Pesquisa | Biblioteca Virtual em Saúde

1.

Loss of Anks6 leads to YAP deficiency and liver abnormalities.

Airik, Merlin; Schüler, Markus; McCourt, Blake; Weiss, Anna-Carina; Herdman, Nathan; Lüdtke, Timo H; Widmeier, Eugen; Stolz, Donna B; Nejak-Bowen, Kari N; Yimlamai, Dean; Wu, Yijen L; Kispert, Andreas; Airik, Rannar; Hildebrandt, Friedhelm.

Hum Mol Genet; 2020 Sep 04.

Artigo em Inglês | MEDLINE | ID: mdl-32886109

2.

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.

Choi, Yo Jun; Halbritter, Jan; Braun, Daniela A; Schueler, Markus; Schapiro, David; Rim, John Hoon; Nandadasa, Sumeda; Choi, Won-Il; Widmeier, Eugen; Shril, Shirlee; Körber, Friederike; Sethi, Sidharth K; Lifton, Richard P; Beck, Bodo B; Apte, Suneel S; Gee, Heon Yung; Hildebrandt, Friedhelm.

Am J Hum Genet; 104(1): 45-54, 2019 01 03.

Artigo em Inglês | MEDLINE | ID: mdl-30609407

3.

DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.

Marquez, Jonathan; Mann, Nina; Arana, Kathya; Deniz, Engin; Ji, Weizhen; Konstantino, Monica; Mis, Emily K; Deshpande, Charu; Jeffries, Lauren; McGlynn, Julie; Hugo, Hannah; Widmeier, Eugen; Konrad, Martin; Tasic, Velibor; Morotti, Raffaella; Baptista, Julia; Ellard, Sian; Lakhani, Saquib Ali; Hildebrandt, Friedhelm; Khokha, Mustafa K.

J Med Genet; 2020 Jul 06.

Artigo em Inglês | MEDLINE | ID: mdl-32631816

4.

ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment.

Widmeier, Eugen; Yu, Seyoung; Nag, Anish; Chung, Youn Wook; Nakayama, Makiko; Fernández-Del-Río, Lucía; Hugo, Hannah; Schapiro, David; Buerger, Florian; Choi, Won-Il; Helmstädter, Martin; Kim, Jae-Woo; Ryu, Ji-Hwan; Lee, Min Goo; Clarke, Catherine F; Hildebrandt, Friedhelm; Gee, Heon Yung.

J Am Soc Nephrol; 31(6): 1191-1211, 2020 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-32381600

5.

Treatment with 2,4-Dihydroxybenzoic Acid Prevents FSGS Progression and Renal Fibrosis in Podocyte-Specific Coq6 Knockout Mice.

Widmeier, Eugen; Airik, Merlin; Hugo, Hannah; Schapiro, David; Wedel, Johannes; Ghosh, Chandra C; Nakayama, Makiko; Schneider, Ronen; Awad, Agape M; Nag, Anish; Cho, Jang; Schueler, Markus; Clarke, Catherine F; Airik, Rannar; Hildebrandt, Friedhelm.

J Am Soc Nephrol; 2019 Feb 08.

Artigo em Inglês | MEDLINE | ID: mdl-30737270

6.

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.

Mann, Nina; Braun, Daniela A; Amann, Kassaundra; Tan, Weizhen; Shril, Shirlee; Connaughton, Dervla M; Nakayama, Makiko; Schneider, Ronen; Kitzler, Thomas M; van der Ven, Amelie T; Chen, Jing; Ityel, Hadas; Vivante, Asaf; Majmundar, Amar J; Daga, Ankana; Warejko, Jillian K; Lovric, Svjetlana; Ashraf, Shazia; Jobst-Schwan, Tilman; Widmeier, Eugen; Hugo, Hannah; Mane, Shrikant M; Spaneas, Leslie; Somers, Michael J G; Ferguson, Michael A; Traum, Avram Z; Stein, Deborah R; Baum, Michelle A; Daouk, Ghaleb H; Lifton, Richard P; Manzi, Shannon; Vakili, Khashayar; Kim, Heung Bae; Rodig, Nancy M; Hildebrandt, Friedhelm.

J Am Soc Nephrol; 30(2): 201-215, 2019 02.

Artigo em Inglês | MEDLINE | ID: mdl-30655312

7.

Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout.

Jobst-Schwan, Tilman; Hoogstraten, Charlotte A; Kolvenbach, Caroline M; Schmidt, Johanna Magdalena; Kolb, Amy; Eddy, Kaitlyn; Schneider, Ronen; Ashraf, Shazia; Widmeier, Eugen; Majmundar, Amar J; Hildebrandt, Friedhelm.

Kidney Int; 95(5): 1079-1090, 2019 05.

Artigo em Inglês | MEDLINE | ID: mdl-31010479

8.

Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.

