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Biomedical Research and Pathophysiology

TopicLeading institutions, researchers & key papers

Biomedical Research and Pathophysiology is a topic indexed in ScholarIQ from OpenAlex.

What is known about Biomedical Research and Pathophysiology?

ScholarIQrecord summary

This cluster of papers focuses on nephropathic cystinosis, a rare genetic lysosomal storage disorder. The research covers various aspects including the pathogenesis, treatment with cysteamine therapy, complications in multiple organs (especially renal and ocular), molecular genetics involving CTNS gene mutations, and the impact on cellular processes such as autophagy and mitochondrial function.

How many works does Biomedical Research and Pathophysiology have?

ScholarIQindexed works

Biomedical Research and Pathophysiology has 125 works in the ScholarIQ index. The count is the OpenAlex total, not the number of papers listed on this page.

What is the OpenAlex record for Biomedical Research and Pathophysiology?

ScholarIQopenalex

The OpenAlex for Biomedical Research and Pathophysiology is on the source record.

What are the most-cited papers on Biomedical Research and Pathophysiology?

ScholarIQmost cited works
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
Margaret Town, G Jean, Stéphanie Cherqui, Marlene Attard, Lionel Forestier, S.A. Whitmore, David F. Callen, Olivier Gribouval, M. Broyer, Gillian P. Bates, William van’t Hoff, Corinne Antignac
Nature Genetics. 1998644 Citations
Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study
Mieke Aldenhoven, Robert Wynn, Paul J. Orchard, Anne O’Meara, Paul Veys, Alain Fischer, Vassili Valayannopoulos, Bénédicte Neven, Attilio Rovelli, Vinod K. Prasad, Jakub Tolar, Heather Allewelt, Simon Jones, Rossella Parini, Marleen Renard, Victoria Bordon, Nico Wulffraat, Tom J. de Koning, Elsa Shapiro, Joanne Kurtzberg, Jaap Jan Boelens
Blood. 2015318 CitationsOPEN ACCESS
Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Lipocalin 2
Khalil El Karoui, Amandine Viau, Olivier Dellis, Alessia Bagattin, Clément Nguyen, William Baron, Martine Burtin, Mélanie Broueilh, Laurence Heidet, Géraldine Mollet, Anne Druilhe, Corinne Antignac, Bertrand Knebelmann, Gérard Friedlander, Frank Bienaimé, Morgan Gallazzini, Fabiola Terzi
Nature Communications. 2016121 CitationsOPEN ACCESS
Ophthalmic Manifestations and Histopathology of Infantile Nephropathic Cystinosis: Report of a Case and Review of the Literature
Ekaterini Tsilou, Min Zhou, William A. Gahl, Pamela C. Sieving, Chi‐Chao Chan
Survey of Ophthalmology. 2007108 CitationsOPEN ACCESS
Urinary enzymes in acute renal failure
S. L. Chew, R. Lins, R. Daelemans, G. Nuyts, Marc E. De Broe
Nephrology Dialysis Transplantation. 1993100 Citations

Where is Biomedical Research and Pathophysiology research published, and who funds it?

ScholarIQvenues & funding sources

TOP FUNDERS

National Science Foundation—
NIH—
Wellcome Trust—
European Research Council—
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How much of the research on Biomedical Research and Pathophysiology is open access?

ScholarIQopen access share
70%OPEN ACCESS
Gold
20%
Green
10%
Hybrid
20%
Bronze
20%
Closed
30%

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