| CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence. | CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.
Silveira KC, Fonseca IC, Oborn C, Wengryn P, Ghafoor S, Beke A, Dreseris ES, Wong C, Iacovone A, Soltys CL, Babul-Hirji R, Artigalas O, Antolini-Tavares A, Gingras AC, Campos E, Cavalcanti DP, Kannu P., Free PMC Article | 10/30/2023 |
| A variant in CYP26B1 associated with esophageal squamous cell carcinoma risk by affecting retinoic acid metabolism. | A variant in CYP26B1 associated with esophageal squamous cell carcinoma risk by affecting retinoic acid metabolism.
Niu S, Shi K, Yue X, Pan M, Song L, Gu L, Tan Y, Miao X, Tian J, Chang J. | 06/15/2023 |
| Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ? | Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?
Sarma AS, Peter Mathew R, Dalal A, Bhat V, Patil SJ. | 06/7/2023 |
| A Functional Polymorphism Downstream of Vitamin A Regulator Gene CYP26B1 Is Associated with Hand Osteoarthritis. | A Functional Polymorphism Downstream of Vitamin A Regulator Gene CYP26B1 Is Associated with Hand Osteoarthritis.
Khosasih V, Liu KM, Huang CM, Liou LB, Hsieh MS, Lee CH, Tsai CY, Kuo SY, Hwa SY, Yu CL, Chang CH, Lin CJ, Hsieh SC, Cheng CY, Chen WM, Chen LK, Chuang HP, Chen YT, Tsai PC, Lu LS, H'ng WS, Zhang Y, Chen HC, Chen CH, Lee MTM, Wu JY., Free PMC Article | 02/22/2023 |
| Polymorphisms in Vitamin A-Related Genes and Their Functions in Autoimmune Thyroid Disease. | Polymorphisms in Vitamin A-Related Genes and Their Functions in Autoimmune Thyroid Disease.
Homma H, Watanabe M, Inoue N, Isono M, Hidaka Y, Iwatani Y. | 03/19/2022 |
| CYP26B1 and its implications in lymphangiogenesis: Literature review and study of rare variants in two families. | CYP26B1 and its implications in lymphangiogenesis: Literature review and study of rare variants in two families.
Ricci M, Serrani R, Amato B, Compagna R, Veselenyiova D, Kenanoglu S, Kurti D, Baglivo M, Krajcovic J, Miggiano GAD, Aquilanti B, Matera G, Velluti V, Gagliardi L, Dundar M, Basha SH, Bertelli M. | 06/5/2021 |
| This review highlights the current knowledge of structure-function of CYP26 enzymes and focuses on their role in human retinoid metabolism in different tissues. | Biochemical and physiological importance of the CYP26 retinoic acid hydroxylases.
Isoherranen N, Zhong G., Free PMC Article | 08/1/2020 |
| Individuals with the rs138478634-GA genotype had significantly lower levels of serum all-trans retinoic acid, an anticancer nutrient, than those with the rs138478634-GG genotype (P = 0.0004), most likely due to an enhanced capacity of variant CYP26B1 to catabolize this agent. These findings emphasize the important role of rare coding variants in the development of Esophageal squamous cell carcinoma. | Exome-wide analyses identify low-frequency variant in CYP26B1 and additional coding variants associated with esophageal squamous cell carcinoma.
Chang J, Zhong R, Tian J, Li J, Zhai K, Ke J, Lou J, Chen W, Zhu B, Shen N, Zhang Y, Zhu Y, Gong Y, Yang Y, Zou D, Peng X, Zhang Z, Zhang X, Huang K, Wu T, Wu C, Miao X, Lin D. | 05/11/2019 |
| Data reported the pathogenic missense mutations of NAGLU and CYP26B1 concurrent in one patient, which not only expands the phenotype and genotype spectra of NAGLU and CYP26B1, but more importantly indicates the possibility of simultaneous occurrence of two rare diseases in one patient. | Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family.
