| A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22. | A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22.
Slavec L, Geršak K, Eberlinc A, Hovnik T, Lovrečić L, Mlinarič-Raščan I, Karas Kuželički N., Free PMC Article | 03/15/2023 |
| Findings indicate the important role of T-box 22 protein (TBX22) in familial cases with X-linked cleft palate. | Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate families.
Dai J, Xu C, Wang G, Liang Y, Wan T, Zhang Y, Xu X, Yu L, Che Z, Han Q, Wu D, Yang Y. | 10/27/2018 |
| we analysed two TBX22 promoter rs7055763 and rs41307258 single-nucleotide polymorphisms (SNPs) in 173 patients with NSCLP and 176 normal controls of south Indian origin using Kbioscience KASPar chemistry | Two promoter polymorphisms in TBX22 are associated with the risk of NSCLP in Indian women.
Gurramkonda VB, Hussain SA, Murthy J, Lakkakula BV. | 06/28/2016 |
| These results suggest that a loss-of-function mutation in the X-linked TBX22 promoter may cause the cleft palate through disruption of TBX22-ETS-1 pathway. | Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate.
Fu X, Cheng Y, Yuan J, Huang C, Cheng H, Zhou R. | 04/18/2015 |
| TBX22 is the gene underlying Abruzzo-Erickson syndrome. | X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.
Pauws E, Peskett E, Boissin C, Hoshino A, Mengrelis K, Carta E, Abruzzo MA, Lees M, Moore GE, Erickson RP, Stanier P. | 01/18/2014 |
| 5 putative missense mutations were identified, 3 located in T-box binding domain (R120Q, R126W, and R151L) that affects DNA binding and/or transcriptional repression. 2 novel C-terminal mutations, P389Q and S400Y, did not affect TBX22 activity. | Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.
Kantaputra PN, Paramee M, Kaewkhampa A, Hoshino A, Lees M, McEntagart M, Masrour N, Moore GE, Pauws E, Stanier P. | 06/4/2011 |
| Analysis of the TBX22 promoter region revealed seven sequence variants, two of which are associated with cleft palate; this effect is stronger in a subgroup stratified for the presence of ankyloglossia. | A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia.
Pauws E, Moore GE, Stanier P, Pauws E, Moore GE, Stanier P. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (5) articlesGenetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate.
Nikopensius T, Jagomägi T, Krjutskov K, Tammekivi V, Saag M, Prane I, Piekuse L, Akota I, Barkane B, Krumina A, Ambrozaityte L, Matuleviciene A, Kucinskiene ZA, Lace B, Kucinskas V, Metspalu A. MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate.
Jagomägi T, Nikopensius T, Krjutskov K, Tammekivi V, Viltrop T, Saag M, Metspalu A. A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia.
Pauws E, Moore GE, Stanier P, Pauws E, Moore GE, Stanier P. TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population.
Suphapeetiporn K, Tongkobpetch S, Siriwan P, Shotelersuk V, Suphapeetiporn K, Tongkobpetch S, Siriwan P, Shotelersuk V. PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses.
Ichikawa E, Watanabe A, Nakano Y, Akita S, Hirano A, Kinoshita A, Kondo S, Kishino T, Uchiyama T, Niikawa N, Yoshiura KI. | 03/13/2008 |
| TBX22 mutations are responsible for a significant proportion of Thai non-syndromic cleft palate cases. | TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population.
Suphapeetiporn K, Tongkobpetch S, Siriwan P, Shotelersuk V, Suphapeetiporn K, Tongkobpetch S, Siriwan P, Shotelersuk V. | 01/21/2010 |
| TBX22 is a target for the small ubiquitin-like modifier SUMO-1 and this modification is required for TBX22 repressor activity. | TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression.
Andreou AM, Pauws E, Jones MC, Singh MK, Bussen M, Doudney K, Moore GE, Kispert A, Brosens JJ, Stanier P., Free PMC Article | 01/21/2010 |
| Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia (CPX) phenotype observed in CPX patients. | Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.
Braybrook C, Lisgo S, Doudney K, Henderson D, Marçano AC, Strachan T, Patton MA, Villard L, Moore GE, Stanier P, Lindsay S. | 01/21/2010 |
| Four novel TBX22 splice site mutations in North American and Brazilian cleft palate families. | TBX22 mutations are a frequent cause of cleft palate.
Marçano AC, Doudney K, Braybrook C, Squires R, Patton MA, Lees MM, Richieri-Costa A, Lidral AC, Murray JC, Moore GE, Stanier P., Free PMC Article | 01/21/2010 |