Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome

Autor: Helou, J, Otto, Ea, Attanasio, M, Allen, Sj, Parisi, Ma, Glass, I, Utsch, B, Hashmi, S, Fazzi, Elisa Maria, Omran, H, O'Toole, Jf, Sayer, Ja, Hildebrandt, F.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3662::8b2d15c221c84fb24aa2396804bc2a24
http://hdl.handle.net/11379/19491

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Protein N-glycans in Healthy and Sclerotic Glomeruli in Diabetic Kidney Disease.

Autor: Veličković D; Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, Washington., Shapiro JP; Department of Nephrology, The Ohio State University, Wexner Medical Center, Columbus, Ohio., Parikh SV; Department of Nephrology, The Ohio State University, Wexner Medical Center, Columbus, Ohio., Rovin B; Department of Nephrology, The Ohio State University, Wexner Medical Center, Columbus, Ohio., Toto RD; Division of Nephrology, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas., Vazquez MA; Division of Nephrology, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas., Poggio ED; Department of Nephrology and Hypertension, Cleveland Clinic, Cleveland, Ohio., O'Toole JF; Department of Nephrology and Hypertension, Cleveland Clinic, Cleveland, Ohio., Sedor JR; Department of Nephrology and Hypertension, Cleveland Clinic, Cleveland, Ohio., Alexandrov T; Structural and Computational Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany.; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory, Heidelberg, Germany.; BioStudio, BioInnovation Institute, Copenhagen, Denmark., Jain S; Department of Medicine, Washington University School of Medicine, St. Louis., Bitzer M; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan., Hodgin J; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan., Veličković M; Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, Washington., Sharma K; Division of Nephrology, Department of Medicine, University of Texas Health San Antonio, San Antonio, Texas., Anderton CR; Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, Washington.; Division of Nephrology, Department of Medicine, University of Texas Health San Antonio, San Antonio, Texas.

Publikováno v: Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2024 May 21. Date of Electronic Publication: 2024 May 21.

T-cell receptor diversity in minimal change disease in the NEPTUNE study.

Autor: Liu S; Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.; Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA., Bush WS; Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.; Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA., Miskimen K; Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.; Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA., Gonzalez-Vicente A; Glickman Urological and Kidney Disease and Lerner Research Institutes, Cleveland Clinic, Cleveland, OH, USA., Bailey JNC; Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.; Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA., Konidari I; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA., McCauley JL; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA., Sedor JR; Glickman Urological and Kidney Disease and Lerner Research Institutes, Cleveland Clinic, Cleveland, OH, USA., O'Toole JF; Glickman Urological and Kidney Disease and Lerner Research Institutes, Cleveland Clinic, Cleveland, OH, USA., Crawford DC; Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA. dana.crawford@case.edu.; Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA. dana.crawford@case.edu.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA. dana.crawford@case.edu.

Publikováno v: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2023 Apr; Vol. 38 (4), pp. 1115-1126. Date of Electronic Publication: 2022 Aug 09.

Essential role of Wtip in mouse development and maintenance of the glomerular filtration barrier.

Autor: Madhavan SM; Department of Medicine, The Ohio State University, Columbus, Ohio., Konieczkowski M; MetroHealth Medical Center, Cleveland, Ohio., Bruggeman LA; Department of Inflammation and Immunity, Cleveland Clinic, Cleveland, Ohio.; Department of Nephrology, Cleveland Clinic, Cleveland, Ohio., DeWalt M; Department of Medicine, The Ohio State University, Columbus, Ohio., Nguyen JK; Department of Pathology, Cleveland Clinic, Cleveland, Ohio., O'Toole JF; Department of Inflammation and Immunity, Cleveland Clinic, Cleveland, Ohio.; Department of Nephrology, Cleveland Clinic, Cleveland, Ohio., Sedor JR; Department of Inflammation and Immunity, Cleveland Clinic, Cleveland, Ohio.; Department of Nephrology, Cleveland Clinic, Cleveland, Ohio.; Department of Physiology and Biophysics, Case Western Reserve University School of Medicine, Cleveland, Ohio.

Publikováno v: American journal of physiology. Renal physiology [Am J Physiol Renal Physiol] 2022 Sep 01; Vol. 323 (3), pp. F272-F287. Date of Electronic Publication: 2022 Jul 21.