kidney disease

Literature (19)

Literature for DOID 557: kidney disease

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

:
(

Denotes literature images)

The residues determining differences in ion affinities among the alternative splice variants F, A, and B of the mammalian renal Na-K-Cl cotransporter (NKCC2)., Giménez I,Forbush B, J Biol Chem. March 2, 2007; 282(9):1083-351X.
Organization of the pronephric kidney revealed by large-scale gene expression mapping., Raciti D,Reggiani L,Geffers L,Jiang Q,Bacchion F,Subrizi AE,Clements D,Tindal C,Davidson DR,Kaissling B,Brändli AW, Genome Biol. January 1, 2008; 9(5):1474-760X.
Functional and structural characterization of PKA-mediated pHi gating of ROMK1 channels., Lee CH,Lee CH,Lee CH,Huang PT,Lou KL,Liou HH, J Mol Graph Model. October 1, 2008; 27(3):1873-4243.
Genetic and physical interaction between the NPHP5 and NPHP6 gene products., Schäfer T,Pütz M,Lienkamp S,Ganner A,Bergbreiter A,Ramachandran H,Gieloff V,Gerner M,Mattonet C,Czarnecki PG,Sayer JA,Otto EA,Hildebrandt F,Kramer-Zucker A,Walz G, Hum Mol Genet. December 1, 2008; 17(23):1460-2083.
The miR-30 miRNA family regulates Xenopus pronephros development and targets the transcription factor Xlim1/Lhx1., Agrawal R,Tran U,Wessely O, Development. December 1, 2009; 136(23):1477-9129.
Functional and developmental expression of a zebrafish Kir1.1 (ROMK) potassium channel homologue Kcnj1., Abbas L,Hajihashemi S,Stead LF,Cooper GJ,Ware TL,Munsey TS,Whitfield TT,White SJ, J Physiol. March 15, 2011; 589(Pt 6):0022-3751.
Mammalian tribbles homologs at the crossroads of endoplasmic reticulum stress and Mammalian target of rapamycin pathways., Cunard R, Scientifica (Cairo). January 1, 2013; 2013:2090-908X.
Using Xenopus to understand human disease and developmental disorders., Sater AK,Moody SA, Genesis. January 1, 2017; 55(1-2):1526-968X.
Toolbox in a tadpole: Xenopus for kidney research., Getwan M,Lienkamp SS, Cell Tissue Res. July 1, 2017; 369(1):1432-0878.
A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification., Bignon Y,Alekov A,Frachon N,Lahuna O,Jean-Baptiste Doh-Egueli C,Deschênes G,Vargas-Poussou R,Lourdel S, Hum Mutat. August 1, 2018; 39(8):1098-1004.
CRISPR/Cas9 disease models in zebrafish and Xenopus: The genetic renaissance of fish and frogs., Naert T,Vleminckx K,Vleminckx K, Drug Discov Today Technol. August 1, 2018; 28:1740-6749.
The neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and control of brain size in Xenopus embryos., Willsey HR,Xu Y,Xu Y,Everitt A,Dea J,Exner CRT,Willsey AJ,State MW,Harland RM, Development. June 22, 2020; 147(21):1477-9129.
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation., Schneider R,Deutsch K,Hoeprich GJ,Marquez J,Hermle T,Braun DA,Seltzsam S,Kitzler TM,Mao Y,Buerger F,Majmundar AJ,Onuchic-Whitford AC,Kolvenbach CM,Schierbaum L,Schneider S,Halawi AA,Nakayama M,Mann N,Connaughton DM,Klämbt V,Wagner M,Riedhammer KM,Renders L,Katsura Y,Thumkeo D,Soliman NA,Mane S,Lifton RP,Shril S,Khokha MK,Hoefele J,Goode BL,Hildebrandt F, Am J Hum Genet. December 3, 2020; 107(6):1537-6605.
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome., Mann N,Mzoughi S,Schneider R,Kühl SJ,Schanze D,Klämbt V,Lovric S,Mao Y,Shi S,Tan W,Kühl M,Onuchic-Whitford AC,Treimer E,Kitzler TM,Kause F,Schumann S,Nakayama M,Buerger F,Shril S,van der Ven AT,Majmundar AJ,Holton KM,Kolb A,Braun DA,Rao J,Jobst-Schwan T,Mildenberger E,Lennert T,Kuechler A,Wieczorek D,Gross O,Ermisch-Omran B,Werberger A,Skalej M,Janecke AR,Soliman NA,Mane SM,Lifton RP,Kadlec J,Guccione E,Schmeisser MJ,Zenker M,Hildebrandt F, J Am Soc Nephrol. March 1, 2021; 32(3):1533-3450.
Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease., Getwan M,Hoppmann A,Schlosser P,Grand K,Song W,Diehl R,Schroda S,Heeg F,Deutsch K,Hildebrandt F,Lausch E,Köttgen A,Lienkamp SS, Proc Natl Acad Sci U S A. September 28, 2021; 118(39):1091-6490.
Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia., Yoon J,Cachau R,David VA,Thompson M,Jung W,Jee SH,Daar IO,Winkler CA,Cho SK, Biomedicines. September 6, 2021; 9(9):2227-9059.
Adrenergic receptor signaling induced by Klf15, a regulator of regeneration enhancer, promotes kidney reconstruction., Suzuki N,Kanai A,Suzuki Y,Ogino H,Ochi H, Proc Natl Acad Sci U S A. August 16, 2022; 119(33):1091-6490.
Hnf1b renal expression directed by a distal enhancer responsive to Pax8., Goea L,Buisson I,Bello V,Eschstruth A,Paces-Fessy M,Le Bouffant R,Chesneau A,Cereghini S,Riou JF,Umbhauer M, Sci Rep. November 19, 2022; 12(1):2045-2322.
Modelling human genetic disorders in Xenopus tropicalis., Willsey HR,Seaby EG,Godwin A,Ennis S,Guille M,Grainger RM, Dis Model Mech. May 1, 2024; 17(5):1754-8411.

