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Martina Živná
Observed names:
M. Zivna,
M. Zivná,
M. Živná,
M., Živná,
Martina Zivna,
Zivna M,
Zivna, Martina,
ŽivnÁ, Martina,
Živná, M.,
Živná, Martina
show all 10
Institutions:
Charles University,
General University Hospital in Prague,
Wake Forest University Health Sciences,
Wake Forest University
Observed institutions:
Atrium Health Wake Forest Baptist,
Charles University,
General University Hospital in Prague,
Centre for Applied Genomics,
Wake Forest University Health Sciences,
Wake Forest University
show all 6
ORCID:
0000-0003-1968-824X
Observed ORCID:
0000-0003-1968-824X
OpenAlex ID:
A5005949029
Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy
2019
·
Moran Dvela-Levitt
, Maria Kost-Alimova
, et al.
·
Cell
·
205
PDF
Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure
2009
·
Martina Živná
, Helena Hůlková
, et al.
·
The American Journal of Human Genetics
·
164
PDF
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
2016
·
Nikhita Ajit Bolar
, Christelle Golzio
, et al.
·
The American Journal of Human Genetics
·
162
PDF
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1
2020
·
Eric Olinger
, Patrick Hofmann
, et al.
·
Kidney International
·
148
PDF
Autosomal Dominant Tubulointerstitial Kidney Disease
2017
·
Anthony J. Bleyer
, Kendrah Kidd
, et al.
·
Advances in Chronic Kidney Disease
·
82
Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1
2014
·
Anthony J. Bleyer
, Stanislav Kmoch
, et al.
·
Clinical Journal of the American Society of Nephrology
·
81
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6
2016
·
Hana Hartmannová
, Lenka Piherová
, et al.
·
Human Molecular Genetics
·
80
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease
2018
·
Christine Gast
, Anthony Marinaki
, et al.
·
BMC Nephrology
·
68
PDF
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease
2018
·
Martina Živná
, Kendrah Kidd
, et al.
·
Journal of the American Society of Nephrology
·
57
PDF
Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone
2010
·
A.J. Bleyer
, M. Zivná
, et al.
·
Clinical Nephrology
·
55
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to mutations identifies distinct clinical subtypes
2020
·
Martina Živná
, Kendrah Kidd
, et al.
·
Kidney International
·
50
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations
2020
·
Kendrah Kidd
, Petr Vylet’al
, et al.
·
Kidney International Reports
·
50
PDF
Uromodulin-Associated Kidney Disease
2010
·
Anthony J. Bleyer
, Martina Živná
, et al.
·
Nephron Clinical Practice
·
47
Autosomal dominant tubulointerstitial kidney disease: A review
2022
·
Martina Živná
, Kendrah O. Kidd
, et al.
·
American Journal of Medical Genetics Part C Seminars in Medical Genetics
·
42
PDF
The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project
2022
·
Elhussein A. E. Elhassan
, Susan L. Murray
, et al.
·
Journal of Nephrology
·
40
PDF
Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland
2019
·
S. Cormican
, D. M. Connaughton
, et al.
·
Renal Failure
·
28
PDF
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy
2008
·
P. Vylet'al
, H. Hůlková
, et al.
·
Journal of Inherited Metabolic Disease
·
28
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis
2021
·
Jakub Sikora
, Tereza Kmochová
, et al.
·
Kidney International
·
26
Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β
2021
·
Anthony J. Bleyer
, Matthias T. Wolf
, et al.
·
Pediatric Nephrology
·
23
Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females
2018
·
Marie Zikánová
, Dawn Wahezi
, et al.
·
Lara D. Veeken
·
23
Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptors
2024
·
Silvana Bazua-Valenti
, Matthew R. Brown
, et al.
·
Journal of Clinical Investigation
·
22
Misprocessing of α-Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response
2024
·
Martina Živná
, Gabriela Dostálová
, et al.
·
Journal of the American Society of Nephrology
·
21
Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation
2017
·
Samuel Mon-Wei Yu
, Anthony J. Bleyer
, et al.
·
American Journal of Kidney Diseases
·
21
Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases
2019
·
Anthony J. Bleyer
, Anthony J. Bleyer
, et al.
·
Genetics in Medicine
·
19
PDF
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis
2023
·
Tereza Kmochová
, Kendrah O. Kidd
, et al.
·
Kidney International
·
18
PDF
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Works count:
91
Citation count:
1,663
H-index:
21
I10-index:
29
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