Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

Autor: Konstantin Deutsch, Verena Klämbt, Thomas M. Kitzler, Tilman Jobst-Schwan, Ronen Schneider, Florian Buerger, Steve Seltzsam, Sherif El Desoky, Jameela A. Kari, Farkhanda Hafeez, Maria Szczepańska, Loai A. Eid, Hazem S. Awad, Muna Al-Saffar, Neveen A. Soliman, Velibor Tasic, Camille Nicolas-Frank, Kirollos Yousef, Luca M. Schierbaum, Sophia Schneider, Abdul Halawi, Izzeldin Elmubarak, Katharina Lemberg, Shirlee Shril, Shrikant M. Mane, Nancy Rodig, Friedhelm Hildebrandt

Publikováno v: Genes and Diseases, Vol 11, Iss 5, Pp 101111- (2024)

Externí odkaz: https://doaj.org/article/9dbf15b34e7843c2a166f0460ac001f4

Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

Autor: Youying Mao, Ronen Schneider, Peter F.M. van der Ven, Marvin Assent, Keerthika Lohanadan, Verena Klämbt, Florian Buerger, Thomas M. Kitzler, Konstantin Deutsch, Makiko Nakayama, Amar J. Majmundar, Nina Mann, Tobias Hermle, Ana C. Onuchic-Whitford, Wei Zhou, Nandini Nagarajan Margam, Roy Duncan, Jonathan Marquez, Mustafa Khokha, Hanan M. Fathy, Jameela A. Kari, Sherif El Desoky, Loai A. Eid, Hazem Subhi Awad, Muna Al-Saffar, Shrikant Mane, Richard P. Lifton, Dieter O. Fürst, Shirlee Shril, Friedhelm Hildebrandt

Publikováno v: Kidney International Reports, Vol 6, Iss 2, Pp 472-483 (2021)

Introduction: Most of the approximately 60 genes that if mutated cause steroid-resistant nephrotic syndrome (SRNS) are highly expressed in the glomerular podocyte, rendering SRNS a “podocytopathy.” Methods: We performed whole-exome sequencing (WE

Externí odkaz: https://doaj.org/article/dd37eae7f792449e9379ede47e4cb65a

A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome

Autor: Lea Maria Merz, Florian Buerger, Niels Ziegelasch, Martin Zenker, Ilse Wieland, Tobias Lipek, Tillmann Wallborn, Nicolas Terliesner, Freerk Prenzel, Manuela Siekmeyer, Katalin Dittrich

Publikováno v: Frontiers in Endocrinology, Vol 13 (2022)

Epidermal nevus syndromes encompass a highly heterogeneous group of systemic disorders, characterized by epidermal nevi, and a spectrum of neuromuscular, ocular, and bone abnormalities. Cutaneous-skeletal hypophosphatemia syndrome (CSHS) constitutes

Externí odkaz: https://doaj.org/article/219374aca3734a2791dc9d90aa316406

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs

Autor: Verena Klämbt, Florian Buerger, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth, Anna-Carina Weiss, Tobias Sieckmann, Ethan Lai, Dervla M. Connaughton, Steve Seltzsam, Nina Mann, Amar J. Majmundar, Chen-Han W. Wu, Ana C. Onuchic-Whitford, Shirlee Shril, Sophia Schneider, Luca Schierbaum, Rufeng Dai, Mir Reza Bekheirnia, Marieke Joosten, Omer Shlomovitz, Asaf Vivante, Ehud Banne, Shrikant Mane, Richard P. Lifton, Karin M. Kirschner, Andreas Kispert, Georg Rosenberger, Klaus-Dieter Fischer, Soeren S. Lienkamp, Mirjam M.P. Zegers, Friedhelm Hildebrandt

Publikováno v: Journal of the American Society of Nephrology, 34, 2, pp. 273-290
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
Journal of the American Society of Nephrology, 34, 273-290

Background: About 40 disease genes have been described to date for isolated congenital anomalies of the kidneys and urinary tract (CAKUT), the most common cause of childhood chronic kidney disease. However, these genes account for only 20% of cases.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4439761a65e0ca2ac0685948bb12003
https://repository.ubn.ru.nl/handle/2066/290858

Limbal BCAM expression identifies a proliferative progenitor population capable of holoclone formation and corneal differentiation

Autor: Yuzuru Sasamoto, Catherine A.A. Lee, Brian J. Wilson, Florian Buerger, Gabrielle Martin, Ananda Mishra, Shoko Kiritoshi, Johnathan Tran, Gabriel Gonzalez, Friedhelm Hildebrandt, Vickie Y. Jo, Christine G. Lian, George F. Murphy, Bruce R. Ksander, Markus H. Frank, Natasha Y. Frank

Publikováno v: Cell reports, vol 40, iss 6

The corneal epithelium is renowned for high regenerative potential, which is dependent on the coordinated function of its diverse progenitor subpopulations. However, the molecular pathways governing corneal epithelial progenitor differentiation are i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97c6622c30cee74da745764cb4eae415
https://escholarship.org/uc/item/2q80v7hs