The residues determining differences in ion affinities among the alternative splice variants F, A, and B of the mammalian renal Na-K-Cl cotransporter (NKCC2)., Giménez I,Forbush B, J Biol Chem. March 2, 2007; 282(9):1083-351X.

Organization of the pronephric kidney revealed by large-scale gene expression mapping., Raciti D,Reggiani L,Geffers L,Jiang Q,Bacchion F,Subrizi AE,Clements D,Tindal C,Davidson DR,Kaissling B,Brändli AW, Genome Biol. January 1, 2008; 9(5):1474-760X.

Functional and structural characterization of PKA-mediated pHi gating of ROMK1 channels., Lee CH,Lee CH,Lee CH,Huang PT,Lou KL,Liou HH, J Mol Graph Model. October 1, 2008; 27(3):1873-4243.

Genetic and physical interaction between the NPHP5 and NPHP6 gene products., Schäfer T,Pütz M,Lienkamp S,Ganner A,Bergbreiter A,Ramachandran H,Gieloff V,Gerner M,Mattonet C,Czarnecki PG,Sayer JA,Otto EA,Hildebrandt F,Kramer-Zucker A,Walz G, Hum Mol Genet. December 1, 2008; 17(23):1460-2083.

The miR-30 miRNA family regulates Xenopus pronephros development and targets the transcription factor Xlim1/Lhx1., Agrawal R,Tran U,Wessely O, Development. December 1, 2009; 136(23):1477-9129.

Functional and developmental expression of a zebrafish Kir1.1 (ROMK) potassium channel homologue Kcnj1., Abbas L,Hajihashemi S,Stead LF,Cooper GJ,Ware TL,Munsey TS,Whitfield TT,White SJ, J Physiol. March 15, 2011; 589(Pt 6):0022-3751.

Mammalian tribbles homologs at the crossroads of endoplasmic reticulum stress and Mammalian target of rapamycin pathways., Cunard R, Scientifica (Cairo). January 1, 2013; 2013:2090-908X.

