Zobrazeno 1 - 10 of 64 pro vyhledávání: '"KARL P. SCHLINGMANN"'
1
Akademický článek
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions
Autor: Nikolai Tschernoster, Florian Erger, Stefan Kohl, Björn Reusch, Andrea Wenzel, Stephen Walsh, Holger Thiele, Christian Becker, Marek Franitza, Malte P. Bartram, Martin Kömhoff, Lena Schumacher, Christian Kukat, Tatiana Borodina, Claudia Quedenau, Peter Nürnberg, Markus M Rinschen, Jan H. Driller, Bjørn P. Pedersen, Karl P. Schlingmann, Bruno Hüttel, Detlef Bockenhauer, Bodo Beck, Janine Altmüller
Publikováno v: Genome Medicine, Vol 15, Iss 1, Pp 1-17 (2023)
Abstract Background Long-read sequencing is increasingly used to uncover structural variants in the human genome, both functionally neutral and deleterious. Structural variants occur more frequently in regions with a high homology or repetitive segme
Externí odkaz: https://doaj.org/article/562f2d8f33f64894b552c46d64c66672
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2
Akademický článek
Juvenile onset IIH and CYP24A1 mutations
Autor: Karl P. Schlingmann, Walburga Cassar, Martin Konrad
Publikováno v: Bone Reports, Vol 9, Iss , Pp 42-46 (2018)
The term Idiopathic infantile hypercalcemia (IIH) was first introduced almost 70 years ago when symptomatic hypercalcemia developed in children after receiving high doses of vitamin D for the prevention of rickets. The underlying pathophysiology rema
Externí odkaz: https://doaj.org/article/3da2270b897f4fa5834f9cfe75eb746e
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3
Autoimmune Renal Calcium and Magnesium Wasting
Autor: Karl P. Schlingmann, Martin Konrad
Publikováno v: J Am Soc Nephrol
BACKGROUND: Chronic hypomagnesemia is commonly due to diarrhea, alcoholism, and drugs. More rarely, it is caused by genetic defects in the effectors of renal magnesium reabsorption. METHODS: In an adult patient with acquired severe hypomagnesemia, hy
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::020797f770c9cf90e02c6bbee9dee3e8
https://pubmed.ncbi.nlm.nih.gov/35728884
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4
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy
Autor: Anukrati Nigam, Deborah P. Jones, Martin Konrad, Claudia Dafinger, Karin Klingel, Stéphane Burtey, Francisco J. Arjona, David M. Sabatini, Carsten Bergmann, Eric Schulze-Bahr, Caro Bos, Pascal Houillier, Rosa Vargas-Poussou, Mehmet Eltan, Holger Thiele, Alina Braun, Tulay Guran, Nine V A M Knoers, Jeroen H. F. de Baaij, Janine Altmüller, Max C. Liebau, Karin Dahan, Nathalie Godefroid, Jun Oh, François Jouret, Holger Rehmann, Felix Kleinerüschkamp, Maria Ibars Serra, Bodo B. Beck, Bernhard Schermer, Karl P. Schlingmann, Kirsten Y. Renkema, Fried J. T. Zwartkruis, Kuang Shen, Jens König, Marie-Christine Parotte
Publikováno v: Journal of the American Society of Nephrology, 32(11). AMER SOC NEPHROLOGY
Journal of the American Society of Nephrology, Vol. 32, no.11, p. 2885-2899 (2021)
Journal of the American Society of Nephrology, 32, 11, pp. 2885-2899
J Am Soc Nephrol
Journal of the American Society of Nephrology, 32, 2885-2899
Contains fulltext : 244896.pdf (Publisher’s version ) (Closed access) BACKGROUND: Over the last decade, advances in genetic techniques have resulted in the identification of rare hereditary disorders of renal magnesium and salt handling. Neverthele
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8850e8d2efcd78ef50a2a9c7c2c8c5de
https://doi.org/10.1681/asn.2021030333
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5
A novel synonymous homozygous variant [c.2538G>A (p.Thr846Thr)] in TRPM6 in a patient with hypomagnesemia with secondary hypocalcemia
Autor: Özlem Nalbantoğlu, Gülçin Arslan, Beyhan Özkaya, Karl P. Schlingmann, Sezer Acar, Behzat Özkan, Özge Köprülü
