Published in Cell on April 18, 2003
Conditional targeting of E-cadherin in skin: insights into hyperproliferative and degenerative responses. Proc Natl Acad Sci U S A (2004) 1.99
A spontaneous deletion within the desmoglein 3 extracellular domain of mice results in hypomorphic protein expression, immunodeficiency, and a wasting disease phenotype. Am J Pathol (2014) 1.97
Deconstructing the skin: cytoarchitectural determinants of epidermal morphogenesis. Nat Rev Mol Cell Biol (2011) 1.94
Genetic and functional characterization of human pemphigus vulgaris monoclonal autoantibodies isolated by phage display. J Clin Invest (2005) 1.90
DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Hum Genet (2006) 1.85
The desmosome. Cold Spring Harb Perspect Biol (2009) 1.77
Desmoglein 1-dependent suppression of EGFR signaling promotes epidermal differentiation and morphogenesis. J Cell Biol (2009) 1.73
Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet (2006) 1.68
The desmosome and pemphigus. Histochem Cell Biol (2008) 1.54
Isolation of pathogenic monoclonal anti-desmoglein 1 human antibodies by phage display of pemphigus foliaceus autoantibodies. J Invest Dermatol (2007) 1.45
Perturbed desmosomal cadherin expression in grainy head-like 1-null mice. EMBO J (2008) 1.42
Discovering the molecular components of intercellular junctions--a historical view. Cold Spring Harb Perspect Biol (2009) 1.39
Primary follicular dystrophy with scarring dermatitis in C57BL/6 mouse substrains resembles central centrifugal cicatricial alopecia in humans. Vet Pathol (2010) 1.32
Desmoglein as a target in skin disease and beyond. J Invest Dermatol (2011) 1.28
Pemphigus autoimmunity: hypotheses and realities. Autoimmunity (2011) 1.23
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. Hum Genet (2007) 1.16
Desmosomes at a glance. J Cell Sci (2009) 1.14
A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. Am J Hum Genet (2009) 1.13
Diseases of epidermal keratins and their linker proteins. Exp Cell Res (2007) 1.13
Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol (2009) 1.13
Assessment of splice variant-specific functions of desmocollin 1 in the skin. Mol Cell Biol (2004) 1.12
The biology of the desmosome-like junction a versatile anchoring junction and signal transducer in the seminiferous epithelium. Int Rev Cell Mol Biol (2011) 1.12
Immunopathology and molecular diagnosis of autoimmune bullous diseases. J Cell Mol Med (2007) 1.10
The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis. Hum Hered (2009) 1.09
Disruption of desmosome assembly by monovalent human pemphigus vulgaris monoclonal antibodies. J Invest Dermatol (2008) 1.05
Autoimmune and infectious skin diseases that target desmogleins. Proc Jpn Acad Ser B Phys Biol Sci (2010) 1.03
Regulation of desmocollin gene expression in the epidermis: CCAAT/enhancer-binding proteins modulate early and late events in keratinocyte differentiation. Biochem J (2004) 1.01
Broken hearts, woolly hair, and tattered skin: when desmosomal adhesion goes awry. Curr Opin Cell Biol (2007) 0.99
Nuclear-cytoskeletal linkages facilitate cross talk between the nucleus and intercellular adhesions. J Cell Biol (2015) 0.99
The nude mutant gene Foxn1 is a HOXC13 regulatory target during hair follicle and nail differentiation. J Invest Dermatol (2010) 0.98
Transcription profiling provides insights into gene pathways involved in horn and scurs development in cattle. BMC Genomics (2010) 0.98
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). Hum Genet (2008) 0.95
Desmosomes: just cell adhesion or is there more? Cell Adh Migr (2007) 0.94
Preferential gene expression in the limbus of the vervet monkey. Mol Vis (2008) 0.92
Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation. Genomics (2008) 0.92
Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. Hum Genet (2010) 0.90
Smad4-dependent desmoglein-4 expression contributes to hair follicle integrity. Dev Biol (2008) 0.89
Characterization of desmoglein expression in the normal prostatic gland. Desmoglein 2 is an independent prognostic factor for aggressive prostate cancer. PLoS One (2014) 0.88
Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene. Exp Dermatol (2008) 0.87
