C
Carolin E. Sadowski
Researcher at Boston Children's Hospital
Publications - 14
Citations - 1788
Carolin E. Sadowski is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Nephrotic syndrome & Mutation. The author has an hindex of 14, co-authored 14 publications receiving 1355 citations. Previous affiliations of Carolin E. Sadowski include Harvard University & Dresden University of Technology.
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Journal ArticleDOI
A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome
Carolin E. Sadowski,Svjetlana Lovric,Shazia Ashraf,Werner L. Pabst,Heon Yung Gee,Stefan Kohl,Susanne Engelmann,Virginia Vega-Warner,Humphrey Fang,Jan Halbritter,Michael J. Somers,Weizhen Tan,Shirlee Shril,Inés Fessi,Richard P. Lifton,Detlef Bockenhauer,Sherif M. El-Desoky,Jameela A. Kari,Martin Zenker,Markus J. Kemper,Dominik N Mueller,Hanan M. Fathy,Neveen A. Soliman,Friedhelm Hildebrandt,Friedhelm Hildebrandt +24 more
TL;DR: The study results should facilitate molecular genetic diagnostics of SRNS, etiologic classification for therapeutic studies, generation of genotype-phenotype correlations, and the identification of individuals in whom a targeted treatment for SRNS may be available.
Journal ArticleDOI
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome
Jillian K. Warejko,Weizhen Tan,Ankana Daga,David Schapiro,Jennifer A. Lawson,Shirlee Shril,Svjetlana Lovric,Shazia Ashraf,Jia Rao,Tobias Hermle,Tilman Jobst-Schwan,Eugen Widmeier,Amar J. Majmundar,Ronen Schneider,Heon Yung Gee,J. Magdalena Schmidt,Asaf Vivante,Amelie T. van der Ven,Hadas Ityel,Jing Chen,Carolin E. Sadowski,Stefan Kohl,Werner L. Pabst,Makiko Nakayama,Michael J. Somers,Nancy Rodig,Ghaleb Daouk,Michelle A. Baum,Deborah R. Stein,Michael A. J. Ferguson,Avram Z. Traum,Neveen A. Soliman,Jameela A. Kari,Sherif El Desoky,Hanan M. Fathy,Martin Zenker,Sevcan A. Bakkaloglu,Dominik N. Müller,Aytül Noyan,Fatih Ozaltin,Melissa A. Cadnapaphornchai,Seema Hashmi,Jeffrey Hopcian,Jeffrey B. Kopp,Nadine Benador,Detlef Bockenhauer,Radovan Bogdanovic,Natasa Stajic,Gil Chernin,Robert B. Ettenger,Henry Fehrenbach,Markus J. Kemper,Reyner Loza Munarriz,Ludmila Podracka,Rainer Büscher,Erkin Serdaroglu,Velibor Tasic,Shrikant Mane,Richard P. Lifton,Daniela A. Braun,Friedhelm Hildebrandt +60 more
TL;DR: W whole exome sequencing is a sensitive approach toward diagnosis of monogenic causes of steroid-resistant nephrotic syndrome.
Journal ArticleDOI
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome
Heon Yung Gee,Fujian Zhang,Fujian Zhang,Shazia Ashraf,Stefan Kohl,Carolin E. Sadowski,Virginia Vega-Warner,Weibin Zhou,Svjetlana Lovric,Humphrey Fang,Margaret Nettleton,Jun-yi Zhu,Julia Hoefele,Lutz T. Weber,Ludmila Podracka,A. Boor,Henry Fehrenbach,Jeffrey W. Innis,Joseph Washburn,Shawn Levy,Richard P. Lifton,Richard P. Lifton,Edgar A. Otto,Zhe Han,Friedhelm Hildebrandt +24 more
TL;DR: Using homozygosity mapping and whole-exome sequencing, recessive mutations in kidney ankyrin repeat-containing protein 1 (KANK1), KANK2, and KANK4 in individuals with nephrotic syndrome are identified and suggest that KANK family genes play evolutionarily conserved roles in podocyte function, likely through regulating RHO GTPase signaling.
