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Items: 1 to 20 of 147

1.

A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis.

Fujimoto A, Farooq M, Fujikawa H, Inoue A, Ohyama M, Ehama R, Nakanishi J, Hagihara M, Iwabuchi T, Aoki J, Ito M, Shimomura Y.

J Invest Dermatol. 2012 Oct;132(10):2342-9. doi: 10.1038/jid.2012.154. Epub 2012 May 17.

2.

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 AM.

Am J Hum Genet. 2010 Apr 9;86(4):632-8. doi: 10.1016/j.ajhg.2010.02.025. Epub 2010 Mar 25.

3.

Keratin 71 mutations: from water dogs to woolly hair.

Harel S, Christiano AM.

J Invest Dermatol. 2012 Oct;132(10):2315-7. doi: 10.1038/jid.2012.291.

4.

Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.

Wasif N, Naqvi SK, Basit S, Ali N, Ansar M, Ahmad W.

Hum Genet. 2011 Apr;129(4):419-24. doi: 10.1007/s00439-010-0938-9. Epub 2010 Dec 28.

PMID:
21188418
5.

Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis: Establishment of a useful assay system for LPA6.

Hayashi R, Inoue A, Suga Y, Aoki J, Shimomura Y.

J Dermatol Sci. 2015 Jun;78(3):197-205. doi: 10.1016/j.jdermsci.2015.03.006. Epub 2015 Mar 18.

PMID:
25828854
6.

Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.

Raykova D, Klar J, Azhar A, Khan TN, Malik NA, Iqbal M, Tariq M, Baig SM, Dahl N.

PLoS One. 2014 Apr 8;9(4):e93607. doi: 10.1371/journal.pone.0093607. eCollection 2014.

7.

Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis.

Kurban M, Wajid M, Shimomura Y, Christiano AM.

J Eur Acad Dermatol Venereol. 2013 May;27(5):545-9. doi: 10.1111/j.1468-3083.2012.04472.x. Epub 2012 Mar 5.

8.

Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.

Khan S, Habib R, Mir H, Umm-e-Kalsoom, Naz G, Ayub M, Shafique S, Yamin T, Ali N, Basit S, Wasif N, Kamran-Ul-Hassan Naqvi S, Ali G, Wali A, Ansar M, Ahmad W.

Clin Exp Dermatol. 2011 Aug;36(6):652-4. doi: 10.1111/j.1365-2230.2011.04014.x. Epub 2011 Mar 21.

PMID:
21426374
9.

Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair.

Yoshimasu T, Kanazawa N, Kambe N, Nakamura M, Furukawa F.

J Dermatol. 2011 Sep;38(9):900-4. doi: 10.1111/j.1346-8138.2010.01101.x. Epub 2011 Feb 1.

PMID:
21352330
10.

Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.

Shimomura Y, Wajid M, Zlotogorski A, Lee YJ, Rice RH, Christiano AM.

J Invest Dermatol. 2009 Aug;129(8):1927-34. doi: 10.1038/jid.2009.19. Epub 2009 Mar 5.

11.

Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations.

Tanahashi K, Sugiura K, Kono M, Takama H, Hamajima N, Akiyama M.

PLoS One. 2014 Feb 19;9(2):e89261. doi: 10.1371/journal.pone.0089261. eCollection 2014.

12.

Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood.

Tanahashi K, Sugiura K, Takeichi T, Takama H, Shinkuma S, Shimizu H, Akiyama M.

J Eur Acad Dermatol Venereol. 2013 Sep;27(9):1182-4. doi: 10.1111/j.1468-3083.2012.04526.x. Epub 2012 Mar 26.

PMID:
22449147
13.

Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair.

Hayashi R, Inui S, Farooq M, Ito M, Shimomura Y.

J Dermatol. 2014 Oct;41(10):890-4. doi: 10.1111/1346-8138.12623.

PMID:
25271093
14.

Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.

Shimomura Y, Wajid M, Petukhova L, Shapiro L, Christiano AM.

J Invest Dermatol. 2009 Mar;129(3):622-8. doi: 10.1038/jid.2008.290. Epub 2008 Oct 2.

15.

A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.

Ansar M, Raza SI, Lee K, Irfanullah, Shahi S, Acharya A, Dai H, Smith JD, Shendure J, Bamshad MJ, Nickerson DA, Santos-Cortez RL, Ahmad W, Leal SM.

J Med Genet. 2015 Oct;52(10):676-80. doi: 10.1136/jmedgenet-2015-103255. Epub 2015 Jul 9.

16.

Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair.

Mahmoudi H, Tug E, Parlak AH, Atasoy HI, Ludwig M, Polat M, Pasternack SM, Betz RC.

Exp Dermatol. 2012 Jun;21(6):469-71. doi: 10.1111/j.1600-0625.2012.01504.x.

PMID:
22621192
17.

Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament.

Tanaka S, Miura I, Yoshiki A, Kato Y, Yokoyama H, Shinogi A, Masuya H, Wakana S, Tamura M, Shiroishi T.

Genomics. 2007 Dec;90(6):703-11. Epub 2007 Oct 24.

18.

Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene.

Shimomura Y, Garzon MC, Kristal L, Shapiro L, Christiano AM.

Exp Dermatol. 2009 Mar;18(3):218-21. doi: 10.1111/j.1600-0625.2008.00788.x. Epub 2008 Sep 18.

19.

Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2).

Naz G, Khan B, Ali G, Azeem Z, Wali A, Ansar M, Ahmad W.

J Dermatol Sci. 2009 Apr;54(1):12-6. doi: 10.1016/j.jdermsci.2008.12.001. Epub 2009 Jan 23.

PMID:
19167195
20.

Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles.

Zernov NV, Skoblov MY, Marakhonov AV, Shimomura Y, Vasilyeva TA, Konovalov FA, Abrukova AV, Zinchenko RA.

J Invest Dermatol. 2016 Jun;136(6):1097-105. doi: 10.1016/j.jid.2016.01.037. Epub 2016 Feb 20.

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