| Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants. | Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.
Noda T, Takeichi T, Tanahashi K, Ogawa Y, Takeuchi S, Yoshikawa T, Toriyama E, Ashida M, Imakado S, Tsuchihashi H, Okamoto T, Okuno Y, Ogi T, Sugiura K, Kubo A, Muro Y, Suga Y, Ishida-Yamamoto A, Akiyama M. | 04/12/2024 |
| Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations. | Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations.
Hotz A, Fölster-Holst R, Oji V, Bourrat E, Frank J, Marrakchi S, Ennouri M, Wankner L, Komlosi K, Alter S, Fischer J., Free PMC Article | 04/1/2024 |
| Novel variants in ABCA12 cause erythrokeratodermia variabilis. | Novel variants in ABCA12 cause erythrokeratodermia variabilis.
Liu Y, Mo R, Chen Z, Yang Y. | 02/20/2024 |
| Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes. | Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes.
Takeichi T, Hamada T, Yamamoto M, Ito Y, Kawaguchi A, Kobashi H, Yoshikawa T, Koga H, Ishii N, Nakama T, Muro Y, Ogi T, Akiyama M. | 01/8/2024 |
| Long-term survival of harlequin ichthyosis in two siblings with novel ABCA12 mutations. | Long-term survival of harlequin ichthyosis in two siblings with novel ABCA12 mutations.
Niu X, Li X, Han Q, Hou R, Zhang K. | 11/15/2023 |
| Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP). | Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP).
Terrinoni A, Sala G, Bruno E, Pitolli C, Minieri M, Pieri M, Gambacurta A, Campione E, Belardi R, Bernardini S., Free PMC Article | 09/30/2023 |
| Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. | Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
Hotz A, Kopp J, Bourrat E, Oji V, Süßmuth K, Komlosi K, Bouadjar B, Tantcheva-Poór I, Hellström Pigg M, Betz RC, Giehl K, Schedel F, Weibel L, Schulz S, Stölzl DV, Tadini G, Demiral E, Berggard K, Zimmer AD, Alter S, Fischer J., Free PMC Article | 03/30/2023 |
| Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis. | Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.
Serra G, Memo L, Cavicchioli P, Cutrone M, Giuffrè M, La Torre ML, Schierz IAM, Corsello G., Free PMC Article | 08/27/2022 |
| Positive selection in Europeans and East-Asians at the ABCA12 gene. | Positive selection in Europeans and East-Asians at the ABCA12 gene.
Sirica R, Buonaiuto M, Petrella V, Sticco L, Tramontano D, Antonini D, Missero C, Guardiola O, Andolfi G, Kumar H, Ayub Q, Xue Y, Tyler-Smith C, Salvemini M, D'Angelo G, Colonna V., Free PMC Article | 09/26/2020 |
| A novel pathogenic variant Val1927Leu was identified in a patient with severe harlequin ichthyosis. | A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.
Montalván-Suárez M, Esperón-Moldes US, Rodríguez-Pazos L, Ordóñez-Ugalde A, Moscoso F, Ugalde-Noritz N, Santomé L, Fachal L, Tettamanti-Miranda D, Ruiz JC, Ginarte M, Vega A., Free PMC Article | 06/29/2019 |
| Letter: describe ABCA12 mutations in patients with autosomal recessive congenital ichthyosis and report evidence of a founder effect of this mutation in the Spanish population. | ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications.
Esperón-Moldes U, Ginarte M, Rodríguez-Pazos L, Fachal L, Pozo T, Aguilar JL, Del Boz González J, Santiago AM, Vega A. | 06/23/2019 |
| A novel heterozygous missense mutation was identified in ATP-binding cassette sub-family A member 12 (ABCA12) within a family afflicted with keratosis pilaris. In addition, upregulated ABCA12 expression levels in the sebaceous glands of patients with nevus comedonicus were investigated. | Mutation and expression of ABCA12 in keratosis pilaris and nevus comedonicus.
Liu F, Yang Y, Zheng Y, Liang YH, Zeng K., Free PMC Article | 11/10/2018 |
| the present study has identified a novel homozygous deleterious intronic variant, which is associated with a severe phenotype of HI. | Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis.
