Angela M Christiano

Summary

Affiliation: Columbia University
Country: USA

Publications

  1. ncbi request reprint The hairless promoter is differentially regulated by thyroid hormone in keratinocytes and neuroblastoma cells
    Andrew Engelhard
    Department of Dermatology, Columbia University, New York, NY 10032, USA
    Exp Dermatol 13:257-64. 2004
  2. pmc Hairless is a histone H3K9 demethylase
    Liang Liu
    2Department of Dermatology, Columbia University, College of Physicians and Surgeons, Russ Berrie Medical Science Pavilion, 1150 St Nicholas Ave, Rm 307, New York, NY 10032, USA
    FASEB J 28:1534-42. 2014
  3. doi request reprint Hair follicle epithelial stem cells get their sox on
    Angela M Christiano
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
    Cell Stem Cell 3:3-4. 2008
  4. ncbi request reprint Frontiers in keratodermas: pushing the envelope
    A M Christiano
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
    Trends Genet 13:227-33. 1997
  5. pmc Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation
    Lynn Petukhova
    Department of Dermatology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Genomics 92:273-8. 2008
  6. pmc APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
    Yutaka Shimomura
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, 630 West 168th Street, VC15 204a, New York, New York 10032, USA
    Nature 464:1043-7. 2010
  7. pmc Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome
    Rita M Cabral
    Department of Dermatology, Columbia University, Russ Berrie Medical Science Pavilion, New York, NY 10032, USA
    Genomics 99:202-8. 2012
  8. doi request reprint Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis
    Yutaka Shimomura
    Department of Dermatology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    J Invest Dermatol 129:622-8. 2009
  9. ncbi request reprint Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata
    Gary S Chuang
    Department of Dermatology, Columbia University, New York, New York, USA
    J Am Acad Dermatol 52:410-6. 2005
  10. doi request reprint Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair
    Yutaka Shimomura
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, 630 West 168th Street, VC15 204a, New York, New York 10032, USA
    Nat Genet 40:335-9. 2008

Research Grants

  1. MOLECULAR GENETICS OF THE KERATODERMAS
    Angela Christiano; Fiscal Year: 2002
  2. Epithelial Reprogramming
    Angela Christiano; Fiscal Year: 2003
  3. GENE INHIBITION STRATEGIES FOR HAIR REMOVAL
    Angela Christiano; Fiscal Year: 2004
  4. 2005 Epithelial Differentiation Keratinization-GRC
    Angela Christiano; Fiscal Year: 2005
  5. MOLECULAR GENETICS OF THE KERATODERMAS
    Angela Christiano; Fiscal Year: 2008
  6. GENETIC ANALYSIS OF ALOPECIA AREATA
    Angela Christiano; Fiscal Year: 2009

Detail Information

Publications115 found, 100 shown here

  1. ncbi request reprint The hairless promoter is differentially regulated by thyroid hormone in keratinocytes and neuroblastoma cells
    Andrew Engelhard
    Department of Dermatology, Columbia University, New York, NY 10032, USA
    Exp Dermatol 13:257-64. 2004
    ..These findings illustrate a molecular distinction between the regulation of hr expression in defined cell populations...
  2. pmc Hairless is a histone H3K9 demethylase
    Liang Liu
    2Department of Dermatology, Columbia University, College of Physicians and Surgeons, Russ Berrie Medical Science Pavilion, 1150 St Nicholas Ave, Rm 307, New York, NY 10032, USA
    FASEB J 28:1534-42. 2014
    ..Our findings demonstrate for the first time that HR is a H3K9 demethylase that regulates epidermal homeostasis via direct control of its target genes...
  3. doi request reprint Hair follicle epithelial stem cells get their sox on
    Angela M Christiano
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
    Cell Stem Cell 3:3-4. 2008
    ..In this issue of Cell Stem Cell, Nowak et al. (2008) implicate Sox9 in the specification of early hair follicle stem cells and subsequent epithelial lineages...
  4. ncbi request reprint Frontiers in keratodermas: pushing the envelope
    A M Christiano
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
    Trends Genet 13:227-33. 1997
    ....
  5. pmc Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation
    Lynn Petukhova
    Department of Dermatology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Genomics 92:273-8. 2008
    ..Our findings show that mutations in P2RY5 display variable expressivity, underlying both hypotrichosis and woolly hair, and underscore the essential role of P2RY5 in the tissue integrity and maintenance of the hair follicle...
  6. pmc APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
    Yutaka Shimomura
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, 630 West 168th Street, VC15 204a, New York, New York 10032, USA
    Nature 464:1043-7. 2010
    ..As APCDD1 is expressed in a broad repertoire of cell types, our findings indicate that APCDD1 may regulate a diversity of biological processes controlled by Wnt signalling...
