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gene-mutations
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Ing. Kateřina Hodaňová Ph.D.
Academic staff at First Faculty of Medicine
48 publications
Publications
publication
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
2016 |
First Faculty of Medicine
publication
Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone.
2010 |
First Faculty of Medicine
publication
Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure
2009 |
First Faculty of Medicine
publication
Analysis of the (-Glucocerebrosidase Gene in Czech and slovak Gaucher Patients: Mutation Profile and Description of Six Novel Mutant Alleles.
1999 |
Faculty of Physical Education and Sport
publication
Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD
2023 |
First Faculty of Medicine
publication
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis
2022 |
First Faculty of Medicine, Third Faculty of Medicine
publication
AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?
2022 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin
2022 |
First Faculty of Medicine
publication
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations
2021 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Mitochondriopathy Manifesting as Inherited Tubulointerstitial Nephropathy Without Symptomatic Other Organ Involvement
2021 |
First Faculty of Medicine
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