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Your search keyword '"Mache, Christoph J."' showing total 6 results
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6 results on '"Mache, Christoph J."'

1. Corrigendum: Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

Author

Bedin, Mathilda, Boyer, Olivia, Servais, Aude, Li, Yong, Villoing-Gaude, Laure, Tete, Marie-Josephe, Cambier, Alexandra, Hogan, Julien, Baudouin, Veronique, Krid, Saoussen, Bensman, Albert, Lammens, Florie, Louillet, Ferielle, Ranchin, Bruno, Vigneau, Cecile, Bouteau, Iseline, Isnard-Bagnis, Corinne, Mache, Christoph J., Schafer, Tobias, Pape, Lars, Godel, Markus, Huber, Tobias B., Benz, Marcus, Klaus, Gunter, Hansen, Matthias, Latta, Kay, Gribouval, Olivier, Moriniere, Vincent, Tournant, Carole, Grohmann, Maik, Kuhn, Elisa, Wagner, Timo, Bole-Feysot, Christine, Jabot-Hanin, Fabienne, Nitschke, Patrick, Ahluwalia, Tarunveer S., Kottgen, Anna, Andersen, Christian Brix Folsted, Bergmann, Carsten, Antignac, Corinne, and Simons, Matias

Subjects
Health care industry
Abstract

Original citation: J Clin Invest. 2020;130(1):335-344. https://doi.org/10.1172/JCI129937. Citation for this corrigendum: J Clin Invest. 2022;132(11):e161852. https://doi.org/10.1172/JCI161852. The authors recently became aware that the standard errors for the diabetes group were [...]

Published
2022
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2. Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype–genotype observations in four children

Author

Azabdaftari, Aline, primary, Sczakiel, Henrike L., additional, Danyel, Magdalena, additional, Kohlmaier, Benno, additional, Mache, Christoph J., additional, Stalke, Amelie, additional, Pfister, Eva‐Doreen, additional, Thumfart, Julia, additional, Henning, Stephan, additional, Knisely, A. S., additional, and Bufler, Philip, additional

Published
2023
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3. Expanding the phenotypic spectrum of Kenny-Caffey syndrome: a case series and systematic literature review

Author

Schigt, Heidi, primary, Bald, Martin, additional, van der Eerden, Bram C J, additional, Gal, Lars, additional, Ilenwabor, Barnabas P, additional, Konrad, Martin, additional, Levine, Michael A, additional, Li, Dong, additional, Mache, Christoph J, additional, Mackin, Sharon, additional, Perry, Colin, additional, Rios, Francisco J, additional, Schlingmann, Karl Peter, additional, Storey, Ben, additional, Trapp, Christine M, additional, Verkerk, Annemieke J M H, additional, Zillikens, M Carola, additional, Touyz, Rhian M, additional, Hoorn, Ewout J, additional, Hoenderop, Joost G J, additional, and de Baaij, Jeroen H F, additional

Published
2023
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4. Expanding the Phenotypic Spectrum of Kenny–Caffey Syndrome:a case series and systematic literature review

Author

Schigt, Heidi, Bald, Martin, van der Eerden, Bram C.J., Gal, Lars, Ilenwabor, Barnabas P., Konrad, Martin, Levine, Michael A., Li, Dong, Mache, Christoph J., Mackin, Sharon, Perry, Colin, Rios, Francisco J., Schlingmann, Karl Peter, Storey, Ben, Trapp, Christine M., Verkerk, Annemieke J.M.H., Zillikens, M. Carola, Touyz, Rhian M., Hoorn, Ewout J., Hoenderop, Joost G.J., de Baaij, Jeroen H.F., Schigt, Heidi, Bald, Martin, van der Eerden, Bram C.J., Gal, Lars, Ilenwabor, Barnabas P., Konrad, Martin, Levine, Michael A., Li, Dong, Mache, Christoph J., Mackin, Sharon, Perry, Colin, Rios, Francisco J., Schlingmann, Karl Peter, Storey, Ben, Trapp, Christine M., Verkerk, Annemieke J.M.H., Zillikens, M. Carola, Touyz, Rhian M., Hoorn, Ewout J., Hoenderop, Joost G.J., and de Baaij, Jeroen H.F.

