Search Results - "Kolvenbach, Caroline M"

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation by Schneider, Ronen, Deutsch, Konstantin, Hoeprich, Gregory J., Marquez, Jonathan, Hermle, Tobias, Braun, Daniela A., Seltzsam, Steve, Kitzler, Thomas M., Mao, Youying, Buerger, Florian, Majmundar, Amar J., Onuchic-Whitford, Ana C., Kolvenbach, Caroline M., Schierbaum, Luca, Schneider, Sophia, Halawi, Abdul A., Nakayama, Makiko, Mann, Nina, Connaughton, Dervla M., Klämbt, Verena, Wagner, Matias, Riedhammer, Korbinian M., Renders, Lutz, Katsura, Yoshichika, Thumkeo, Dean, Soliman, Neveen A., Mane, Shrikant, Lifton, Richard P., Shril, Shirlee, Khokha, Mustafa K., Hoefele, Julia, Goode, Bruce L., Hildebrandt, Friedhelm

“…The discovery of >60 monogenic causes of nephrotic syndrome (NS) has revealed a central role for the actin regulators RhoA/Rac1/Cdc42 and their effectors,…”
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Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type by Lemberg, Katharina, Mertens, Nils D., Yousef, Kirollos, Schneider, Ronen, Merz, Lea M., Mansour, Bshara, Salmanullah, Daanya, Kolvenbach, Caroline M., Saida, Ken, Yu, Seyoung, Hölzel, Selina, Steinsapir, Andrew, Goncalves, Kevin A., Nicolas Frank, Camille, Franken, Gijs A. C., Shril, Shirlee, Buerger, Florian, Hildebrandt, Friedhelm

“…Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of childhood chronic kidney disease. Congenital nephrotic syndrome of the Finnish…”
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Modelling human lower urinary tract malformations in zebrafish by Kolvenbach, Caroline M., Dworschak, Gabriel C., Rieke, Johanna M., Woolf, Adrian S., Reutter, Heiko, Odermatt, Benjamin, Hilger, Alina C.

“…Advances in molecular biology are improving our understanding of the genetic causes underlying human congenital lower urinary tract (i.e., bladder and…”
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The genetics and pathogenesis of CAKUT by Kolvenbach, Caroline M., Shril, Shirlee, Hildebrandt, Friedhelm

“…Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a large variety of malformations that arise from defective kidney or urinary tract…”
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Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract by Wu, Chen-Han Wilfred, Lim, Tze Y., Wang, Chunyan, Seltzsam, Steve, Zheng, Bixia, Schierbaum, Luca, Schneider, Sophia, Mann, Nina, Connaughton, Dervla M., Nakayama, Makiko, van der Ven, Amelie T., Dai, Rufeng, Kolvenbach, Caroline M., Kause, Franziska, Ottlewski, Isabel, Stajic, Natasa, Soliman, Neveen A., Kari, Jameela A., El Desoky, Sherif, Fathy, Hanan M., Milosevic, Danko, Turudic, Daniel, Al Saffar, Muna, Awad, Hazem S., Eid, Loai A., Ramanathan, Aravind, Senguttuvan, Prabha, Mane, Shrikant M., Lee, Richard S., Bauer, Stuart B., Lu, Weining, Hilger, Alina C., Tasic, Velibor, Shril, Shirlee, Sanna-Cherchi, Simone, Hildebrandt, Friedhelm

