| Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis. | Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.
Mohamad J, Nanda A, Pavlovsky M, Peled A, Malchin N, Malovitski K, Pramanik R, Weissglas-Volkov D, Shomron N, McGrath J, Sprecher E, Sarig O. | 10/2/2021 |
| Acral PSS (APSS) (OMIM 609796), typically non-inflammatory, is confined to distal extremities with localized exfoliation of the epidermis. It is caused by mutations in the TGM5 gene, encoding transglutaminase 5[3] or in the CTSA gene, encoding cystatin A and it is inherited in autosomal recessive pattern | Acral peeling skin syndrome resulting from mutations in TGM5.
Cañueto J, Bueno E, Rodríguez-Diaz E, Vicente-Díaz MA, Álvarez-Cuesta CC, Gonzalvo-Rodríguez P, González-Sarmiento R. | 12/24/2016 |
| We report both European and non-European families with acral peeling skin syndrome carrying mutations in the TGM5 gene. In 5 patients, we found 3 novel mutations: c.1001+2_1001+3del, c.1171G>A and c.1498C>T. | Novel TGM5 mutations in acral peeling skin syndrome.
van der Velden JJ, van Geel M, Nellen RG, Jonkman MF, McGrath JA, Nanda A, Sprecher E, van Steensel MA, McLean WH, Cassidy AJ. | 04/23/2016 |
| Data trebles the number of TMG5 mutations and provides further evidence that pCly113Cys is a founder mutation in the European population. | Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.
Szczecinska W, Nesteruk D, Wertheim-Tysarowska K, Greenblatt DT, Baty D, Browne F, Liu L, Ozoemena L, Terron-Kwiatkowski A, McGrath JA, Mellerio JE, Morton J, Woźniak K, Kowalewski C, Has C, Moss C. | 07/25/2015 |
| study concludes polymorphisms of TGM5, PPAP2B and PSMA4 are not major contributors tonon-small cell lung cancer susceptibility in never-smoking hinese population, this primarily can be attributed to the significantly distinct genetic background of Asian populations from western populations | Association between TGM5, PPAP2B and PSMA4 polymorphisms and NSCLC in never-smoking Chinese population.
Yongjun Zhang MM, Zhang A, Hua Shi MM, Xiangming Kong MM. | 01/31/2015 |
| Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis. | Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.
Liedén A, Winge MC, Sääf A, Kockum I, Ekelund E, Rodriguez E, Fölster-Holst R, Franke A, Illig T, Tengvall-Linder M, Baurecht H, Weidinger S, Wahlgren CF, Nordenskjöld M, Bradley M., Free PMC Article | 05/18/2013 |
| TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome. | TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.
Pigors M, Kiritsi D, Cobzaru C, Schwieger-Briel A, Suárez J, Faletra F, Aho H, Mäkelä L, Kern JS, Bruckner-Tuderman L, Has C. | 01/26/2013 |
| analysis of a recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome | A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome.
van der Velden JJ, Jonkman MF, McLean WH, Hamm H, Steijlen PM, van Steensel MA, van Geel M. | 05/12/2012 |
| Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. | Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.
Kiritsi D, Cosgarea I, Franzke CW, Schumann H, Oji V, Kohlhase J, Bruckner-Tuderman L, Has C. | 06/28/2010 |
| TG5 full-length enzyme has very low enzymatic activity, while the 53-kDa proteolytically processed form is highly active. | Inactive and highly active, proteolytically processed transglutaminase-5 in epithelial cells.
Pietroni V, Di Giorgi S, Paradisi A, Ahvazi B, Candi E, Melino G. | 01/21/2010 |
| A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family. | A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.
Kharfi M, El Fekih N, Ammar D, Jaafoura H, Schwonbeck S, van Steensel MA, Fazaa B, Kamoun MR, Fischer J. | 01/21/2010 |
| Transglutaminase 5 is expressed during hair follicle homeostasis. | Transglutaminase 5 expression in human hair follicle.
Thibaut S, Candi E, Pietroni V, Melino G, Schmidt R, Bernard BA. | 01/21/2010 |
| Data show that transglutaminase (TGase) 5 is acetylated at the N-terminal end, is active upon treatment with phorbol acetate, and co-localises with vimentin intermediate filaments. | Transglutaminase 5 is acetylated at the N-terminal end.
Rufini A, Vilbois F, Paradisi A, Oddi S, Tartaglione R, Leta A, Bagetta G, Guerrieri P, Finazzi-Agro' A, Melino G, Candi E. | 01/21/2010 |
| Results demonstrate that transglutaminase 5 is able to induce cell death when intracellularly overexpressed. | Overexpressed transglutaminase 5 triggers cell death.
Cadot B, Rufini A, Pietroni V, Ramadan S, Guerrieri P, Melino G, Candi E. | 01/21/2010 |
| A homozygous missense mutation in TGM5 abolishes epidermal TGM5 activity and causes acral peeling skin syndrome. | A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.
Cassidy AJ, van Steensel MA, Steijlen PM, van Geel M, van der Velden J, Morley SM, Terrinoni A, Melino G, Candi E, McLean WH., Free PMC Article | 01/21/2010 |
| transglutaminase 5 contributes, as a secondary effect, to the hyperkeratotic phenotype in ichthyosis (both vulgaris and lamellar) and in psoriasis. | 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. | 01/21/2010 |