Found: 22
Select item for more details and to access through your institution.
UMOD and the architecture of kidney disease.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2022, v. 474, n. 8, p. 771, doi. 10.1007/s00424-022-02733-4
- By:
- Publication type:
- Article
UMOD and you! Explaining a rare disease diagnosis.
- Published in:
- Journal of Rare Diseases, 2022, v. 1, n. 1, p. 1, doi. 10.1007/s44162-022-00005-4
- By:
- Publication type:
- Article
Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease.
- Published in:
- EMBO Molecular Medicine, 2023, v. 15, n. 12, p. 1, doi. 10.15252/emmm.202318242
- By:
- Publication type:
- Article
Prevalence and characteristics of genetic disease in adult kidney stone formers.
- Published in:
- Nephrology Dialysis Transplantation, 2024, v. 39, n. 9, p. 1426, doi. 10.1093/ndt/gfae074
- By:
- Publication type:
- Article
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease.
- Published in:
- Nephrology Dialysis Transplantation, 2023, v. 38, n. 2, p. 271, doi. 10.1093/ndt/gfab268
- By:
- Publication type:
- Article
The cryo-EM structure of the human uromodulin filament core reveals a unique assembly mechanism.
- Published in:
- eLife, 2020, p. 1, doi. 10.7554/eLife.60265
- By:
- Publication type:
- Article
The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.08887
- By:
- Publication type:
- Article
Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1603
- By:
- Publication type:
- Article
Biallelic variants in TTC21B as a rare cause of early‐onset arterial hypertension and tubuloglomerular kidney disease.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 109, doi. 10.1002/ajmg.c.31964
- By:
- Publication type:
- Article
Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2017, v. 469, n. 1, p. 91, doi. 10.1007/s00424-016-1913-7
- By:
- Publication type:
- Article
The Urinary Excretion of Uromodulin is Regulated by the Potassium Channel ROMK.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-55771-x
- By:
- Publication type:
- Article
Hepsin-mediated Processing of Uromodulin is Crucial for Salt-sensitivity and Thick Ascending Limb Homeostasis.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-48300-3
- By:
- Publication type:
- Article
Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 3, p. 330, doi. 10.1111/cge.14251
- By:
- Publication type:
- Article
Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data.
- Published in:
- Annals of Human Genetics, 2024, v. 88, n. 1, p. 76, doi. 10.1111/ahg.12508
- By:
- Publication type:
- Article
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants.
- Published in:
- Annals of Human Genetics, 2022, v. 86, n. 3, p. 145, doi. 10.1111/ahg.12454
- By:
- Publication type:
- Article
Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.
- Published in:
- Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab163
- By:
- Publication type:
- Article
Molecular genetics of renal ciliopathies.
- Published in:
- Biochemical Society Transactions, 2021, v. 49, n. 3, p. 1205, doi. 10.1042/BST20200791
- By:
- Publication type:
- Article
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.
- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1221, doi. 10.1002/humu.24251
- By:
- Publication type:
- Article
A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Paradoxical response to furosemide in uromodulin-associated kidney disease.
- Published in:
- Nephrology Dialysis Transplantation, 2015, v. 30, n. 2, p. 330, doi. 10.1093/ndt/gfu389
- By:
- Publication type:
- Article
Parvalbumin: calcium and magnesium buffering in the distal nephron.
- Published in:
- Nephrology Dialysis Transplantation, 2012, v. 27, n. 11, p. 3988, doi. 10.1093/ndt/gfs457
- By:
- Publication type:
- Article
Routine Urinary Biochemistry Does Not Accurately Predict Stone Type Nor Recurrence in Kidney Stone Formers: A Multicentre, Multimodel, Externally Validated Machine-Learning Study.
- Published in:
- Journal of Endourology, 2023, v. 37, n. 12, p. 1295, doi. 10.1089/end.2023.0451
- By:
- Publication type:
- Article