المؤلفون: Klämbt, V., Buerger, F., Wang, C., Naert, Thomas, Richter, K., Nauth, T., Weiss, A. C., Sieckmann, T., Lai, E., Connaughton, D., Seltzsam, S., Mann, N., Majmundar, A., Wu, C. H., Onuchic-Whitford, A., Shril, S., Schneider, S., Schierbaum, L., Dai, R., Bekheirnia, M. R., Joosten, M., Shlomovitz, O., Vivante, A., Banne, E., Mane, S., Lifton, R. P., Kirschner, K., Kispert, A., Rosenberger, G., Fischer, K. D., Lienkamp, S., Zegers, M., Hildebrandt, F.

المصدر: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY ; ISSN: 1046-6673 ; ISSN: 1533-3450

مصطلحات موضوعية: Biology and Life Sciences, CAKUT, monogenic kidney disease, development, pediatric, urinary tract, REGULATES BRANCHING MORPHOGENESIS, NUCLEOTIDE EXCHANGE FACTORS, INTEGRIN-LINKED KINASE, MDCK CELL-CULTURE, ALPHA-PIX, EXTRACELLULAR-MATRIX, PROTEIN NEPHRONECTIN, INBRED MOUSE, MUTATIONS, SEQUENCE

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/01GJQDNNQDMV8QSF4Y3RSB5V21Test; http://hdl.handle.net/1854/LU-01GJQDNNQDMV8QSF4Y3RSB5V21Test; http://dx.doi.org/10.1681/asn.2022010050Test; https://biblio.ugent.be/publication/01GJQDNNQDMV8QSF4Y3RSB5V21/file/01GJQDTCQ7G8KTD1HQRKXTKVKQTest

الإتاحة: https://doi.org/10.1681/asn.2022010050Test
https://biblio.ugent.be/publication/01GJQDNNQDMV8QSF4Y3RSB5V21Test
http://hdl.handle.net/1854/LU-01GJQDNNQDMV8QSF4Y3RSB5V21Test
https://biblio.ugent.be/publication/01GJQDNNQDMV8QSF4Y3RSB5V21/file/01GJQDTCQ7G8KTD1HQRKXTKVKQTest

المؤلفون: Connaughton, D., Dai, R., Owen, D., Marquez, J., Mann, N., Graham-Paquin, A., Nakayama, M., Coyaud, E., Laurent, E., St-Germain, J., Snijders Blok, L., Vino, A., Klämbt, V., Deutsch, K., Wu, C., Kolvenbach, C., Kause, F., Ottlewski, I., Schneider, R., Kitzler, T., Majmundar, A., Buerger, F., Onuchic-Whitford, A., Youying, M., Kolb, A., Salmanullah, D., Chen, E., Van der Ven, A., Rao, J., Ityel, H., Seltzsam, S., Rieke, J., Chen, J., Vivante, A., Hwang, D., Kohl, S., Dworschak, G., Hermle, T., Alders, M., Bartolomaeus, T., Bauer, S., Baum, M., Brilstra, E., Challman, T., Zyskind, J., Costin, C., Dipple, K., Duijkers, F., Ferguson, M., Fitzpatrick, D., Fick, R., Glass, I., Hulick, P., Kline, A., Krey, I., Kumar, S., Lu, W., Marco, E., Wentzensen, I., Mefford, H., Platzer, K., Povolotskaya, I., Savatt, J., Shcherbakova, N., Senguttuvan, P., Squire, A., Stein, D., Thiffault, I., Voinova, V., Somers, M., Traum, A., Daouk, G., Daga, A., Rodig, N., Terhal, P., Van Binsbergen, E., Eid, L., Tasic, V., Rasouly, H., Lim, T., Ahram, D., Gharavi, A., Reutter, H., Rehm, H., MacArthur, D., Lek, M., Laricchia, K., Lifton, R., Xu, H., Mane, S., Sanna-Cherchi, S., Sharrocks, A., Raught, B., Fisher, S., Bouchard, M., Khokha, M., Shril, S., Hildebrandt, F.

