→ Vivante, A., Chacham, O.S., Shril, S., Schreiber, R., Mane, S.M., Pode-Shakked, B.,... Hildebrandt, F. (2019). Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children. Pediatric Nephrology. https://dx.doi.org/10.1007/s00467-019-04256-0 |
→ Boonsawat, P., Joset, P., Steindl, K., Oneda, B., Gogoll, L., Azzarello-Burri, S.,... Rauch, A. (2019). Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genetics in Medicine, 21(9), 2043-2058. https://dx.doi.org/10.1038/s41436-019-0464-7 |
→ Airik, R., Airik, M., Schüler, M., Bates, C.M., & Hildebrandt, F. (2019). Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys. Kidney International. https://dx.doi.org/10.1016/j.kint.2019.04.014 |
→ Buß, M., Tegtmeyer, N., Schnieder, J., Dong, X., Li, J., Springer, T.A.,... Niemann, H.H. (2019). Specific high affinity interaction of Helicobacter pylori CagL with integrin αVβ6 promotes type IV secretion of CagA into human cells. Febs Journal. https://dx.doi.org/10.1111/febs.14962 |
→ Beziat, V., Li, J., Lin, J.-X., Ma, C.S., Li, P., Bousfiha, A.,... Casanova, J.-L. (2018). A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. Science immunology, 3(24). https://dx.doi.org/10.1126/sciimmunol.aat4956 |
→ Blok, L.S., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H.,... Campeau, P.M. (2018). CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 9(1). https://dx.doi.org/10.1038/s41467-018-06014-6 |
→ Straub, J., Konrad, E., Grüner, J., Toutain, A., Bok, L.A., Cho, M.T.,... Zweier, C. (2018). Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. American Journal of Human Genetics, 102(1), 44-57. https://dx.doi.org/10.1016/j.ajhg.2017.11.008 |
→ Zebrowski, D., Jensen, C.H., Becker, R., Ferrazzi, F., Baun, C., Hvidsten, S.,... Engel, F. (2017). Cardiac injury of the newborn mammalian heart accelerates cardiomyocyte terminal differentiation. Scientific Reports, 7(1), 8362. https://dx.doi.org/10.1038/s41598-017-08947-2 |
→ Pyzik, M., Rath, T., Kuo, T.T., Win, S., Baker, K., Hubbard, J.J.,... Blumberg, R.S. (2017). Hepatic FcRn regulates albumin homeostasis and susceptibility to liver injury. Proceedings of the National Academy of Sciences of the United States of America, 114(14), E2862-E2871. https://dx.doi.org/10.1073/pnas.1618291114 |
→ D'Gama, A.M., Woodworth, M.B., Hossain, A.A., Bizzotto, S., Hatem, N.E., Lacoursiere, C.M.,... Walsh, C.A. (2017). Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. Cell Reports, 21(13), 3754-3766. https://dx.doi.org/10.1016/j.celrep.2017.11.106 |
→ Zhuang, H., Han, S., Li, Y., Kienhöfer, D., Lee, P., Shumyak, S.,... Reeves, W.H. (2016). A Novel Mechanism for Generating the Interferon Signature in Lupus: Opsonization of Dead Cells by Complement and IgM. Arthritis and Rheumatology, 68(12), 2917-2928. https://dx.doi.org/10.1002/art.39781 |
→ Wang, Y., Ma, C.S., Ling, Y., Bousfiha, A., Camcioglu, Y., Jacquot, S.,... Casanova, J.-L. (2016). Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations. Journal of Experimental Medicine, 213(11), 2413-2435. https://dx.doi.org/10.1084/jem.20160576 |
→ Hamann, J., Aust, G., Arac, D., Engel, F., Formstone, C., Fredriksson, R.,... Schoeith, H.B. (2015). International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors. Pharmacological Reviews, 67(2), 338-67. https://dx.doi.org/10.1124/pr.114.009647 |
→ Perry, J.R.B., Hsu, Y.-H., Chasman, D.I., Johnson, A.D., Elks, C., Albrecht, E.,... Murray, A. (2014). DNA mismatch repair gene MSH6 implicated in determining age at natural menopause. Human Molecular Genetics, 23(9), 2490-7. https://dx.doi.org/10.1093/hmg/ddt620 |
→ Liebscher, I., Ackley, B., Arac, D., Ariestanti, D.M., Aust, G., Bae, B.-I.,... Piao, X. (2014). New functions and signaling mechanisms for the class of adhesion G protein-coupled receptors. Annals of the New York Academy of Sciences, 1333(1), 43-64. https://dx.doi.org/10.1111/nyas.12580 |
→ Perry, J.R.B., Day, F., Elks, C.E., Sulem, P., Thompson, D.J., Ferreira, T.,... Ong, K.K. (2014). Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature, 514(7520), 92-7. https://dx.doi.org/10.1038/nature13545 |
→ Bhattacharyya, S., Deb, J., Patra, A.K., Duong Anh Thuy Pham, ., Chen, W., Vaeth, M.,... Serfling, E. (2011). NFATc1 affects mouse splenic B cell function by controlling the calcineurin-NFAT signaling network. Journal of Experimental Medicine, 208(4), 823-839. https://dx.doi.org/10.1084/jem.20100945 |
→ Schumacher, V.A., Schlötzer-Schrehardt, U., Karumanchi, S.A., Shi, X., Zaia, J., Jeruschke, S.,... Ai, X. (2011). WT1-dependent sulfatase expression maintains the normal glomerular filtration barrier. Journal of the American Society of Nephrology, 22(7), 1286-96. https://dx.doi.org/10.1681/ASN.2010080860 |