Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome

Authors: Viering, Daan H. H. M., Hureaux, Marguerite, Neveling, Kornelia, Latta, Femke, Kwint, Michael, Blanchard, Anne, Konrad, Martin, Bindels, René J. M., Schlingmann, Karl-Peter, Vargas-Poussou, Rosa

Source: Journal of the American Society of Nephrology. 34(2):333-345

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN632243489&indx=1&recIds=ETOCRN632243489

Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis

Authors: Hohenfellner, Katharina, Nießl, Christina, Haffner, Dieter, Oh, Jun, Okorn, Christine, Palm, Katja, Schlingmann, Karl-Peter, Wygoda, Simone, Gahl, William Allen

Source: Molecular genetics and metabolism. 136(4):282-288

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100169291103.0x000001&indx=1&recIds=ETOCvdc_100169291103.0x000001

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis

Authors: König, Jens Christian, Karsay, Rebeka, Gerß, Joachim, Schlingmann, Karl-Peter, Dahmer-Heath, Mareike, Telgmann, Anna-Katharina, Kollmann, Sabine, Ariceta, Gema, Gillion, Valentine, Bockenhauer, Detlef, Bertholet-Thomas, Aurélia, Mastrangelo, Antonio, Boyer, Olivia, Lilien, Marc, Decramer, Stéphane, Schanstra, Joost. P., Pohl, Martin, Schild, Raphael, Weber, Stefanie, Hoefele, Julia, Drube, Jens, Cetiner, Metin, Hansen, Matthias, Thumfart, Julia, Tönshoff, Burkhard, Habbig, Sandra, Liebau, Max Christoph, Bald, Martin, Bergmann, Carsten, Pennekamp, Petra, Konrad, Martin

Source: Kidney international reports. 7(9):2016-2028

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100169199812.0x000001&indx=1&recIds=ETOCvdc_100169199812.0x000001

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis

Authors: Antczak, P., Birtel, J., Bergmann, C., Cetiner, M., Dahmer-Heath, M., Drube, J., Gerß, J., Haffner, D., Illig, T., Kamp-Becker, I., Klopp, N., Kollmann, S., König, J., Konrad, M., Liebau, M.C., Nittel, C., Okorn, C., Omran, H., Pape, L., Pennekamp, P., Schäfer, F., Schermer, B., Storf, H., Vasseur, J., Weber, S., Wohlgemuth, K., Ziegler, W., Gimpel, C., Göbel, J., Schlevogt, B., König, Jens Christian, Karsay, Rebeka, Gerß, Joachim, Schlingmann, Karl-Peter, Dahmer-Heath, Mareike, Telgmann, Anna-Katharina, Kollmann, Sabine, Ariceta, Gema, Gillion, Valentine, Bockenhauer, Detlef, Bertholet-Thomas, Aurélia, Mastrangelo, Antonio, Boyer, Olivia, Lilien, Marc, Decramer, Stéphane, Schanstra, Joost. P., Pohl, Martin, Schild, Raphael, Weber, Stefanie, Hoefele, Julia, Drube, Jens, Cetiner, Metin, Hansen, Matthias, Thumfart, Julia, Tönshoff, Burkhard, Habbig, Sandra, Liebau, Max Christoph, Bald, Martin, Bergmann, Carsten, Pennekamp, Petra, Konrad, Martin

Source: In Kidney International Reports September 2022 7(9):2016-2028

Vitamin D–dependent Hypercalcemia

Authors: Schlingmann, Karl Peter

Source: In Endocrinology and Metabolism Clinics of North America December 2021 50(4):729-742

Differential diagnosis of vitamin D–related hypercalcemia using serum vitamin D metabolite profiling

Authors: Kaufmann, Martin, Schlingmann, Karl‐Peter, Berezin, Linor, Molin, Arnaud, Sheftel, Jesse, Vig, Melanie, Gallagher, John C., Nagata, Akiko, Masoud, Shadi Sedghi, Sakamoto, Ryota, Nagasawa, Kazuo, Uesugi, Motonari, Kottler, Marie Laure, Konrad, Martin, Jones, Glenville

Source: Journal of bone and mineral research. 36(7):1340-1350

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100123670940.0x000001&indx=1&recIds=ETOCvdc_100123670940.0x000001