  7. pmc Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome
    Rita M Cabral
    Department of Dermatology, Columbia University, Russ Berrie Medical Science Pavilion, New York, NY 10032, USA
    Genomics 99:202-8. 2012
    ..This is the first report describing a mutation as the cause of PSS type A...
  8. doi request reprint Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis
    Yutaka Shimomura
    Department of Dermatology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    J Invest Dermatol 129:622-8. 2009
    ..These results show that LIPH is a second causative gene for ARWH/hypotrichosis, giving rise to a phenotype clinically indistinguishable from P2RY5 mutations...
  9. ncbi request reprint Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata
    Gary S Chuang
    Department of Dermatology, Columbia University, New York, New York, USA
    J Am Acad Dermatol 52:410-6. 2005
    ..Collectively, identification of 5 novel and 3 recurrent mutations further supports the role of FH in the pathogenesis of MCL...
  10. doi request reprint Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair
    Yutaka Shimomura
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, 630 West 168th Street, VC15 204a, New York, New York 10032, USA
    Nat Genet 40:335-9. 2008
    ..Our findings indicate that disruption of P2RY5 underlies ARWH and, more broadly, uncover a new gene involved in determining hair texture in humans...
  11. pmc Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture
    Yutaka Shimomura
    Department of Dermatology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
    Am J Hum Genet 86:632-8. 2010
    ....
  12. pmc Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis
    Katherine A Fantauzzo
    Department of Dermatology, Columbia University, New York, NY 10032, USA
    Development 139:203-14. 2012
    ..Our findings identify Trps1 as a novel regulator of the Wnt signaling pathway and of early hair follicle progenitors in the developing vibrissa follicle...
  13. pmc Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin
    Hyunmi Kim
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, 630 West 168th Street VC15 204A, New York, NY 10032, United States
    J Dermatol Sci 48:207-11. 2007
    ..In addition to total atrichia, APL patients also present with papules and follicular cysts filled with cornified material. Mutations in the Hairless (HR) gene have been shown to underlie APL...
  14. doi request reprint P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle
    Yutaka Shimomura
    Department of Dermatology, Columbia University, New York, NY 10032, USA
    Development 135:743-53. 2008
    ..We conclude that P-cadherin is a newly defined transcriptional target gene of p63, with a crucial role in hair follicle morphogenesis as well as the AER during limb bud outgrowth in humans, whereas it is not required for either in mice...
  15. pmc A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
    Katherine A Fantauzzo
    Department of Genetics and Development, Columbia University, New York, NY 10032, USA
    Hum Mol Genet 17:3539-51. 2008
    ..Collectively, these results describe a position effect that downregulates TRPS1 expression as the probable cause of hypertrichosis in AS in humans and the Koa phenotype in mice...
  16. pmc Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis
    Gina M Destefano
    Departments of Genetics and Development, Columbia University, New York, NY, USA
    Proc Natl Acad Sci U S A 110:7790-5. 2013
    ..Taken together, our findings suggest a role for FGF13 in hair follicle growth and in the hair cycle...
  17. pmc Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome
    Mazen Kurban
    Department of Dermatology, Columbia University, New York, N Y, USA
    Dermatology 219:289-94. 2009
    ..The condition is caused by mutations in the cathepsin C (CTSC) gene...
  18. pmc Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis
    Katherine A Fantauzzo
    Department of Dermatology, Columbia University, New York, NY, USA
    PLoS Genet 8:e1003002. 2012
    ..Our findings uncover a novel transcriptional hierarchy that regulates epithelial proliferation in the developing hair follicle and contributes to the pathology of hypertrichosis...
  19. doi request reprint Hairless and NFκB form a positive feedback loop after UVB and TNFα stimulation
    Alexandre Casta
    Department of Dermatology, Columbia University, New York, NY, USA
    Photochem Photobiol 88:1173-83. 2012
    ..Therefore, we show for the first time that HR and NFκB participate in a positive feedback loop that can be initiated either by UVB or TNFα...
  20. pmc The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis
    Lynn Petukhova
    Department of Dermatology, School of Public Health, Columbia University, New York, N Y 10032, USA
    Hum Hered 68:117-30. 2009
    ..We suggest that the validity of the IBD assumption may be challenged in large consanguineous families...
  21. doi request reprint Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families
    Muhammad Wajid
    Department of Dermatology, Columbia University, New York, NY, United States
    J Dermatol Sci 56:27-32. 2009
    ....
  22. ncbi request reprint Dynamic expression of the zinc-finger transcription factor Trps1 during hair follicle morphogenesis and cycling
    Katherine A Fantauzzo
    Department of Genetics and Development, Columbia University, New York, NY, USA
    Gene Expr Patterns 8:51-7. 2008
    ..Additionally, we found that Trps1 consistently localized to the nuclei of dermal papillae cells and the highly proliferative epithelial cells of mouse, rat and human hair follicles...
