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Items: 1 to 20 of 29

1.

A case of hereditary leukonychia totalis and partialis.

Lee YB, Kim JE, Park HJ, Cho BK.

Int J Dermatol. 2011 Feb;50(2):233-4. doi: 10.1111/j.1365-4632.2010.04306.x. No abstract available.

PMID:
21244395
2.

Proteomic analysis of human nail plate.

Rice RH, Xia Y, Alvarado RJ, Phinney BS.

J Proteome Res. 2010 Dec 3;9(12):6752-8. doi: 10.1021/pr1009349. Epub 2010 Nov 1.

3.

PLCD1 is a functional tumor suppressor inducing G(2)/M arrest and frequently methylated in breast cancer.

Xiang T, Li L, Fan Y, Jiang Y, Ying Y, Putti TC, Tao Q, Ren G.

Cancer Biol Ther. 2010 Sep 1;10(5):520-7. doi: 10.4161/cbt.10.5.12726. Epub 2010 Sep 21.

PMID:
20657189
4.

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.

Hu XT, Zhang FB, Fan YC, Shu XS, Wong AH, Zhou W, Shi QL, Tang HM, Fu L, Guan XY, Rha SY, Tao Q, He C.

Oncogene. 2009 Jul 2;28(26):2466-75. doi: 10.1038/onc.2009.92. Epub 2009 May 18.

PMID:
19448674
5.

Hereditary leukonychia totalis, acanthosis-nigricans-like lesions and hair dysplasia: a new syndrome?

Le Corre Y, Steff M, Croue A, Filmon R, Verret JL, Le Clech C.

Eur J Med Genet. 2009 Jul-Aug;52(4):229-33. doi: 10.1016/j.ejmg.2009.04.003. Epub 2009 May 4.

PMID:
19401242
6.

ATM gene mutations result in both recessive and dominant expression phenotypes of genes and microRNAs.

Smirnov DA, Cheung VG.

Am J Hum Genet. 2008 Aug;83(2):243-53. doi: 10.1016/j.ajhg.2008.07.003. Erratum in: Am J Hum Genet. 2008 Nov;83(5):657.

7.

Phospholipase C-delta1 is an essential molecule downstream of Foxn1, the gene responsible for the nude mutation, in normal hair development.

Nakamura Y, Ichinohe M, Hirata M, Matsuura H, Fujiwara T, Igarashi T, Nakahara M, Yamaguchi H, Yasugi S, Takenawa T, Fukami K.

FASEB J. 2008 Mar;22(3):841-9. Epub 2007 Oct 15.

PMID:
17938256
8.

Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.

Bergmann C, Senderek J, Anhuf D, Thiel CT, Ekici AB, Poblete-Gutierrez P, van Steensel M, Seelow D, Nürnberg G, Schild HH, Nürnberg P, Reis A, Frank J, Zerres K.

Am J Hum Genet. 2006 Dec;79(6):1105-9. Epub 2006 Oct 17.

9.

Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex.

Has C, Chang YR, Volz A, Hoeping D, Kohlhase J, Bruckner-Tuderman L.

J Invest Dermatol. 2006 Aug;126(8):1912-4. Epub 2006 Apr 13. No abstract available.

10.

FOXN1 is critical for onycholemmal terminal differentiation in nude (Foxn1) mice.

Mecklenburg L, Paus R, Halata Z, Bechtold LS, Fleckman P, Sundberg JP.

J Invest Dermatol. 2004 Dec;123(6):1001-11.

11.

Identification of a novel class of mammalian phosphoinositol-specific phospholipase C enzymes.

Stewart AJ, Mukherjee J, Roberts SJ, Lester D, Farquharson C.

Int J Mol Med. 2005 Jan;15(1):117-21.

PMID:
15583837
12.

Hereditary 'white nails': a genetic and structural study.

Norgett EE, Wolf F, Balme B, Leigh IM, Perrot H, Kelsell DP, Haftek M.

Br J Dermatol. 2004 Jul;151(1):65-72.

PMID:
15270873
13.

LEUKONYCHIA. TOTAL AND PARTIAL LEUKONYCHIA IN A SINGLE FAMILY WITH A REVIEW OF THE LITERATURE.

ALBRIGHT SD 3rd, WHEELER CE Jr.

Arch Dermatol. 1964 Oct;90:392-9. No abstract available.

PMID:
14184483
14.

Hereditary leukonychia.

JUHLIN L.

Acta Derm Venereol. 1963;43:136-41. No abstract available.

PMID:
13957988
15.

Phospholipase Cdelta1 is required for skin stem cell lineage commitment.

Nakamura Y, Fukami K, Yu H, Takenaka K, Kataoka Y, Shirakata Y, Nishikawa S, Hashimoto K, Yoshida N, Takenawa T.

EMBO J. 2003 Jun 16;22(12):2981-91.

16.

Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.

Yasukawa K, Sawamura D, McMillan JR, Nakamura H, Shimizu H.

J Biol Chem. 2002 Jun 28;277(26):23670-4. Epub 2002 Apr 24.

17.

Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

Terrinoni A, Smith FJ, Didona B, Canzona F, Paradisi M, Huber M, Hohl D, David A, Verloes A, Leigh IM, Munro CS, Melino G, McLean WH.

J Invest Dermatol. 2001 Dec;117(6):1391-6.

18.

Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome.

Morello R, Zhou G, Dreyer SD, Harvey SJ, Ninomiya Y, Thorner PS, Miner JH, Cole W, Winterpacht A, Zabel B, Oberg KC, Lee B.

Nat Genet. 2001 Feb;27(2):205-8.

PMID:
11175791
19.

Congenital leukonychia.

Stevens KR, Leis PF, Peters S, Baer S, Orengo I.

J Am Acad Dermatol. 1998 Sep;39(3):509-12. Review. No abstract available.

PMID:
9738798
20.

A syndrome of leukonychia totalis and multiple sebaceous cysts.

Slee JJ, Wallman IS, Goldblatt J.

Clin Dysmorphol. 1997 Jul;6(3):229-31.

PMID:
9220192

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