UMOD and the architecture of kidney disease

por Devuyst, Olivier, Bochud, Murielle, Olinger, Eric
Publicado 2022

UMOD and you! Explaining a rare disease diagnosis

por Mabillard, Holly, Olinger, Eric, Sayer, John A.
Publicado 2022

Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease

por Mabillard, Holly, Sayer, John A, Olinger, Eric
Publicado 2021

Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping thera...

por Barroso‐Gil, Miguel, Olinger, Eric, Ramsbottom, Simon A., Molinari, Elisa, Miles, Colin G., Sayer, John A.
Publicado 2021

The Urinary Excretion of Uromodulin is Regulated by the Potassium Channel ROMK

por Schiano, Guglielmo, Glaudemans, Bob, Olinger, Eric, Goelz, Nadine, Müller, Michael, Loffing-Cueni, Dominique, Deschenes, Georges, Loffing, Johannes, Devuyst, Olivier
Publicado 2019

The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients

por Al Alawi, Intisar, Al Riyami, Mohammed, Barroso-Gil, Miguel, Powell, Laura, Olinger, Eric, Al Salmi, Issa, Sayer, John A.
Publicado 2021

Biallelic variants in TTC21B as a rare cause of early‐onset arterial hypertension and tubuloglomerular kidney disease

por Olinger, Eric, Phakdeekitcharoen, Pran, Caliskan, Yasar, Orr, Sarah, Mabillard, Holly, Pickles, Charles, Tse, Yincent, Wood, Katrina, Sayer, John A.
Publicado 2022

A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion

por Edwards, Noel, Olinger, Eric, Adam, Jennifer, Kelly, Michael, Schiano, Guglielmo, Ramsbottom, Simon A, Sandford, Richard, Devuyst, Olivier, Sayer, John A
Publicado 2017

The cryo-EM structure of the human uromodulin filament core reveals a unique assembly mechanism

por Stanisich, Jessica J, Zyla, Dawid S, Afanasyev, Pavel, Xu, Jingwei, Kipp, Anne, Olinger, Eric, Devuyst, Olivier, Pilhofer, Martin, Boehringer, Daniel, Glockshuber, Rudi
Publicado 2020

Hepsin-mediated Processing of Uromodulin is Crucial for Salt-sensitivity and Thick Ascending Limb Homeostasis

por Olinger, Eric, Lake, Jennifer, Sheehan, Susan, Schiano, Guglielmo, Takata, Tomoaki, Tokonami, Natsuko, Debaix, Huguette, Consolato, Francesco, Rampoldi, Luca, Korstanje, Ron, Devuyst, Olivier
Publicado 2019

Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome

por Geraghty, Robert M., Orr, Sarah, Olinger, Eric, Neatu, Ruxandra, Barroso-Gil, Miguel, Mabillard, Holly, Consortium, Genomics England Research, Wilson, Ian, Sayer, John A.
Publicado 2023

A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress

por Piret, Sian E., Olinger, Eric, Reed, Anita A. C., Nesbit, M. Andrew, Hough, Tertius A., Bentley, Liz, Devuyst, Olivier, Cox, Roger D., Thakker, Rajesh V.
Publicado 2017

The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin

por Brunati, Martina, Perucca, Simone, Han, Ling, Cattaneo, Angela, Consolato, Francesco, Andolfo, Annapaola, Schaeffer, Céline, Olinger, Eric, Peng, Jianhao, Santambrogio, Sara, Perrier, Romain, Li, Shuo, Bokhove, Marcel, Bachi, Angela, Hummler, Edith, Devuyst, Olivier, Wu, Qingyu, Jovine, Luca, Rampoldi, Luca
Publicado 2015

Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome

por Powell, Laura, Olinger, Eric, Wedderburn, Sarah, Ramakumaran, Vijayalakshmi Salem, Kini, Usha, Clayton-Smith, Jill, Ramsden, Simon C, Rice, Sarah J, Barroso-Gil, Miguel, Wilson, Ian, Cowley, Lorraine, Johnson, Sally, Harris, Elizabeth, Montgomery, Tara, Bertoli, Marta, Boltshauser, Eugen, Sayer, John A
Publicado 2021

Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome

por Devlin, Laura A., Coles, Janice, Jackson, Claire L., Barroso‐Gil, Miguel, Green, Ben, Walker, Woolf T., Thomas, N. Simon, Thompson, James, Rock, Simon A., Neatu, Ruxandra, Powell, Laura, Molinari, Elisa, Wilson, Ian J., Cordell, Heather J., Olinger, Eric, Miles, Colin G., Sayer, John A., Wheway, Gabrielle, Lucas, Jane S.
Publicado 2022

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease

por Olinger, Eric, Schaeffer, Céline, Kidd, Kendrah, Elhassan, Elhussein A. E., Cheng, Yurong, Dufour, Inès, Schiano, Guglielmo, Mabillard, Holly, Pasqualetto, Elena, Hofmann, Patrick, Fuster, Daniel G., Kistler, Andreas D., Wilson, Ian J., Kmoch, Stanislav, Raymond, Laure, Robert, Thomas, Eckardt, Kai-Uwe, Bleyer, Anthony J., Köttgen, Anna, Conlon, Peter J., Wiesener, Michael, Sayer, John A., Rampoldi, Luca, Devuyst, Olivier
Publicado 2022

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations

por Devane, John, Ott, Elisabeth, Olinger, Eric G., Epting, Daniel, Decker, Eva, Friedrich, Anja, Bachmann, Nadine, Renschler, Gina, Eisenberger, Tobias, Briem-Richter, Andrea, Grabhorn, Enke Freya, Powell, Laura, Wilson, Ian J., Rice, Sarah J., Miles, Colin G., Wood, Katrina, Trivedi, Palak, Hirschfield, Gideon, Pietrobattista, Andrea, Wohler, Elizabeth, Mezina, Anya, Sobreira, Nara, Agolini, Emanuele, Maggiore, Giuseppe, Dahmer-Heath, Mareike, Yilmaz, Ali, Boerries, Melanie, Metzger, Patrick, Schell, Christoph, Grünewald, Inga, Konrad, Martin, König, Jens, Schlevogt, Bernhard, Sayer, John A., Bergmann, Carsten
Publicado 2022

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

por Kidd, Kendrah, Vylet’al, Petr, Schaeffer, Céline, Olinger, Eric, Živná, Martina, Hodaňová, Kateřina, Robins, Victoria, Johnson, Emily, Taylor, Abbigail, Martin, Lauren, Izzi, Claudia, Jorge, Sofia C., Calado, Joaquim, Torres, Rosa J., Lhotta, Karl, Steubl, Dominik, Gale, Daniel P., Gast, Christine, Gombos, Eva, Ainsworth, Hannah C., Chen, Ying Maggie, Almeida, Jorge Reis, de Souza, Cintia Fernandes, Silveira, Catarina, Raposeiro, Rita, Weller, Nelson, Conlon, Peter J., Murray, Susan L., Benson, Katherine A., Cavalleri, Gianpiero L., Votruba, Miroslav, Vrbacká, Alena, Amoroso, Antonio, Gianchino, Daniela, Caridi, Gianluca, Ghiggeri, Gian Marco, Divers, Jasmin, Scolari, Francesco, Devuyst, Olivier, Rampoldi, Luca, Kmoch, Stanislav, Bleyer, Anthony J.
Publicado 2020