Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Ria Schönauer"'
Autor:
Lotte Scherer, Ria Schönauer, Melanie Nemitz-Kliemchen, Tobias Hagemann, Elena Hantmann, Jonathan de Fallois, Friederike Petzold, Matthias Blüher, Jan Halbritter
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-12 (2023)
Abstract The risk of enteric hyperoxaluria is significantly increased after malabsorptive bariatric surgery (MBS). However, its underlying determinants are only poorly characterized. In this case–control study, we aimed at identifying clinical and
Externí odkaz:
https://doaj.org/article/a679c7e6b1334e9d8ca4e54b82d1b783
Autor:
Dana Sierks, Ria Schönauer, Anja Friedrich, Elena Hantmann, Jonathan de Fallois, Nikolas Linder, Janett Fischer, Adam Herber, Carsten Bergmann, Thomas Berg, Jan Halbritter
Publikováno v:
JHEP Reports, Vol 4, Iss 11, Pp 100579- (2022)
Background & Aims: Polycystic liver disease (PLD) manifests as numerous fluid-filled cysts scattered throughout the liver parenchyma. PLD most commonly develops in females, either as an extra-renal manifestation of autosomal-dominant polycystic kidne
Externí odkaz:
https://doaj.org/article/b8d51ffe40c4400a8346b121ecbd8216
Publikováno v:
Nutrients, Vol 15, Iss 9, p 2081 (2023)
Apart from increased fluid intake, patients with kidney stone disease (KSD) due to renal phosphate wasting require specific metaphylaxis. NaPi2a, NaPi2c, and NHERF1 regulate plasma phosphate concentration by reabsorbing phosphate in proximal kidney t
Externí odkaz:
https://doaj.org/article/d7fbd9224e8842c5af706ce31fc6bf35
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
BackgroundAutosomal polycystic kidney disease is distinguished into dominant (ADPKD) and recessive (ARPKD) inheritance usually caused by either monoallelic (PKD1/PKD2) or biallelic (PKHD1) germline variation. Clinical presentations are genotype-depen
Externí odkaz:
https://doaj.org/article/5756729c649b46ea956ecce862df4f2a
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Atypical hemolytic uremic syndrome (aHUS) is a heterogeneous disorder characterized by microangiopathic hemolytic anemia (MAHA), thrombocytopenia, and acute kidney injury (AKI). In about 50% of cases, pathogenic variants in genes involved in the inna
Externí odkaz:
https://doaj.org/article/01f4ae2fa657441da1db05c8ff1ee1f5
Autor:
Dorit Schleinitz, Anna Seidel, Ruth Stassart, Jürgen Klammt, Petra G. Hirrlinger, Ulrike Winkler, Susanne Köhler, John T. Heiker, Ria Schönauer, Joanna Bialek, Knut Krohn, Katrin Hoffmann, Peter Kovacs, Johannes Hirrlinger
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Microcephaly is a devastating condition defined by a small head and small brain compared to the age- and sex-matched population. Mutations in a number of different genes causative for microcephaly have been identified, e.g., MCPH1, WDR62, and ASPM. R
Externí odkaz:
https://doaj.org/article/ca7ee63e04ea4bef90e3730765618b66
Publikováno v:
Frontiers in Pediatrics, Vol 6 (2018)
Kidney stone disease is an increasingly prevalent condition with remarkable clinical heterogeneity, with regards to stone composition, age of manifestation, rate of recurrence, and impairment of kidney function. Calcium-based kidney stones account fo
Externí odkaz:
https://doaj.org/article/79a57c6d3a5a4500bd8880e240ad2e77
Autor:
Jan Halbritter, Sebastian Sewerin, Ria Schönauer, Dorothee Günzel, Sonja Grunewald, Carsten Bergmann, Angelika Rauch, Steffen Neuber, Jörg Piontek
Publikováno v:
Genes & Diseases. 9:1301-1314
Formation of claudin-10 based tight junctions (TJs) is paramount to paracellular Na+ transport in multiple epithelia. Sequence variants in CLDN10 have been linked to HELIX syndrome, a salt-losing tubulopathy with altered handling of divalent cations
Autor:
Ria Schönauer, Lotte Scherer, Melanie Nemitz‐Kliemchen, Tobias Hagemann, Elena Hantmann, Anna Seidel, Luise Müller, Stephanie Kehr, Cornelia Voigt, Jens‐Uwe Stolzenburg, Jan Halbritter
Publikováno v:
Am. J. Med. Genet. C 190, 279-288 (2022)
Kidney stone disease (KSD) is a prevalent condition associated with high morbidity, frequent recurrence, and progression to chronic kidney disease (CKD). The etiology is multifactorial, depending on environmental and genetic factors. Although monogen
Autor:
Ria Schönauer, Wenjun Jin, Christin Findeisen, Irene Valenzuela, Laura Alice Devlin, Jill Murrell, Emma C. Bedoukian, Linda Pöschla, Elena Hantmann, Korbinian M. Riedhammer, Julia Hoefele, Konrad Platzer, Ronald Biemann, Philipp M. Campeau, Johannes Münch, Henrike Heyne, Anne Hoffmann, Adhideb Ghosh, Wenfei Sun, Hua Dong, Falko Noé, Christian Wolfrum, Emily Woods, Michael J. Parker, Ruxandra Neatu, Gwenael Le Guyader, Ange-Line Bruel, Laurence Perrin, Helena Spiewak, Isabelle Missotte, Melanie Fourgeaud, Vincent Michaud, Didier Lacombe, Sarah A. Paolucci, Jillian G. Buchan, Margaret Glissmeyer, Bernt Popp, Matthias Blüher, John A. Sayer, Jan Halbritter
Publikováno v:
The American Journal of Human Genetics.