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Page 1
Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies.
Buerger F, Merz LM, Saida K, Yu S, Salmanullah D, Lemberg K, Mertens ND, Mansour B, Kolvenbach CM, Yousef K, Hölzel S, Braun A, Franken GAC, Goncalves KA, Steinsapir A, Endlich N, Schneider R, Shril S, Hildebrandt F. Buerger F, et al. Among authors: mertens nd. Am J Physiol Renal Physiol. 2024 May 1;326(5):F780-F791. doi: 10.1152/ajprenal.00412.2023. Epub 2024 Mar 14. Am J Physiol Renal Physiol. 2024. PMID: 38482553
A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract.
Kolvenbach CM, Zheng B, Merz LM, Mertens ND, Mansour B, Wang C, Seltzsam S, Schneider S, Schierbaum L, Pantel D, Chen J, van der Ven AT, Bello JO, Shril S, Hildebrandt F. Kolvenbach CM, et al. Among authors: mertens nd. Am J Med Genet A. 2023 May;191(5):1355-1359. doi: 10.1002/ajmg.a.63127. Epub 2023 Jan 24. Am J Med Genet A. 2023. PMID: 36694287 Free PMC article.
Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.
Pantel D, Mertens ND, Schneider R, Hölzel S, Kari JA, Desoky SE, Shalaby MA, Lim TY, Sanna-Cherchi S, Shril S, Hildebrandt F. Pantel D, et al. Among authors: mertens nd. Pediatr Nephrol. 2024 Feb;39(2):455-461. doi: 10.1007/s00467-023-06134-2. Epub 2023 Sep 5. Pediatr Nephrol. 2024. PMID: 37670083 Free PMC article.
Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type.
Lemberg K, Mertens ND, Yousef K, Schneider R, Merz LM, Mansour B, Salmanullah D, Kolvenbach CM, Saida K, Yu S, Hölzel S, Steinsapir A, Goncalves KA, Nicolas Frank C, Franken GAC, Shril S, Buerger F, Hildebrandt F. Lemberg K, et al. Among authors: mertens nd. Sci Rep. 2024 Jul 10;14(1):15916. doi: 10.1038/s41598-024-64883-y. Sci Rep. 2024. PMID: 38987283 Free PMC article.
Phenotypic quantification of Nphs1-deficient mice.
Schneider R, Mansour B, Kolvenbach CM, Buerger F, Salmanullah D, Lemberg K, Merz LM, Mertens ND, Saida K, Yousef K, Franken GAC, Bao A, Yu S, Hölzel S, Nicolas-Frank C, Steinsapir A, Goncalves KA, Shril S, Hildebrandt F. Schneider R, et al. Among authors: mertens nd. J Nephrol. 2024 Jul 14. doi: 10.1007/s40620-024-01987-8. Online ahead of print. J Nephrol. 2024. PMID: 39003671
Correction to: Phenotypic quantification of Nphs1‑deficient mice.
Schneider R, Mansour B, Kolvenbach CM, Buerger F, Salmanullah D, Lemberg K, Merz LM, Mertens ND, Saida K, Yousef K, Franken GAC, Bao A, Yu S, Hölzel S, Nicolas-Frank C, Steinsapir A, Goncalves KA, Shril S, Hildebrandt F. Schneider R, et al. Among authors: mertens nd. J Nephrol. 2024 Jul;37(6):1723. doi: 10.1007/s40620-024-02060-0. J Nephrol. 2024. PMID: 39115675 No abstract available.
Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.
Schneider R, Shril S, Buerger F, Deutsch K, Yousef K, Frank CN, Onuchic-Whitford AC, Kitzler TM, Mao Y, Klämbt V, Zahoor MY, Lemberg K, Majmundar AJ, Mansour B, Saida K, Seltzsam S, Kolvenbach CM, Merz LM, Mertens ND, Hermle T, Mann N, Pantel D, Halawi AA, Bao A, Schierbaum L, Schneider S, Salmanullah D, Ben-Dov IZ, Sagiv I, Eid LA, Awad HSH, Al Saffar M, Soliman NA, Nabhan MM, Kari JA, El Desoky S, Shalaby MA, Ooda S, Fathy HM, Mane S, Lifton RP, Somers MJG, Hildebrandt F. Schneider R, et al. Among authors: mertens nd. Genes Dis. 2024 Mar 28;12(2):101280. doi: 10.1016/j.gendis.2024.101280. eCollection 2025 Mar. Genes Dis. 2024. PMID: 39584075 Free PMC article. No abstract available.
Disruption of the Rab7-Dependent Final Common Pathway of Endosomal and Autophagic Processing Results in a Severe Podocytopathy.
Vöing K, Michgehl U, Mertens ND, Picciotto C, Maywald ML, Goretzko J, Waimann S, Gilhaus K, Rogg M, Schell C, Klingauf J, Tsytsyura Y, Hansen U, van Marck V, Edinger AL, Vollenbröker B, Rescher U, Braun DA, George B, Weide T, Pavenstädt H. Vöing K, et al. Among authors: mertens nd. J Am Soc Nephrol. 2023 Jul 1;34(7):1191-1206. doi: 10.1681/ASN.0000000000000126. Epub 2023 Apr 5. J Am Soc Nephrol. 2023. PMID: 37022133 Free PMC article.