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1991 1
1995 6
1996 2
1997 5
1998 10
1999 3
2000 5
2001 2
2002 2
2003 3
2004 3
2006 4
2007 4
2008 1
2009 6
2010 1
2011 1
2012 4
2013 2
2014 3
2015 5
2016 3
2018 1
2019 3
2022 0
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Transglutaminase diseases: from biochemistry to the bedside.
Lorand L, Iismaa SE. Lorand L, et al. FASEB J. 2019 Jan;33(1):3-12. doi: 10.1096/fj.201801544R. FASEB J. 2019. PMID: 30593123
Loss of TG function is associated with numerous orphan diseases that affect a relatively small number of individuals: loss of FXIIIa (transamidase-activated form) crosslinking leads to defects in blood coagulation in FXIII deficiency; loss of TG1 and TG5 cross linking leads to de …
Loss of TG function is associated with numerous orphan diseases that affect a relatively small number of individuals: loss of FXIIIa (transa …
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. Herman ML, et al. Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952. Hum Mutat. 2009. PMID: 19241467 Free PMC article. Review.
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification diseases. ...
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification diseases. ...
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. Farasat S, et al. J Med Genet. 2009 Feb;46(2):103-11. doi: 10.1136/jmg.2008.060905. Epub 2008 Oct 23. J Med Genet. 2009. PMID: 18948357 Free PMC article.
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a rare hereditary disorder of cornification. Mutations in the transglutaminase-1 (TGM1) gene, which encodes for the epidermal enzyme transglutaminase-1 (TGase-1), are one of the causes of ARCI. METHODS: The TG …
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a rare hereditary disorder of cornification. Mutations in the transgl …
Transglutaminase-1 mutations in Omani families with lamellar ichthyosis.
Al-Naamani A, Al-Waily A, Al-Kindi M, Al-Awadi M, Al-Yahyaee SA. Al-Naamani A, et al. Med Princ Pract. 2013;22(5):438-43. doi: 10.1159/000349914. Epub 2013 May 15. Med Princ Pract. 2013. PMID: 23689228 Free PMC article.
OBJECTIVE: To determine the molecular basis of familial ichthyosis in three Omani families. SUBJECTS AND METHODS: Nine patients from three consanguineous families, A, B, and C, were born with typical features of lamellar ichthyosis subtype including collodion membra …
OBJECTIVE: To determine the molecular basis of familial ichthyosis in three Omani families. SUBJECTS AND METHODS: Nine patients from …
Topical enzyme-replacement therapy restores transglutaminase 1 activity and corrects architecture of transglutaminase-1-deficient skin grafts.
Aufenvenne K, Larcher F, Hausser I, Duarte B, Oji V, Nikolenko H, Del Rio M, Dathe M, Traupe H. Aufenvenne K, et al. Am J Hum Genet. 2013 Oct 3;93(4):620-30. doi: 10.1016/j.ajhg.2013.08.003. Epub 2013 Sep 19. Am J Hum Genet. 2013. PMID: 24055110 Free PMC article.
Transglutaminase-1 (TG1)-deficient autosomal-recessive congenital ichthyosis (ARCI) is a rare and severe genetic skin disease caused by mutations in TGM1. ...Treatment with rhTG1 liposomes resulted in considerable improvement of the ichthyosis phenotype and in norma …
Transglutaminase-1 (TG1)-deficient autosomal-recessive congenital ichthyosis (ARCI) is a rare and severe genetic skin disease caused …
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. Liu JJ, et al. Clin Exp Dermatol. 2015 Jan;40(1):56-62. doi: 10.1111/ced.12410. Epub 2014 Aug 22. Clin Exp Dermatol. 2015. PMID: 25154629 Review.
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of diseases of keratinization, characterized primarily by abnormal skin scaling over the whole body surface. Recently, ARCI has been designated to include the major forms of lamellar i
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of diseases of keratinization, characterized pr …
Transglutaminase inhibitors induce hyperproliferation and parakeratosis in tissue-engineered skin.
Harrison CA, Layton CM, Hau Z, Bullock AJ, Johnson TS, MacNeil S. Harrison CA, et al. Br J Dermatol. 2007 Feb;156(2):247-57. doi: 10.1111/j.1365-2133.2006.07641.x. Br J Dermatol. 2007. PMID: 17223863
Abnormal TG expression has been demonstrated in Darier disease, Netherton syndrome, psoriasis and lamellar ichthyosis. During a recent investigation of skin contraction in tissue-engineered skin, transglutaminase inhibitors were found to produce hyperproliferation and para …
Abnormal TG expression has been demonstrated in Darier disease, Netherton syndrome, psoriasis and lamellar ichthyosis. During a recen …
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. Yang CS, et al. J Am Acad Dermatol. 2016 May;74(5):1008-10.e2. doi: 10.1016/j.jaad.2015.12.027. J Am Acad Dermatol. 2016. PMID: 27085231 Free PMC article. No abstract available.
LEKTI domains D6, D7 and D8+9 serve as substrates for transglutaminase 1: implications for targeted therapy of Netherton syndrome.
Wiegmann H, Valentin F, Tarinski T, Liebau E, Loser K, Traupe H, Oji V. Wiegmann H, et al. Br J Dermatol. 2019 Nov;181(5):999-1008. doi: 10.1111/bjd.17820. Epub 2019 Jun 6. Br J Dermatol. 2019. PMID: 30801672
Lack of LEKTI causes Netherton syndrome; TG1 deficiency causes lamellar ichthyosis. The serine protease inhibitor LEKTI is processed into different functional units. ...
Lack of LEKTI causes Netherton syndrome; TG1 deficiency causes lamellar ichthyosis. The serine protease inhibitor LEKTI is processed …
Expression of transglutaminase 5 in normal and pathologic human epidermis.
Candi E, Oddi S, Paradisi A, Terrinoni A, Ranalli M, Teofoli P, Citro G, Scarpato S, Puddu P, Melino G. Candi E, et al. J Invest Dermatol. 2002 Sep;119(3):670-7. doi: 10.1046/j.1523-1747.2002.01853.x. J Invest Dermatol. 2002. PMID: 12230511 Free article.
We evaluated transglutaminase 5 expression in comparison with proliferating (keratin 14) and differentiating (transglutaminase 3) markers in different diseases, such as psoriasis, ichthyosis vulgaris, lamellar ichthyosis, and Darier's disease. We observed that trans …
We evaluated transglutaminase 5 expression in comparison with proliferating (keratin 14) and differentiating (transglutaminase 3) markers in …
72 results