  23. pmc Genome-wide association study in alopecia areata implicates both innate and adaptive immunity
    Lynn Petukhova
    Department of Dermatology, Columbia University, New York, New York 10032, USA
    Nature 466:113-7. 2010
    ..We have defined the genetic underpinnings of AA, placing it within the context of shared pathways among autoimmune diseases, and implicating a novel disease mechanism, the upregulation of ULBP ligands, in triggering autoimmunity...
  24. pmc Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma
    Martha B Dua-Awereh
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, 630 West 168th Street VC 1526, New York, NY 10032, United States
    J Dermatol Sci 53:192-7. 2009
    ..SPPK is known to be caused by heterozygous mutations in either the desmoglein 1 (DSG1), desmoplakin (DSP), or keratin 1 (KRT1) genes...
  25. pmc Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation
    Hisham Bazzi
    Departments of Genetics and Development, Columbia University, New York, NY 10032, USA
    Differentiation 78:292-300. 2009
    ..We show that HOXC13, LEF1 and FOXN1 repress DSG4 transcription and provide in vitro and in vivo evidence correlating the Notch pathway with the activation and/or maintenance of DSG4 expression in the hair follicle...
  26. pmc NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis
    Muhammad Wajid
    Department of Dermatology, Columbia University, New York, NY 10032, USA
    Dermatology 220:8-14. 2010
    ..The last type is uncommon since newborns with harlequin ichthyosis usually die shortly after birth. Several genes have been linked to ARCI, but these represent only 60% of the known genetic causes of this condition...
  27. ncbi request reprint Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo "hairless" rat
    Hisham Bazzi
    Department of Genetics and Development, Columbia University, New York, NY 10032, USA
    Differentiation 72:450-64. 2004
    ..Our results elucidate the genetic and morphological basis of the IC rat mutation, thus providing a new model to study molecular mechanisms of hair growth control...
  28. pmc Molecular signatures define alopecia areata subtypes and transcriptional biomarkers
    Ali Jabbari
    Department of Dermatology, Columbia University, New York, NY, USA
    EBioMedicine 7:240-7. 2016
    ....
  29. ncbi request reprint Genomic organization and analysis of the hairless gene in four hypotrichotic rat strains
    Hyunmi Kim
    Departments of Genetics and Development, Columbia University, New York, New York 10032, USA
    Mamm Genome 15:975-81. 2004
    ..Despite their designation as "hairless," no mutations within the coding sequences were identified, indicating that the "hairless" phenotype in all four hypotrichotic rat strains are not allelic with hr...
  30. pmc Microenvironmental reprogramming by three-dimensional culture enables dermal papilla cells to induce de novo human hair-follicle growth
    Claire A Higgins
    Departments of Dermatology, Genetics and Development, and Systems Biology, Columbia University, New York, NY 10032
    Proc Natl Acad Sci U S A 110:19679-88. 2013
    ..This signature change translates to a partial restoration of inductive capability, and we show that human dermal papilla cells, when grown as spheroids, are capable of inducing de novo hair follicles in human skin. ..
  31. ncbi request reprint Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia
    Yoshiyuki Ishii
    Department of Dermatology, Columbia University, New York, New York, USA
    J Invest Dermatol 128:867-70. 2008
    ..5 (e14.5). These findings expand our understanding of the role of RSPO4 in nail development and disease...
  32. pmc Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene
    Yutaka Shimomura
    Department of Dermatology, Columbia University, New York, NY 10032, USA
    Exp Dermatol 18:218-21. 2009
    ..Our findings extend the mutation spectrum of P2RY5 mutations, and further support a crucial role of P2Y5 in hair growth in humans...
  33. pmc Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis
    Yutaka Shimomura
    Department of Dermatology, Columbia University, New York, New York, USA
    J Invest Dermatol 129:1927-34. 2009
    ..Our results further suggest a crucial role of LIPH gene in hair growth...
  34. ncbi request reprint Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats
    Hisham Bazzi
    Departments of Dermatology and Genetics and Development, Columbia University, New York, New York, USA
    J Investig Dermatol Symp Proc 10:222-4. 2005
    ..Together, these models provide new information about the role of desmosomal cadherins in disease, and serve as in vivo models for functional and mechanistic studies into the role of desmoglein 4 in the skin and hair follicle...
  35. ncbi request reprint Transcriptional profiling of developing mouse epidermis reveals novel patterns of coordinated gene expression
    Hisham Bazzi
    Departments of Genetics and Development, Columbia University, New York, New York 10032, USA
    Dev Dyn 236:961-70. 2007
    ..Our observations reveal a coordinated mode of expression of the SSC genes as well as the correlation of their initiation in the nasal epithelium with the initiation of barrier formation at this site...
  36. pmc A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance
    Mazen Kurban
    Department of Dermatology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    J Hum Genet 56:701-6. 2011
    ....
