Daniela A Braun

Daniela A Braun

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Daniela A Braun

Daniela A Braun

Publications by authors named "Daniela A Braun"

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The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development.

J Biol Chem 2018 09 15;293(39):15243-15255. Epub 2018 Aug 15.

From the Department of Medicine, Renal Division, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany,

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http://www.jbc.org/lookup/doi/10.1074/jbc.RA117.000847
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http://dx.doi.org/10.1074/jbc.RA117.000847DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6166740PMC
September 2018

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

J Am Soc Nephrol 2018 09 24;29(9):2348-2361. Epub 2018 Aug 24.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts;

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http://www.jasn.org/lookup/doi/10.1681/ASN.2017121265
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http://dx.doi.org/10.1681/ASN.2017121265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6115658PMC
September 2018

A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes.

Cell Rep 2018 05;23(8):2495-2508

III. Department of Medicine, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Department of Medicine IV, Medical Center and Faculty of Medicine, University of Freiburg, 79110 Freiburg, Germany; Freiburg Institute for Advanced Studies (FRIAS), University of Freiburg, 79104 Freiburg, Germany; Center for Systems Biology (ZBSA), Albert Ludwigs University, 79104 Freiburg, Germany; BIOSS Centre for Biological Signaling Studies, Albert Ludwigs University Freiburg, 79104 Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2018.04.059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986710PMC
May 2018

Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.

Hypertension 2018 04 26;71(4):691-699. Epub 2018 Feb 26.

From the Department of Medicine (J.K.W., M.S., A.V., W.T., A.D., J.A.L., D.A.B., S.S., K.A., M.J.G.S., N.M.R., M.A.B., G.D., A.Z.T., D.R.S., M.A.F., F.H.), Department of Surgery (H.B.K., K.V.), Department of Cardiology (D.P., J.L., L.B.S., M.N.S.), Department of Neurology (M.J.R.), Department of Radiology (G.C.), and Department of Neurosurgery (E.R.S.), Boston Children's Hospital, Harvard Medical School, MA; Department of Pediatrics, Yale-New Haven Children's Hospital (J.K.W.) and Department of Genetics (S.M.M., R.P.L.), Yale School of Medicine, CT; Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel (A.V.); and Laboratory of Human Genetics and Genomics, The Rockefeller University, New York (R.P.L.).

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https://www.ahajournals.org/doi/10.1161/HYPERTENSIONAHA.117.
Publisher Site
http://dx.doi.org/10.1161/HYPERTENSIONAHA.117.10296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843550PMC
April 2018

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.

Am J Med Genet A 2017 Oct 17;173(10):2697-2702. Epub 2017 Aug 17.

Department of Pediatrics, Centre of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt.

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http://doi.wiley.com/10.1002/ajmg.a.38393
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http://dx.doi.org/10.1002/ajmg.a.38393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205885PMC
October 2017

Modeling Monogenic Human Nephrotic Syndrome in the Garland Cell Nephrocyte.

J Am Soc Nephrol 2017 May 8;28(5):1521-1533. Epub 2016 Dec 8.

Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts;

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http://dx.doi.org/10.1681/ASN.2016050517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5407722PMC
May 2017

Ciliopathies.

Cold Spring Harb Perspect Biol 2017 Mar 1;9(3). Epub 2017 Mar 1.

Division of Nephrology, Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts 02115.

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http://dx.doi.org/10.1101/cshperspect.a028191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5334254PMC
March 2017

Mutations in SLC26A1 Cause Nephrolithiasis.

Am J Hum Genet 2016 06 19;98(6):1228-1234. Epub 2016 May 19.

Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.03.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908148PMC
June 2016

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

J Med Genet 2016 Mar 16;53(3):208-14. Epub 2015 Dec 16.

Divison of Nephology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5057575PMC
http://dx.doi.org/10.1136/jmedgenet-2015-103304DOI Listing
March 2016

The Vac14-interaction network is linked to regulators of the endolysosomal and autophagic pathway.

Mol Cell Proteomics 2014 Jun 27;13(6):1397-411. Epub 2014 Feb 27.

From the ‡Department of Internal Medicine D, Molecular Nephrology, University Hospital of Muenster, Albert-Schweitzer Campus 1, A14, D-48149 Muenster, Germany;

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http://dx.doi.org/10.1074/mcp.M113.034108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4047462PMC
June 2014

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

Hum Genet 2013 Aug 5;132(8):865-84. Epub 2013 Apr 5.

Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, Ann Arbor, MI 48109-5646, USA.

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http://dx.doi.org/10.1007/s00439-013-1297-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4643834PMC
August 2013