1 - 25 of 118 results for author:"Christiano A.M." in Literature citations
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| Loss of hairless confers susceptibility to UVB-induced tumorigenesis via disruption of NF-kappaB signaling. Kim H., Casta A., Tang X., Luke C.T., Kim A.L., Bickers D.R., Athar M., Christiano A.M. PLoS ONE 7:e39691-e39691(2012) · Mapped (3) |
| Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Cabral R.M., Kurban M., Wajid M., Shimomura Y., Petukhova L., Christiano A.M. Genomics 99:202-208(2012) · UniProtKB (1) |
| Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis. Fantauzzo K.A., Christiano A.M. Development 139:203-214(2012) · Mapped (58) |
| A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance. Kurban M., Wajid M., Petukhova L., Shimomura Y., Christiano A.M. J. Hum. Genet. 56:701-706(2011) · Mapped (1) |
| Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1. Kiuru M., Kurban M., Itoh M., Petukhova L., Shimomura Y., Wajid M., Christiano A.M. Am. J. Hum. Genet. 88:839-844(2011) · UniProtKB (1) · Mapped (4) |
| A nonsense mutation in the SCN9A gene in congenital insensitivity to pain. Kurban M., Wajid M., Shimomura Y., Christiano A.M. Dermatology (Basel) 221:179-183(2010) · Mapped (4) |
| Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. Petukhova L., Duvic M., Hordinsky M., Norris D., Price V., Shimomura Y., Kim H., Singh P., Lee A., Chen W.V. et al. Nature 466:113-117(2010) · Mapped (37) |
| APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Shimomura Y., Agalliu D., Vonica A., Luria V., Wajid M., Baumer A., Belli S., Petukhova L., Schinzel A., Brivanlou A.H. et al. Nature 464:1043-1047(2010) · UniProtKB (5) |
| Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Shimomura Y., Wajid M., Petukhova L., Kurban M., Christiano A.M. Am. J. Hum. Genet. 86:632-638(2010) · UniProtKB (1) · Mapped (1) |
| A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre syndrome. Kurban M., Cheng T., Wajid M., Kiuru M., Shimomura Y., Christiano A.M. J Eur Acad Dermatol Venereol 24:967-969(2010) · Mapped (2) |
| Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy. Shimomura Y., Wajid M., Kurban M., Christiano A.M. Dermatology (Basel) 220:208-212(2010) · Mapped (2) |
| NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis. Wajid M., Kurban M., Shimomura Y., Christiano A.M. Dermatology (Basel) 220:8-14(2010) · Mapped (1) |
| Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. Shimomura Y., Ito M., Christiano A.M. J. Dermatol. Sci. 56:205-207(2009) · Mapped (3) |
| Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma. Shimomura Y., Wajid M., Weiser J., Kraemer L., Christiano A.M. Clin. Exp. Dermatol. 35:759-764(2010) · Mapped (1) |
| Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia. Shimomura Y., Wajid M., Kurban M., Sato N., Christiano A.M. J. Invest. Dermatol. 130:892-895(2010) · Mapped (2) |
| Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefevre syndrome. Kurban M., Wajid M., Shimomura Y., Bahhady R., Kibbi A.G., Christiano A.M. Dermatology (Basel) 219:289-294(2009) · Mapped (2) |
| Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families. Wajid M., Kurban M., Shimomura Y., Christiano A.M. J. Dermatol. Sci. 56:27-32(2009) · Mapped (1) |
| Polyalanine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly. Wajid M., Ishii Y., Kurban M., Dua-Awereh M.B., Shimomura Y., Christiano A.M. Clin. Genet. 76:300-302(2009) · Mapped (1) |
| Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation. Bazzi H., Demehri S., Potter C.S., Barber A.G., Awgulewitsch A., Kopan R., Christiano A.M. Differentiation 78:292-300(2009) · Mapped (1) |
| KGF and EGF signalling block hair follicle induction and promote interfollicular epidermal fate in developing mouse skin. Richardson G.D., Bazzi H., Fantauzzo K.A., Waters J.M., Crawford H., Hynd P., Christiano A.M., Jahoda C.A. Development 136:2153-2164(2009) · Mapped (73) |
| Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia. Shimomura Y., Wajid M., Weiser J., Kraemer L., Ishii Y., Lombillo V., Bale S.J., Christiano A.M. |
| Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis. Shimomura Y., Wajid M., Zlotogorski A., Lee Y.J., Rice R.H., Christiano A.M. J. Invest. Dermatol. 129:1927-1934(2009) · Mapped (3) |
| Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma. Dua-Awereh M.B., Shimomura Y., Kraemer L., Wajid M., Christiano A.M. J. Dermatol. Sci. 53:192-197(2009) · Mapped (3) |
| Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells. Tolar J., Ishida-Yamamoto A., Riddle M., McElmurry R.T., Osborn M., Xia L., Lund T., Slattery C., Uitto J., Christiano A.M. et al. Blood 113:1167-1174(2009) · Mapped (2) |
| Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. Shimomura Y., Wajid M., Petukhova L., Shapiro L., Christiano A.M. J. Invest. Dermatol. 129:622-628(2009) · UniProtKB (1) · Mapped (5) |