Published in J Am Acad Dermatol on October 01, 2002
Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin. J Dermatol Sci (2007) 1.06
Mutations in the hairless gene underlie APL in three families of Pakistani origin. J Dermatol Sci (2008) 0.84
Ligand-independent regulation of the hairless promoter by vitamin D receptor. Photochem Photobiol (2008) 0.79
Detection of a novel missense mutations in atrichia with papular lesions. Ann Dermatol (2011) 0.75
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70
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
The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. J Am Acad Dermatol (2008) 2.29
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell (2003) 2.06
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
Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum (2012) 1.87
Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata. J Invest Dermatol (2003) 1.72
Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells. Blood (2008) 1.62
Clinical and pathologic correlations in genetically distinct forms of atrichia. Arch Dermatol (2003) 1.57
Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata. Am J Hum Genet (2007) 1.55
Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells. Proc Natl Acad Sci U S A (2011) 1.54
Hairless and the polyamine putrescine form a negative regulatory loop in the epidermis. Exp Dermatol (2013) 1.39
Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions. J Invest Dermatol (2002) 1.35
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature (2010) 1.35
Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). J Invest Dermatol (2004) 1.24
P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle. Development (2008) 1.20
Hair follicle stem cells. J Investig Dermatol Symp Proc (2003) 1.19
The Wnt inhibitor, Dickkopf 4, is induced by canonical Wnt signaling during ectodermal appendage morphogenesis. Dev Biol (2007) 1.18
Identification of two novel human acyl-CoA wax alcohol acyltransferases: members of the diacylglycerol acyltransferase 2 (DGAT2) gene superfamily. J Biol Chem (2005) 1.17
Activation of Notch1 in the hair follicle leads to cell-fate switch and Mohawk alopecia. Differentiation (2004) 1.17
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a case report. Pediatr Dermatol (2010) 1.17
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol (2002) 1.15
Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle. Differentiation (2006) 1.14
A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. Hum Mol Genet (2008) 1.14
Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol (2009) 1.13
The H syndrome is caused by mutations in the nucleoside transporter hENT3. Am J Hum Genet (2008) 1.11
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
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet (2005) 1.07
Niche crosstalk: intercellular signals at the hair follicle. Cell (2011) 1.06
Delineation of diversified desmoglein distribution in stratified squamous epithelia: implications in diseases. Exp Dermatol (2006) 1.06
Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin. J Dermatol Sci (2007) 1.06
Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Genomics (2012) 1.04
Novel molecular therapies for heritable skin disorders. J Invest Dermatol (2011) 1.03
Generation of 3D skin equivalents fully reconstituted from human induced pluripotent stem cells (iPSCs). PLoS One (2013) 1.03
Genetic basis of alopecia areata: a roadmap for translational research. Dermatol Clin (2012) 1.03
KGF and EGF signalling block hair follicle induction and promote interfollicular epidermal fate in developing mouse skin. Development (2009) 1.03
A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis. Exp Dermatol (2005) 1.02
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. Prenat Diagn (2003) 1.02
Microenvironmental reprogramming by three-dimensional culture enables dermal papilla cells to induce de novo human hair-follicle growth. Proc Natl Acad Sci U S A (2013) 1.02
Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia. J Invest Dermatol (2007) 1.01
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. J Invest Dermatol (2006) 1.00
An extraordinary colocalization of alopecia areata and vitiligo. Int J Trichology (2010) 0.99
Broken hearts, woolly hair, and tattered skin: when desmosomal adhesion goes awry. Curr Opin Cell Biol (2007) 0.99
Biology and genetics of hair. Annu Rev Genomics Hum Genet (2010) 0.97
Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation. Acta Derm Venereol (2009) 0.96
The hairless promoter is differentially regulated by thyroid hormone in keratinocytes and neuroblastoma cells. Exp Dermatol (2004) 0.96
Transcriptional profiling of developing mouse epidermis reveals novel patterns of coordinated gene expression. Dev Dyn (2007) 0.96
De novo mutations in monilethrix. Exp Dermatol (2003) 0.96
Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Am J Hum Genet (2010) 0.95
Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. J Dermatol Sci (2009) 0.95
Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1. Am J Hum Genet (2011) 0.95
Loss of hairless confers susceptibility to UVB-induced tumorigenesis via disruption of NF-kappaB signaling. PLoS One (2012) 0.94
Multiple cutaneous and uterine leiomyomas: refinement of the genetic locus for multiple cutaneous and uterine leiomyomas on chromosome 1q42.3-43. J Invest Dermatol (2002) 0.93
The WNT signalling modulator, Wise, is expressed in an interaction-dependent manner during hair-follicle cycling. J Invest Dermatol (2004) 0.92
Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation. Genomics (2008) 0.92
Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis. PLoS Genet (2012) 0.92
Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. J Am Acad Dermatol (2005) 0.91
Evidence for extensive locus heterogeneity in Naxos disease. J Invest Dermatol (2002) 0.91
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Invest (2015) 0.90
Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis. Development (2011) 0.90
Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene. Lab Anim (2002) 0.90
Atrichia with papular lesions: a report of three novel human hairless gene mutations and a revision of diagnostic criteria. Acta Derm Venereol (2008) 0.90
Reprogramming of human hair follicle dermal papilla cells into induced pluripotent stem cells. J Invest Dermatol (2012) 0.90
Differential structural properties and expression patterns suggest functional significance for multiple mouse desmoglein 1 isoforms. Differentiation (2004) 0.89
Smad4-dependent desmoglein-4 expression contributes to hair follicle integrity. Dev Biol (2008) 0.89
Genetics of structural hair disorders. J Invest Dermatol (2012) 0.89
The role of BMP signalling in the control of ID3 expression in the hair follicle. Exp Dermatol (2004) 0.88
The spectrum of hair loss in patients with mycosis fungoides and Sézary syndrome. J Am Acad Dermatol (2010) 0.88
Compound heterozygous mutations in the hairless gene in atrichia with papular lesions. J Invest Dermatol (2003) 0.88
Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia. J Invest Dermatol (2009) 0.88
Expression patterns of the transcription factor AP-2alpha during hair follicle morphogenesis and cycling. J Invest Dermatol (2003) 0.88
Dynamic expression of the zinc-finger transcription factor Trps1 during hair follicle morphogenesis and cycling. Gene Expr Patterns (2007) 0.88
Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis. Proc Natl Acad Sci U S A (2013) 0.88
A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma. Exp Dermatol (2003) 0.87
Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene. J Dermatol Sci (2006) 0.87
Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene. Exp Dermatol (2008) 0.87
Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. J Invest Dermatol (2007) 0.87
Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data. J Investig Dermatol Symp Proc (2013) 0.87
Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation. Differentiation (2009) 0.86