Published in Semin Cell Dev Biol on December 17, 2013
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Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature (2000) 3.61
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Epithelial stem cells: a folliculocentric view. J Invest Dermatol (2006) 3.49
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet (2000) 3.39
Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. Am J Hum Genet (2000) 3.16
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet (2008) 3.00
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Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet (2000) 2.85
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. Nat Genet (2004) 2.54
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet (2000) 2.48
Inflammatory skin and bowel disease linked to ADAM17 deletion. N Engl J Med (2011) 2.41
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet (2000) 2.39
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet (1999) 2.29
Alopecia universalis associated with a mutation in the human hairless gene. Science (1998) 2.23
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet (2000) 2.23
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science (1988) 2.15
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet (2003) 2.10
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
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. Gastroenterology (2004) 1.98
Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature (2002) 1.95
Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat Genet (1998) 1.91
Hoxc13 mutant mice lack external hair. Genes Dev (1998) 1.84
Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. Am J Hum Genet (2007) 1.82
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet (2000) 1.80
An unusual Ala12Thr polymorphism in the 1A alpha-helical segment of the companion layer-specific keratin K6hf: evidence for a risk factor in the etiology of the common hair disorder pseudofolliculitis barbae. J Invest Dermatol (2004) 1.72
Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. Science (2006) 1.71
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet (1997) 1.68
Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome. Hum Mol Genet (1998) 1.68
Biology of the hair follicle: the basics. Semin Cutan Med Surg (2006) 1.63
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. Am J Hum Genet (2007) 1.56
Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. Nat Genet (2001) 1.53
A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. J Invest Dermatol (2012) 1.51
The hair follicle-a stem cell zoo. Exp Cell Res (2010) 1.46
Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet (2000) 1.42
Mesenchymal-epithelial interactions during hair follicle morphogenesis and cycling. Semin Cell Dev Biol (2012) 1.41
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. Am J Hum Genet (1997) 1.40
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature (2010) 1.35
Keratins of the human hair follicle. Int Rev Cytol (2005) 1.34
Keratin function in skin epithelia: a broadening palette with surprising shades. Curr Opin Cell Biol (2006) 1.34
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. J Invest Dermatol (2006) 1.33
Dlx3 is a crucial regulator of hair follicle differentiation and cycling. Development (2008) 1.32
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet (2009) 1.31
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. Am J Hum Genet (2008) 1.27
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. J Med Genet (2005) 1.26
Exposing the human nude phenotype. Nature (1999) 1.26
Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nat Genet (1997) 1.25
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. Am J Hum Genet (2009) 1.23
Hairy tale of signaling in hair follicle development and cycling. Semin Cell Dev Biol (2012) 1.22
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol (2002) 1.15
TP63 gene mutation in ADULT syndrome. Eur J Hum Genet (2001) 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
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
ALX4 dysfunction disrupts craniofacial and epidermal development. Hum Mol Genet (2009) 1.12
Mutations in ANTXR1 cause GAPO syndrome. Am J Hum Genet (2013) 1.11
The H syndrome is caused by mutations in the nucleoside transporter hENT3. Am J Hum Genet (2008) 1.11
Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). J Med Genet (2005) 1.10
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. Am J Hum Genet (1996) 1.09
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. Am J Hum Genet (2009) 1.09
Atrichia with papular lesions resulting from a nonsense mutation within the human hairless gene. J Invest Dermatol (1999) 1.08
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet (2005) 1.07
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat Genet (2003) 1.07
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am J Hum Genet (2008) 1.05
Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. J Dent Res (2003) 1.03
Homeobox gene Dlx3 is regulated by p63 during ectoderm development: relevance in the pathogenesis of ectodermal dysplasias. Development (2007) 1.02
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
Epidermal patterning and induction of different hair types during mouse embryonic development. Birth Defects Res C Embryo Today (2009) 0.95
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. Hum Mutat (2007) 0.95
The nude mouse skin phenotype: the role of Foxn1 in hair follicle development and cycling. Exp Mol Pathol (2001) 0.94
Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia. Am J Hum Genet (2012) 0.94
A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. J Med Genet (2006) 0.93
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. Hum Mutat (2010) 0.93
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. Am J Hum Genet (2009) 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
A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1. J Invest Dermatol (1998) 0.91
Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. Hum Genet (2010) 0.90
Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis. Proc Natl Acad Sci U S A (2013) 0.88
Gene ontology analysis of human hair follicle bulge molecular signature. J Dermatol Sci (2006) 0.81
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. Am J Hum Genet (2012) 0.78