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)

Authors: Franken, Gijs A. C., Müller, Dominik, Mignot, Cyril, Keren, Boris, Lévy, Jonathan, Tabet, Anne‐Claude, Germanaud, David, Tejada, María‐Isabel, Kroes, Hester Y., Nievelstein, Rutger A. J., Brimble, Elise, Ruzhnikov, Maria, Claverie‐Martin, Felix, Szczepańska, Maria, Ćuk, Martin, Latta, Femke, Konrad, Martin, Martínez‐Cruz, Luis A., Bindels, René J. M., Hoenderop, Joost G. J., Schlingmann, Karl‐Peter, Baaij, Jeroen H. F.

Source: Human mutation. 42(4):473-486

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100120102865.0x000001&indx=1&recIds=ETOCvdc_100120102865.0x000001

Health-related quality of life of children with X-linked hypophosphatemia in Germany.

Authors: Klein, Martin, Obermaier, Michael, Mutze, Helena, Wilden, Sophia Maria, Rehberg, Mirko, Schlingmann, Karl Peter, Schmidt, Dorothee, Metzing, Oliver, Hübner, Angela, Richter-Unruh, Anette, Kemper, Markus J., Weitz, Marcus, Wühl, Elke, Jorch, Norbert, Patzer, Ludwig, Freiberg, Clemens, Heger, Sabine, Ziviknjak, Miroslav, Schnabel, Dirk, Haffner, Dieter

Source: Pediatric Nephrology; Nov2024, Vol. 39 Issue 11, p3221-3231, 11p

Subject Terms: THERAPEUTIC use of monoclonal antibodies, RESEARCH funding, PATIENTS, SCIENTIFIC observation, INTERVIEWING, FATIGUE (Physiology), RARE diseases, QUESTIONNAIRES, PHOSPHATES, TREATMENT effectiveness, LONGITUDINAL method, SURVEYS, CAREGIVERS, QUALITY of life, PSYCHOLOGICAL stress, HYPOPHOSPHATEMIA, WELL-being, VITAMIN D, DIETARY supplements, DISEASE complications, CHILDREN

Genetic Diseases of Vitamin D Metabolizing Enzymes

Authors: Jones, Glenville, Kottler, Marie Laure, Schlingmann, Karl Peter

Source: In Endocrinology and Metabolism Clinics of North America December 2017 46(4):1095-1117

A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia

Authors: van der Wijst, Jenny, Konrad, Martin, Verkaart, Sjoerd A.J., Tkaczyk, Marcin, Latta, Femke, Altmüller, Janine, Thiele, Holger, Beck, Bodo, Schlingmann, Karl Peter, de Baaij, Jeroen H.F.

Source: Nephron journals. 139(4):359-366

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100084716156.0x000001&indx=1&recIds=ETOCvdc_100084716156.0x000001

Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies

Authors: König, Jens, Kranz, Birgitta, König, Sabine, Schlingmann, Karl Peter, Titieni, Andrea, Tönshoff, Burkhard, Habbig, Sandra, Pape, Lars, Häffner, Karsten, Hansen, Matthias

Source: Clinical journal of the American Society of Nephrology. 12(12):1974-1983

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN615180024&indx=1&recIds=ETOCRN615180024

Effects of Burosumab Treatment on Mineral Metabolism in Children and Adolescents With X-linked Hypophosphatemia.

Authors: Ewert, Annika, Rehberg, Mirko, Schlingmann, Karl Peter, Hiort, Olaf, John-Kroegel, Ulrike, Metzing, Oliver, Wühl, Elke, Schaefer, Franz, Kemper, Markus J., Derichs, Ute, Richter-Unruh, Annette, Patzer, Ludwig, Albers, Norbert, Dunstheimer, Desiree, Haberland, Holger, Heger, Sabine, Schröder, Carmen, Jorch, Norbert, Schmid, Elmar, Staude, Hagen

Source: Journal of Clinical Endocrinology & Metabolism; Oct2023, Vol. 108 Issue 10, pe998-e1006, 9p

Subject Terms: MINERAL metabolism, HYPOPHOSPHATEMIA, GLOMERULAR filtration rate

Expanding the Phenotypic Spectrum of Kenny--Caffey Syndrome.

