| A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25. | A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25.
Mahmood A, Samad A, Shah AA, Wadood A, Alkathiri A, Alshehri MA, Alam MZ, Hussain T, He P, Umair M. | 01/14/2023 |
| Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking. | Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking.
Swan AH, Schindler RFR, Savarese M, Mayer I, Rinné S, Bleser F, Schänzer A, Hahn A, Sabatelli M, Perna F, Chapman K, Pfuhl M, Spivey AC, Decher N, Udd B, Tasca G, Brand T., Free PMC Article | 01/14/2023 |
| Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1). | Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1).
Gangfuß A, Hentschel A, Heil L, Gonzalez M, Schönecker A, Depienne C, Nishimura A, Zengeler D, Kohlschmidt N, Sickmann A, Schara-Schmidt U, Fürst DO, van der Ven PFM, Hahn A, Roos A, Schänzer A. | 06/25/2022 |
| An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs. | An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs.
Holt I, Fuller HR, Schindler RFR, Shirran SL, Brand T, Morris GE., Free PMC Article | 07/31/2021 |
| The Transition from Gastric Intestinal Metaplasia to Gastric Cancer Involves POPDC1 and POPDC3 Downregulation. | The Transition from Gastric Intestinal Metaplasia to Gastric Cancer Involves POPDC1 and POPDC3 Downregulation.
Gingold-Belfer R, Kessler-Icekson G, Morgenstern S, Rath-Wolfson L, Zemel R, Boltin D, Levi Z, Herman-Edelstein M., Free PMC Article | 07/3/2021 |
| BVES downregulation in non-syndromic tetralogy of fallot is associated with ventricular outflow tract stenosis. | BVES downregulation in non-syndromic tetralogy of fallot is associated with ventricular outflow tract stenosis.
Shi Y, Li Y, Wang Y, Zhu P, Chen Y, Wang H, Yue S, Xia X, Chen J, Jiang Z, Zhou C, Cai W, Yuan H, Wu Y, Wan Y, Li X, Zhu X, Zhou Z, Dai G, Li F, Mo X, Ye X, Fan X, Zhuang J, Wu X, Yuan W., Free PMC Article | 01/9/2021 |
| c.385C>T (p.R129W) is a functional SNP of the BVES gene that reduces the transcriptional activity of BVES in vitro and in vivo in TOF tissues. This subsequently affects the transcriptional activities of GATA4 and NKX2.5 related to TOF. These findings suggest that c.385C>T may be associated with the risk of TOF in the Han Chinese population. | The Functional Polymorphism R129W in the BVES Gene Is Associated with Sporadic Tetralogy of Fallot in the Han Chinese Population.
Shi Y, Li Y, Wang Y, Zhuang J, Wang H, Hu M, Mo X, Yue S, Chen Y, Fan X, Chen J, Cai W, Zhu X, Wan Y, Zhong Y, Ye X, Li F, Zhou Z, Dai G, Luo R, Ocorr K, Jiang Z, Li X, Zhu P, Wu X, Yuan W., Free PMC Article | 02/8/2020 |
| BVES plays a protective role both in ulcerative and infectious colitis. | BVES is required for maintenance of colonic epithelial integrity in experimental colitis by modifying intestinal permeability.
Choksi YA, Reddy VK, Singh K, Barrett CW, Short SP, Parang B, Keating CE, Thompson JJ, Verriere TG, Brown RE, Piazuelo MB, Bader DM, Washington MK, Mittal MK, Brand T, Gobert AP, Coburn LA, Wilson KT, Williams CS., Free PMC Article | 07/27/2019 |
| Functional suppression of POPDC1 promoted breast cancer cell migration and proliferation, cAMP interacts with POPDC1 and up-regulates its expression in breast cancer cells. | Dysregulation of POPDC1 promotes breast cancer cell migration and proliferation.
Amunjela JN, Tucker SJ., Free PMC Article | 08/4/2018 |
| recently a novel family of cAMP effector proteins emerged and was termed the Popeye domain containing (POPDC) family, which consists of three members POPDC1, POPDC2 and POPDC3. POPDC proteins are transmembrane proteins, which are abundantly present in striated and smooth muscle cells. POPDC proteins bind cAMP with high affinity comparable to PKA | New kids on the block: The Popeye domain containing (POPDC) protein family acting as a novel class of cAMP effector proteins in striated muscle.
Brand T, Schindler R., Free PMC Article | 06/16/2018 |
| Study shows that EGFR negatively regulates POPDC1 expression in breast cancer cell lines and that overexpression of POPDC1 can reduce EGFR-mediated cell migration and proliferation in breast cancer cells. | POPDC1 is suppressed in human breast cancer tissues and is negatively regulated by EGFR in breast cancer cell lines.
Amunjela JN, Tucker SJ. | 09/23/2017 |
| BVES plays a key role in maintaining the integrity of the colonic mucosa and protecting from inflammatory carcinogenesis. Results also suggest that BVES promotes the post-translational degradation of c-Myc. | BVES regulates c-Myc stability via PP2A and suppresses colitis-induced tumourigenesis.