Li J, Xie H, Jiang Y., Free PMC Article | 03/2/2019 |
| we provide the third family affected by the disorder and the first affected individual to survive beyond infancy. This woman homozygous for c.1303G>A; p.(Gly435Ser) in CYP26B1, which was associated with multisutural synostosis, radiohumeral synostosis, normal bone mineral density, and apparent intellectual disability, a phenotype with significant similarities to Antley-Bixler and Pfeiffer syndromes. | Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes.
Morton JE, Frentz S, Morgan T, Sutherland-Smith AJ, Robertson SP. | 10/21/2017 |
| Study investigated the distribution of Cyp26a1 and Cyp26b1 transcripts in the rat and human brain, identifying several novel regions of expression, including the cerebral cortex for both enzymes and striatum for Cyp26b1. | Expression of the retinoic acid catabolic enzyme CYP26B1 in the human brain to maintain signaling homeostasis.
Stoney PN, Fragoso YD, Saeed RB, Ashton A, Goodman T, Simons C, Gomaa MS, Sementilli A, Sementilli L, Ross AW, Morgan PJ, McCaffery PJ., Free PMC Article | 09/30/2017 |
| Holo-CRABPs had higher affinity for CYP26B1 than free atRA, but both apo-CRABPs(CRABP-I and CRABP-II ) inhibited the formation of 4-OH-RA by CYP26B1. | Direct protein-protein interactions and substrate channeling between cellular retinoic acid binding proteins and CYP26B1.
Nelson CH, Peng CC, Lutz JD, Yeung CK, Zelter A, Isoherranen N., Free PMC Article | 05/13/2017 |
| There was increased expression of mRNA CYP26B1 in oral cancer tissue compared to adjacent noncancerous tissues. | Association study between novel CYP26 polymorphisms and the risk of betel quid-related malignant oral disorders.
Wu SJ, Chen YJ, Shieh TY, Chen CM, Wang YY, Lee KT, Lin YM, Chien PH, Chen PH., Free PMC Article | 07/30/2016 |
| SNPs in three genes CYP26B1 rs2241057, CISD1 rs2251039, rs2590370, and TBX1 rs4819522 were involved in six potential pathways to influence serum prostate-specific antigen levels. | Pathway analysis of genome-wide association study on serum prostate-specific antigen levels.
Ge YZ, Xu Z, Xu LW, Yu P, Zhao Y, Xin H, Wu R, Tan SJ, Song Q, Wu JP, Li WC, Zhu JG, Jia RP. | 07/25/2015 |
| Our results suggested that the CYP26B1 splice variant is associated with the occurrence of BQ-related oral cancer. | Expression of a splice variant of CYP26B1 in betel quid-related oral cancer.
Chen PH, Lee KW, Hsu CC, Chen JY, Wang YH, Chen KK, Wang HM, Huang HW, Huang B., Free PMC Article | 04/11/2015 |
| homozygous carriers of the major (T) allele, relative to homozygous carriers of the minor (C) allele, of the CYP26B1 polymorphism rs2241057 may have an increased risk for the development of Crohn's disease. | Polymorphism in the retinoic acid metabolizing enzyme CYP26B1 and the development of Crohn's Disease.
Fransén K, Franzén P, Magnuson A, Elmabsout AA, Nyhlin N, Wickbom A, Curman B, Törkvist L, D'Amato M, Bohr J, Tysk C, Sirsjö A, Halfvarson J., Free PMC Article | 01/24/2015 |
| inhibits fibroblasts-induced activation of mast cells and dermatitis | The enzyme Cyp26b1 mediates inhibition of mast cell activation by fibroblasts to maintain skin-barrier homeostasis.
Kurashima Y, Amiya T, Fujisawa K, Shibata N, Suzuki Y, Kogure Y, Hashimoto E, Otsuka A, Kabashima K, Sato S, Sato T, Kubo M, Akira S, Miyake K, Kunisawa J, Kiyono H. | 07/19/2014 |
| We report a 2p13.2 microdeletion in 2 subjects encompasing 2 genes, EXOC6B and CYP26B12 with clinical effects on cognitive function, and craniofacial and skeletal development. | Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.
