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Volumn 88, Issue 6, 2011, Pages 839-844

Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITIDE; PHOSPHOLIPASE C DELTA1;

EID: 79958791366     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.05.014     Document Type: Article
Times cited : (39)

References (31)
  • 1
    • 50249177713 scopus 로고    scopus 로고
    • Biology of hair and nails
    • R. Paus, S. Peker, and J.P. Sundberg Biology of hair and nails J.L. Bolognia, J.L. Jorizzo, R.P. Rapini, Dermatology Second Edition 2007 Elsevier St. Louis, MO 965 986
    • (2007) Dermatology , pp. 965-986
    • Paus, R.1    Peker, S.2    Sundberg, J.P.3
  • 2
    • 0025036442 scopus 로고
    • Leukonychia. Review and classification
    • M. Grossman, and R.K. Scher Leukonychia. Review and classification Int. J. Dermatol. 29 1990 535 541
    • (1990) Int. J. Dermatol. , vol.29 , pp. 535-541
    • Grossman, M.1    Scher, R.K.2
  • 3
    • 0000834703 scopus 로고
    • Leukonychia. Total and partial leukonychia in a single family with a review of the literature
    • S.D. Albright 3rd, and C.E. Wheeler Jr. Leukonychia. Total and partial leukonychia in a single family with a review of the literature Arch. Dermatol. 90 1964 392 399
    • (1964) Arch. Dermatol. , vol.90 , pp. 392-399
    • Albright, S.D.1    Wheeler Jr., C.E.2
  • 4
    • 0014217629 scopus 로고
    • Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome
    • R.S. Bart, and R.E. Pumphrey Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome N. Engl. J. Med. 276 1967 202 207
    • (1967) N. Engl. J. Med. , vol.276 , pp. 202-207
    • Bart, R.S.1    Pumphrey, R.E.2
  • 5
    • 0028811626 scopus 로고
    • Keratoderma, hypotrichosis and leukonychia totalis: A new syndrome?
    • E. Baaran, E. Yilmaz, E. Alpsoy, and G.G. Yilmaz Keratoderma, hypotrichosis and leukonychia totalis: A new syndrome? Br. J. Dermatol. 133 1995 636 638
    • (1995) Br. J. Dermatol. , vol.133 , pp. 636-638
    • Baaran, E.1    Yilmaz, E.2    Alpsoy, E.3    Yilmaz, G.G.4
  • 6
    • 0016789331 scopus 로고
    • Leukonychia totalis, multiple sebaceous cysts, and renal calculi. A syndrome
    • L.L. Bushkell, and R.J. Gorlin Leukonychia totalis, multiple sebaceous cysts, and renal calculi. A syndrome Arch. Dermatol. 111 1975 899 901
    • (1975) Arch. Dermatol. , vol.111 , pp. 899-901
    • Bushkell, L.L.1    Gorlin, R.J.2
  • 7
    • 0017031961 scopus 로고
    • Knuckle pads, leukonychia, deafness, and keratosis palmoplantaris: Report of a family
    • E.F. Crosby, and R.H. Vidurrizaga Knuckle pads, leukonychia, deafness, and keratosis palmoplantaris: Report of a family Johns Hopkins Med. J. 139 SUPPL 1976 90 92 (Pubitemid 8024901)
    • (1976) Johns Hopkins Medical Journal , vol.139 , Issue.SUPPL. , pp. 90-92
    • Crosby, E.F.1    Vidurrizaga, R.H.2
  • 8
    • 0027248359 scopus 로고
    • Leukonychia totalis associated with keratosis pilaris and hyperhidrosis
    • I. Galadari, and S. Mohsen Leukonychia totalis associated with keratosis pilaris and hyperhidrosis Int. J. Dermatol. 32 1993 524 525 (Pubitemid 23226006)
    • (1993) International Journal of Dermatology , vol.32 , Issue.7 , pp. 524-525
    • Galadari, I.1    Mohsen, S.2
  • 9
    • 0021846546 scopus 로고
    • Association of pili torti and leukonychia
    • T.A. Giustina, T.Y. Woo, J.P. Campbell, and C.N. Ellis Association of pili torti and leukonychia Cutis 35 1985 533 534 (Pubitemid 15036723)
    • (1985) Cutis , vol.35 , Issue.6 , pp. 533-534
    • Giustina, T.A.1    Woo, T.Y.2    Campbell, J.P.3    Ellis, C.N.4
  • 10
    • 0001255626 scopus 로고
    • Hereditary leukonychia
    • L. Juhlin Hereditary leukonychia Acta Derm. Venereol. 43 1963 136 141
    • (1963) Acta Derm. Venereol. , vol.43 , pp. 136-141
    • Juhlin, L.1
  • 11
    • 0030844695 scopus 로고    scopus 로고
    • A syndrome of leukonychia totalis and multiple sebaceous cysts
    • DOI 10.1097/00019605-199707000-00005
    • J.J. Slee, I.S. Wallman, and J. Goldblatt A syndrome of leukonychia totalis and multiple sebaceous cysts Clin. Dysmorphol. 6 1997 229 231 (Pubitemid 27293777)
    • (1997) Clinical Dysmorphology , vol.6 , Issue.3 , pp. 229-231
    • Slee, J.J.1    Wallman, I.S.2    Goldblatt, J.3
  • 13
    • 78751604476 scopus 로고    scopus 로고
