Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Elena, Hantmann"'
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
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.
Autor:
Friederike Petzold, Wenjun Jin, Elena Hantmann, Katharina Korbach, Ria Schönauer, Jan Halbritter
Publikováno v:
Clinical Kidney Journal. 15:1333-1339
Background Congenital abnormalities of the kidney and urinary tract (CAKUT) are characterized by vast phenotypic heterogeneity and incomplete penetrance. Although CAKUT represent the main cause of pediatric chronic kidney disease, only ∼20% can be
Autor:
Johannes Münch, Marie Engesser, Ria Schönauer, J. Austin Hamm, Christin Hartig, Elena Hantmann, Gulsen Akay, Davut Pehlivan, Tadahiro Mitani, Zeynep Coban Akdemir, Beyhan Tüysüz, Toshihiko Shirakawa, Sumito Dateki, Laura R. Claus, Albertien M. van Eerde, Thomas Smol, Louise Devisme, Hélène Franquet, Tania Attié-Bitach, Timo Wagner, Carsten Bergmann, Anne Kathrin Höhn, Shirlee Shril, Ari Pollack, Tara Wenger, Abbey A. Scott, Sarah Paolucci, Jillian Buchan, George C. Gabriel, Jennifer E. Posey, James R. Lupski, Florence Petit, Andrew A. McCarthy, Gregory J. Pazour, Cecilia W. Lo, Bernt Popp, Jan Halbritter
Publikováno v:
Kidney Int
Congenital anomalies of the kidney and urinary tract (CAKUT) represent the most common cause of chronic kidney failure in children. Despite growing knowledge of the genetic causes of CAKUT, the majority of cases remain etiologically unsolved. Genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34b0ecdf2801d041ca44522885ccc64b
https://europepmc.org/articles/PMC10010616/
https://europepmc.org/articles/PMC10010616/
Autor:
Elena Hantmann, Jan Halbritter, Richard Sandford, Melanie Nemitz-Kliemchen, Friedhelm Hildebrandt, Anna Seidel, Ria Schönauer, Nydia Panitz, Daniela A. Braun, Khurrum Shahzad, Matthias Hansen, Wenjun Jin, Anastasia Ertel, Sophie Saunier, Carsten Bergmann, Shirlee Shril, Alexandre Benmerah
Publikováno v:
Kidney Int
Biallelic mutations in MAPKBP1 were recently associated with late-onset cilia-independent nephronophthisis. MAPKBP1 was found at mitotic spindle poles but could not be detected at primary cilia or centrosomes. Here, by identification and characteriza
Autor:
Friederike, Petzold, Wenjun, Jin, Elena, Hantmann, Katharina, Korbach, Ria, Schönauer, Jan, Halbritter
Publikováno v:
Clinical kidney journal. 15(7)
Congenital abnormalities of the kidney and urinary tract (CAKUT) are characterized by vast phenotypic heterogeneity and incomplete penetrance. Although CAKUT represent the main cause of pediatric chronic kidney disease, only ∼20% can be explained b
Autor:
John A. Sayer, Ria Schönauer, Jan Halbritter, Ryuichi Ohgaki, Soumeya Bekri, Bertrand Knebelmann, Anna Seidel, Linda Pöschla, Elena Hantmann
Publikováno v:
Nephrology Dialysis Transplantation. 36
Background and Aims Cystinuria (CU) is an inherited renal disorder based on urinary wasting of dibasic amino acids, urinary precipitation, and consecutive cystine stone formation. It is caused by pathogenic variants in two distinct disease genes, SLC
Autor:
Elena Hantmann, Ria Schönauer, Anastasia Ertel, Wenjun Jin, Jan Halbritter, Sebastian Sewerin, Christin Hartig, Alexandre Benmerah, Sophie Saunier
Publikováno v:
Nephrology Dialysis Transplantation. 36
Background and Aims Nephronophthisis is an autosomal-recessive kidney disease that accounts for a significant proportion of end-stage renal disease (ESRD) in childhood, adolescence and early adulthood. Biallelic pathogenic variants in MAPKBP1, encodi