoaging: a comparative histopathological, immunohistochemical, and ultrastructural study of skin. Exp Dermatol (2002) 1.75
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
Scleroderma: increased biosynthesis of triple-helical type I and type III procollagens associated with unaltered expression of collagenase by skin fibroblasts in culture. J Clin Invest (1979) 1.73
Trends in cancer mortality in China: an update. Ann Oncol (2012) 1.72
Connective tissue nevi of the skin. Clinical, genetic, and histopathologic classification of hamartomas of the collagen, elastin, and proteoglycan type. J Am Acad Dermatol (1980) 1.71
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet (1995) 1.71
Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol (1999) 1.70
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
Human elastin gene: new evidence for localization to the long arm of chromosome 7. Am J Hum Genet (1991) 1.69
Surviving the sex trade: a comparison of HIV risk behaviours among street-involved women in two Canadian cities who inject drugs. AIDS Care (2003) 1.69
The Drosophila homeotic target gene centrosomin (cnn) encodes a novel centrosomal protein with leucine zippers and maps to a genomic region required for midgut morphogenesis. Development (1995) 1.69
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet (1997) 1.68
Human type VII collagen: cDNA cloning and chromosomal mapping of the gene. Proc Natl Acad Sci U S A (1991) 1.66
Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nat Genet (1994) 1.65
cDNA sequence of a human skeletal muscle ADP/ATP translocator: lack of a leader peptide, divergence from a fibroblast translocator cDNA, and coevolution with mitochondrial DNA genes. Proc Natl Acad Sci U S A (1987) 1.64
Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). Nat Genet (1994) 1.63
Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa. J Cell Sci (1999) 1.61
Audit of gastrointestinal bleeding in a district general hospital. BMJ (1992) 1.61
Worst, average or current pain in the Brief Pain Inventory: which should be used to calculate the response to palliative radiotherapy in patients with bone metastases? Clin Oncol (R Coll Radiol) (2007) 1.60
A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics (1994) 1.59
A new method for recovery of exudates from normal and inflamed human skin. Clin Exp Dermatol (1977) 1.58
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell (1997) 1.57
Pruritic urticarial papules and plaques of pregnancy (polymorphic eruption of pregnancy): two unusual cases. Br J Dermatol (1996) 1.57
Increased collagen cross-linkages in experimental diabetes: reversal by beta-aminopropionitrile and D-penicillamine. Diabetes (1980) 1.56
Telomerase reverse transcriptase promotes epithelial-mesenchymal transition and stem cell-like traits in cancer cells. Oncogene (2012) 1.55
Human bullous pemphigoid antigen (BPAG1). Amino acid sequences deduced from cloned cDNAs predict biologically important peptide segments and protein domains. J Biol Chem (1991) 1.55
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation. J Cell Sci (2001) 1.54
A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. Nat Genet (1993) 1.53
Mast cell population density, blood vessel density and histamine content in normal human skin. Br J Dermatol (1979) 1.53
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet (1999) 1.52
Localization of integrin receptors for fibronectin, collagen, and laminin in human skin. Variable expression in basal and squamous cell carcinomas. J Clin Invest (1989) 1.52
An AP-1 binding sequence is essential for regulation of the human alpha2(I) collagen (COL1A2) promoter activity by transforming growth factor-beta. J Biol Chem (1996) 1.52
Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms. J Biol Chem (1994) 1.51
Smad3/AP-1 interactions control transcriptional responses to TGF-beta in a promoter-specific manner. Oncogene (2001) 1.51
Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome. Am J Med Genet (2001) 1.48
A functional "knockout" of human keratin 14. Genes Dev (1994) 1.48
A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nat Genet (1996) 1.47
Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features. Br J Dermatol (1994) 1.47
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. J Invest Dermatol (1999) 1.47
The cause and pathogenesis of the eosinophilia-myalgia syndrome. Ann Intern Med (1992) 1.46
Adult-onset Still's disease. Twenty-year followup and further studies of patients with active disease. Arthritis Rheum (1982) 1.45
Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene. Am J Hum Genet (1989) 1.44
Protection against pemphigus foliaceus by desmoglein 3 in neonates. N Engl J Med (2000) 1.43
Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene. Genomics (1994) 1.43
The discrepancy between the legal definition of capacity and the British Medical Association's guidelines. J Med Ethics (2004) 1.41
Further evaluation of the significance of urinary hydroxyproline determinations in the diagnosis of thyroid disorders. Clin Chim Acta (1968) 1.41
Satisfaction with hospital emergency department as a function of patient triage. Health Care Manage Rev (1986) 1.41
Characterization of the complete human elastin gene. Delineation of unusual features in the 5'-flanking region. J Biol Chem (1989) 1.40