Published in J Invest Dermatol on October 01, 2005
Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation. J Clin Invest (2013) 1.11
Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet (2008) 5.04
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
A simplified laminin nomenclature. Matrix Biol (2005) 3.81
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol (2008) 3.72
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet (2009) 2.57
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2010) 2.39
Demonstration of epitope-spreading phenomena in bullous pemphigoid: results of a prospective multicenter study. J Invest Dermatol (2011) 2.27
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet (2008) 2.16
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
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet (2006) 1.79
A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet (2009) 1.71
A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy. J Clin Invest (2008) 1.67
The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. Hum Mutat (2011) 1.65
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet (2012) 1.64
Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. J Invest Dermatol (2009) 1.62
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. J Invest Dermatol (2007) 1.57
Substrate-specific modulation of a multisubstrate proteinase. C-terminal processing of fibrillar procollagens is the only BMP-1-dependent activity to be enhanced by PCPE-1. J Biol Chem (2005) 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
Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes. J Biol Chem (2006) 1.52
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet (2011) 1.50
Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet (2005) 1.46
Cutaneous metastases of visceral tumours: a review. J Cancer Res Clin Oncol (2008) 1.45
Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa. J Invest Dermatol (2006) 1.39
Epidermal ADAM17 maintains the skin barrier by regulating EGFR ligand-dependent terminal keratinocyte differentiation. J Exp Med (2012) 1.39
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Hum Mutat (2011) 1.36
Integrin α3 mutations with kidney, lung, and skin disease. N Engl J Med (2012) 1.33
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. Am J Hum Genet (2006) 1.32
Proteinases of the bone morphogenetic protein-1 family convert procollagen VII to mature anchoring fibril collagen. J Biol Chem (2002) 1.32
The novel centrosomal associated protein CEP55 is present in the spindle midzone and the midbody. Genomics (2006) 1.31
Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling. Hum Mol Genet (2003) 1.30
Collagenous transmembrane proteins: recent insights into biology and pathology. J Biol Chem (2004) 1.29
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. Am J Hum Genet (2012) 1.28
The C20orf133 gene is disrupted in a patient with Kabuki syndrome. J Med Genet (2007) 1.28
Supramolecular interactions in the dermo-epidermal junction zone: anchoring fibril-collagen VII tightly binds to banded collagen fibrils. J Biol Chem (2008) 1.26
Basement membranes and human disease. Cell Tissue Res (2009) 1.26
Transmembrane collagen XVII, an epithelial adhesion protein, is shed from the cell surface by ADAMs. EMBO J (2002) 1.22
Keratinocytes from patients lacking collagen XVII display a migratory phenotype. Am J Pathol (2004) 1.20
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. Eur J Hum Genet (2005) 1.19
AlphaPIX and betaPIX and their role in focal adhesion formation. Eur J Cell Biol (2005) 1.18
Cleavage and oligomerization of gliomedin, a transmembrane collagen required for node of ranvier formation. J Biol Chem (2007) 1.16
Progress in epidermolysis bullosa research: toward treatment and cure. J Invest Dermatol (2010) 1.16
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. Am J Med Genet A (2012) 1.15
Laminin-332 coordinates mechanotransduction and growth cone bifurcation in sensory neurons. Nat Neurosci (2011) 1.14
Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter. Am J Med Genet A (2009) 1.12
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. Hum Genet (2001) 1.11
Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet (2011) 1.11
Differential proteomic analysis distinguishes tissue repair biomarker signatures in wound exudates obtained from normal healing and chronic wounds. J Proteome Res (2010) 1.10
Discrete integration of collagen XVI into tissue-specific collagen fibrils or beaded microfibrils. Matrix Biol (2003) 1.10
Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene. J Invest Dermatol (2006) 1.10
Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes. Am J Pathol (2009) 1.09
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. J Med Genet (2007) 1.08
