| 1 | KCNE3, 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
|
| 2 | BSI, 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
|
| 3 | ALOX12B, 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
|
| 4 | BSI, 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, Küster W, Hovnanian A, Hennies HC, Traupe H.
|
| Hum Mol Genet 15(21):3083-97. Epub 2006 Sep 12.
2006
|
| 5 | NCIE1, 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
|
| 6 | NCIE1, 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
|
| 7 | NCIE1, 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
|
| 8 | TGM1, 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
|
| 9 | NCIE1,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
|
| 10 | NCIE1, 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
|
| 11 | ARCI4A, 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
|
| 12 | NCIE1, 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
|
| 13 | RABGGTA, 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
|
| 14 | NCIE1, 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
|
| 15 | NCIE1, 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
|
| 16 | RABGGTA, 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
|
| 17 | NCIE1, 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
|
| 18 | NCIE1, 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
|
| 19 | LMLI1, 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
|
| 20 | LMLI1, 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
|
| 21 | TGM1, 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
|
| 22 | TGM1
|
| 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
|
| 23 | TGM1
|
| 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
|