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Items: 1 to 20 of 49

1.

Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: A report from the National Registry for Ichthyosis and Related Skin Disorders.

Yang CS, Pomerantz H, Mannava KA, Corwin J, Weinstock MA, Fleckman P, DiGiovanna JJ, Robinson-Bostom L.

J Am Acad Dermatol. 2016 May;74(5):1008-10.e2. doi: 10.1016/j.jaad.2015.12.027. No abstract available.

2.

Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis.

Zhang SQ, Li CX, Gao XQ, Qiu WY, Chen Q, Li XM, Zhou X, Tian X, Tang ZP, Zhao T, Zhang F, Zhang XB.

Int J Dermatol. 2016 Feb;55(2):201-7. doi: 10.1111/ijd.12806. Epub 2015 Jul 28.

PMID:
26220141
3.

Novel transglutaminase 1 mutations in a Chinese patient with severe lamellar ichthyosis phenotype.

Bai J, Ding YG, Wu YH, Qiao JJ, Fang H.

Indian J Dermatol Venereol Leprol. 2015 May-Jun;81(3):292-4. doi: 10.4103/0378-6323.154786. No abstract available.

4.

Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene.

Suga Y, Tsuda T, Nagai M, Sakaguchi Y, Jitsukawa O, Yamamoto M, Hitomi K, Yamanishi K.

J Dermatol. 2015 Jun;42(6):642-5. doi: 10.1111/1346-8138.12846. Epub 2015 Mar 21.

PMID:
25808943
5.

Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis.

Pietrusiński M, Stańczyk-Przyłuska A, Chlebna-Sokól D, Borkowska E, Kalużewski B, Borowiec M.

Clin Exp Dermatol. 2015 Dec;40(8):921-3. doi: 10.1111/ced.12456. Epub 2014 Sep 23. No abstract available.

PMID:
25250916
6.

A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient.

Vaigundan D, Kalmankar NV, Krishnappa J, Gowda NY, Kutty AV, Krishnaswamy PR.

Biomed Res Int. 2014;2014:706827. doi: 10.1155/2014/706827. Epub 2014 Aug 10.

7.

Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature.

Liu JJ, Yuan YY, Zhang XQ, Li ZM, Xu YS, Gao SM, Cai JF, Shao XH, Lin XH, Li BX.

Clin Exp Dermatol. 2015 Jan;40(1):56-62. doi: 10.1111/ced.12410. Epub 2014 Aug 22. Review.

PMID:
25154629
8.

Transglutaminase-1 mutations in Omani families with lamellar ichthyosis.

Al-Naamani A, Al-Waily A, Al-Kindi M, Al-Awadi M, Al-Yahyaee SA.

Med Princ Pract. 2013;22(5):438-43. doi: 10.1159/000349914. Epub 2013 May 15.

9.

Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.

Terrinoni A, Serra V, Codispoti A, Talamonti E, Bui L, Palombo R, Sette M, Campione E, Didona B, Annicchiarico-Petruzzelli M, Zambruno G, Melino G, Candi E.

Cell Death Dis. 2012 Oct 25;3:e416. doi: 10.1038/cddis.2012.152.

10.

Long-term faithful recapitulation of transglutaminase 1-deficient lamellar ichthyosis in a skin-humanized mouse model, and insights from proteomic studies.

Aufenvenne K, Rice RH, Hausser I, Oji V, Hennies HC, Rio MD, Traupe H, Larcher F.

J Invest Dermatol. 2012 Jul;132(7):1918-21. doi: 10.1038/jid.2012.65. Epub 2012 Mar 22. No abstract available.

11.

Type I transglutaminase accumulation in the endoplasmic reticulum may be an underlying cause of autosomal recessive congenital ichthyosis.

Jiang H, Jans R, Xu W, Rorke EA, Lin CY, Chen YW, Fang S, Zhong Y, Eckert RL.

J Biol Chem. 2010 Oct 8;285(41):31634-46. doi: 10.1074/jbc.M110.128645. Epub 2010 Jul 27.

12.

Lamellar ichthyosis with a novel homozygous C-terminal mutation in the transglutaminase-1 gene.

Rodríguez-Pazos L, Ginarte M, Vega-Gliemmo A, Toribio J.

Int J Dermatol. 2009 Nov;48(11):1195-7. doi: 10.1111/j.1365-4632.2009.04223.x.

PMID:
20064174
13.

New mutations in the transglutaminase 1 gene in three families with lamellar ichthyosis.

Cao X, Lin Z, Yang H, Bu D, Tu P, Chen L, Wu H, Yang Y.

Clin Exp Dermatol. 2009 Dec;34(8):904-9. doi: 10.1111/j.1365-2230.2009.03288.x. Epub 2009 May 22.

PMID:
19486042
14.

Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell terrier dogs.

Credille KM, Minor JS, Barnhart KF, Lee E, Cox ML, Tucker KA, Diegel KL, Venta PJ, Hohl D, Huber M, Dunstan RW.

Br J Dermatol. 2009 Aug;161(2):265-72. doi: 10.1111/j.1365-2133.2009.09161.x. Epub 2009 Apr 24.

PMID:
19438474
15.

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.

Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR.

Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952. Review.

16.

Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions.

Aufenvenne K, Oji V, Walker T, Becker-Pauly C, Hennies HC, Stöcker W, Traupe H.

J Invest Dermatol. 2009 Aug;129(8):2068-71. doi: 10.1038/jid.2009.18. Epub 2009 Feb 12. No abstract available.

17.

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR.

J Med Genet. 2009 Feb;46(2):103-11. doi: 10.1136/jmg.2008.060905. Epub 2008 Oct 23.

18.

Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis.

Esposito G, Tadini G, Paparo F, Viola A, Ieno L, Pennacchia W, Messina F, Giordano L, Piccirillo A, Auricchio L.

Br J Dermatol. 2007 Oct;157(4):808-10. Epub 2007 Jul 16. No abstract available.

PMID:
17635512
19.

A three-dimensional model of the human transglutaminase 1: insights into the understanding of lamellar ichthyosis.

Boeshans KM, Mueser TC, Ahvazi B.

J Mol Model. 2007 Jan;13(1):233-46. Epub 2006 Sep 23.

PMID:
17024410
20.

The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1.

Arita K, Jacyk WK, Wessagowit V, van Rensburg EJ, Chaplin T, Mein CA, Akiyama M, Shimizu H, Happle R, McGrath JA.

J Invest Dermatol. 2007 Feb;127(2):490-3. Epub 2006 Sep 14. No abstract available.

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