PubRank

Angela M Christiano

Author PubWeight™ 118.67‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. Nature 2010 2.85
2 The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nat Genet 2006 2.81
3 Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell 2003 2.06
4 Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. Nat Genet 2008 2.00
5 Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol 2008 1.96
6 Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata. J Invest Dermatol 2003 1.72
7 Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells. Blood 2008 1.62
8 Clinical and pathologic correlations in genetically distinct forms of atrichia. Arch Dermatol 2003 1.57
9 Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata. Am J Hum Genet 2007 1.55
10 Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells. Proc Natl Acad Sci U S A 2011 1.54
11 Hairless and the polyamine putrescine form a negative regulatory loop in the epidermis. Exp Dermatol 2013 1.39
12 Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions. J Invest Dermatol 2002 1.35
13 APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature 2010 1.35
14 Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). J Invest Dermatol 2004 1.24
15 P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle. Development 2008 1.20
16 Hair follicle stem cells. J Investig Dermatol Symp Proc 2003 1.19
17 The Wnt inhibitor, Dickkopf 4, is induced by canonical Wnt signaling during ectodermal appendage morphogenesis. Dev Biol 2007 1.18
18 Activation of Notch1 in the hair follicle leads to cell-fate switch and Mohawk alopecia. Differentiation 2004 1.17
19 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
20 Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol 2002 1.15
21 Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle. Differentiation 2006 1.14
22 A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. Hum Mol Genet 2008 1.14
23 Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol 2009 1.13
24 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
25 Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet 2005 1.07
26 Niche crosstalk: intercellular signals at the hair follicle. Cell 2011 1.06
27 Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin. J Dermatol Sci 2007 1.06
28 Delineation of diversified desmoglein distribution in stratified squamous epithelia: implications in diseases. Exp Dermatol 2006 1.06
29 Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Genomics 2012 1.04
30 Novel molecular therapies for heritable skin disorders. J Invest Dermatol 2011 1.03
31 Generation of 3D skin equivalents fully reconstituted from human induced pluripotent stem cells (iPSCs). PLoS One 2013 1.03
32 Genetic basis of alopecia areata: a roadmap for translational research. Dermatol Clin 2012 1.03
33 KGF and EGF signalling block hair follicle induction and promote interfollicular epidermal fate in developing mouse skin. Development 2009 1.03
34 Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. Prenat Diagn 2003 1.02
35 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
36 Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia. J Invest Dermatol 2007 1.01
37 Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. J Invest Dermatol 2006 1.00
38 Broken hearts, woolly hair, and tattered skin: when desmosomal adhesion goes awry. Curr Opin Cell Biol 2007 0.99
39 Biology and genetics of hair. Annu Rev Genomics Hum Genet 2010 0.97
40 The hairless promoter is differentially regulated by thyroid hormone in keratinocytes and neuroblastoma cells. Exp Dermatol 2004 0.96
41 Transcriptional profiling of developing mouse epidermis reveals novel patterns of coordinated gene expression. Dev Dyn 2007 0.96
42 De novo mutations in monilethrix. Exp Dermatol 2003 0.96
43 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
44 Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. J Dermatol Sci 2009 0.95
45 Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1. Am J Hum Genet 2011 0.95
46 Loss of hairless confers susceptibility to UVB-induced tumorigenesis via disruption of NF-kappaB signaling. PLoS One 2012 0.94
47 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
48 The WNT signalling modulator, Wise, is expressed in an interaction-dependent manner during hair-follicle cycling. J Invest Dermatol 2004 0.92
49 Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation. Genomics 2008 0.92
50 Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis. PLoS Genet 2012 0.92
51 Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. J Am Acad Dermatol 2005 0.91
52 Evidence for extensive locus heterogeneity in Naxos disease. J Invest Dermatol 2002 0.91
53 Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis. Development 2011 0.90
54 Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene. Lab Anim 2002 0.90
55 Reprogramming of human hair follicle dermal papilla cells into induced pluripotent stem cells. J Invest Dermatol 2012 0.90
56 Differential structural properties and expression patterns suggest functional significance for multiple mouse desmoglein 1 isoforms. Differentiation 2004 0.89
57 Genetics of structural hair disorders. J Invest Dermatol 2012 0.89
58 Smad4-dependent desmoglein-4 expression contributes to hair follicle integrity. Dev Biol 2008 0.89
59 The role of BMP signalling in the control of ID3 expression in the hair follicle. Exp Dermatol 2004 0.88
60 The spectrum of hair loss in patients with mycosis fungoides and Sézary syndrome. J Am Acad Dermatol 2010 0.88
61 Expression patterns of the transcription factor AP-2alpha during hair follicle morphogenesis and cycling. J Invest Dermatol 2003 0.88
62 Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia. J Invest Dermatol 2009 0.88
63 Dynamic expression of the zinc-finger transcription factor Trps1 during hair follicle morphogenesis and cycling. Gene Expr Patterns 2007 0.88
64 Compound heterozygous mutations in the hairless gene in atrichia with papular lesions. J Invest Dermatol 2003 0.88
65 Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis. Proc Natl Acad Sci U S A 2013 0.88
66 A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma. Exp Dermatol 2003 0.87