Publikováno v: Journal of Pediatric Endocrinology and Metabolism. 34:1481-1486
Objectives Hypomagnesemia 1, intestinal (HOMG1) is characterized by neurological symptoms that occur due to hypocalcemia and hypomagnesemia and caused by mutations in the TRPM6. Most of the identified variants in TRPM6 lead to premature termination:
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::af84d02b84eaaac4cd382b30acd37737
https://doi.org/10.1515/jpem-2021-0165
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6
Defects in KCNJ16 cause a novel tubulopathy with hypokalemia, salt wasting, disturbed acid-base homeostasis, and sensorineural deafness
Autor: Detlef Bockenhauer, Aparna Renigunta, Bertrand Knebelmann, Anselm A. Zdebik, Huguette Debaix, Jennifer Lake, Olivier Devuyst, Dorien Lugtenberg, Martin Konrad, Jeroen H. F. de Baaij, Richard Warth, Anna-Lena Forst, Stephanie Tellier, Pascal Houillier, Daan H H M Viering, Sinthura Mahendran, Velko Atanasov, Alexander Staruschenko, Tahsin Stefan Barakat, Valentine Gillion, Stefanie Weber, Ewout J. Hoorn, Christoph Rudin, Oleg Palygin, Caroline Rousset-Rouvière, Nathalie Godefroid, Rosa Vargas-Poussou, Alice S. Brooks, Karl P. Schlingmann, Vijay Renigunta, Robert Kleta
Publikováno v: Journal of the American Society of Nephrology, 32(6), 1498-1512. American Society of Nephrology
J Am Soc Nephrol
Journal of the American Society of Nephrology, 32, 1498-1512
Journal of the American Society of Nephrology, 32, 6, pp. 1498-1512
Background: The transepithelial transport of electrolytes, solutes, and water in the kidney is a well-orchestrated process involving numerous membrane transport systems. Basolateral potassium channels in tubular cells not only mediate potassium recyc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4a91f68731b071b799d0d4b11a305e1
https://doi.org/10.1681/asn.2020111587
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8
Akademický článek
Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel TRMP6 gene mutation
Autor: Abdelhadi M Habeb, Hanan Al-Harbi, Karl P Schlingmann
Publikováno v: Saudi Journal of Kidney Diseases and Transplantation, Vol 23, Iss 5, Pp 1038-1042 (2012)
Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare condi-tion caused by mutations in the Transient Receptor Potential Melastatin 6 (TRMP6) gene. Patients usually present during early infancy with symptomatic hypocalcemia; however,
Externí odkaz: https://doaj.org/article/53b0b68b9b2f40ba9af54842a6d8d352
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9
Vitamin D-dependent Hypercalcemia
Autor: Karl P. Schlingmann
Publikováno v: Endocrinology and metabolism clinics of North America. 50(4)
Vitamin D metabolism represents a well-integrated, hormonally regulated endocrine unit interlinking calcium and phosphate metabolism. Pathophysiologic processes disturbing vitamin D metabolism comprise classic defects of vitamin D activation and acti
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cabeeee2cbb4ba28a273dd7c869c41c
https://pubmed.ncbi.nlm.nih.gov/34774244
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10
Author's Reply
Autor: Karl P. Schlingmann, François Jouret, Nine V.A.M. Knoers, Jeroen H.F. de Baaij
Publikováno v: J Am Soc Nephrol
Journal of the American Society of Nephrology, 33(5), 1048-1049. AMER SOC NEPHROLOGY
Journal of the American Society of Nephrology, 33, 1048-1049
Journal of the American Society of Nephrology, 33, 5, pp. 1048-1049
Contains fulltext : 251702.pdf (Publisher’s version ) (Closed access)
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82204d760d173792aac5e0c4e48ca41d
https://doi.org/10.1681/ASN.2022030252
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