  37. ncbi request reprint Atrichia with papular lesions resulting from novel compound heterozygous mutations in the human hairless gene
    Eleni Michailidis
    College of Dental Medicine, Columbia University, New York, New York, USA
    Pediatr Dermatol 24:E79-82. 2007
    ..These novel mutations add to the growing literature of mutations in the hairless gene found in nonconsanguineous families and expands the allelic series of mutations in this gene...
  38. ncbi request reprint A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma
    Ana Kljuic
    Department of Genetics and Development, Columbia University, New York, NY, USA
    Exp Dermatol 12:523-7. 2003
    ..The mutation identified in this study is a novel mutation in the DSG1 gene and extends the body of evidence implicating the desmoglein gene family in the pathogenesis of human skin disorders...
  39. ncbi request reprint Inherited disorders of the skin in human and mouse: from development to differentiation
    Ryan F L O'Shaughnessy
    Departments of Dermatology and Genetics and Development, Columbia University, New York, NY 10032, USA
    Int J Dev Biol 48:171-9. 2004
    ..Finally, the increasing range of diseases and mouse models exhibiting alopecias are revealing the critical pathways in control of the hair follicle cycle...
  40. ncbi request reprint Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle
    Hisham Bazzi
    Department of Genetics and Development, Columbia University, New York, NY 10032, USA
    Differentiation 74:129-40. 2006
    ....
  41. pmc Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata
    Amalia Martinez-Mir
    Department of Dermatology, Columbia University, New York, NY 10032, USA
    Am J Hum Genet 80:316-28. 2007
    ..Interestingly, the major loci on chromosomes 16 and 18 coincide with loci for psoriasis reported elsewhere. These results suggest that these regions may harbor gene(s) involved in a number of different skin and hair disorders...
  42. pmc Ligand-independent regulation of the hairless promoter by vitamin D receptor
    Andrew Engelhard
    Department of Dermatology, Columbia University, New York, NY, USA
    Photochem Photobiol 84:515-21. 2008
    ....
  43. pmc Generation of 3D skin equivalents fully reconstituted from human induced pluripotent stem cells (iPSCs)
    Munenari Itoh
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, New York, United States of America
    PLoS ONE 8:e77673. 2013
    ....
  44. pmc A common founder mutation in the EDA-A1 gene in X-linked hypodontia
    Mazen Kurban
    Department of Dermatology, Columbia University, New York, N Y, USA
    Dermatology 221:243-7. 2010
    ..Mutations in the EDA-A1 gene have been associated with XLHED. Recently, mutations in the EDA-A1 gene have also been implicated in isolated X-linked recessive hypodontia (XLRH; OMIM 313500)...
  45. pmc Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells
    Munenari Itoh
    Departments of Dermatology, Columbia University, New York, NY 10032, USA
    Proc Natl Acad Sci U S A 108:8797-802. 2011
    ..Our studies indicate that autologous iPSCs have the potential to provide a source of cells for regenerative therapies for specific skin diseases...
  46. ncbi request reprint Recapitulation of the hairless mouse phenotype using catalytic oligonucleotides: implications for permanent hair removal
    Peter B Cserhalmi-Friedman
    Department of Dermatology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    Exp Dermatol 13:155-62. 2004
    ..Our results demonstrate the feasibility of using ribozyme technology to alter the gene expression in the skin via topical application and provide proof of principle for the development of this strategy for permanent hair removal...
  47. pmc Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1
    Maija Kiuru
    Department of Dermatology, Columbia University, New York, NY 10032, USA
    Am J Hum Genet 88:839-44. 2011
    ..Furthermore, mutations detected in PLCD1 resulted in reduced enzymatic activity in vitro. Our data show that mutations in PLCD1 underlie hereditary leukonychia, revealing a gene involved in molecular control of nail growth...
  48. pmc Broken hearts, woolly hair, and tattered skin: when desmosomal adhesion goes awry
    Hisham Bazzi
    Department of Dermatology, Columbia University, New York, NY, USA
    Curr Opin Cell Biol 19:515-20. 2007
    ..In this review, we focus on new developments in desmosomal adhesion with an emphasis on the skin, hair, and heart...
  49. ncbi request reprint Activation of Notch1 in the hair follicle leads to cell-fate switch and Mohawk alopecia
    Hendrik Uyttendaele
    Department of Dermatology, Columbia University, New York, NY 10032, USA
    Differentiation 72:396-409. 2004
    ....
  50. pmc CXCR3 Blockade Inhibits T Cell Migration into the Skin and Prevents Development of Alopecia Areata
    Zhenpeng Dai
    Department of Dermatology, College of Physicians and Surgeons, Columbia University, New York, NY 10032
    J Immunol 197:1089-99. 2016
    ..CXCR3 blockade could be approached clinically in human AA with either biologic or small-molecule inhibition, the latter being particularly intriguing as a topical therapeutic. ..