“…Pathogenic copy number variants (CNVs) could explain congenital anomalies of the kidney and urinary tract (CAKUT) in 5.29% of the families in our cohort,…”
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Monogenic causes of chronic kidney disease in adults by Connaughton, Dervla M, Kennedy, Claire, Shril, Shirlee, Mann, Nina, Murray, Susan L, Williams, Patrick A, Conlon, Eoin, Nakayama, Makiko, van der Ven, Amelie T, Ityel, Hadas, Kause, Franziska, Kolvenbach, Caroline M, Dai, Rufeng, Vivante, Asaf, Braun, Daniela A, Schneider, Ronen, Kitzler, Thomas M, Moloney, Brona, Moran, Conor P, Smyth, John S, Kennedy, Alan, Benson, Katherine, Stapleton, Caragh, Denton, Mark, Magee, Colm, O'Seaghdha, Conall M, Plant, William D, Griffin, Matthew D, Awan, Atif, Sweeney, Clodagh, Mane, Shrikant M, Lifton, Richard P, Griffin, Brenda, Leavey, Sean, Casserly, Liam, de Freitas, Declan G, Holian, John, Dorman, Anthony, Doyle, Brendan, Lavin, Peter J, Little, Mark A, Conlon, Peter J, Hildebrandt, Friedhelm

“…Approximately 500 monogenic causes of chronic kidney disease (CKD) have been identified, mainly in pediatric populations. The frequency of monogenic causes…”
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Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease by Elmubarak, Izzeldin, Shril, Shirlee, Mansour, Bshara, Bao, Aaron, Kolvenbach, Caroline M., Kari, Jameela A., Shalaby, Mohamed A., El Desoky, Sherif, Hildebrandt, Friedhelm, Schneider, Ronen

“…Background Steroid-resistant nephrotic syndrome is the second leading cause of chronic kidney disease among patients < 25 years of age. Through exome…”
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Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies by Buerger, Florian, Merz, Lea M, Saida, Ken, Yu, Seyoung, Salmanullah, Daanya, Lemberg, Katharina, Mertens, Nils D, Mansour, Bshara, Kolvenbach, Caroline M, Yousef, Kirollos, Hölzel, Selina, Braun, Alina, Franken, Gijs A C, Goncalves, Kevin A, Steinsapir, Andrew, Endlich, Nicole, Schneider, Ronen, Shril, Shirlee, Hildebrandt, Friedhelm

“…Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of chronic kidney disease before the age of 25 yr. Nephrin, encoded by localizes…”
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Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout by 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

“…Recently, recessive mutations of MAGI2 were identified as a cause of steroid-resistant nephrotic syndrome (SRNS) in humans and mice. To further delineate the…”
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X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems by Kolvenbach, Caroline M, Felger, Tim, Schierbaum, Luca, Thiffault, Isabelle, Pastinen, Tomi, Szczepańska, Maria, Zaniew, Marcin, Adamczyk, Piotr, Bayat, Allan, Yilmaz, Öznur, Lindenberg, Tobias T, Thiele, Holger, Hildebrandt, Friedhelm, Hinderhofer, Katrin, Moog, Ute, Hilger, Alina C, Sullivan, Bonnie, Bartik, Lauren, Gnyś, Piotr, Grote, Phillip, Odermatt, Benjamin, Reutter, Heiko M, Dworschak, Gabriel C

“…is thought to play an important role in cytoskeletal modification and development of the early nervous system. Previously, single-nucleotide variants (SNVs) or…”
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Phenotypic quantification of Nphs1-deficient mice by Schneider, Ronen, Mansour, Bshara, Kolvenbach, Caroline M, Buerger, Florian, Salmanullah, Daanya, Lemberg, Katharina, Merz, Lea M, Mertens, Nils D, Saida, Ken, Yousef, Kirollos, Franken, Gijs A C, Bao, Aaron, Yu, Seyoung, Hölzel, Selina, Nicolas-Frank, Camille, Steinsapir, Andrew, Goncalves, Kevin A, Shril, Shirlee, Hildebrandt, Friedhelm

“…Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of chronic kidney disease in children and young adults. The most severe form of…”
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A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract by Kolvenbach, Caroline M., Zheng, Bixia, Merz, Lea M., Mertens, Nils D., Mansour, Bshara, Wang, Chunyan, Seltzsam, Steve, Schneider, Sophia, Schierbaum, Luca, Pantel, Dalia, Chen, Jing, Ven, Amelie T., Bello, Jibril O., Shril, Shirlee, Hildebrandt, Friedhelm

