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Items: 1 to 20 of 83

1.

Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.

Pasternack SM, Refke M, Paknia E, Hennies HC, Franz T, Schäfer N, Fryer A, van Steensel M, Sweeney E, Just M, Grimm C, Kruse R, Ferrándiz C, Nöthen MM, Fischer U, Betz RC.

Am J Hum Genet. 2013 Jan 10;92(1):81-7. doi: 10.1016/j.ajhg.2012.10.022. Epub 2012 Dec 13.

2.

Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families.

Tariq M, Ayub M, Jelani M, Basit S, Naz G, Wasif N, Raza SI, Naveed AK, ullah Khan S, Azeem Z, Yasinzai M, Wali A, Ali G, Chishti MS, Ahmad W.

Br J Dermatol. 2009 May;160(5):1006-10. doi: 10.1111/j.1365-2133.2009.09046.x. Epub 2009 Mar 9.

PMID:
19292720
3.

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.

4.

Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript.

Ramot Y, Horev L, Smolovich I, Molho-Pessach V, Zlotogorski A.

Exp Dermatol. 2010 Aug;19(8):e320-2. doi: 10.1111/j.1600-0625.2009.01042.x.

5.

Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation.

Mansur AT, Elcioglu NH, Redler S, Serdar ZA, Cetinel S, Betz RC, Akarsu NA.

Am J Med Genet A. 2010 Oct;152A(10):2628-33. doi: 10.1002/ajmg.a.33649.

PMID:
20814945
6.

Targeting the deregulated spliceosome core machinery in cancer cells triggers mTOR blockade and autophagy.

Quidville V, Alsafadi S, Goubar A, Commo F, Scott V, Pioche-Durieu C, Girault I, Baconnais S, Le Cam E, Lazar V, Delaloge S, Saghatchian M, Pautier P, Morice P, Dessen P, Vagner S, André F.

Cancer Res. 2013 Apr 1;73(7):2247-58. doi: 10.1158/0008-5472.CAN-12-2501. Epub 2013 Jan 28.

7.

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
8.

Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.

Pasternack SM, Murugusundram S, Eigelshoven S, Müller M, Kruse R, Lehmann P, Betz RC.

Arch Dermatol Res. 2009 Sep;301(8):621-4. doi: 10.1007/s00403-009-0971-5. Epub 2009 Jun 16.

PMID:
19529952
9.

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
10.

Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis.

Düzenli S, Redler S, Müller M, Polat M, Dogruer D, Pasternack SM, Betz RC.

Clin Exp Dermatol. 2009 Dec;34(8):e953-6. doi: 10.1111/j.1365-2230.2009.03644.x.

PMID:
20055871
11.

Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex.

Zhou C, Zang D, Jin Y, Wu H, Liu Z, Du J, Zhang J.

Hum Mutat. 2011 Jul;32(7):710-4. doi: 10.1002/humu.21503. Epub 2011 Apr 26.

PMID:
21412954
12.

In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth.

Pasternack SM, von Kügelgen I, Müller M, Oji V, Traupe H, Sprecher E, Nöthen MM, Janecke AR, Betz RC.

J Invest Dermatol. 2009 Dec;129(12):2772-6. doi: 10.1038/jid.2009.154. Epub 2009 Jun 18.

13.

Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.

Zhang X, Guo BR, Cai LQ, Jiang T, Sun LD, Cui Y, Hu JC, Zhu J, Chen G, Tang XF, Sun GQ, Tang HY, Liu Y, Li M, Li QB, Cheng H, Gao M, Li P, Yang X, Zuo XB, Zheng XD, Wang PG, Wang J, Wang J, Liu JJ, Yang S, Li YR, Zhang XJ.

J Med Genet. 2012 Dec;49(12):727-30. doi: 10.1136/jmedgenet-2012-101134. Epub 2012 Oct 25.

14.

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.

Basit S, Wali A, Aziz A, Muhammad N, Jelani M, Ahmad W.

Clin Genet. 2011 Mar;79(3):273-81. doi: 10.1111/j.1399-0004.2010.01455.x.

PMID:
20528890
15.

An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family.

Baumer A, Belli S, Trüeb RM, Schinzel A.

Eur J Hum Genet. 2000 Jun;8(6):443-8.

16.

Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair.

Horev L, Tosti A, Rosen I, Hershko K, Vincenzi C, Nanova K, Mali A, Potikha T, Zlotogorski A.

J Am Acad Dermatol. 2009 Nov;61(5):813-8. doi: 10.1016/j.jaad.2009.04.020. Epub 2009 Sep 18.

PMID:
19766349
17.

Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report.

Redler S, Kruse R, Eigelshoven S, Hanneken S, Refke M, Wen Y, Zhang X, Cichon S, Betz RC, Nöthen MM.

J Am Acad Dermatol. 2011 Apr;64(4):e45-50. doi: 10.1016/j.jaad.2010.06.013. Epub 2010 Jul 24.

PMID:
20659777
18.

Marie Unna hereditary hypotrichosis: report of a Chinese family and evidence for genetic heterogeneity.

Yan KL, He PP, Yang S, Li M, Yang Q, Ren YQ, Cui Y, Gao M, Xiao FL, Huang W, Zhang XJ.

Clin Exp Dermatol. 2004 Sep;29(5):460-3.

PMID:
15347323
19.

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.

20.

A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3.

Betz RC, Lee YA, Bygum A, Brandrup F, Bernal AI, Toribio J, Alvarez JI, Kukuk GM, Ibsen HH, Rasmussen HB, Wienker TF, Reis A, Propping P, Kruse R, Cichon S, Nöthen MM.

Am J Hum Genet. 2000 Jun;66(6):1979-83. Epub 2000 May 2.

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