Solanki, Ashish K; Widmeier, Eugen; Arif, Ehtesham; Sharma, Shailza; Daga, Ankana; Srivastava, Pankaj; Kwon, Sang-Ho; Hugo, Hannah; Nakayama, Makiko; Mann, Nina; Majmundar, Amar J; Tan, Wei; Gee, Heon Yung; Sadowski, Caroline E; Rinat, Choni; Becker-Cohen, Rachel; Bergmann, Carsten; Rosen, Seymour; Somers, Michael; Shril, Shirlee; Huber, Tobias B; Mane, Shrikant; Hildebrandt, Friedhelm; Nihalani, Deepak.

Kidney Int; 96(4): 883-889, 2019 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-31472902

9.

Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.

Braun, Daniela A; Warejko, Jillian K; Ashraf, Shazia; Tan, Weizhen; Daga, Ankana; Schneider, Ronen; Hermle, Tobias; Jobst-Schwan, Tilman; Widmeier, Eugen; Majmundar, Amar J; Nakayama, Makiko; Schapiro, David; Rao, Jia; Schmidt, Johanna Magdalena; Hoogstraten, Charlotte A; Hugo, Hannah; Bakkaloglu, Sevcan A; Kari, Jameela A; El Desoky, Sherif; Daouk, Ghaleb; Mane, Shrikant; Lifton, Richard P; Shril, Shirlee; Hildebrandt, Friedhelm.

Nephrol Dial Transplant; 34(3): 485-493, 2019 03 01.

Artigo em Inglês | MEDLINE | ID: mdl-29534211

10.

Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.

Schapiro, David; Daga, Ankana; Lawson, Jennifer A; Majmundar, Amar J; Lovric, Svjetlana; Tan, Weizhen; Warejko, Jillian K; Fessi, Inés; Rao, Jia; Airik, Merlin; Gee, Heon Yung; Schneider, Ronen; Widmeier, Eugen; Hermle, Tobias; Ashraf, Shazia; Jobst-Schwan, Tilman; van der Ven, Amelie T; Nakayama, Makiko; Shril, Shirlee; Braun, Daniela A; Hildebrandt, Friedhelm.

Nephrol Dial Transplant; 34(3): 474-485, 2019 03 01.

Artigo em Inglês | MEDLINE | ID: mdl-30295827

11.

GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.

Hermle, Tobias; Schneider, Ronen; Schapiro, David; Braun, Daniela A; van der Ven, Amelie T; Warejko, Jillian K; Daga, Ankana; Widmeier, Eugen; Nakayama, Makiko; Jobst-Schwan, Tilman; Majmundar, Amar J; Ashraf, Shazia; Rao, Jia; Finn, Laura S; Tasic, Velibor; Hernandez, Joel D; Bagga, Arvind; Jalalah, Sawsan M; El Desoky, Sherif; Kari, Jameela A; Laricchia, Kristen M; Lek, Monkol; Rehm, Heidi L; MacArthur, Daniel G; Mane, Shrikant; Lifton, Richard P; Shril, Shirlee; Hildebrandt, Friedhelm.

J Am Soc Nephrol; 29(8): 2123-2138, 2018 08.

Artigo em Inglês | MEDLINE | ID: mdl-29959197

12.

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

van der Ven, Amelie T; Connaughton, Dervla M; Ityel, Hadas; Mann, Nina; Nakayama, Makiko; Chen, Jing; Vivante, Asaf; Hwang, Daw-Yang; Schulz, Julian; Braun, Daniela A; Schmidt, Johanna Magdalena; Schapiro, David; Schneider, Ronen; Warejko, Jillian K; Daga, Ankana; Majmundar, Amar J; Tan, Weizhen; Jobst-Schwan, Tilman; Hermle, Tobias; Widmeier, Eugen; Ashraf, Shazia; Amar, Ali; Hoogstraaten, Charlotte A; Hugo, Hannah; Kitzler, Thomas M; Kause, Franziska; Kolvenbach, Caroline M; Dai, Rufeng; Spaneas, Leslie; Amann, Kassaundra; Stein, Deborah R; Baum, Michelle A; Somers, Michael J G; Rodig, Nancy M; Ferguson, Michael A; Traum, Avram Z; Daouk, Ghaleb H; Bogdanovic, Radovan; Stajic, Natasa; Soliman, Neveen A; Kari, Jameela A; El Desoky, Sherif; Fathy, Hanan M; Milosevic, Danko; Al-Saffar, Muna; Awad, Hazem S; Eid, Loai A; Selvin, Aravind; Senguttuvan, Prabha; Sanna-Cherchi, Simone.

J Am Soc Nephrol; 29(9): 2348-2361, 2018 09.

Artigo em Inglês | MEDLINE | ID: mdl-30143558

13.

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

Daga, Ankana; Majmundar, Amar J; Braun, Daniela A; Gee, Heon Yung; Lawson, Jennifer A; Shril, Shirlee; Jobst-Schwan, Tilman; Vivante, Asaf; Schapiro, David; Tan, Weizhen; Warejko, Jillian K; Widmeier, Eugen; Nelson, Caleb P; Fathy, Hanan M; Gucev, Zoran; Soliman, Neveen A; Hashmi, Seema; Halbritter, Jan; Halty, Margarita; Kari, Jameela A; El-Desoky, Sherif; Ferguson, Michael A; Somers, Michael J G; Traum, Avram Z; Stein, Deborah R; Daouk, Ghaleb H; Rodig, Nancy M; Katz, Avi; Hanna, Christian; Schwaderer, Andrew L; Sayer, John A; Wassner, Ari J; Mane, Shrikant; Lifton, Richard P; Milosevic, Danko; Tasic, Velibor; Baum, Michelle A; Hildebrandt, Friedhelm.

