| Deamidation enables pathogenic SMAD6 variants to activate the BMP signaling pathway. | Deamidation enables pathogenic SMAD6 variants to activate the BMP signaling pathway.
Li L, Lu L, Xiao Z, Lv J, Huang H, Wu B, Zhao T, Li C, Wang W, Wang H. | 09/9/2024 |
| Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis. | Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.
Luyckx I, Walton IS, Boeckx N, Van Schil K, Pang C, De Praeter M, Lord H, Watson CM, Bonthron DT, Van Laer L, Wilkie AOM, Loeys B., Free PMC Article | 03/25/2024 |
| Down-regulation of hsa-circ-0107593 promotes osteogenic differentiation of hADSCs via miR-20a-5p/SMAD6 signaling. | Down-regulation of hsa-circ-0107593 promotes osteogenic differentiation of hADSCs via miR-20a-5p/SMAD6 signaling.
Huang W, Wu Y, Zhao Y, Gan X, Zhang B, Cen X, Huang X, Zhao Z. | 12/15/2023 |
| miR-20a-5p regulated SMAD6 to inhibit chondrogenesis of hDPSCs. | miR-20a-5p regulated SMAD6 to inhibit chondrogenesis of hDPSCs.
Pan X, Huang X, Zhang B, Pei F, Zhao Z, Cen X. | 12/15/2023 |
| Endothelial cell SMAD6 balances Alk1 function to regulate adherens junctions and hepatic vascular development. | Endothelial cell SMAD6 balances Alk1 function to regulate adherens junctions and hepatic vascular development.
Kulikauskas MR, Oatley M, Yu T, Liu Z, Matsumura L, Kidder E, Ruter D, Bautch VL., Free PMC Article | 11/13/2023 |
| Assessing the prevalence of S-shaped root canal and associated genes in humans. | Assessing the prevalence of S-shaped root canal and associated genes in humans.
Küchler EC, Stroparo JLO, Matsumoto MN, Scariot R, Perin CP, Roskamp L, Menezes-Oliveira MAH, Proff P, Kirschneck C, Baratto-Filho F. | 10/29/2022 |
| A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis. | A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.
Shen F, Yang Y, Li P, Zheng Y, Luo Z, Fu Y, Zhu G, Mei H, Chen S, Zhu Y., Free PMC Article | 05/14/2022 |
| SMAD6 transduces endothelial cell flow responses required for blood vessel homeostasis. | SMAD6 transduces endothelial cell flow responses required for blood vessel homeostasis.
Ruter DL, Liu Z, Ngo KM, X S, Marvin A, Buglak DB, Kidder EJ, Bautch VL., Free PMC Article | 01/15/2022 |
| Genetic variants in bone morphogenetic proteins signaling pathway might be involved in palatal rugae phenotype in humans. | Genetic variants in bone morphogenetic proteins signaling pathway might be involved in palatal rugae phenotype in humans.
Silva-Sousa AC, Marañón-Vásquez GA, Stuani MBS, Proff P, Andrades KMR, Baratto-Filho F, Matsumoto MAN, Paddenberg E, Küchler EC, Kirschneck C., Free PMC Article | 10/30/2021 |
| Arginine methylation of R81 in Smad6 confines BMP-induced Smad1 signaling. | Arginine methylation of R81 in Smad6 confines BMP-induced Smad1 signaling.
Wu J, Chen X, Sehgal P, Zhang T, Jackson-Weaver O, Gou Y, Bautch V, Frenkel B, Sun H, Xu J., Free PMC Article | 09/11/2021 |
| Hsa-miR-186-5p regulates TGFbeta signaling pathway through expression suppression of SMAD6 and SMAD7 genes in colorectal cancer. | Hsa-miR-186-5p regulates TGFβ signaling pathway through expression suppression of SMAD6 and SMAD7 genes in colorectal cancer.
Bayat Z, Ghaemi Z, Behmanesh M, Soltani BM. | 09/4/2021 |
| Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease. | Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.
Musfee FI, Guo D, Pinard AC, Hostetler EM, Blue EE, Nickerson DA, University of Washington Center for Mendelian Genomics (UW-CMG), Bamshad MJ, Milewicz DM, Prakash SK., Free PMC Article | 06/5/2021 |
| HNF1B inhibits cell proliferation via repression of SMAD6 expression in prostate cancer. | HNF1B inhibits cell proliferation via repression of SMAD6 expression in prostate cancer.
Lu W, Sun J, Zhou H, Wang F, Zhao C, Li K, Fan C, Ding G, Wang J., Free PMC Article | 05/15/2021 |
| SMAD6 variants in craniosynostosis: genotype and phenotype evaluation. | SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S, Lattanzi W, Morton JEV, Shears D, Weber A, Wilson LC, Lord H, Lester T, Johnson D, Wall SA, Twigg SRF, Mathijssen IMJ, Boardman-Pretty F, Genomics England Research Consortium, Boyadjiev SA, Wilkie AOM., Free PMC Article | 05/8/2021 |
| MiR-186 promotes the apoptosis of glioma U87 cells by down-regulating the expression of Smad6. | MiR-186 promotes the apoptosis of glioma U87 cells by down-regulating the expression of Smad6.