Sheth JJ, Bhavsar R, Patel D, Joshi A, Sheth FJ. | 09/22/2018 |
| two missense ABCA12 mutations were uncovered in both of the affected brothers. | Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.
Bastaki F, Mohamed M, Nair P, Saif F, Mustafa EM, Bizzari S, Al-Ali MT, Hamzeh AR. | 11/25/2017 |
| we identified three novel mutations and one reported mutation in the TGM1 and ABCA12 genes, respectively, in affected siblings of five Saudi unrelated families | Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families.
Wakil SM, Binamer Y, Al-Dossari H, Al-Humaidy R, Thuraya RA, Khalifa O, Finsterer J, Meyer BF, Al Owain M. | 07/1/2017 |
| Genes ABCC7, A3, A8, A12, and C8 prevailed among the most upregulated or downregulated ones. In conclusion, the results supported our theory about general adenosine triphosphate-binding cassette gene expression profiles and their importance for cancer on clinical as well as research levels. | ABC gene expression profiles have clinical importance and possibly form a new hallmark of cancer.
Dvorak P, Pesta M, Soucek P. | 06/24/2017 |
| Autosomal recessive inheritance of mutations in the ATP-binding cassette, subfamily A, member 12 (ABCA12, OMIM*607800, chromosome 2q35) gene was found to be responsible for the disease. | A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis.
Gürkan H, Fischer J, Ulusal S, Vatansever Ü, Hartmann B, Tozkır H, Schlipf N, Acunaş BA. | 04/23/2016 |
| Identification of the key promoter element of ABCA12 in this study may provide relevant information for genetic diagnosis of recessive congenital ichthyosis. | A palindromic motif in the -2084 to -2078 upstream region is essential for ABCA12 promoter function in cultured human keratinocytes.
Shimizu Y, Ogawa Y, Sugiura K, Takeda J, Sakai-Sawada K, Yanagi T, Kon A, Sawamura D, Shimizu H, Akiyama M., Free PMC Article | 10/31/2015 |
| Ssnger sequencing of the parents of neonates deceased patients with Harlequin ichthyosis identified novel mutations in ABCA12 gene. | Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosis.
Aggarwal S, Kar A, Bland P, Kelsell D, Dalal A. | 03/7/2015 |
| ABCA12 mutations result in defective lipid transport via lamellar granules in the keratinocytes, leading to ichthyosis phenotypes from malformation of the stratum corneum lipid barrier. | The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation.
Akiyama M. | 04/19/2014 |
| Report a consanguineous family of Arab Muslim origin with several members displaying a severe form of congenital ichthyosiform erythroderma. Identified a region of homozygosity shared by all patients on 2q34, in a region harbouring the ABCA12 gene. | The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12.
Goldsmith T, Fuchs-Telem D, Israeli S, Sarig O, Padalon-Brauch G, Bergman R, Indelman M, Sprecher E, Nousbeck J. | 09/21/2013 |
| We show that homozygosity for a novel c.4676G>T transition in the ABCA12 gene, resulting in a p.G1559V substitution, causes non-bullous congenital ichthyosiform erythroderms in 5 members of an extended family. | Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.
Nawaz S, Tariq M, Ahmad I, Malik NA, Baig SM, Dahl N, Klar J. | 06/16/2012 |
| The authors report on a 2282del4 mutation that may be associated with ichthyosis vulgaris in a Pakistani population. | Detection of filaggrin gene mutation (2282del4) in Pakistani Ichthyosis vulgaris families.
Naz N, Samdani AJ. | 01/7/2012 |
| The researchers report on another fatal case of Harlequin ichthyosis that may be associated with mutations of the ABCA12 gene | Harlequin ichthyosis in two siblings.
Habib A, Pasha W, Raza N, Hameed A. | 01/7/2012 |
| AKT signaling helps ABCA12 deficient keratinocytes survive during the keratinization process. | AKT has an anti-apoptotic role in ABCA12-deficient keratinocytes.
Yanagi T, Akiyama M, Nishihara H, Miyamura Y, Sakai K, Tanaka S, Shimizu H. | 10/15/2011 |