Parang B, Kaz AM, Barrett CW, Short SP, Ning W, Keating CE, Mittal MK, Naik RD, Washington MK, Revetta FL, Smith JJ, Chen X, Wilson KT, Brand T, Bader DM, Tansey WP, Chen R, Brentnall TA, Grady WM, Williams CS., Free PMC Article | 07/15/2017 |
| Forced expression of POPDC1(S201F) in a murine cardiac muscle cell line (HL-1) increased hyperpolarization and upstroke velocity of the action potential | POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.
Schindler RF, Scotton C, Zhang J, Passarelli C, Ortiz-Bonnin B, Simrick S, Schwerte T, Poon KL, Fang M, Rinné S, Froese A, Nikolaev VO, Grunert C, Müller T, Tasca G, Sarathchandra P, Drago F, Dallapiccola B, Rapezzi C, Arbustini E, Di Raimo FR, Neri M, Selvatici R, Gualandi F, Fattori F, Pietrangelo A, Li W, Jiang H, Xu X, Bertini E, Decher N, Wang J, Brand T, Ferlini A., Free PMC Article | 06/28/2016 |
| These results suggest that down-regulation of BVES in hepatocellular carcinoma induces epithelial-mesenchymal transition, thus promoting invasion and metastasis in HCC cells. | BVES inhibition triggers epithelial-mesenchymal transition in human hepatocellular carcinoma.
Han P, Fu Y, Luo M, He J, Liu J, Liao J, Tian D, Yan W. | 06/14/2014 |
| Coding sequence and splice junctions of BVES were sequenced in 114 unrelated patients with Tetralogy of Fallot and 400 unrelated healthy individuals.Four novel BVES mutations were identified in patients with TOF but not in the 400 controls. | Mutational and functional analysis of the BVES gene coding region in Chinese patients with non-syndromic tetralogy of Fallot.
Wu M, Li Y, He X, Shao X, Yang F, Zhao M, Wu C, Zhang C, Zhou L. | 04/26/2014 |
| Popdc1 (Bves) modulates cardiac pacemaker activity in response to stress and displays high expression levels in the sinus node. The Popeye domain acts as a high-affinity cAMP binding domain and Popdc proteins interact with the ion channel TREK-1. | Popeye domain containing proteins are essential for stress-mediated modulation of cardiac pacemaking in mice.
Froese A, Breher SS, Waldeyer C, Schindler RF, Nikolaev VO, Rinné S, Wischmeyer E, Schlueter J, Becher J, Simrick S, Vauti F, Kuhtz J, Meister P, Kreissl S, Torlopp A, Liebig SK, Laakmann S, Müller TD, Neumann J, Stieber J, Ludwig A, Maier SK, Decher N, Arnold HH, Kirchhof P, Fabritz L, Brand T., Free PMC Article | 09/21/2012 |
| Low Bves expression is associated with gastric cancer progression. | Abnormal expression of adhesion protein Bves is associated with gastric cancer progression and poor survival.
Luo D, Huang H, Lu ML, Zhao GF, Chang J, Zheng MY, Wang Y. | 08/4/2012 |
| BVES was found to be underexpressed in all stages of colorectal carcinoma and in adenomatous polyps, indicating its suppression occurs early in transformation. | BVES regulates EMT in human corneal and colon cancer cells and is silenced via promoter methylation in human colorectal carcinoma.
Williams CS, Zhang B, Smith JJ, Jayagopal A, Barrett CW, Pino C, Russ P, Presley SH, Peng D, Rosenblatt DO, Haselton FR, Yang JL, Washington MK, Chen X, Eschrich S, Yeatman TJ, El-Rifai W, Beauchamp RD, Chang MS., Free PMC Article | 11/26/2011 |
| Bves expression and localization can regulate RhoA and ZONAB/DbpA activity. | Bves modulates tight junction associated signaling.
Russ PK, Pino CJ, Williams CS, Bader DM, Haselton FR, Chang MS., Free PMC Article | 08/6/2011 |
| Data suggest that POPDC gene expression is modified in end-stage heart failure in humans in a manner suggesting regulatory and/or functional differences between the three family members and that POPDC1 is particularly susceptible to this condition. | Popeye domain-containing 1 is down-regulated in failing human hearts.
Gingold-Belfer R, Bergman M, Alcalay Y, Schlesinger H, Aravot D, Berman M, Salman H, Brand T, Kessler-Icekson G. | 04/23/2011 |
| Frequent silencing of BVES is associated with promoter hypermethylation in gastric cancer. | Frequent silencing of popeye domain-containing genes, BVES and POPDC3, is associated with promoter hypermethylation in gastric cancer.
Kim M, Jang HR, Haam K, Kang TW, Kim JH, Kim SY, Noh SM, Song KS, Cho JS, Jeong HY, Kim JC, Yoo HS, Kim YS. | 10/4/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
Zhao J, Li M, Bradfield JP, Zhang H, Mentch FD, Wang K, Sleiman PM, Kim CE, Glessner JT, Hou C, Keating BJ, Thomas KA, Garris ML, Deliard S, Frackelton EC, Otieno FG, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF., Free PMC Article | 09/15/2010 |
| Methylation of BVES was present in 80% of NSCLC tissues but only 14% of noncancerous tissues. | DNA methylation in tumor and matched normal tissues from non-small cell lung cancer patients.
Feng Q, Hawes SE, Stern JE, Wiens L, Lu H, Dong ZM, Jordan CD, Kiviat NB, Vesselle H., Free PMC Article | 01/21/2010 |