Published in PLoS Genet on November 01, 2012
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The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nat Genet (2006) 2.81
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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
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Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol (2008) 1.96
Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays. Fertil Steril (2010) 1.93
Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn (2012) 1.88
Deregulated overexpression of hCdt1 and hCdc6 promotes malignant behavior. Cancer Res (2007) 1.79
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
Karyotype versus microarray testing for genetic abnormalities after stillbirth. N Engl J Med (2012) 1.56
Genomic imbalances in pediatric patients with chronic kidney disease. J Clin Invest (2015) 1.56
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
SNP microarray-based 24 chromosome aneuploidy screening is significantly more consistent than FISH. Mol Hum Reprod (2010) 1.52
Single nucleotide polymorphism microarray-based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in preimplantation human embryos. Fertil Steril (2010) 1.49
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
Microarray analysis for constitutional cytogenetic abnormalities. Genet Med (2007) 1.30
Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). J Invest Dermatol (2004) 1.24
Use of single nucleotide polymorphism microarrays to distinguish between balanced and normal chromosomes in embryos from a translocation carrier. Fertil Steril (2011) 1.22
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
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
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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
Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder. Fertil Steril (2012) 1.09
A novel single-cell DNA fingerprinting method successfully distinguishes sibling human embryos. Fertil Steril (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
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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
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
First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy. Fertil Steril (2002) 1.00
PIG3: a novel link between oxidative stress and DNA damage response in cancer. Cancer Lett (2011) 1.00
Broken hearts, woolly hair, and tattered skin: when desmosomal adhesion goes awry. Curr Opin Cell Biol (2007) 0.99
Primary localized cutaneous amyloidosis: a sign of immune dysregulation? Int J Dermatol (2009) 0.98
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The hairless promoter is differentially regulated by thyroid hormone in keratinocytes and neuroblastoma cells. Exp Dermatol (2004) 0.96
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Transcriptional profiling of developing mouse epidermis reveals novel patterns of coordinated gene expression. Dev Dyn (2007) 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
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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
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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
Chromosome 13q neocentromeres: molecular cytogenetic characterization of three additional cases and clinical spectrum. Am J Med Genet (2002) 0.91
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
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Differential structural properties and expression patterns suggest functional significance for multiple mouse desmoglein 1 isoforms. Differentiation (2004) 0.89
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Compound heterozygous mutations in the hairless gene in atrichia with papular lesions. 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
Expression patterns of the transcription factor AP-2alpha during hair follicle morphogenesis and cycling. 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
Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis. Proc Natl Acad Sci U S A (2013) 0.88
Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene. J Dermatol Sci (2006) 0.87
A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma. Exp Dermatol (2003) 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
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Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation. Differentiation (2009) 0.86
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