Wen J, Lopes F, Soares G, Farrell SA, Nelson C, Qiao Y, Martell S, Badukke C, Bessa C, Ylstra B, Lewis S, Isoherranen N, Maciel P, Rajcan-Separovic E., Free PMC Article | 01/4/2014 |
| Single nucleotide polymorphisms in CYP26B1, NANOS1 and STRA8 genes support involvement of meiotic program initiation genes in modifying the risk of azoospermia and oligozoospermia in a Han-Chinese population | Genetic variants in meiotic program initiation pathway genes are associated with spermatogenic impairment in a Han Chinese population.
Lu C, Xu M, Wang Y, Qin Y, Du G, Wu W, Han X, Ji C, Yang Y, Gu A, Xia Y, Song L, Wang S, Wang X., Free PMC Article | 08/31/2013 |
| CYP26B1 capacity is genetically regulated and suggest that local CYP26B1 activity may influence atherosclerosis. | A CYP26B1 polymorphism enhances retinoic acid catabolism and may aggravate atherosclerosis.
Krivospitskaya O, Elmabsout AA, Sundman E, Söderström LA, Ovchinnikova O, Gidlöf AC, Scherbak N, Norata GD, Samnegård A, Törmä H, Abdel-Halim SM, Jansson JH, Eriksson P, Sirsjö A, Olofsson PS., Free PMC Article | 11/24/2012 |
| Vascular cells express the spliced variant of CYP26B1 lacking exon 2 and it is also increased in atherosclerotic lesions | Cloning and functional studies of a splice variant of CYP26B1 expressed in vascular cells.
Elmabsout AA, Kumawat A, Saenz-Méndez P, Krivospitskaya O, Sävenstrand H, Olofsson PS, Eriksson LA, Strid A, Valen G, Törmä H, Sirsjö A., Free PMC Article | 11/3/2012 |
| Detection of the methylation prevalence of KCNA4 and CYP26B1 together in serum demonstrated the good sensitivity and specificityin gastric cancer | Hypermethylated DNA as potential biomarkers for gastric cancer diagnosis.
Zheng Y, Chen L, Li J, Yu B, Su L, Chen X, Yu Y, Yan M, Liu B, Zhu Z. | 03/3/2012 |
| Human null and hypomorphic mutations were identified in the gene encoding the retinoic acid degrading enzyme CYP26B1 that lead to skeletal and craniofacial anomalies, including fusions of long bones, calvarial bone hypoplasia, and craniosynostosis | Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.
Laue K, Pogoda HM, Daniel PB, van Haeringen A, Alanay Y, von Ameln S, Rachwalski M, Morgan T, Gray MJ, Breuning MH, Sawyer GM, Sutherland-Smith AJ, Nikkels PG, Kubisch C, Bloch W, Wollnik B, Hammerschmidt M, Robertson SP., Free PMC Article | 02/25/2012 |
| The mRNA expression of CYP26A1 and CYP26B1 correlated between human tissues except for human cerebellum in which CYP26B1 was the predominant CYP26 and liver in which CYP26A1 dominated. | Comparison of the function and expression of CYP26A1 and CYP26B1, the two retinoic acid hydroxylases.
Topletz AR, Thatcher JE, Zelter A, Lutz JD, Tay S, Nelson WL, Isoherranen N., Free PMC Article | 01/21/2012 |
| The presence of CYP26B1 in normal lung development (A549 cell line), & the capacity to convert retinol to retinoic acid, indicates that fetal human lung has the ability to regulate the supply of vitamin A from the pseudoglandular stage. | [A study of the metabolic pathways of vitamin A in the fetal human lung].
Coste K, Labbe A. | 09/17/2011 |