  51. pmc Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome
    Mazen Kurban
    Department of Dermatology, Columbia University, New York, NY 10032, USA
    Dermatology 223:316-20. 2011
    ..The genetic basis of hypertrichosis is largely unknown, and currently no single gene has been directly implicated in its pathogenesis, although position effects have been reported...
  52. pmc Genetic basis of alopecia areata: a roadmap for translational research
    Ali Jabbari
    Department of Dermatology, Russ Berrie Medical Science Pavilion, Columbia University, 1150 Saint Nicholas Avenue, New York, NY 10032, USA
    Dermatol Clin 31:109-17. 2013
    ..The authors focus on the central role of genetics for gaining insight into disease pathogenesis and setting the stage for the rational development of novel effective therapeutic approaches...
  53. ncbi request reprint Epithelial stem cells: stepping out of their niche
    Angela M Christiano
    Departments of Dermatology and Genetics and Development, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
    Cell 118:530-2. 2004
    ..The findings suggest that early lineage commitments of epithelial cells in the hair follicle may be reversible...
  54. ncbi request reprint The Wnt inhibitor, Dickkopf 4, is induced by canonical Wnt signaling during ectodermal appendage morphogenesis
    Hisham Bazzi
    Department of Genetics and Development, Columbia University, New York, NY, USA
    Dev Biol 305:498-507. 2007
    ..We propose that Dkk4 acts in a negative feedback loop to attenuate canonical Wnt signaling, and may facilitate a switch to the non-canonical Wnt planar cell polarity (PCP) pathway that is involved in cell movements during morphogenesis...
  55. pmc Mutations in the hairless gene underlie APL in three families of Pakistani origin
    Liv Kraemer
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, 630 West 168th Street VC15 204A, New York, NY 10032, USA
    J Dermatol Sci 50:25-30. 2008
    ..It begins shortly after birth with the development of hair loss, and patients are normally devoid of eyelashes and eyebrows. Mutations in the hairless (HR) gene have been previously shown to be responsible for APL...
  56. pmc Melanin Transfer in Human 3D Skin Equivalents Generated Exclusively from Induced Pluripotent Stem Cells
    Karl Gledhill
    Department of Dermatology, Columbia University, New York, NY, United States of America
    PLoS ONE 10:e0136713. 2015
    ....
  57. pmc PI3K/AKT pathway regulates E-cadherin and Desmoglein 2 in aggressive prostate cancer
    Alison G Barber
    Department of Genetics and Development, Columbia University, New York City, New York
    Cancer Med 4:1258-71. 2015
    ..In conclusion, these findings illustrate the critical role of cell-cell adhesion in the progression to aggressive prostate cancer, through regulation by the PI3K pathway...
  58. doi request reprint Induced pluripotent stem cells from human revertant keratinocytes for the treatment of epidermolysis bullosa
    Noriko Umegaki-Arao
    Department of Dermatology, Columbia University, New York, NY 10032, USA
    Sci Transl Med 6:264ra164. 2014
    ..Therefore, revertant keratinocytes may be a viable source of spontaneously gene-corrected cells for developing iPSC-based therapeutic approaches in EB. ..
  59. doi request reprint Regenerative medicine and hair loss: how hair follicle culture has advanced our understanding of treatment options for androgenetic alopecia
    Claire A Higgins
    Department of Dermatology, Columbia University, New York, NY, USA
    Regen Med 9:101-11. 2014
    ....
  60. ncbi request reprint The role of BMP signalling in the control of ID3 expression in the hair follicle
    Ryan F L O'Shaughnessy
    Dermatology Department, Columbia University, New York, NY, USA
    Exp Dermatol 13:621-9. 2004
    ..These studies reinforce the requirement for active BMP signalling and cell-cell contacts in the dermal papilla during specific stages in the hair cycle...
  61. ncbi request reprint Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions
    Julie V Schaffer
    Department of Dermatology, New York University School of Medicine, New York, NY, USA
    J Invest Dermatol 126:1286-91. 2006
    ..These observations broaden the phenotypic and genotypic spectrum of LAH, further illustrating the consequences of DSG4 dysfunction on epidermal and hair shaft integrity...
  62. ncbi request reprint A glycine substitution in the COL7A1 gene causes mild RDEB in a Pakistani family
    Liv Kraemer
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, 630 West 168th Street, VC 1526, New York, New York 10032, USA
    Eur J Dermatol 16:615-9. 2006
    ....
  63. pmc A nonsense mutation in the SCN9A gene in congenital insensitivity to pain
    Mazen Kurban
    Department of Dermatology, Columbia University, New York, NY, USA
    Dermatology 221:179-83. 2010
    ..Clinically, CIP is characterized by insensitivity to all modalities of pain except neuropathic pain, and recurrent injuries frequently go unnoticed. CIP is caused by mutations in the SCN9A gene encoding for the Na1.7 channel...