“…Congenital anomalies of the kidney and urinary tract (CAKUT) are the most prevalent cause of chronic kidney disease that manifests in children. To date ~23…”
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Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT by Seltzsam, Steve, Wang, Chunyan, Zheng, Bixia, Mann, Nina, Connaughton, Dervla M., Wu, Chen-Han Wilfred, Schneider, Sophia, Schierbaum, Luca, Kause, Franziska, Kolvenbach, Caroline M., Nakayama, Makiko, Dai, Rufeng, Ottlewski, Isabel, Schneider, Ronen, Deutsch, Konstantin, Buerger, Florian, Klämbt, Verena, Mao, Youying, Onuchic-Whitford, Ana C., Nicolas-Frank, Camille, Yousef, Kirollos, Pantel, Dalia, Lai, Ethan W., Salmanullah, Daanya, Majmundar, Amar J., Bauer, Stuart B., Rodig, Nancy M., Somers, Michael J.G., Traum, Avram Z., Stein, Deborah R., Daga, Ankana, Baum, Michelle A., Daouk, Ghaleb H., Tasic, Velibor, Awad, Hazem S., Eid, Loai A., El Desoky, Sherif, Shalaby, Mohammed, Kari, Jameela A., Fathy, Hanan M., Soliman, Neveen A., Mane, Shrikant M., Shril, Shirlee, Ferguson, Michael A., Hildebrandt, Friedhelm

“…Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute the leading cause of chronic kidney disease in children. In total, 174 monogenic…”
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Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction by Kolvenbach, Caroline M., Dworschak, Gabriel C., Frese, Sandra, Japp, Anna S., Schuster, Peggy, Wenzlitschke, Nina, Yilmaz, Öznur, Lopes, Filipa M., Pryalukhin, Alexey, Schierbaum, Luca, van der Zanden, Loes F.M., Kause, Franziska, Schneider, Ronen, Taranta-Janusz, Katarzyna, Szczepańska, Maria, Pawlaczyk, Krzysztof, Newman, William G., Beaman, Glenda M., Stuart, Helen M., Cervellione, Raimondo M., Feitz, Wouter F.J., van Rooij, Iris A.L.M., Schreuder, Michiel F., Steffens, Martijn, Weber, Stefanie, Merz, Waltraut M., Feldkötter, Markus, Hoppe, Bernd, Thiele, Holger, Altmüller, Janine, Berg, Christoph, Kristiansen, Glen, Ludwig, Michael, Reutter, Heiko, Woolf, Adrian S., Hildebrandt, Friedhelm, Grote, Phillip, Zaniew, Marcin, Odermatt, Benjamin, Hilger, Alina C.

“…Congenital lower urinary-tract obstruction (LUTO) is caused by anatomical blockage of the bladder outflow tract or by functional impairment of urinary voiding…”
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CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations by Mann, Nina, Kause, Franziska, Henze, Erik K., Gharpure, Anant, Shril, Shirlee, Connaughton, Dervla M., Nakayama, Makiko, Klämbt, Verena, Majmundar, Amar J., Wu, Chen-Han W., Kolvenbach, Caroline M., Dai, Rufeng, Chen, Jing, van der Ven, Amelie T., Ityel, Hadas, Tooley, Madeleine J., Kari, Jameela A., Bownass, Lucy, El Desoky, Sherif, De Franco, Elisa, Shalaby, Mohamed, Tasic, Velibor, Bauer, Stuart B., Lee, Richard S., Beckel, Jonathan M., Yu, Weiqun, Mane, Shrikant M., Lifton, Richard P., Reutter, Heiko, Ellard, Sian, Hibbs, Ryan E., Kawate, Toshimitsu, Hildebrandt, Friedhelm

