Burkhalter, M.D., Sridhar, A., Sampaio, P., Jacinto, R., Burczyk, M.S., Donow, C., Angenendt, M., Investigators, C.N.F.C.H.D., Hempel, M., Walther, P., Pennekamp, P., Omran, H., Lopes, S.S., Ware, S.M., Philipp, M. (2019) Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis. The Journal of Clinical Investigation. 130:2841-2855
|
|
|
Derrick, C.J., Szenker-Ravi, E., Santos-Ledo, A., Alqahtani, A., Yusof, A., Eley, L., Coleman, A.H.L., Tohari, S., Ng, A.Y., Venkatesh, B., Alharby, E., Mansard, L., Bonnet-Dupeyron, M.N., Roux, A.F., Vaché, C., Roume, J., Bouvagnet, P., Almontashiri, N.A.M., Henderson, D.J., Reversade, B., Chaudhry, B. (2023) Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish. Human molecular genetics. 33(2):150-169
|
Guimier, A., Gabriel, G.C., Bajolle, F., Tsang, M., Liu, H., Noll, A., Schwartz, M., El Malti, R., Smith, L.D., Klena, N.T., Jimenez, G., Miller, N.A., Oufadem, M., Moreau de Bellaing, A., Yagi, H., Saunders, C.J., Baker, C.N., Di Filippo, S., Peterson, K.A., Thiffault, I., Bole-Feysot, C., Cooley, L.D., Farrow, E.G., Masson, C., Schoen, P., Deleuze, J.F., Nitschké, P., Lyonnet, S., de Pontual, L., Murray, S.A., Bonnet, D., Kingsmore, S.F., Amiel, J., Bouvagnet, P., Lo, C.W., Gordon, C.T. (2015) MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. Nature Genetics. 47(11):1260-3
|
Lessel, D., Muhammad, T., Casar Tena, T., Moepps, B., Burkhalter, M.D., Hitz, M.P., Toka, O., Rentzsch, A., Schubert, S., Schalinski, A., Bauer, U.M., Kubisch, C., Ware, S.M., Philipp, M. (2016) The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5. Scientific Reports. 6:33231
|
Li, Y., Yagi, H., Onuoha, E.O., Damerla, R.R., Francis, R., Furutani, Y., Tariq, M., King, S.M., Hendricks, G., Cui, C., Saydmohammed, M., Lee, D.M., Zahid, M., Sami, I., Leatherbury, L., Pazour, G.J., Ware, S.M., Nakanishi, T., Goldmuntz, E., Tsang, M., Lo, C.W. (2016) DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. PLoS Genetics. 12:e1005821
|
Liang, S., Shi, X., Yu, C., Shao, X., Zhou, H., Li, X., Chang, C., Lai, K.S., Ma, J., Zhang, R. (2020) Identification of novel candidate genes in heterotaxy syndrome patients with congenital heart diseases by whole exome sequencing. Biochimica et biophysica acta. Molecular basis of disease. 1866(12):165906
|
Liu, C., Cao, R., Xu, Y., Li, T., Li, F., Chen, S., Xu, R., Sun, K. (2018) Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects. Genome Medicine. 10:40
|
Ma, A.C.H., Mak, C.C.Y., Yeung, K.S., Pei, S.L.C., Ying, D., Yu, M.H.C., Hasan, K.M.M., Chen, X., Chow, P.C., Cheung, Y.F., Chung, B.H.Y. (2020) Mono-allelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction. Circulation. Genomic and precision medicine. 13(6):e003000
|
Noël, E.S., Momenah, T.S., Al-Dagriri, K., Al-Suwaid, A., Al-Shahrani, S., Jiang, H., Willekers, S., Oostveen, Y.Y., Chocron, S., Postma, A.V., Bhuiyan, Z.A., Bakkers, J. (2016) A zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals its Specific Role in Laterality Organ Function. Human Mutation. 37(2):194-200
|
Paulussen, A.D., Steyls, A., Vanoevelen, J., van Tienen, F.H., Krapels, I.P., Claes, G.R., Chocron, S., Velter, C., Tan-Sindhunata, G.M., Lundin, C., Valenzuela, I., Nagy, B., Bache, I., Maroun, L.L., Avela, K., Brunner, H.G., Smeets, H.J., Bakkers, J., van den Wijngaard, A. (2016) Rare novel variants in the ZIC3 gene cause X-linked heterotaxy. European journal of human genetics : EJHG. 24(12):1783-1791
|
Perles, Z., Moon, S., Ta-Shma, A., Yaacov, B., Francescatto, L., Edvardson, S., Rein, A.J., Elpeleg, O., Katsanis, N. (2015) A human laterality disorder caused by a homozygous deleterious mutation in MMP21. Journal of Medical Genetics. 52(12):840-7
|