المصدر: The American Journal of Human Genetics

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet

العلاقة: http://hdl.handle.net/21.11116/0000-0006-F601-3Test; http://hdl.handle.net/21.11116/0000-0006-F604-0Test; http://hdl.handle.net/21.11116/0000-0006-F605-FTest; http://hdl.handle.net/21.11116/0000-0006-F606-ETest; http://hdl.handle.net/21.11116/0000-0007-4E87-ATest

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.08.013Test
http://hdl.handle.net/21.11116/0000-0006-F601-3Test
http://hdl.handle.net/21.11116/0000-0006-F604-0Test
http://hdl.handle.net/21.11116/0000-0006-F605-FTest
http://hdl.handle.net/21.11116/0000-0006-F606-ETest
http://hdl.handle.net/21.11116/0000-0007-4E87-ATest

المؤلفون: Schneider, R., Deutsch, K., Hoeprich, G.J., Marquez, J., Hermle, T., Braun, D.A., Seltzsam, S., Kitzler, T.M., Mao, Y., Buerger, F., Majmundar, A.J., Onuchic-Whitford, A.C., Kolvenbach, C.M., Schierbaum, L., Schneider, S., Halawi, A.A., Nakayama, M., Mann, N., Connaughton, D.M., Klämbt, V., Wagner, M., Riedhammer, K.M., Renders, L., Katsura, Y., Thumkeo, D., Soliman, N.A., Mane, S., Lifton, R.P., Shril, S., Khokha, M.K., Hoefele, J., Goode, B.L., Hildebrandt, F.

المصدر: Am. J. Hum. Genet. 107, 1113-1128 (2020)

مصطلحات موضوعية: Actin Cytoskeleton, Daam2, Formins, Monogenic Kidney Diseases, Podocytopathy, Steroid-resistant Nephrotic Syndrome

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000596042000007; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics/altIdentifier/pissn/0002-9297; info:eu-repo/semanti; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60786Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.11.008Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60786Test

المؤلفون: Klämbt, V., Buerger, F., Wang, C., Naert, T., Richter, K., Nauth, T., Weiss, A.C., Sieckmann, T., Lai, E., Connaughton, D.M., Seltzsam, S., Mann, N., Majmundar, A.J., Wu, C.W., Onuchic-Whitford, A.C., Shril, S., Schneider, S., Schierbaum, L., Dai, R., Bekheirnia, M.R., Joosten, Marieke, Shlomovitz, O., Vivante, A., Banne, E., Mane, S., Lifton, R.P., Kirschner, K.M., Kispert, A., Rosenberger, G., Fischer, K.D., Lienkamp, S.S., Zegers, M.M.P., Hildebrandt, F.

المصدر: Journal of the American Society of Nephrology, 34, 2, pp. 273-290

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 17: Women's cancers Cell Biology (UMC)

العلاقة: https://repository.ubn.ru.nl/handle/2066/290858Test

الإتاحة: https://doi.org/10.1681/ASN.2022010050Test
https://repository.ubn.ru.nl/handle/2066/290858Test

المؤلفون: Klämbt, V., Werth, M., Onuchic-Whitford, A.C., Getwan, M., Kitzler, T.M., Buerger, F., Mao, Y., Deutsch, K., Mann, N., Majmundar, A.J., Kaminski, M.M., Shen, Tian, Schmidt-Ott, K.M., Shalaby, M., El Desoky, S., Kari, J.A., Shril, S., Lienkamp, S.S., Barasch, J., Hildebrandt, F.

مصطلحات موضوعية: Cardiovascular and Metabolic Diseases

العلاقة: Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans. Klämbt, V. and Werth, M. and Onuchic-Whitford, A.C. and Getwan, M. and Kitzler, T.M. and Buerger, F. and Mao, Y. and Deutsch, K. and Mann, N. and Majmundar, A.J. and Kaminski, M.M. and Shen, Tian and Schmidt-Ott, K.M. and Shalaby, M. and El Desoky, S. and Kari, J.A. and Shril, S. and Lienkamp, S.S. and Barasch, J. and Hildebrandt, F. Nephrology Dialysis Transplantation 36 (2): 237-246. February 2021

الإتاحة: https://doi.org/10.1093/ndt/gfaa215Test
http://edoc.mdc-berlin.de/19510Test/
https://edoc.mdc-berlin.de/19510Test/