“…Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in the first three decades of life, and in…”
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Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT) by Wu, Chen-Han Wilfred, Mann, Nina, Nakayama, Makiko, Connaughton, Dervla M., Dai, Rufeng, Kolvenbach, Caroline M., Kause, Franziska, Ottlewski, Isabel, Wang, Chunyan, Klämbt, Verena, Seltzsam, Steve, Lai, Ethan W., Selvin, Aravind, Senguttuva, Prabha, Bodamer, Olaf, Stein, Deborah R., El Desoky, Sherif, Kari, Jameela A., Tasic, Velibor, Bauer, Stuart B., Shril, Shirlee, Hildebrandt, Friedhelm

“…Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in childhood and adolescence. We aim to…”
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COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans by Kitzler, Thomas M., Schneider, Ronen, Kohl, Stefan, Kolvenbach, Caroline M., Connaughton, Dervla M., Dai, Rufeng, Mann, Nina, Nakayama, Makiko, Majmundar, Amar J., Wu, Chen-Han W., Kari, Jameela A., El Desoky, Sherif M., Senguttuvan, Prabha, Bogdanovic, Radovan, Stajic, Natasa, Valivullah, Zaheer, Lek, Monkol, Mane, Shrikant, Lifton, Richard P., Tasic, Velibor, Shril, Shirlee, Hildebrandt, Friedhelm

“…Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease (~ 45%) that manifests before 30 years of age…”
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Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes by Kolvenbach, Caroline M., Ven, Amelie T., Kause, Franziska, Shril, Shirlee, Scala, Marcello, Connaughton, Dervla M., Mann, Nina, Nakayama, Makiko, Dai, Rufeng, Kitzler, Thomas M., Schneider, Ronen, Schierbaum, Luca, Schneider, Sophia, Accogli, Andrea, Torella, Annalaura, Piatelli, Gianluca, Nigro, Vincenzo, Capra, Valeria, Hoppe, Bernd, Märzheuser, Stefanie, Schmiedeke, Eberhard, Rehm, Heidi L., Mane, Shrikant, Lifton, Richard P., Dworschak, Gabriel C., Hilger, Alina C., Reutter, Heiko, Hildebrandt, Friedhelm

“…The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CFs): vertebral defects (V), anorectal malformations…”
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Correction to: Phenotypic quantification of Nphs1‑deficient mice by Schneider, Ronen, Mansour, Bshara, Kolvenbach, Caroline M., Buerger, Florian, Salmanullah, Daanya, Lemberg, Katharina, Merz, Lea M., Mertens, Nils D., Saida, Ken, Yousef, Kirollos, Franken, Gijs A. C., Bao, Aaron, Yu, Seyoung, Hölzel, Selina, Nicolas-Frank, Camille, Steinsapir, Andrew, Goncalves, Kevin A., Shril, Shirlee, Hildebrandt, Friedhelm

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A Genotype/Phenotype Study of KDM5B -Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants by Borroto, Maria Carla, Michaud, Coralie, Hudon, Chloé, Agrawal, Pankaj B, Agre, Katherine, Applegate, Carolyn D, Beggs, Alan H, Bjornsson, Hans T, Callewaert, Bert, Chen, Mei-Jan, Curry, Cynthia, Devinsky, Orrin, Dudding-Byth, Tracy, Fagan, Kelly, Finnila, Candice R, Gavrilova, Ralitza, Genetti, Casie A, Hiatt, Susan M, Hildebrandt, Friedhelm, Wojcik, Monica H, Kleefstra, Tjitske, Kolvenbach, Caroline M, Korf, Bruce R, Kruszka, Paul, Li, Hong, Litwin, Jessica, Marcadier, Julien, Platzer, Konrad, Blackburn, Patrick R, Reijnders, Margot R F, Reutter, Heiko, Schanze, Ina, Shieh, Joseph T, Stevens, Cathy A, Valivullah, Zaheer, van den Boogaard, Marie-José, Klee, Eric W, Campeau, Philippe M

“…Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in have been identified as causative for autosomal recessive intellectual…”
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