NinaMannMD

PubMed

• De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
  Patricia L. Weng, Amar J. Majmundar, Kamal Khan, Tze Y. Lim, Shirlee Shril, Gina Y. Jin, John Musgrove, Minxian Wang, Dina Ahram, Vimla Aggarwal, Louise Bier, Erin L. ...> ;American Journal of Human Genetics. 2021 Jan 27
• Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans.
  Verena Klämbt, Max Werth, Ana C. Onuchic-Whitford, Maike Getwan, Thomas M. Kitzler, Florian Buerger, Youying Mao, Konstantin Deutsch, Nina Mann, Amar J. Majmundar, Mic...> ;Nephrology Dialysis Transplantation. 2021 Jan 25
• A hemodialysis patient with difficulty ambulating: Answers.
  Nina Mann, Annemarie Fayemi, Melissa Myles, Nicole Kelley, Brian Carmine, Camilla A. Richmond, Avram Z. Traum> ;Pediatric Nephrology. 2021 Jan 20
• A hemodialysis patient with difficulty ambulating: Questions.
  Nina Mann, Annemarie Fayemi, Melissa Myles, Nicole Kelley, Brian Carmine, Camilla A. Richmond, Avram Z. Traum> ;Pediatric Nephrology. 2021 Jan 20
• 1 citations
  Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.
  Amar J. Majmundar, Florian Buerger, Thomas A. Forbes, Verena Klämbt, Ronen Schneider, Konstantin Deutsch, Thomas M. Kitzler, Sara E. Howden, Michelle Scurr, Ker Sin Ta...> ;Science Advances. 2021 Jan 1
• 1 citations
  DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
  Ronen Schneider, Konstantin Deutsch, Gregory J. Hoeprich, Jonathan Marquez, Tobias Hermle, Daniela A. Braun, Steve Seltzsam, Thomas M. Kitzler, Youying Mao, Florian Bu...> ;American Journal of Human Genetics. 2020 Dec 3
• Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
  Dervla M. Connaughton, Rufeng Dai, Danielle J. Owen, Jonathan Marquez, Nina Mann, Adda L. Graham-Paquin, Makiko Nakayama, Etienne Coyaud, Estelle M.N. Laurent, Jonatha...> ;American Journal of Human Genetics. 2020 Oct 1
• DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.
  Jonathan Marquez, Nina Mann, Kathya Arana, Engin Deniz, Weizhen Ji, Monica Konstantino, Emily K. Mis, Charu Deshpande, Lauren Jeffries, Julie A. McGlynn, Hannah Hugo, ...> ;Journal of Medical Genetics. 2020 Jul 6
• 3 citations
  Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).
  Chen-Han Wilfred Wu, Nina Mann, Makiko Nakayama, Dervla M. Connaughton, Rufeng Dai, Caroline M. Kolvenbach, Franziska Kause, Isabel Ottlewski, Chunyan Wang, Verena Klä...> ;Genetics in Medicine. 2020 Jun 1
• 1 citations
  CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations
  Nina Mann, Franziska Kause, Erik Henze, Anant Gharpure, Shirlee Shril, Dervla M. Connaughton, Makiko Nakayama, Verena Klämbt, Amar J. Majmundar, Chen Han W. Wu, Caroli...> ;American Journal of Human Genetics. 2019 Dec 5
• 3 citations
  Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome
  Ashish K. Solanki, Eugen Widmeier, Ehtesham Arif, Shailza Sharma, Ankana Daga, Pankaj Srivastava, Sang Ho Kwon, Hannah Hugo, Makiko Nakayama, Nina Mann, Amar J. Majmun...> ;Kidney International. 2019 Oct 1
• 3 citations
  COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
  Thomas M. Kitzler, Ronen Schneider, Stefan Kohl, Caroline M. Kolvenbach, Dervla M. Connaughton, Rufeng Dai, Nina Mann, Makiko Nakayama, Amar J. Majmundar, Chen-Han W W...> ;Human Genetics. 2019 Jun 22
• 30 citations
  Monogenic causes of chronic kidney disease in adults.