A deletion in exon 9 of the LIPH gene is responsible for the rex hair coat phenotype in rabbits (Oryctolagus cuniculus). PLoS One (2011) 0.86
To grow or not to grow: hair morphogenesis and human genetic hair disorders. Semin Cell Dev Biol (2013) 0.86
Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation. Differentiation (2009) 0.86
Defining the pathogenic involvement of desmoglein 4 in pemphigus and staphylococcal scalded skin syndrome. J Clin Invest (2004) 0.85
Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23–22.3. Hum Genet (2010) 0.85
New approaches to the representation and analysis of phenotype knowledge in human diseases and their animal models. Brief Funct Genomics (2011) 0.85
Cadherins as targets for genetic diseases. Cold Spring Harb Perspect Biol (2010) 0.85
Desmosomes: regulators of cellular signaling and adhesion in epidermal health and disease. Cold Spring Harb Perspect Med (2014) 0.84
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia. Hum Genet (2012) 0.84
Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes. Hum Genet (2010) 0.82
Activation of the δ-opioid receptor promotes cutaneous wound healing by affecting keratinocyte intercellular adhesion and migration. Br J Pharmacol (2014) 0.81
Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy. Dermatology (2010) 0.81
Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33-q27.3. Hum Genet (2005) 0.80
Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology. Proc Natl Acad Sci U S A (2008) 0.80
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. Am J Hum Genet (2012) 0.78
R164C mutation in FOXQ1 H3 domain affects formation of the hair medulla. Exp Dermatol (2013) 0.78
Cell adhesion in epidermal development and barrier formation. Curr Top Dev Biol (2015) 0.77
Immune response in pemphigus and beyond: progresses and emerging concepts. Semin Immunopathol (2015) 0.77
Do cell junction protein mutations cause an airway phenotype in mice or humans? Am J Respir Cell Mol Biol (2011) 0.77
Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice. Immunogenetics (2008) 0.76
Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome. Exp Mol Pathol (2015) 0.76
The genetics of human skin disease. Cold Spring Harb Perspect Med (2014) 0.76
Non-infectious environmental antigens as a trigger for the initiation of an autoimmune skin disease. Autoimmun Rev (2016) 0.75
t-Flavanone Improves the Male Pattern of Hair Loss by Enhancing Hair-Anchoring Strength: A Randomized, Double-Blind, Placebo-Controlled Study. Dermatol Ther (Heidelb) (2016) 0.75
Desmogleins: hair perspective. Int J Trichology (2013) 0.75
An autosomal recessive mutation of DSG4 causes monilethrix through the ER stress response. J Invest Dermatol (2015) 0.75
Desmosomes: A light microscopic and ultrastructural analysis of desmosomes in odontogenic cysts. J Oral Maxillofac Pathol (2015) 0.75
Multiplexed autoantigen microarrays identify HLA as a key driver of anti-desmoglein and -non-desmoglein reactivities in pemphigus. Proc Natl Acad Sci U S A (2016) 0.75
KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-like Phenotype. PLoS Genet (2017) 0.75
Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH). Iran J Basic Med Sci (2014) 0.75
Oral Lesions: The Clue to Diagnosis of Pemphigus Vulgaris. Case Rep Dent (2015) 0.75
Large-scale copy number polymorphism in the human genome. Science (2004) 34.64
Complement factor H polymorphism in age-related macular degeneration. Science (2005) 31.10
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Interaction between the serotonin transporter gene (5-HTTLPR), stressful life events, and risk of depression: a meta-analysis. JAMA (2009) 12.35
The Collaborative Cross, a community resource for the genetic analysis of complex traits. Nat Genet (2004) 9.37
Stem cells in the hair follicle bulge contribute to wound repair but not to homeostasis of the epidermis. Nat Med (2005) 8.01
Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet (2007) 6.75
Enrichment for living murine keratinocytes from the hair follicle bulge with the cell surface marker CD34. J Invest Dermatol (2003) 5.28
Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration. Nature (2006) 5.07
The Mouse Tumor Biology Database: a public resource for cancer genetics and pathology of the mouse. Cancer Res (2002) 4.31