67 Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene. J Dermatol Sci 2006 0.87
68 Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene. Exp Dermatol 2008 0.87
69 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
70 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
71 Pumpless microfluidic platform for drug testing on human skin equivalents. Lab Chip 2015 0.86
72 Hairless contains a novel nuclear matrix targeting signal and associates with histone deacetylase 3 in nuclear speckles. Differentiation 2004 0.86
73 Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation. Differentiation 2009 0.86
74 Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: A lesson for differential diagnosis of alopecia universalis. J Am Acad Dermatol 2002 0.86
75 Bone marrow stem cell therapy for recessive dystrophic epidermolysis bullosa. Dermatol Clin 2010 0.85
76 Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families. J Dermatol Sci 2009 0.85
77 A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. J Invest Dermatol 2004 0.85
78 Mutations in the hairless gene underlie APL in three families of Pakistani origin. J Dermatol Sci 2008 0.84
79 Hairless is a histone H3K9 demethylase. FASEB J 2013 0.84
80 Identification of a novel splice site mutation in the human hairless gene underlying atrichia with papular lesions. Eur J Dermatol 2005 0.84
81 Interaction of hairless and thyroid hormone receptor is not involved in the pathogenesis of atrichia with papular lesions. Exp Dermatol 2004 0.83
82 Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions. J Dermatol Sci 2005 0.83
83 Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A gene. J Hum Genet 2013 0.83
84 The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene. Genomics 2004 0.83
85 Nothing but skin and bone. J Clin Invest 2006 0.82
86 A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. J Invest Dermatol 2005 0.82
87 Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome. Dermatology 2009 0.82
88 A nonsense mutation in the SCN9A gene in congenital insensitivity to pain. Dermatology 2010 0.82
89 The genetics of alopecia areata: What's new and how will it help our patients? Dermatol Ther 2011 0.82
90 Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats. J Investig Dermatol Symp Proc 2005 0.81
91 Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma. J Dermatol Sci 2009 0.81
92 Building a microphysiological skin model from induced pluripotent stem cells. Stem Cell Res Ther 2013 0.81
93 A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance. J Hum Genet 2011 0.80
94 EB simplex superficialis resulting from a mutation in the type VII collagen gene. J Invest Dermatol 2002 0.80
95 Evidence for pseudodominant inheritance of atrichia with papular lesions. J Invest Dermatol 2002 0.80
96 A spontaneous mutation in the desmoglein 4 gene underlies hypotrichosis in a new lanceolate hair rat model. Differentiation 2004 0.80
97 A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect. J Invest Dermatol 2003 0.79
98 Rapid prenatal diagnosis of sickle cell diseases using oligonucleotide ligation assay coupled with laser-induced capillary fluorescence detection. Prenat Diagn 2002 0.79
99 Genetic linkage studies in alopecia areata. J Investig Dermatol Symp Proc 2003 0.79
100 Ligand-independent regulation of the hairless promoter by vitamin D receptor. Photochem Photobiol 2008 0.79
101 Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo "hairless" rat. Differentiation 2004 0.79
102 Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome. Dermatology 2012 0.79
103 Hairless and NFκB form a positive feedback loop after UVB and TNFα stimulation. Photochem Photobiol 2012 0.79
104 Morphological approach to hair disorders. J Investig Dermatol Symp Proc 2003 0.78
105 Unveiling the roots of monogenic genodermatoses: genotrichoses as a paradigm. J Invest Dermatol 2011 0.78
106 Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2). J Dermatol Sci 2010 0.78
107 Genomic organization and analysis of the hairless gene in four hypotrichotic rat strains. Mamm Genome 2004 0.78
108 A glycine substitution in the COL7A1 gene causes mild RDEB in a Pakistani family. Eur J Dermatol 2007 0.77
109 Recapitulation of the hairless mouse phenotype using catalytic oligonucleotides: implications for permanent hair removal. Exp Dermatol 2004 0.77
110 The genetic architecture of alopecia areata. J Investig Dermatol Symp Proc 2013 0.77
111 There and back again: hair follicle stem cell dynamics. Cell Stem Cell 2011 0.77
112 Regenerative medicine and hair loss: how hair follicle culture has advanced our understanding of treatment options for androgenetic alopecia. Regen Med 2014 0.77
113 Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa. Exp Dermatol 2002 0.77
114 A common founder mutation in the EDA-A1 gene in X-linked hypodontia. Dermatology 2010 0.77
115 NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis. Dermatology 2009 0.77
116 Progress in epidermolysis bullosa: summary of a workshop in CILAD-2010*. Int J Dermatol 2012 0.76
117 Inherited disorders of the skin in human and mouse: from development to differentiation. Int J Dev Biol 2004 0.76
118 Keratin 71 mutations: from water dogs to woolly hair. J Invest Dermatol 2012 0.76
119 Genomic organization of mouse desmocollin genes reveals evolutionary conservation. DNA Seq 2004 0.76
120 The national alopecia areata registry-update. J Investig Dermatol Symp Proc 2013 0.75
121 Strategy to assess the efficiency of U1 RNA-hammerhead ribozyme constructs using GFP-tagged targets. Exp Dermatol 2003 0.75
122 Alopecia and generalized papular lesions in an adolescent female. Pediatr Dermatol 2012 0.75
123 An unusual case of infiltrating basal cell carcinoma. Dermatol Surg 2011 0.75
124 Introduction to innovations in the immunology and clinical science of alopecia areata. J Investig Dermatol Symp Proc 2013 0.75
125 Atrichia with papular lesions resulting from novel compound heterozygous mutations in the human hairless gene. Pediatr Dermatol 2007 0.75
126 [Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia]. Rev Med Chil 2012 0.75
127 Search for susceptibility genes in alopecia areata. J Investig Dermatol Symp Proc 2005 0.75