Journal ArticleDOI
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Daniela A. Braun,Jia Rao,Géraldine Mollet,Géraldine Mollet,David Schapiro,Marie Claire Daugeron,Weizhen Tan,Olivier Gribouval,Olivier Gribouval,Olivia Boyer,Olivia Boyer,Patrick Revy,Patrick Revy,Tilman Jobst-Schwan,Johanna Magdalena Schmidt,Jennifer A. Lawson,Denny Schanze,Shazia Ashraf,Jeremy F.P. Ullmann,Charlotte A. Hoogstraten,Nathalie Boddaert,Nathalie Boddaert,Bruno Collinet,Bruno Collinet,Gaëlle H. Martin,Gaëlle H. Martin,Dominique Liger,Svjetlana Lovric,Mónica Furlano,Mónica Furlano,Mónica Furlano,I. Chiara Guerrera,Oraly Sanchez-Ferras,Jennifer Hu,Anne Claire Boschat,Sylvia Sanquer,Björn Menten,Sarah Vergult,Nina De Rocker,Merlin Airik,Tobias Hermle,Shirlee Shril,Eugen Widmeier,Eugen Widmeier,Heon Yung Gee,Heon Yung Gee,Won-Il Choi,Carolin E. Sadowski,Werner L. Pabst,Jillian K. Warejko,Ankana Daga,Tamara Basta,Verena Matejas,Karin Scharmann,Karin Scharmann,Sandra D. Kienast,Sandra D. Kienast,Babak Behnam,Babak Behnam,Brendan Beeson,Amber Begtrup,Malcolm Bruce,Gaik Siew Ch’ng,Shuan-Pei Lin,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 O. Littlejohn,Amira Masri,Mastaneh Moghtaderi,Kazuyuki Nakamura,Fatih Ozaltin,Marleen Praet,Chitra Prasad,Agnieszka Prytuła,Elizabeth 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,Jeng Daw Tsai,Jeng Daw Tsai,Rezan Topaloglu,Udo Vester,David Viskochil,Nithiwat Vatanavicharn,Jessica L. Waxler,Klaas J. Wierenga,Matthias T.F. Wolf,Sik Nin Wong,Sebastian A. Leidel,Sebastian A. Leidel,Gessica Truglio,Peter C. Dedon,Peter C. Dedon,Annapurna Poduri,Shrikant Mane,Richard P. Lifton,Richard P. Lifton,Maxime Bouchard,Peter Kannu,David Chitayat,Daniella Magen,Bert Callewaert,Herman van Tilbeurgh,Martin Zenker,Corinne Antignac,Corinne Antignac,Friedhelm Hildebrandt +122 more
TL;DR: Four new monogenic causes of GAMOS are identified, a link between KEOPS function and human disease is described, and potential pathogenic mechanisms are delineated.
Journal ArticleDOI
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
Svjetlana Lovric,Sara Gonçalves,Sara Gonçalves,Heon Yung Gee,Babak Oskouian,Honnappa Srinivas,Won-Il Choi,Shirlee Shril,Shazia Ashraf,Weizhen Tan,Jia Rao,Merlin Airik,David Schapiro,Daniela A. Braun,Carolin E. Sadowski,Eugen Widmeier,Eugen Widmeier,Tilman Jobst-Schwan,Johanna Magdalena Schmidt,Vladimir Girik,Guido Capitani,Jung H. Suh,Noelle Lachaussée,Noelle Lachaussée,Christelle Arrondel,Christelle Arrondel,Julie Patat,Julie Patat,Olivier Gribouval,Olivier Gribouval,Monica Furlano,Monica Furlano,Monica Furlano,Olivia Boyer,Olivia Boyer,Alain Schmitt,Alain Schmitt,Vincent Vuiblet,Seema Hashmi,Rainer Wilcken,Francois P. Bernier,A. Micheil Innes,Jillian S. Parboosingh,Ryan E. Lamont,Julian P. Midgley,Nicola A.M. Wright,Jacek Majewski,Martin Zenker,Franz Schaefer,Navina Kuss,Johann Greil,Thomas Giese,Klaus Schwarz,Vilain Catheline,Denny Schanze,Ingolf Franke,Yves Sznajer,Anne-Sophie Truant,Brigitte Adams,Julie Désir,Ronald Biemann,York Pei,Elisabet Ars,Nuria Lloberas,A. Madrid,Vikas R. Dharnidharka,Anne M Connolly,Marcia C. Willing,Megan A. Cooper,Richard P. Lifton,Richard P. Lifton,Matias Simons,Matias Simons,Howard Riezman,Corinne Antignac,Corinne Antignac,Julie D. Saba,Friedhelm Hildebrandt +77 more
TL;DR: Results indicate that SGPL1 mutations cause a syndromic form of Steroid-resistant nephrotic syndrome, which causes chronic kidney disease cases in patients with SRNS.