Authors: Schigt, Heidi, Bald, Martin, van der Eerden, Bram C. J., Gal, Lars, Ilenwabor, Barnabas P., Konrad, Martin, Levine, Michael A., Dong Li, 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.

Source: Journal of Clinical Endocrinology & Metabolism; Sep2023, Vol. 108 Issue 9, pe754-e768, 15p

Subject Terms: PHENOTYPES, RARE diseases, INTELLECTUAL disabilities

Loss of insulin-induced activation of TRPM6 magnesium channels results in impaired glucose tolerance during pregnancy

Authors: Nair, Anil V., Hocher, Berthold, Verkaart, Sjoerd, van Zeeland, Femke, Pfab, Thiemo, Slowinski, Torsten, Chen, You-Peng, Schlingmann, Karl Peter, Schaller, André, Gallati, Sabina, Bindels, René J., Konrad, Martin, Hoenderop, Joost G.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2012 Jul 01. 109(28), 11324-11329.

Access URL: https://www.jstor.org/stable/41684742

The Role of Tight Junctions in Paracellular Ion Transport in the Renal Tubule: Lessons Learned From a Rare Inherited Tubular Disorder

Authors: Haisch, Lea, Almeida, Jorge Reis, Abreu da Silva, Paulo Roberto, Schlingmann, Karl Peter, Konrad, Martin

Source: In American Journal of Kidney Diseases 2011 57(2):320-330

Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis

Authors: Dasgupta, Debayan, Wee, Mark J., Reyes, Monica, Li, Yuwen, Simm, Peter J., Sharma, Amita, Schlingmann, Karl-Peter, Janner, Marco, Biggin, Andrew, Lazier, Joanna

Source: Journal of the American Society of Nephrology. 25(10):2366-2375

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN600046195&indx=1&recIds=ETOCRN600046195

A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report.

Authors: Altıncık, Ayça¹ ayca.altincik@deu.edu.tr, Schlingmann, Karl Peter², Tosun, Mahya Sultan³

Source: Journal of Clinical Research in Pediatric Endocrinology. Mar2016, Vol. 8 Issue 1, p101-104. 4p.

Subject Terms: *HYPOCALCEMIA, *INBORN errors of metabolism, *HYPOMAGNESEMIA, *CYTOGENETICS, *GENEALOGY, *GENES, *GENETIC techniques, *GENETIC mutation, *PHENOTYPES, *GENETICS

A novel synonymous homozygous variant [c.2538G>A (p.Thr846Thr)] in TRPM6 in a patient with hypomagnesemia with secondary hypocalcemia.

Authors: Acar, Sezer, Schlingmann, Karl Peter, Nalbantoğlu, Özlem, Köprülü, Özge, Arslan, Gülçin, Özkaya, Beyhan, Özkan, Behzat

Source: Journal of Pediatric Endocrinology & Metabolism; Nov2021, Vol. 34 Issue 11, p1481-1486, 6p

Comment to "Recommendation on an updated standardization of serum magnesium reference ranges".

Authors: de Baaij, Jeroen H. F., Bockenhauer, Detlef, Claverie-Martin, Felix, Hoenderop, Joost G. J., Hoorn, Ewout J., Houillier, Pascal, Knoers, Nine V. A. M., Konrad, Martin, Müller, Dominik, Nijenhuis, Tom, Schlingmann, Karl Peter, Vargas Poussou, Rosa

Source: European Journal of Nutrition; Dec2022, Vol. 61 Issue 8, p4231-4233, 3p

Subject Terms: BLOOD serum analysis, HYPOMAGNESEMIA, CLINICAL pathology, REFERENCE values, MAGNESIUM

New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia.

Authors: Lainez, Sergio¹, Schlingmann, Karl Peter², van der Wijst, Jenny³, Dworniczak, Bernd⁴, van Zeeland, Femke⁵, Konrad, Martin², Bindels, René J⁵, Hoenderop, Joost G⁵

Source: European Journal of Human Genetics. Apr2014, Vol. 22 Issue 4, p497-504. 8p.

Subject Terms: *MISSENSE mutation, *HYPOMAGNESEMIA, *HYPOCALCEMIA, *TRP channels, *CELL membranes, *SERUM