Xu YF, Liu J, Wang J, Guo YC, Shen YZ. | 05/1/2021 |
| Foxf2 and Smad6 co-regulation of collagen 5A2 transcription is involved in the pathogenesis of intrauterine adhesion. | Foxf2 and Smad6 co-regulation of collagen 5A2 transcription is involved in the pathogenesis of intrauterine adhesion.
Chen G, Liu L, Sun J, Zeng L, Cai H, He Y., Free PMC Article | 04/24/2021 |
| Investigation of Genetic Polymorphisms in BMP2, BMP4, SMAD6, and RUNX2 and Persistent Apical Periodontitis. | Investigation of Genetic Polymorphisms in BMP2, BMP4, SMAD6, and RUNX2 and Persistent Apical Periodontitis.
Küchler EC, Hannegraf ND, Lara RM, Reis CLB, Oliveira DSB, Mazzi-Chaves JF, Ribeiro Andrades KM, Lima LF, Salles AG, Antunes LAA, Sousa-Neto MD, Antunes LS, Baratto-Filho F. | 02/2/2021 |
| Saliva exosomes-derived UBE2O mRNA promotes angiogenesis in cutaneous wounds by targeting SMAD6. | Saliva exosomes-derived UBE2O mRNA promotes angiogenesis in cutaneous wounds by targeting SMAD6.
Mi B, Chen L, Xiong Y, Yan C, Xue H, Panayi AC, Liu J, Hu L, Hu Y, Cao F, Sun Y, Zhou W, Liu G., Free PMC Article | 02/2/2021 |
| Mesenchymal Behavior of the Endothelium Promoted by SMAD6 Downregulation Is Associated With Brain Arteriovenous Malformation Microhemorrhage. | Mesenchymal Behavior of the Endothelium Promoted by SMAD6 Downregulation Is Associated With Brain Arteriovenous Malformation Microhemorrhage.
Fu W, Huo R, Yan Z, Xu H, Li H, Jiao Y, Wang L, Weng J, Wang J, Wang S, Cao Y, Zhao J. | 11/21/2020 |
| data provide improved insights into the clinical spectrum of SMAD6-related bicuspid aortic valve/thoracic aortic aneurysm and has important implications for molecular diagnostics. | Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.
Luyckx I, MacCarrick G, Kempers M, Meester J, Geryl C, Rombouts O, Peeters N, Claes C, Boeckx N, Sakalihasan N, Jacquinet A, Hoischen A, Vandeweyer G, Van Lent S, Saenen J, Van Craenenbroeck E, Timmermans J, Duijnhouwer A, Dietz H, Van Laer L, Loeys B, Verstraeten A., Free PMC Article | 06/13/2020 |
| LTBP1 and Smad6 expression levels were evaluated by real-time PCR. | Evaluation of the LTBP1 and Smad6 Genes Expression in Lung Tissue of Sulfur Mustard-exposed Individuals with Long-term Pulmonary Complications.
Mami S, Ghaffarpour S, Faghihzadeh S, Ghazanfari T. | 05/30/2020 |
| Midline nonsyndromic synostosis caused by SMAD6 mutations led to poorer head-to-head performance on mathematics, performance intelligence quotient, full-scale intelligence quotient, and motor coordination compared to non-SMAD6 craniosynostosis patients, even after controlling for factors that influence cognition. SMAD6 patients had additional behavioral deficits in inhibition and behavior regulation. | SMAD6 Genotype Predicts Neurodevelopment in Nonsyndromic Craniosynostosis.
Wu RT, Timberlake AT, Abraham PF, Gabrick KS, Lu X, Peck CJ, Sawh-Martinez RF, Steinbacher DM, Alperovich MA, Persing JA. | 05/30/2020 |
| Exome sequencing identified 16 loss-of-function (LOF) and 6 missense variants (minor allele frequency [MAF] < 0.0001) in 22/117 nonsyndromic radioulnar synostosis (nsRUS) sporadic patients. Genetic association analysis found a significant association between SMAD6-LOF variants and nsRUS risk (odds ratio [OR] = 430, 95% confidence interval [CI]: 238-780, P < 0.000001). | SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis.
Yang Y, Zheng Y, Li W, Li L, Tu M, Zhao L, Mei H, Zhu G, Zhu Y. | 05/2/2020 |
| SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cells. | SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cells.
Janin A, Bauer D, Ratti F, Valla C, Bertrand A, Christin E, Chopin E, Streichenberger N, Bonne G, Gache V, Cohen T, Méjat A., Free PMC Article | 10/26/2019 |
| A novel SMAD6 variant was identified in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm. | A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm.
Park JE, Park JS, Jang SY, Park SH, Kim JW, Ki CS, Kim DK., Free PMC Article | 06/29/2019 |