    • A case of hereditary leukonychia totalis and partialis
    • Y.B. Lee, J.E. Kim, H.J. Park, and B.K. Cho A case of hereditary leukonychia totalis and partialis Int. J. Dermatol. 50 2011 233 234
    • (2011) Int. J. Dermatol. , vol.50 , pp. 233-234
    • Lee, Y.B.1    Kim, J.E.2    Park, H.J.3    Cho, B.K.4
  • 14
    • 67650581719 scopus 로고    scopus 로고
    • Hereditary leukonychia totalis, acanthosis-nigricans-like lesions and hair dysplasia: A new syndrome?
    • Y. Le Corre, M. Steff, A. Croue, R. Filmon, J.L. Verret, and C. Le Clech Hereditary leukonychia totalis, acanthosis-nigricans-like lesions and hair dysplasia: A new syndrome? Eur. J. Med. Genet. 52 2009 229 233
    • (2009) Eur. J. Med. Genet. , vol.52 , pp. 229-233
    • Le Corre, Y.1    Steff, M.2    Croue, A.3    Filmon, R.4    Verret, J.L.5    Le Clech, C.6
  • 16
    • 0025884056 scopus 로고
    • Efficient selection for high-expression transfectants with a novel eukaryotic vector
    • H. Niwa, K. Yamamura, and J. Miyazaki Efficient selection for high-expression transfectants with a novel eukaryotic vector Gene 108 1991 193 199
    • (1991) Gene , vol.108 , pp. 193-199
    • Niwa, H.1    Yamamura, K.2    Miyazaki, J.3
  • 21
    • 0023764824 scopus 로고
    • The molecular heterogeneity of protein kinase C and its implications for cellular regulation
    • Y. Nishizuka The molecular heterogeneity of protein kinase C and its implications for cellular regulation Nature 334 1988 661 665
    • (1988) Nature , vol.334 , pp. 661-665
    • Nishizuka, Y.1
  • 22
    • 20444434117 scopus 로고    scopus 로고
    • Identification of a novel class of mammalian phosphoinositol-specific phospholipase C enzymes
    • A.J. Stewart, J. Mukherjee, S.J. Roberts, D. Lester, and C. Farquharson Identification of a novel class of mammalian phosphoinositol-specific phospholipase C enzymes Int. J. Mol. Med. 15 2005 117 121
    • (2005) Int. J. Mol. Med. , vol.15 , pp. 117-121
    • Stewart, A.J.1    Mukherjee, J.2    Roberts, S.J.3    Lester, D.4    Farquharson, C.5
  • 23
    • 67650070519 scopus 로고    scopus 로고
    • Phospholipase C delta 1 is a novel 3p22.3 tumor suppressor involved in cytoskeleton organization, with its epigenetic silencing correlated with high-stage gastric cancer
    • X.T. Hu, F.B. Zhang, Y.C. Fan, X.S. Shu, A.H. Wong, W. Zhou, Q.L. Shi, H.M. Tang, L. Fu, and X.Y. Guan Phospholipase C delta 1 is a novel 3p22.3 tumor suppressor involved in cytoskeleton organization, with its epigenetic silencing correlated with high-stage gastric cancer Oncogene 28 2009 2466 2475
    • (2009) Oncogene , vol.28 , pp. 2466-2475
    • Hu, X.T.1    Zhang, F.B.2    Fan, Y.C.3    Shu, X.S.4    Wong, A.H.5    Zhou, W.6    Shi, Q.L.7    Tang, H.M.8    Fu, L.9    Guan, X.Y.10
  • 24
    • 77957143981 scopus 로고    scopus 로고
    • PLCD1 is a functional tumor suppressor inducing G(2)/M arrest and frequently methylated in breast cancer
    • T. Xiang, L. Li, Y. Fan, Y. Jiang, Y. Ying, T.C. Putti, Q. Tao, and G. Ren PLCD1 is a functional tumor suppressor inducing G(2)/M arrest and frequently methylated in breast cancer Cancer Biol. Ther. 10 2010 520 527
    • (2010) Cancer Biol. Ther. , vol.10 , pp. 520-527
    • Xiang, T.1    Li, L.2    Fan, Y.3    Jiang, Y.4    Ying, Y.5    Putti, T.C.6    Tao, Q.7    Ren, G.8
  • 29
    • 0037189503 scopus 로고    scopus 로고
    • Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly
    • DOI 10.1074/jbc.M200974200
    • K. Yasukawa, D. Sawamura, J.R. McMillan, H. Nakamura, and H. Shimizu Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of stutter region in keratin intermediate filament assembly J. Biol. Chem. 277 2002 23670 23674 (Pubitemid 34952206)
    • (2002) Journal of Biological Chemistry , vol.277 , Issue.26 , pp. 23670-23674
    • Yasukawa, K.1    Sawamura, D.2    McMillan, J.R.3    Nakamura, H.4    Shimizu, H.5
  • 30
  • 31
    • 48449101041 scopus 로고    scopus 로고
    • ATM gene mutations result in both recessive and dominant expression phenotypes of genes and micrRNAs
    • D. Smirnov, and V. Cheung ATM gene mutations result in both recessive and dominant expression phenotypes of genes and micrRNAs Am. J. Hum. Genet. 83 2008 243 253
    • (2008) Am. J. Hum. Genet. , vol.83 , pp. 243-253
    • Smirnov, D.1    Cheung, V.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.