Kidney Int; 93(1): 204-213, 2018 01.

Artigo em Inglês | MEDLINE | ID: mdl-28893421

14.

Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.

Braun, Daniela A; Shril, Shirlee; Sinha, Aditi; Schneider, Ronen; Tan, Weizhen; Ashraf, Shazia; Hermle, Tobias; Jobst-Schwan, Tilman; Widmeier, Eugen; Majmundar, Amar J; Daga, Ankana; Warejko, Jillian K; Nakayama, Makiko; Schapiro, David; Chen, Jing; Airik, Merlin; Rao, Jia; Schmidt, Johanna Magdalena; Hoogstraten, Charlotte A; Hugo, Hannah; Meena, Jitendra; Lek, Monkol; Laricchia, Kristen M; Bagga, Arvind; Hildebrandt, Friedhelm.

Am J Med Genet A; 176(11): 2460-2465, 2018 11.

Artigo em Inglês | MEDLINE | ID: mdl-30079490

15.

Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.

Tan, Weizhen; Lovric, Svjetlana; Ashraf, Shazia; Rao, Jia; Schapiro, David; Airik, Merlin; Shril, Shirlee; Gee, Heon Yung; Baum, Michelle; Daouk, Ghaleb; Ferguson, Michael A; Rodig, Nancy; Somers, Michael J G; Stein, Deborah R; Vivante, Asaf; Warejko, Jillian K; Widmeier, Eugen; Hildebrandt, Friedhelm.

Pediatr Nephrol; 33(2): 305-314, 2018 02.

Artigo em Inglês | MEDLINE | ID: mdl-28921387

16.

A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.

Vivante, Asaf; Mann, Nina; Yonath, Hagith; Weiss, Anna-Carina; Getwan, Maike; Kaminski, Michael M; Bohnenpoll, Tobias; Teyssier, Catherine; Chen, Jing; Shril, Shirlee; van der Ven, Amelie T; Ityel, Hadas; Schmidt, Johanna Magdalena; Widmeier, Eugen; Bauer, Stuart B; Sanna-Cherchi, Simone; Gharavi, Ali G; Lu, Weining; Magen, Daniella; Shukrun, Rachel; Lifton, Richard P; Tasic, Velibor; Stanescu, Horia C; Cavaillès, Vincent; Kleta, Robert; Anikster, Yair; Dekel, Benjamin; Kispert, Andreas; Lienkamp, Soeren S; Hildebrandt, Friedhelm.

J Am Soc Nephrol; 28(8): 2364-2376, 2017 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-28381549

17.

A small molecule screening to detect potential therapeutic targets in human podocytes.

Widmeier, Eugen; Tan, Weizhen; Airik, Merlin; Hildebrandt, Friedhelm.

Am J Physiol Renal Physiol; 312(1): F157-F171, 2017 01 01.

Artigo em Inglês | MEDLINE | ID: mdl-27760769

18.

aPKCλ/Î¹ and aPKCÎ¶ contribute to podocyte differentiation and glomerular maturation.

Hartleben, Björn; Widmeier, Eugen; Suhm, Martina; Worthmann, Kirstin; Schell, Christoph; Helmstädter, Martin; Wiech, Thorsten; Walz, Gerd; Leitges, Michael; Schiffer, Mario; Huber, Tobias B.

J Am Soc Nephrol; 24(2): 253-67, 2013 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-23334392

19.

Recuperation of severe tumoral calcinosis in a dialysis patient: A case report.

Westermann, Lukas; Isbell, Lisa K; Breitenfeldt, Marie K; Arnold, Frederic; Röthele, Elvira; Schneider, Johanna; Widmeier, Eugen.

World J Clin Cases; 7(23): 4004-4010, 2019 Dec 06.

Artigo em Inglês | MEDLINE | ID: mdl-31832402

20.

A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.

van der Ven, Amelie T; Kobbe, Birgit; Kohl, Stefan; Shril, Shirlee; Pogoda, Hans-Martin; Imhof, Thomas; Ityel, Hadas; Vivante, Asaf; Chen, Jing; Hwang, Daw-Yang; Connaughton, Dervla M; Mann, Nina; Widmeier, Eugen; Taglienti, Mary; Schmidt, Johanna Magdalena; Nakayama, Makiko; Senguttuvan, Prabha; Kumar, Selvin; Tasic, Velibor; Kehinde, Elijah O; Mane, Shrikant M; Lifton, Richard P; Soliman, Neveen; Lu, Weining; Bauer, Stuart B; Hammerschmidt, Matthias; Wagener, Raimund; Hildebrandt, Friedhelm.

PLoS One; 13(1): e0191224, 2018.

Artigo em Inglês | MEDLINE | ID: mdl-29351342

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