Mathematical multi-locus approaches to localizing complex human trait genes. Nat Rev Genet (2003) 4.18
SHARPIN forms a linear ubiquitin ligase complex regulating NF-κB activity and apoptosis. Nature (2011) 4.14
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet (2005) 4.13
The nature and identification of quantitative trait loci: a community's view. Nat Rev Genet (2003) 3.96
Manipulation of stem cell proliferation and lineage commitment: visualisation of label-retaining cells in wholemounts of mouse epidermis. Development (2003) 3.84
Elimination of antigen-presenting cells and autoreactive T cells by Fas contributes to prevention of autoimmunity. Immunity (2007) 3.84
A simplified laminin nomenclature. Matrix Biol (2005) 3.81
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet (2002) 3.73
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
Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med (2006) 3.58
A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. Nat Genet (2003) 3.52
Distribution and characterization of regulatory elements in the human genome. Genome Res (2002) 3.34
Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q. Am J Hum Genet (2005) 3.24
Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet (2005) 3.19
Aging in inbred strains of mice: study design and interim report on median lifespans and circulating IGF1 levels. Aging Cell (2009) 3.16
The role of scalp dermoscopy in the diagnosis of alopecia areata incognita. J Am Acad Dermatol (2008) 3.11
Age-related macular degeneration--a genome scan in extended families. Am J Hum Genet (2003) 2.99
A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet (2009) 2.96
CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration. Ophthalmology (2008) 2.90
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. Nature (2010) 2.85
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nat Genet (2006) 2.81
Advocacy groups as research organizations: the PXE International example. Nat Rev Genet (2007) 2.72
The International Diabetes Federation diabetes atlas methodology for estimating global and national prevalence of diabetes in adults. Diabetes Res Clin Pract (2011) 2.71
Pathbase: a database of mutant mouse pathology. Nucleic Acids Res (2004) 2.66
A nonsense mutation in the gene encoding 2'-5'-oligoadenylate synthetase/L1 isoform is associated with West Nile virus susceptibility in laboratory mice. Proc Natl Acad Sci U S A (2002) 2.65
CpG island methylator phenotype associates with low-degree chromosomal abnormalities in colorectal cancer. Clin Cancer Res (2008) 2.65
Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues. Mol Cell Biol (2005) 2.64
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry (2008) 2.60
A genomewide screen of 345 families for autism-susceptibility loci. Am J Hum Genet (2003) 2.51
Stroke incidence in rural and urban Tanzania: a prospective, community-based study. Lancet Neurol (2010) 2.50
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet (2012) 2.43
WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet (2010) 2.40
Pseudoxanthoma elasticum is a metabolic disease. J Invest Dermatol (2008) 2.35
Defining the research agenda to reduce the joint burden of disease from diabetes mellitus and tuberculosis. Trop Med Int Health (2010) 2.35
Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. Exp Dermatol (2008) 2.35
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet (2007) 2.32
Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. Am J Hum Genet (2001) 2.29
Distribution of blood pressure, body mass index and smoking habits in the urban population of Dar es Salaam, Tanzania, and associations with socioeconomic status. Int J Epidemiol (2002) 2.24
Evidence for sex-specific risk alleles in autism spectrum disorder. Am J Hum Genet (2004) 2.24
The Mouse Tumor Biology database. Nat Rev Cancer (2008) 2.15
Power and sample size calculations in the presence of phenotype errors for case/control genetic association studies. BMC Genet (2005) 2.14
Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity. J Invest Dermatol (2006) 2.14
Apparent competition, quantitative food webs, and the structure of phytophagous insect communities. Annu Rev Entomol (2006) 2.03
