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Journal of Inherited Metabolic Disease
|
June 11, 2025
A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT
Luana Ruta, Andrea G Cogal, Gioena Pampalone, et al.
The Journal of Biological Chemistry
|
December 20, 2019
Cl<sup>-</sup> and H<sup>+</sup> coupling properties and subcellular localizations of wildtype and disease-associated variants of the voltage-gated Cl<sup>-</sup>/H<sup>+</sup> exchanger ClC-5
Min-Hwang Chang, Matthew R Brown, Yiran Liu, et al.
Journal of the American Society of Nephrology : JASN
|
August 24, 2018
Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing
Matthew B Lanktree, Amirreza Haghighi, Elsa Guiard, et al.
Journal of the American Society of Nephrology : JASN
|
April 5, 2014
Phosphodiesterase 1A modulates cystogenesis in zebrafish
Caroline R Sussman, Christopher J Ward, Amanda C Leightner, et al.
Biorxiv : the Preprint Server for Biology
|
June 12, 2025
Induced Proteinuria Enhances Adeno-Associated Virus Transduction of Renal Tubule Epithelial Cells After Intravenous Administration
Jeffrey D Rubin, Katayoun Ayasoufi, Erin B McGlinch, et al.
American Journal of Physiology. Renal Physiology
|
November 9, 2006
Human ADPKD primary cyst epithelial cells with a novel, single codon deletion in the PKD1 gene exhibit defective ciliary polycystin localization and loss of flow-induced Ca2+ signaling
Chang Xu, Sandro Rossetti, Lianwei Jiang, et al.
Circulation Research
|
March 26, 2005
[Ca2+]i reduction increases cellular proliferation and apoptosis in vascular smooth muscle cells: relevance to the ADPKD phenotype
Sertac N Kip, Larry W Hunter, Qun Ren, et al.
Strategies in Trauma and Limb Reconstruction
|
September 17, 2018
Effect of external fixation rod coupling in computed tomography
Carlos A Peña-Solórzano, Matthew R Dimmock, David W Albrecht, et al.
Science Advances
|
June 24, 2021
Ciliopathy protein HYLS1 coordinates the biogenesis and signaling of primary cilia by activating the ciliary lipid kinase PIPKIγ
Chuan Chen, Qingwen Xu, Yuxia Zhang, et al.
Clinical Kidney Journal
|
November 10, 2021
Functional megalin is expressed in renal cysts in a mouse model of adult polycystic kidney disease
Marlene L Nielsen, Mia C Mundt, Dorte L Lildballe, et al.
Page
of 32
Search research articles
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Showing results (101-110 of 314) with videos related to
Sort By:
Page
of 32
Journal of Inherited Metabolic Disease
|
June 11, 2025
A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT
Luana Ruta, Andrea G Cogal, Gioena Pampalone, et al.
The Journal of Biological Chemistry
|
December 20, 2019
Cl<sup>-</sup> and H<sup>+</sup> coupling properties and subcellular localizations of wildtype and disease-associated variants of the voltage-gated Cl<sup>-</sup>/H<sup>+</sup> exchanger ClC-5
Min-Hwang Chang, Matthew R Brown, Yiran Liu, et al.
Journal of the American Society of Nephrology : JASN
|
August 24, 2018
Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing
Matthew B Lanktree, Amirreza Haghighi, Elsa Guiard, et al.
Journal of the American Society of Nephrology : JASN
|
April 5, 2014
Phosphodiesterase 1A modulates cystogenesis in zebrafish
Caroline R Sussman, Christopher J Ward, Amanda C Leightner, et al.
Biorxiv : the Preprint Server for Biology
|
June 12, 2025
Induced Proteinuria Enhances Adeno-Associated Virus Transduction of Renal Tubule Epithelial Cells After Intravenous Administration
Jeffrey D Rubin, Katayoun Ayasoufi, Erin B McGlinch, et al.
American Journal of Physiology. Renal Physiology
|
November 9, 2006
Human ADPKD primary cyst epithelial cells with a novel, single codon deletion in the PKD1 gene exhibit defective ciliary polycystin localization and loss of flow-induced Ca2+ signaling
Chang Xu, Sandro Rossetti, Lianwei Jiang, et al.
Circulation Research
|
March 26, 2005
[Ca2+]i reduction increases cellular proliferation and apoptosis in vascular smooth muscle cells: relevance to the ADPKD phenotype
Sertac N Kip, Larry W Hunter, Qun Ren, et al.
Strategies in Trauma and Limb Reconstruction
|
September 17, 2018
Effect of external fixation rod coupling in computed tomography
Carlos A Peña-Solórzano, Matthew R Dimmock, David W Albrecht, et al.
Science Advances
|
June 24, 2021
Ciliopathy protein HYLS1 coordinates the biogenesis and signaling of primary cilia by activating the ciliary lipid kinase PIPKIγ
Chuan Chen, Qingwen Xu, Yuxia Zhang, et al.
Clinical Kidney Journal
|
November 10, 2021
Functional megalin is expressed in renal cysts in a mouse model of adult polycystic kidney disease
Marlene L Nielsen, Mia C Mundt, Dorte L Lildballe, et al.
Page
of 32