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Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21.
- Published in:
- Human Genetics, 2011, v. 129, n. 1, p. 51, doi. 10.1007/s00439-010-0897-1
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- Publication type:
- Article
Transcriptional regulation of proximal tubular metabolism in acute kidney injury.
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- Pediatric Nephrology, 2023, v. 38, n. 4, p. 975, doi. 10.1007/s00467-022-05748-2
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- Article
Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway.
- Published in:
- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0167916
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- Article
Roles of Krüppel-Like Transcription Factors KLF6 and KLF15 in Proximal Tubular Metabolism.
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- Nephron, 2023, v. 147, n. 12, p. 766, doi. 10.1159/000531336
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- Article
Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis.
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- Journal of Bone & Mineral Research, 2019, v. 34, n. 7, p. 1324, doi. 10.1002/jbmr.3695
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- Article
An N‐Ethyl‐N‐Nitrosourea (ENU)‐Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice.
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- Journal of Bone & Mineral Research, 2019, v. 34, n. 3, p. 497, doi. 10.1002/jbmr.3624
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- Publication type:
- Article
Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).
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- Journal of Bone & Mineral Research, 2016, v. 31, n. 6, p. 1207, doi. 10.1002/jbmr.2797
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- Publication type:
- Article
Podocyte-Specific Loss of Krüppel-Like Factor 6 Increases Mitochondrial Injury in Diabetic Kidney Disease.
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- 2018
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- Publication type:
- journal article
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
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- Human Molecular Genetics, 2010, v. 19, n. 10, p. 2028, doi. 10.1093/hmg/ddq084
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- Publication type:
- Article
Autosomal Dominant Hypercalciuria in a Mouse Model Due to a Mutation of the Epithelial Calcium Channel, TRPV5.
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- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0055412
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- Publication type:
- Article
A Mouse Model of Early-Onset Renal Failure Due to a Xanthine Dehydrogenase Nonsense Mutation.
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- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045217
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- Publication type:
- Article
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2988, doi. 10.1002/ajmg.a.37755
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- Publication type:
- Article
Endotoxemia Correlates with Kidney Function and Length of Stay in Critically Ill Patients.
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- Blood Purification, 2024, v. 53, n. 1, p. 30, doi. 10.1159/000534107
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- Publication type:
- Article