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Page 1
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Devane J, Ott E, Olinger EG, Epting D, Decker E, Friedrich A, Bachmann N, Renschler G, Eisenberger T, Briem-Richter A, Grabhorn EF, Powell L, Wilson IJ, Rice SJ, Miles CG, Wood K; Genomics England Research Consortium; Trivedi P, Hirschfield G, Pietrobattista A, Wohler E, Mezina A, Sobreira N, Agolini E, Maggiore G, Dahmer-Heath M, Yilmaz A, Boerries M, Metzger P, Schell C, Grünewald I, Konrad M, König J, Schlevogt B, Sayer JA, Bergmann C. Devane J, et al. Among authors: schell c. Am J Hum Genet. 2022 May 5;109(5):928-943. doi: 10.1016/j.ajhg.2022.03.015. Epub 2022 Apr 8. Am J Hum Genet. 2022. PMID: 35397207 Free PMC article.
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
Hoff S, Halbritter J, Epting D, Frank V, Nguyen TM, van Reeuwijk J, Boehlke C, Schell C, Yasunaga T, Helmstädter M, Mergen M, Filhol E, Boldt K, Horn N, Ueffing M, Otto EA, Eisenberger T, Elting MW, van Wijk JA, Bockenhauer D, Sebire NJ, Rittig S, Vyberg M, Ring T, Pohl M, Pape L, Neuhaus TJ, Elshakhs NA, Koon SJ, Harris PC, Grahammer F, Huber TB, Kuehn EW, Kramer-Zucker A, Bolz HJ, Roepman R, Saunier S, Walz G, Hildebrandt F, Bergmann C, Lienkamp SS. Hoff S, et al. Among authors: schell c. Nat Genet. 2013 Aug;45(8):951-6. doi: 10.1038/ng.2681. Epub 2013 Jun 23. Nat Genet. 2013. PMID: 23793029 Free PMC article.
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
Hwang DY, Kohl S, Fan X, Vivante A, Chan S, Dworschak GC, Schulz J, van Eerde AM, Hilger AC, Gee HY, Pennimpede T, Herrmann BG, van de Hoek G, Renkema KY, Schell C, Huber TB, Reutter HM, Soliman NA, Stajic N, Bogdanovic R, Kehinde EO, Lifton RP, Tasic V, Lu W, Hildebrandt F. Hwang DY, et al. Among authors: schell c. Hum Genet. 2015 Aug;134(8):905-16. doi: 10.1007/s00439-015-1570-5. Epub 2015 May 31. Hum Genet. 2015. PMID: 26026792 Free PMC article. Clinical Trial.
HIF-1α and HIF-2α differently regulate tumour development and inflammation of clear cell renal cell carcinoma in mice.
Hoefflin R, Harlander S, Schäfer S, Metzger P, Kuo F, Schönenberger D, Adlesic M, Peighambari A, Seidel P, Chen CY, Consenza-Contreras M, Jud A, Lahrmann B, Grabe N, Heide D, Uhl FM, Chan TA, Duyster J, Zeiser R, Schell C, Heikenwalder M, Schilling O, Hakimi AA, Boerries M, Frew IJ. Hoefflin R, et al. Among authors: schell c. Nat Commun. 2020 Aug 17;11(1):4111. doi: 10.1038/s41467-020-17873-3. Nat Commun. 2020. PMID: 32807776 Free PMC article.
Exhaustion of CD39-Expressing CD8+ T Cells in Crohn's Disease Is Linked to Clinical Outcome.
Globig AM, Mayer LS, Heeg M, Andrieux G, Ku M, Otto-Mora P, Hipp AV, Zoldan K, Pattekar A, Rana N, Schell C, Boerries M, Hofmann M, Neumann-Haefelin C, Kuellmer A, Schmidt A, Boettler T, Tomov V, Thimme R, Hasselblatt P, Bengsch B. Globig AM, et al. Among authors: schell c. Gastroenterology. 2022 Oct;163(4):965-981.e31. doi: 10.1053/j.gastro.2022.06.045. Epub 2022 Jun 20. Gastroenterology. 2022. PMID: 35738329
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Riedhammer KM, Nguyen TT, Koşukcu C, Calzada-Wack J, Li Y, Assia Batzir N, Saygılı S, Wimmers V, Kim GJ, Chrysanthou M, Bakey Z, Sofrin-Drucker E, Kraiger M, Sanz-Moreno A, Amarie OV, Rathkolb B, Klein-Rodewald T, Garrett L, Hölter SM, Seisenberger C, Haug S, Schlosser P, Marschall S, Wurst W, Fuchs H, Gailus-Durner V, Wuttke M, Hrabe de Angelis M, Ćomić J, Akgün Doğan Ö, Özlük Y, Taşdemir M, Ağbaş A, Canpolat N, Orenstein N, Çalışkan S, Weber RG, Bergmann C, Jeanpierre C, Saunier S, Lim TY, Hildebrandt F, Alhaddad B, Basel-Salmon L, Borovitz Y, Wu K, Antony D, Matschkal J, Schaaf CW, Renders L, Schmaderer C, Rogg M, Schell C, Meitinger T, Heemann U, Köttgen A, Arnold SJ, Ozaltin F, Schmidts M, Hoefele J. Riedhammer KM, et al. Among authors: schell c. Kidney Int. 2024 Apr;105(4):844-864. doi: 10.1016/j.kint.2023.11.032. Epub 2023 Dec 26. Kidney Int. 2024. PMID: 38154558 Free PMC article.
A YAP/TAZ-ARHGAP29-RhoA Signaling Axis Regulates Podocyte Protrusions and Integrin Adhesions.
Rogg M, Maier JI, Helmstädter M, Sammarco A, Kliewe F, Kretz O, Weißer L, Van Wymersch C, Findeisen K, Koessinger AL, Tsoy O, Baumbach J, Grabbert M, Werner M, Huber TB, Endlich N, Schilling O, Schell C. Rogg M, et al. Among authors: schell c. Cells. 2023 Jul 6;12(13):1795. doi: 10.3390/cells12131795. Cells. 2023. PMID: 37443829 Free PMC article.
205 results