Using Xenopus to understand human disease and developmental disorders., Sater AK,Moody SA, Genesis. January 1, 2017; 55(1-2):1526-968X.

Toolbox in a tadpole: Xenopus for kidney research., Getwan M,Lienkamp SS, Cell Tissue Res. July 1, 2017; 369(1):1432-0878.

A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification., Bignon Y,Alekov A,Frachon N,Lahuna O,Jean-Baptiste Doh-Egueli C,Deschênes G,Vargas-Poussou R,Lourdel S, Hum Mutat. August 1, 2018; 39(8):1098-1004.

CRISPR/Cas9 disease models in zebrafish and Xenopus: The genetic renaissance of fish and frogs., Naert T,Vleminckx K,Vleminckx K, Drug Discov Today Technol. August 1, 2018; 28:1740-6749.

The neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and control of brain size in Xenopus embryos., Willsey HR,Xu Y,Xu Y,Everitt A,Dea J,Exner CRT,Willsey AJ,State MW,Harland RM, Development. June 22, 2020; 147(21):1477-9129.

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation., Schneider R,Deutsch K,Hoeprich GJ,Marquez J,Hermle T,Braun DA,Seltzsam S,Kitzler TM,Mao Y,Buerger F,Majmundar AJ,Onuchic-Whitford AC,Kolvenbach CM,Schierbaum L,Schneider S,Halawi AA,Nakayama M,Mann N,Connaughton DM,Klämbt V,Wagner M,Riedhammer KM,Renders L,Katsura Y,Thumkeo D,Soliman NA,Mane S,Lifton RP,Shril S,Khokha MK,Hoefele J,Goode BL,Hildebrandt F, Am J Hum Genet. December 3, 2020; 107(6):1537-6605.

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome., Mann N,Mzoughi S,Schneider R,Kühl SJ,Schanze D,Klämbt V,Lovric S,Mao Y,Shi S,Tan W,Kühl M,Onuchic-Whitford AC,Treimer E,Kitzler TM,Kause F,Schumann S,Nakayama M,Buerger F,Shril S,van der Ven AT,Majmundar AJ,Holton KM,Kolb A,Braun DA,Rao J,Jobst-Schwan T,Mildenberger E,Lennert T,Kuechler A,Wieczorek D,Gross O,Ermisch-Omran B,Werberger A,Skalej M,Janecke AR,Soliman NA,Mane SM,Lifton RP,Kadlec J,Guccione E,Schmeisser MJ,Zenker M,Hildebrandt F, J Am Soc Nephrol. March 1, 2021; 32(3):1533-3450.

Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease., Getwan M,Hoppmann A,Schlosser P,Grand K,Song W,Diehl R,Schroda S,Heeg F,Deutsch K,Hildebrandt F,Lausch E,Köttgen A,Lienkamp SS, Proc Natl Acad Sci U S A. September 28, 2021; 118(39):1091-6490.

Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia., Yoon J,Cachau R,David VA,Thompson M,Jung W,Jee SH,Daar IO,Winkler CA,Cho SK, Biomedicines. September 6, 2021; 9(9):2227-9059.

Adrenergic receptor signaling induced by Klf15, a regulator of regeneration enhancer, promotes kidney reconstruction., Suzuki N,Kanai A,Suzuki Y,Ogino H,Ochi H, Proc Natl Acad Sci U S A. August 16, 2022; 119(33):1091-6490.

Hnf1b renal expression directed by a distal enhancer responsive to Pax8., Goea L,Buisson I,Bello V,Eschstruth A,Paces-Fessy M,Le Bouffant R,Chesneau A,Cereghini S,Riou JF,Umbhauer M, Sci Rep. November 19, 2022; 12(1):2045-2322.

Modelling human genetic disorders in Xenopus tropicalis., Willsey HR,Seaby EG,Godwin A,Ennis S,Guille M,Grainger RM, Dis Model Mech. May 1, 2024; 17(5):1754-8411.