المؤلفون: Weng, P.L., Majmundar, A.J., Khan, K., Lim, T.Y., Shril, S., Jin, G., Musgrove, J., Wang, M., Ahram, D.F., Aggarwal, V.S., Bier, L.E., Heinzen, E.L., Onuchic-Whitford, A.C., Mann, N., Buerger, F., Schneider, R., Deutsch, K., Kitzler, T.M., Klämbt, V., Kolb, A., Mao, Y., Moufawad El Achkar, C., Mitrotti, A., Martino, J., Beck, B.B., Altmüller, J., Benz, M.R., Yano, S., Mikati, M.A., Gunduz, T., Cope, H., Shashi, V., Trachtman, H., Bodria, M., Caridi, G., Pisani, I., Fiaccadori, E., AbuMaziad, A.S., Martinez-Agosto, J.A., Yadin, O., Zuckerman, J., Kim, A., John-Kroegel, U., Tyndall, A.V., Parboosingh, J.S., Innes, A.M., Bierzynska, A., Koziell, A.B., Muorah, M., Saleem, M.A., Hoefele, J., Riedhammer, K.M., Gharavi, A.G., Jobanputra, V., Pierce-Hoffman, E., Seaby, E.G., O'Donnell-Luria, A., Rehm, H.L., Mane, S., D'Agati, V.D., Pollak, M.R., Ghiggeri, G.M., Lifton, R.P., Goldstein, D.B., Davis, E.E., Hildebrandt, F., Sanna-Cherchi, S.

مصطلحات موضوعية: Technology Platforms

العلاقة: De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Weng, P.L. and Majmundar, A.J. and Khan, K. and Lim, T.Y. and Shril, S. and Jin, G. and Musgrove, J. and Wang, M. and Ahram, D.F. and Aggarwal, V.S. and Bier, L.E. and Heinzen, E.L. and Onuchic-Whitford, A.C. and Mann, N. and Buerger, F. and Schneider, R. and Deutsch, K. and Kitzler, T.M. and Klämbt, V. and Kolb, A. and Mao, Y. and Moufawad El Achkar, C. and Mitrotti, A. and Martino, J. and Beck, B.B. and Altmüller, J. and Benz, M.R. and Yano, S. and Mikati, M.A. and Gunduz, T. and Cope, H. and Shashi, V. and Trachtman, H. and Bodria, M. and Caridi, G. and Pisani, I. and Fiaccadori, E. and AbuMaziad, A.S. and Martinez-Agosto, J.A. and Yadin, O. and Zuckerman, J. and Kim, A. and John-Kroegel, U. and Tyndall, A.V. and Parboosingh, J.S. and Innes, A.M. and Bierzynska, A. and Koziell, A.B. and Muorah, M. and Saleem, M.A. and Hoefele, J. and Riedhammer, K.M. and Gharavi, A.G. and Jobanputra, V. and Pierce-Hoffman, E. and Seaby, E.G. and O'Donnell-Luria, A. and Rehm, H.L. and Mane, S. and D'Agati, V.D. and Pollak, M.R. and Ghiggeri, G.M. and Lifton, R.P. and Goldstein, D.B. and Davis, E.E. and Hildebrandt, F. and Sanna-Cherchi, S. American Journal of Human Genetics 108 (2): 357-367. 4 February 2021

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.01.008Test
http://edoc.mdc-berlin.de/20509Test/
https://edoc.mdc-berlin.de/20509Test/

المؤلفون: Kaminski, M.M., Alcantar, M.A., Lape, I.T., Greensmith, R., Huske, A.C., Valeri, J.A., Marty, F.M., Klämbt, V., Azzi, J., Akalin, E., Riella, L.V., Collins, J.J.

مصطلحات موضوعية: Cardiovascular and Metabolic Diseases

العلاقة: A CRISPR-based assay for the detection of opportunistic infections post-transplantation and for the monitoring of transplant rejection. Kaminski, M.M. and Alcantar, M.A. and Lape, I.T. and Greensmith, R. and Huske, A.C. and Valeri, J.A. and Marty, F.M. and Klämbt, V. and Azzi, J. and Akalin, E. and Riella, L.V. and Collins, J.J. Nature Biomedical Engineering 4 (6): 601-609. June 2020

الإتاحة: https://doi.org/10.1038/s41551-020-0546-5Test
http://edoc.mdc-berlin.de/18859Test/
https://edoc.mdc-berlin.de/18859Test/