Abstract

Context: Kenny–Caffey syndrome (KCS) is a rare hereditary disorder characterized by short stature, hypoparathyroidism, and electrolyte disturbances. KCS1 and KCS2 are caused by pathogenic variants in TBCE and FAM111A, respectively. Clinically the phenotypes are difficult to distinguish. Objective: The objective was to determine and expand the phenotypic spectrum of KCS1 and KCS2 in order to anticipate complications that may arise in these disorders. Methods: We clinically and genetically analyzed 10 KCS2 patients from 7 families. Because we found unusual phenotypes in our cohort, we performed a systematic review of genetically confirmed KCS cases using PubMed and Scopus. Evaluation by 3 researchers led to the inclusion of 26 papers for KCS1 and 16 for KCS2, totaling 205 patients. Data were extracted following the Cochrane guidelines and assessed by 2 independent researchers. Results: Several patients in our KCS2 cohort presented with intellectual disability (3/10) and chronic kidney disease (6/10), which are not considered common findings in KCS2. Systematic review of all reported KCS cases showed that the phenotypes of KCS1 and KCS2 overlap for postnatal growth retardation (KCS1: 52/52, KCS2: 23/23), low parathyroid hormone levels (121/121, 16/20), electrolyte disturbances (139/139, 24/27), dental abnormalities (47/50, 15/16), ocular abnormalities (57/60, 22/23), and seizures/spasms (103/115, 13/16). Symptoms more prevalent in KCS1 included intellectual disability (74/80, 5/24), whereas in KCS2 bone cortical thickening (1/18, 16/20) and medullary stenosis (7/46, 27/28) were more common. Conclusion: Our case series established chronic kidney disease as a new feature of KCS2. In the literature, we found substantial overlap in the phenotypic spectra of KCS1 and KCS2, but identified intellectual disability and the abnormal bone phenotype as the most distinguishing features.

Published
2023

5. Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

Author

Bedin, Mathilda, primary, Boyer, Olivia, additional, Servais, Aude, additional, Li, Yong, additional, Villoing-Gaudé, Laure, additional, Tête, Marie-Josephe, additional, Cambier, Alexandra, additional, Hogan, Julien, additional, Baudouin, Veronique, additional, Krid, Saoussen, additional, Bensman, Albert, additional, Lammens, Florie, additional, Louillet, Ferielle, additional, Ranchin, Bruno, additional, Vigneau, Cecile, additional, Bouteau, Iseline, additional, Isnard-Bagnis, Corinne, additional, Mache, Christoph J., additional, Schäfer, Tobias, additional, Pape, Lars, additional, Gödel, Markus, additional, Huber, Tobias B., additional, Benz, Marcus, additional, Klaus, Günter, additional, Hansen, Matthias, additional, Latta, Kay, additional, Gribouval, Olivier, additional, Morinière, Vincent, additional, Tournant, Carole, additional, Grohmann, Maik, additional, Kuhn, Elisa, additional, Wagner, Timo, additional, Bole-Feysot, Christine, additional, Jabot-Hanin, Fabienne, additional, Nitschké, Patrick, additional, Ahluwalia, Tarunveer S., additional, Köttgen, Anna, additional, Andersen, Christian Brix Folsted, additional, Bergmann, Carsten, additional, Antignac, Corinne, additional, and Simons, Matias, additional

Published
2022
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6. Withdrawn as duplicate: Expanding the phenotypic spectrum of Kenny-Caffey syndrome: a case series and systematic literature review

Author

Schigt, Heidi, Bald, Martin, van der Eerden, Bram C J, Gal, Lars, Ilenwabor, Barnabas P, Konrad, Martin, Levine, Michael A, Li, Dong, Mache, Christoph J, Mackin, Sharon, Perry, Colin, Rios, Francisco J, Schlingmann, Karl Peter, Storey, Ben, Trapp, Christine M, Verkerk, Annemieke J M H, Zillikens, M Carola, Touyz, Rhian M, Hoorn, Ewout J, Hoenderop, Joost G J, and de Baaij, Jeroen H F

Abstract

This article has been withdrawn due to a publisher error that caused it to be duplicated. The definitive version of this article is published under https://doi.org/10.1210/clinem/dgad147.

Published
2023
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