Citations for
1KCNE3, LQT10, NCIE1, TGM1
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 30(4):537-47. Review. 2009
2BSI, TGM1
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 46(2):103-11. Epub 2008 Oct 23. 2009
3ALOX12B, NCIE3B, TGM1
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene.
Harting M, Brunetti-Pierri N, Chan CS, Kirby J, Dishop MK, Richard G, Scaglia F, Yan AC, Levy ML.
Arch Dermatol 144(3):351-6.PMID: 18347291 2008
4BSI, TGM1
Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.
Oji V, Hautier JM, Ahvazi B, Hausser I, Aufenvenne K, Walker T, Seller N, Steijlen PM, K├╝ster W, Hovnanian A, Hennies HC, Traupe H.
Hum Mol Genet 15(21):3083-97. Epub 2006 Sep 12. 2006
5NCIE1, TGM1
Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation.
Raghunath M, Hennies HC, Ahvazi B, Vogel M, Reis A, Steinert PM, Traupe H.
J Invest Dermatol 120(2):224-8. 2003
6NCIE1, TGM1
Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene.
Cserhalmi-Friedman PB, Milstone LM, Christiano AM.
Br J Dermatol 144(4):726-30. 2001
7NCIE1, TGM1
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.
Shevchenko YO, Compton JG, Toro JR, DiGiovanna JJ, Bale SJ.
Hum Genet 106(5):492-9. 2000
8TGM1, IVL, NCIE1
A novel function for transglutaminase 1: attachment of long-chain omega-hydroxyceramides to involucrin by ester bond formation.
Nemes Z, Marekov LN, Fesus L, Steinert PM.
Proc Natl Acad Sci U S A 96(15):8402-7. 1999
9NCIE1,TGM1
Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis.
Laiho E, Niemi KM, Ignatius J, Kere J, Palotie A, Saarialho-Kere U.
Eur J Hum Genet 7(6):625-32. 1999
10NCIE1, TGM1
Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis.
Hennies HC, Raghunath M, Wiebe V, Vogel M, Velten F, Traupe H, Reis A.
Hum Genet 102(3):314-8. 1998
11ARCI4A, NCIE1, TGM1
Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis.
Hennies HC, Kuster W, Wiebe V, Krebsova A, Reis A.
Am J Hum Genet 62(5):1052-61. 1998
12NCIE1, TGM1
Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway.
Pigg M, Gedde-Dahl T Jr, Cox D, Hausser I, Anton-Lamprecht I, Dahl N.
Eur J Hum Genet 6(6):589-96. 1998
13RABGGTA, TGM1
The genes encoding geranylgeranyl transferase alpha-subunit and transglutaminase 1 are very closely linked but not functionally related in terminally differentiating keratinocytes.
Song HJ, Rossi A, Ceci R, Kim IG, Anzano MA, Jang SI, De Laurenzi V, Steinert PM.
Biochem Biophys Res Commun 235(1):10-4. 1997
14NCIE1, TGM1
Three novel point mutations in the keratinocyte transglutaminase (TGK) gene in lamellar ichthyosis : significance for mutant transcript level, TGK immunodetection and activity.
Petit E, Huber M, Rochat A, Bodemer C, Teillac-Hamel D, Muh JP, Revuz J, Barrandon Y, Lathrop M, de Prost Y, Hohl D, Hovnanian A.
Eur J Hum Genet 5(4):218-28. 1997
15NCIE1, TGM1
Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.
Laiho E, Ignatius J, Mikkola H, Yee VC, Teller DC, Niemi KM, Saarialho-Kere U, Kere J, Palotie A.
Am J Hum Genet 61(3):529-38. 1997
16RABGGTA, RABGGTB, TGM1
cDNA cloning and chromosomal localization of the genes encoding the alpha- and beta-subunits of human Rab geranylgeranyl transferase: the 3' end of the alpha-subunit gene overlaps with the transglutaminase 1 gene promoter.
van Bokhoven H, Rawson RB, Merkx GF, Cremers FP, Seabra MC.
Genomics 38(2):133-40. 1996
17NCIE1, TGM1
Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.
Russell LJ, DiGiovanna JJ, Rogers GR, Steinert PM, Hashem N, Compton JG, Bale SJ.
Nat Genet 9(3):279-83. 1995
18NCIE1, TGM1
Mutations of keratinocyte transglutaminase in lamellar ichthyosis.
Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen SP, Ponec M, Bon A, Lautenschlager S, Schorderet DF, Hohl D.
Science 267(5197):525-8. 1995
19LMLI1, TGM1
Lamellar ichthyosis is genetically heterogeneous--cases with normal keratinocyte transglutaminase.
Huber M, Rettler I, Bernasconi K, Wyss M, Hohl D.
J Invest Dermatol 105(5):653-4. 1995
20LMLI1, TGM1, NCIE1
Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.
Parmentier L, Blanchet-Bardon C, Nguyen S, Prud'homme JF, Dubertret L, Weissenbach J.
Hum Mol Genet 4(8):1391-5. 1995
21TGM1, NCIE1
Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q.
Russell LJ, DiGiovanna JJ, Hashem N, Compton JG, Bale SJ.
Am J Hum Genet 55(6):1146-52. 1994
22TGM1
Structure and organization of the human transglutaminase 1 gene.
Kim IG, McBride OW, Wang M, Kim SY, Idler WW, Steinert PM.
J Biol Chem 267(11):7710-7. 1992
23TGM1
Epidermal type I transglutaminase (TGM1) is assigned to human chromosome 14.
Polakowska RR, Eddy RL, Shows TB, Goldsmith LA.
Cytogenet Cell Genet 56(2):105-7. 1991