  64. ncbi request reprint Search for susceptibility genes in alopecia areata
    Amalia Martinez-Mir
    Department of Dermatology, Columbia University, New York, New York, USA
    J Investig Dermatol Symp Proc 10:281-2. 2005
  65. pmc Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition
    Luzhou Xing
    1 Department of Pathology, Columbia University, New York, New York, USA 2
    Nat Med 20:1043-9. 2014
    ..Notably, three patients treated with oral ruxolitinib, an inhibitor of JAK1 and JAK2, achieved near-complete hair regrowth within 5 months of treatment, suggesting the potential clinical utility of JAK inhibition in human AA. ..
  66. pmc Hairless and the polyamine putrescine form a negative regulatory loop in the epidermis
    Courtney T Luke
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, NY, USA
    Exp Dermatol 22:644-9. 2013
    ....
  67. pmc Loss of hairless confers susceptibility to UVB-induced tumorigenesis via disruption of NF-kappaB signaling
    Hyunmi Kim
    Department of Genetics and Development, Columbia University, College of Physicians and Surgeons, New York, New York, United States of America
    PLoS ONE 7:e39691. 2012
    ..Instead, Hr is a crucial UVB response gene and its loss creates a permissive environment that potentiates increased tumorigenesis...
  68. ncbi request reprint Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris
    Ana Kljuic
    Department of Genetics and Development, Columbia University, New York, NY 10032, USA
    Cell 113:249-60. 2003
    ..We provide evidence that desmoglein 4 is a key mediator of keratinocyte cell adhesion in the hair follicle, where it coordinates the transition from proliferation to differentiation...
  69. ncbi request reprint Interaction of hairless and thyroid hormone receptor is not involved in the pathogenesis of atrichia with papular lesions
    Karima Djabali
    Departments of Dermatology and Genetics and Development, Columbia University, New York, NY 10032, USA
    Exp Dermatol 13:251-6. 2004
    ..This result suggests that the TRID2 domain either is dispensable in the hr-TR interaction or is not involved in the pathogenesis of APL...
  70. doi request reprint Biology and genetics of hair
    Yutaka Shimomura
    Department of Dermatology, Columbia University, New York, NY 10032, USA
    Annu Rev Genomics Hum Genet 11:109-32. 2010
    ..Identification of causative genes for hair diseases has provided a better understanding of the crucial roles of these genes in HF morphogenesis, development, and hair growth in humans...
  71. ncbi request reprint Genomic organization of mouse desmocollin genes reveals evolutionary conservation
    Ana Kljuic
    Departments of Dermatology and Genetics and Development, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, VC 1526, New York, NY, USA
    DNA Seq 15:148-52. 2004
    ..Interestingly, at the genomic level, desmocollins show a higher degree of similarity to the classical cadherins, such as E-cadherin, than to the desmogleins...
  72. ncbi request reprint Hair follicle predetermination
    A A Panteleyev
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, 630 W 168th Street, Vanderbilt Clinic VC 1526, New York, NY 10032, USA
    J Cell Sci 114:3419-31. 2001
    ....
  73. ncbi request reprint Mapping complex traits in diseases of the hair and skin
    V M Aita
    Department of Genetics and Development, Columbia University, New York, NY 10032, USA
    Exp Dermatol 8:439-52. 1999
    ..Additionally, current technical and theoretical advances as well as the potential impact of the Human Genome Project will be discussed...
  74. doi request reprint Genetics of structural hair disorders
    Sivan Harel
    Department of Dermatology, Columbia University, New York, New York, USA
    J Invest Dermatol 132:E22-6. 2012
    ..Finally, understanding the biological processes governing HF development and maintenance may have implications for more general disease processes in the skin, such as inflammation and cancer...
  75. ncbi request reprint Expression patterns of the transcription factor AP-2alpha during hair follicle morphogenesis and cycling
    Andrey A Panteleyev
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
    J Invest Dermatol 121:13-9. 2003
    ..Our findings support the use of the hair follicle as a model to explore the role of AP-2alpha in physiologic remodeling of developing organs and in reciprocal ectodermal-mesenchymal interactions...
  76. doi request reprint The genetics of alopecia areata: What's new and how will it help our patients?
    Lynn Petukhova
    Department of Epidemiology, Mailman School of Public Health, Columbia University, College of Physicians and Surgeons, New York, New York 10032, USA
    Dermatol Ther 24:326-36. 2011
    ....
  77. ncbi request reprint Hair follicle stem cells
    Robert M Lavker
    Department of Dermatology, The Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA
    J Investig Dermatol Symp Proc 8:28-38. 2003
    ..Finally, a new notion was put forth concerning the roles that the bulge-located stem cells and the hair germ cells played with respect to the hair cycle...
  78. ncbi request reprint Genetic linkage studies in alopecia areata
    Amalia Martinez-Mir
    Department of Dermatology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    J Investig Dermatol Symp Proc 8:199-203. 2003
    ....
