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Results: 16

1.

A homozygous mutation, c.736T>A (p.C246S), in LIPH gene in a patient manifesting woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia.

Hamada K, Kubo R, Nishio D, Nakamura M.

Eur J Dermatol. 2014 Mar-Apr;24(2):272-3. doi: 10.1684/ejd.2014.2306. No abstract available.

PMID:
24722066
2.

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.

3.

Lipase member H is a novel secreted protein selectively upregulated in human lung adenocarcinomas and bronchioloalveolar carcinomas.

Seki Y, Yoshida Y, Ishimine H, Shinozaki-Ushiku A, Ito Y, Sumitomo K, Nakajima J, Fukayama M, Michiue T, Asashima M, Kurisaki A.

Biochem Biophys Res Commun. 2014 Jan 24;443(4):1141-7. doi: 10.1016/j.bbrc.2013.12.106. Epub 2013 Dec 28.

PMID:
24380866
4.

Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.

Liu LH, Wang JW, Chen G, Chang RX, Zhou Y, Tang HY, Zhu J, Wang PG, Yang S, Zhang XJ.

J Dermatol. 2014 Jan;41(1):105-7. doi: 10.1111/1346-8138.12309. Epub 2013 Dec 20. No abstract available.

PMID:
24354445
5.

A novel mutation, c.699C>G (p.C233W), in the LIPH gene leads to a loss of the hydrolytic activity and the LPA6 activation ability of PA-PLA1α in autosomal recessive wooly hair/hypotrichosis.

Yoshizawa M, Nakamura M, Farooq M, Inoue A, Aoki J, Shimomura Y.

J Dermatol Sci. 2013 Oct;72(1):61-4. doi: 10.1016/j.jdermsci.2013.05.001. Epub 2013 May 22. No abstract available.

PMID:
23768866
6.

Two cases of autosomal recessive woolly hair with LIPH gene mutations.

Harada K, Inozume T, Kawamura T, Shibagaki N, Kinoshita T, Deguchi N, Shimada S.

Int J Dermatol. 2013 May;52(5):572-4. doi: 10.1111/j.1365-4632.2012.05775.x.

PMID:
23590372
7.

A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.

Tariq M, Azhar A, Baig SM, Dahl N, Klar J.

Sci Rep. 2012;2:730. doi: 10.1038/srep00730. Epub 2012 Oct 12.

8.

The Pseudomonas aeruginosa PhoP-PhoQ two-component regulatory system is induced upon interaction with epithelial cells and controls cytotoxicity and inflammation.

Gellatly SL, Needham B, Madera L, Trent MS, Hancock RE.

Infect Immun. 2012 Sep;80(9):3122-31. doi: 10.1128/IAI.00382-12. Epub 2012 Jun 18.

9.

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
10.

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.

11.

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
12.

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.

13.

Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype.

Shah SH, Abid A, Shahid S, Khaliq S.

J Pak Med Assoc. 2011 Nov;61(11):1060-4.

PMID:
22125978
14.

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
15.

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
16.

A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp.

Nahum S, Morice-Picard F, Taieb A, Sprecher E.

Clin Exp Dermatol. 2011 Mar;36(2):188-94. doi: 10.1111/j.1365-2230.2010.03944.x. Epub 2010 Nov 10.

PMID:
21070332
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