  Dervla M. Connaughton, Claire Kennedy, Shirlee Shril, Nina Mann, Susan L. Murray, Patrick Williams, Eoin Conlon, Makiko Nakayama, Amelie T. van der Ven, Hadas Ityel, F...> ;Kidney International. 2019 Apr 1
• 23 citations
  Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
  Nina Mann, Daniela A. Braun, Kassaundra Amann, Weizhen Tan, Shirlee Shril, Dervla M. Connaughton, Makiko Nakayama, Ronen Schneider, Thomas M. Kitzler, Amelie T. van de...> ;Journal of The American Society of Nephrology. 2019 Feb 1
• 37 citations
  Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
  Amelie T. van der Ven, Dervla M. Connaughton, Hadas Ityel, Nina Mann, Makiko Nakayama, Jing Chen, Asaf Vivante, Daw-Yang Hwang, Julian Schulz, Daniela A. Braun, Johann...> ;Journal of The American Society of Nephrology. 2018 Sep 1
• A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.
  Amelie T. van der Ven, Birgit Kobbe, Stefan Kohl, Shirlee Shril, Hans-Martin Pogoda, Thomas Imhof, Hadas Ityel, Asaf Vivante, Jing Chen, Daw-Yang Hwang, Dervla M. Conn...> ;PLOS ONE. 2018 Jan 19
• 9 citations
  Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
  Asaf Vivante, Hadas Ityel, Ben Pode-Shakked, Jing Chen, Shirlee Shril, Amelie T. van der Ven, Nina Mann, Johanna Magdalena Schmidt, Reeval Segel, Adi Aran, Avraham Zeh...> ;Pediatric Nephrology. 2017 Aug 5
• 17 citations
  A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.
  Asaf Vivante, Nina Mann, Hagith Yonath, Anna Carina Weiss, Maike Getwan, Michael M. Kaminski, Tobias Bohnenpoll, Catherine Teyssier, Jing Chen, Shirlee Shril, Amelie T...> ;Journal of The American Society of Nephrology. 2017 Aug 1
• 23 citations
  CITED4 induces physiologic hypertrophy and promotes functional recovery after ischemic injury
  Vassilios J. Bezzerides, Colin Platt, Carolin Lerchenmüller, Kaavya Paruchuri, Nul Loren Oh, Chunyang Xiao, Yunshan Cao, Nina Mann, Bruce M. Spiegelman, Anthony Rosenz...> ;JCI insight. 2016 Jun 16
• 5 citations
  Relationship between Exercise Parameters and Noninvasive Indices of Right Ventricular Function in Patients with Biventricular Circulation and Systemic Right Ventricle.
  Keri M. Shafer, Nina Mann, Rebecca Hehn, Ana Ubeda Tikkanen, Anne Marie Valente, Tal Geva, Naomi Gauthier, Jonathan Rhodes> ;Congenital Heart Disease. 2015 Sep 1
• 45 citations
  Can Exercise Teach Us How to Treat Heart Disease
  Nina Mann, Anthony Rosenzweig> ;Circulation. 2012 Nov 27
• 179 citations
  C/EBPβ controls exercise-induced cardiac growth and protects against pathological cardiac remodeling
  Pontus Boström, Nina Mann, Jun Wu, Pablo A. Quintero, Eva Plovie, Daniela Panáková, Rana K. Gupta, Chunyang Xiao, Calum A. MacRae, Anthony Rosenzweig, Bruce M. Spiegelman> ;Cell. 2010 Dec 23
• 327 citations
  Precise engineering of targeted nanoparticles by using self-assembled biointegrated block copolymers.
  Frank X. Gu, Liangfang Zhang, Benjamin A. Teply, Nina Mann, Andrew Z. Wang, Aleksandar F. Radovic-Moreno, Robert Langer, Omid C. Farokhzad> ;Proceedings of the National Academy of Sciences of the United States of America. 2008 Feb 19
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