Boston Children's Hospital


Klinik

Standort der Organisation:
Boston, MA, Vereinigte Staaten von Amerika (USA)


Publikationen in Kooperation mit FAU-Wissenschaftlerinnen und Wissenschaftlern


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
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

Zuletzt aktualisiert 2016-06-09 um 13:42