Genomic analysis defines a cancer-specific gene expression signature for human squamous cell carcinoma and distinguishes malignant hyperproliferation from benign hyperplasia. J Invest Dermatol (2006) 2.01
SHARPIN is an endogenous inhibitor of β1-integrin activation. Nat Cell Biol (2011) 2.01
What SNP genotyping errors are most costly for genetic association studies? Genet Epidemiol (2004) 2.00
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. Nat Genet (2008) 2.00
Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol (2008) 1.96
The tumor necrosis factor-α -238G/A and IL-6 -572G/C gene polymorphisms and the risk of idiopathic dilated cardiomyopathy: a meta-analysis of 25 studies including 9493 cases and 13,971 controls. Clin Chem Lab Med (2015) 1.96
Specialization of mutualistic interaction networks decreases toward tropical latitudes. Curr Biol (2012) 1.96
Molecular triangulation: bridging linkage and molecular-network information for identifying candidate genes in Alzheimer's disease. Proc Natl Acad Sci U S A (2004) 1.94
Aberrant mineralization of connective tissues in a mouse model of pseudoxanthoma elasticum: systemic and local regulatory factors. J Invest Dermatol (2007) 1.93
Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis. Nat Genet (2013) 1.90
Downregulation of natural killer cell-activating ligand CD155 by human cytomegalovirus UL141. Nat Immunol (2005) 1.86
Characterization of Notch3-deficient mice: normal embryonic development and absence of genetic interactions with a Notch1 mutation. Genesis (2003) 1.84
Association of genetic loci: replication or not, that is the question. Neurology (2004) 1.84
Defining dermal adipose tissue. Exp Dermatol (2014) 1.84
Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes. Hum Mol Genet (2011) 1.83
Cdcs1, a major colitogenic locus in mice, regulates innate and adaptive immune response to enteric bacterial antigens. Gastroenterology (2005) 1.81
Inducible enhancement of memory storage and synaptic plasticity in transgenic mice expressing an inhibitor of ATF4 (CREB-2) and C/EBP proteins. Neuron (2003) 1.80
Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum. Orphanet J Rare Dis (2011) 1.78
Ancient papillomavirus-host co-speciation in Felidae. Genome Biol (2007) 1.75
Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata. J Invest Dermatol (2003) 1.72
Intravenously injected recombinant human type VII collagen homes to skin wounds and restores skin integrity of dystrophic epidermolysis bullosa. J Invest Dermatol (2013) 1.72
Genetic-linkage mapping of complex hereditary disorders to a whole-genome molecular-interaction network. Genome Res (2008) 1.71
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet (2002) 1.71
Catechol-O-methyltransferase (COMT) genotypes and working memory: associations with differing cognitive operations. Biol Psychiatry (2005) 1.71
'Cyclic alopecia' in Msx2 mutants: defects in hair cycling and hair shaft differentiation. Development (2003) 1.70
Sum statistics for the joint detection of multiple disease loci in case-control association studies with SNP markers. Genet Epidemiol (2003) 1.69
Nucleotide frequency variation across human genes. Genome Res (2003) 1.68
Increased attributable risk related to a functional mu-opioid receptor gene polymorphism in association with alcohol dependence in central Sweden. Neuropsychopharmacology (2005) 1.66
The filaggrin story: novel insights into skin-barrier function and disease. Trends Mol Med (2007) 1.65
Exploring the elephant: histopathology in high-throughput phenotyping of mutant mice. Dis Model Mech (2011) 1.62
Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells. Blood (2008) 1.62
Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. J Invest Dermatol (2009) 1.62
Aberrant actin cytoskeleton leads to accelerated proliferation of corneal epithelial cells in mice deficient for destrin (actin depolymerizing factor). Hum Mol Genet (2003) 1.58
The IDF Diabetes Atlas: providing evidence, raising awareness and promoting action. Diabetes Res Clin Pract (2009) 1.58
Clinical and pathologic correlations in genetically distinct forms of atrichia. Arch Dermatol (2003) 1.57
Estimating rates of alternative splicing in mammals and invertebrates. Nat Genet (2004) 1.57
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. Am J Hum Genet (2006) 1.57