Molecular and diagnostic aspects of genetic skin fragility. J Dermatol Sci (2006) 1.05
Multicenter prospective study of the humoral autoimmune response in bullous pemphigoid. Clin Immunol (2008) 1.05
Molecular basis of inherited skin-blistering disorders, and therapeutic implications. Expert Rev Mol Med (2006) 1.05
The epidermal basement membrane is a composite of separate laminin- or collagen IV-containing networks connected by aggregated perlecan, but not by nidogens. J Biol Chem (2012) 1.04
Mechanisms of fibroblast cell therapy for dystrophic epidermolysis bullosa: high stability of collagen VII favors long-term skin integrity. Mol Ther (2009) 1.03
A novel marker of tissue junctions, collagen XXII. J Biol Chem (2004) 1.03
The face of Noonan syndrome: Does phenotype predict genotype. Am J Med Genet A (2010) 1.03
Shedding of collagen XVII/BP180 in skin depends on both ADAM10 and ADAM9. J Biol Chem (2009) 1.02
Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet (2003) 1.01
HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations? Mol Vis (2007) 1.00
PAK4 and alphaPIX determine podosome size and number in macrophages through localized actin regulation. J Cell Physiol (2006) 1.00
Collagen VII plays a dual role in wound healing. J Clin Invest (2013) 1.00
Dystroglycan in skin and cutaneous cells: beta-subunit is shed from the cell surface. J Invest Dermatol (2004) 0.99
Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits. Hum Mol Genet (2011) 0.99
A microinjected COL7A1-PAC vector restores synthesis of intact procollagen VII in a dystrophic epidermolysis bullosa keratinocyte cell line. Hum Gene Ther (2002) 0.99
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. Eur J Med Genet (2013) 0.97
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome. J Invest Dermatol (2012) 0.97
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. J Med Genet (2013) 0.97
Shedding of collagen XVII ectodomain depends on plasma membrane microenvironment. J Biol Chem (2005) 0.96
Shedding of collagen XXIII is mediated by furin and depends on the plasma membrane microenvironment. J Biol Chem (2007) 0.96
Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII. J Biol Chem (2009) 0.95
Alterations of collagen XVII expression during transformation of oral epithelium to dysplasia and carcinoma. J Histochem Cytochem (2003) 0.94
Cetuximab therapy of metastasizing cutaneous squamous cell carcinoma in a patient with severe recessive dystrophic epidermolysis bullosa. Dermatology (2009) 0.94
Ectodomain shedding generates Neoepitopes on collagen XVII, the major autoantigen for bullous pemphigoid. J Immunol (2010) 0.94
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. J Med Genet (2011) 0.94
Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein. Genomics (2004) 0.94
Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1. Hum Mol Genet (2008) 0.94
Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome. Hum Mutat (2009) 0.93
Kindlin-1 and -2 have overlapping functions in epithelial cells implications for phenotype modification. Am J Pathol (2011) 0.92
Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. Hum Mol Genet (2011) 0.92
Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome. Eur J Med Genet (2007) 0.92
AlphaPIX Rho GTPase guanine nucleotide exchange factor regulates lymphocyte functions and antigen receptor signaling. Mol Cell Biol (2008) 0.92
Shedding of collagen XVII/BP180: structural motifs influence cleavage from cell surface. J Biol Chem (2004) 0.92
AlphaPIX associates with calpain 4, the small subunit of calpain, and has a dual role in integrin-mediated cell spreading. J Biol Chem (2004) 0.92
Role of kindlin-2 in fibroblast functions: implications for wound healing. J Invest Dermatol (2010) 0.92
Recommendations for the use of rituximab (anti-CD20 antibody) in the treatment of autoimmune bullous skin diseases. J Dtsch Dermatol Ges (2008) 0.91
Collagenous transmembrane proteins: collagen XVII as a prototype. Matrix Biol (2003) 0.91
A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: implications for recombinations in this region. Genomics (2002) 0.91
Extracellular phosphorylation of collagen XVII by ecto-casein kinase 2 inhibits ectodomain shedding. J Biol Chem (2007) 0.91
Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation. Hum Mol Genet (2009) 0.90
Candidate loci for Zimmermann-Laband syndrome at 3p14.3. Am J Med Genet A (2007) 0.90
Global remodelling of cellular microenvironment due to loss of collagen VII. Mol Syst Biol (2013) 0.90
Cytokines as genetic modifiers in K5-/- mice and in human epidermolysis bullosa simplex. Hum Mutat (2009) 0.89
Collagen XVII and BPAG1 expression in the retina: evidence for an anchoring complex in the central nervous system. J Comp Neurol (2005) 0.89