  79. ncbi request reprint Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata
    Amalia Martinez-Mir
    Department of Dermatology, Columbia University, New York, New York, USA
    J Invest Dermatol 121:741-4. 2003
    ..These results provide further evidence for the role of the FH gene in the pathogenesis of MCL...
  80. ncbi request reprint Identification of two novel human acyl-CoA wax alcohol acyltransferases: members of the diacylglycerol acyltransferase 2 (DGAT2) gene superfamily
    Aaron R Turkish
    Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA
    J Biol Chem 280:14755-64. 2005
    ..In situ hybridizations demonstrate a differentiation-specific expression pattern within the human sebaceous gland for the two AWAT genes, consistent with a significant role in the composition of sebum...
  81. pmc Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene
    Alison G Barber
    Department of Genetics and Development, Columbia University, New York, NY 10032, USA
    J Dermatol Sci 45:161-6. 2007
    ..PPKS is characterized by hyperkeratosis extending along the length of each finger and on the palm of the hand, as well as by patches of hyperkeratosis on the soles...
  82. ncbi request reprint Hairless contains a novel nuclear matrix targeting signal and associates with histone deacetylase 3 in nuclear speckles
    Karima Djabali
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
    Differentiation 72:410-8. 2004
    ..Based on our findings, we propose that hr protein is part of a specific multi-protein repressor complex and that hr may be involved in chromatin remodeling...
  83. ncbi request reprint The WNT signalling modulator, Wise, is expressed in an interaction-dependent manner during hair-follicle cycling
    Ryan F L O'Shaughnessy
    Department of Dermatology, College of Physicians and Surgeons, Columbia University, New York 10032, USA
    J Invest Dermatol 123:613-21. 2004
    ..We speculate that loss of gene expression in cultured cells is a model for the loss of gene expression observed at catagen...
  84. ncbi request reprint A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect
    Guofang Hu
    Department of Dermatology Genetics and Development, Columbia University, New York, NY 10032, USA
    J Invest Dermatol 120:967-9. 2003
    ..We identified a recurrent nonsense mutation, R96X, in four families of Turkish descent. In this report, we demonstrate that these families share a common ancestral haplotype at the mal de Meleda locus, suggesting a founder effect...
  85. ncbi request reprint Characterization of the desmosomal cadherin gene family: genomic organization of two desmoglein genes on human chromosome 18q12
    J Frank
    Department of Dermatology, Columbia University, New York, NY 10032, USA
    Exp Dermatol 10:90-4. 2001
    ..The identification of the genomic structure of the desmoglein genes will facilitate mutation detection in genodermatoses with desmosomal abnormalities resulting from underlying defects in these genes...
  86. ncbi request reprint Ornithine decarboxylase transgenic mice as a model for human atrichia with papular lesions
    A A Panteleyev
    Department of Dermatology, Columbia University, New York, NY, USA
    Exp Dermatol 9:146-51. 2000
    ..It appears that ODC plays a functionally important, yet still obscure role in a complex metabolic pathway that is critical in hair follicle function not only in mice, but in humans as well...
  87. ncbi request reprint Fishing for new genes in skin biology: impact of cytogenetics on gene discovery
    M Tadin-Strapps
    Department of Dermatology, Columbia University, NY, USA
    Clin Genet 66:94-106. 2004
    ..This review will synthesize recent findings that led to the discovery of candidate genes for anhidrotic ectodermal dysplasia, Williams-Beuren syndrome, neurofibromatosis-I and tricho-rhino-phalangeal syndrome...
  88. ncbi request reprint Stem cells in the epidermis
    A M Christiano
    Department of Dermatology, Columbia University, New York, NY 10032, USA
    Skin Pharmacol Appl Skin Physiol 14:350-7. 2001
    ..In this review, we describe the major experiments that have contributed to the understanding of the epidermal stem cells and the control of their fate...
  89. pmc Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24
    A Martinez-Mir
    Department of Dermatology, Columbia University, New York, NY 10032, USA
    J Med Genet 40:872-8. 2003
    ..A particular form of PPK, known as punctate PPK, has been described in a few large autosomal dominant pedigrees, but its genetic basis has yet to be identified...
  90. ncbi request reprint Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene
    P B Cserhalmi-Friedman
    Department of Dermatology, Columbia University, New York, New York 10032, USA
    Lab Invest 78:1483-92. 1998
    ..Restoration of open reading frame by exon skipping represents a previously undescribed mechanism of action of intraexonic deletion mutations...
  91. ncbi request reprint Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene
    Wasim Ahmad
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
    Lab Anim 36:61-7. 2002
    ....
  92. ncbi request reprint Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3)
    L Pulkkinen
    Department of Dermatology, Jefferson Medical College, Philadelphia, Pennsylvania, USA
    Hum Mutat 6:77-84. 1995
    ..The results demonstrate that this method is useful in the detection of JEB mutations, as well as polymorphisms in the LAMB3 gene...
  93. ncbi request reprint Molecular basis for the rhino (hrrh-8J) phenotype: a nonsense mutation in the mouse hairless gene
    W Ahmad
    Department of Dermatology, Columbia University, New York, New York, 10032, USA
    Genomics 53:383-6. 1998
    ..These findings document the molecular basis of the rhino phenotype for the first time and suggest that rhino is a functional knock-out of the hr gene...
  94. pmc A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers
    W Ahmad
    Department of Dermatolog, Columbia University, New York, USA
    Am J Hum Genet 63:984-91. 1998
    ..The mutated arginine residue is conserved among human, mouse, and rat, suggesting that it is of significant importance to the function of the zinc-finger domain...
  95. ncbi request reprint Structural analysis reflects the evolutionary relationship between the human desmocollin gene family members
    P B Cserhalmi-Friedman
    Department of Dermatology, Columbia University, 630 W. 168th Street VC-1526, New York, NY 10032, USA
    Exp Dermatol 10:95-9. 2001
    ..The results suggest a strong evolutionary conservation between the genomic organization of the desmocollin genes...
  96. ncbi request reprint Identification of a recurrent mutation in keratin 6a in a patient with overlapping clinical features of pachyonychia congenita types 1 and 2
    K M Ward
    The Department of Dermatology, Columbia University, and the Department of Dermatology, St Luke s Roosevelt Hospital, New York, USA
    Clin Exp Dermatol 28:434-6. 2003
    ..The correlation between the mutated gene and the type of PC has generally been consistent. In this report, we describe a case with overlapping clinical features of PC-1 and PC-2 in which a mutation in K6a was identified...
  97. ncbi request reprint Hoxa4 expression in developing mouse hair follicles and skin
    A I Packer
    Department of Genetics and Development, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA
    Mech Dev 99:153-7. 2000
    ..Hoxa4 is not expressed in hair follicles after P4. Hoxb4, however, is expressed both in developing follicles at P2 and in catagen at P19, suggesting differential expression of these two paralogous genes in the hair follicle cycle...
  98. ncbi request reprint Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait
    M Tadin-Strapps
    Department of Genetics, Dermatology and Pediatrics, Columbia University, New York, NY, USA
    Clin Genet 63:418-22. 2003
    ..1 between markers GATA198A10 and DXS8106. Localization of the gene underlying this form of hypertrichosis is the initial step in identifying genes on the X chromosome that are involved in the control of hair growth and development...
  99. ncbi request reprint Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
    K Djabali
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
    Clin Exp Dermatol 28:206-10. 2003
    ..These two mutations have been identified in other monilethrix families from Europe. Our findings extend the body of evidence implicating recurrent hHb6 and hHb1 mutations in monilethrix families from around the world...
  100. ncbi request reprint Alopecia universalis associated with a mutation in the human hairless gene
    W Ahmad
    Department of Dermatology, Columbia University, 630 West 168 Street, VC 15 526, New York, NY 10032, USA
    Science 279:720-4. 1998
    ..Human hairless encodes a putative single zinc finger transcription factor protein with restricted expression in the brain and skin...
  101. ncbi request reprint Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene
    H Lam
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
    Hum Genet 99:126-9. 1997
    ..These data establish that a frameshift mutation in PPO is the underlying mutation in this patient with VP and explain the sporadic occurrence of the phenotype in this family...

Research Grants7

  1. MOLECULAR GENETICS OF THE KERATODERMAS
    Angela Christiano; Fiscal Year: 2002
    ..The salary support requested will allow her to devote significantly more time to laboratory research, and decrease the amount of time she spends in educational responsibilities. ..
  2. Epithelial Reprogramming
    Angela Christiano; Fiscal Year: 2003
    ....
  3. GENE INHIBITION STRATEGIES FOR HAIR REMOVAL
    Angela Christiano; Fiscal Year: 2004
    ..It is our plan to apply for Phase II STTR funding for extended pre-clinical studies immediately upon successfu/completion of Phase I STTR funding, and eventually to extend these studies into human clinical trials. ..
  4. 2005 Epithelial Differentiation Keratinization-GRC
    Angela Christiano; Fiscal Year: 2005
    ..The specific goal of this proposal is to generate funds to support the travel, registration and subsistence for the speakers, chairs and major participants in the conference. ..
  5. MOLECULAR GENETICS OF THE KERATODERMAS
    Angela Christiano; Fiscal Year: 2008
    ..We anticipate that the approach of classical genetics will continue to identify new components of the epidermis in the next award period, and yield new insights into proteins with critical roles in skin biology [unreadable] [unreadable]..
  6. GENETIC ANALYSIS OF ALOPECIA AREATA
    Angela Christiano; Fiscal Year: 2009
    ..We anticipate these studies will provide a foundation for understanding the interactions of these genes with each other and with other variables such as the immune system. ..