scholarly journals Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the HNF1B gene

2021 ◽  
Vol 0 (0) ◽  
pp. 0-0
Author(s):  
Roxana Cleper ◽  
Adi Reches ◽  
Dana Shapira ◽  
Sharon Simchoni ◽  
Lewis Reisman ◽  
...  
Keyword(s):  
Renal Phenotype

Renal phenotype of low kallikrein rats

2001 ◽  
Vol 59 (6) ◽  
pp. 2233 ◽  
Author(s):  
Paolo Madeddu ◽  
Carlos P. Vio ◽  
Stefania Straino ◽  
Maria Bonaria Salis ◽  
Anna Franca Milia ◽  
...  
Keyword(s):  
Renal Phenotype

Variable renal phenotype in a family with an INF2 mutation

2010 ◽  
Vol 26 (1) ◽  
pp. 73-76 ◽  
Author(s):  
Hyun Kyung Lee ◽  
Kyoung Hee Han ◽  
Yun Hye Jung ◽  
Hee Gyung Kang ◽  
Kyung Chul Moon ◽  
...  
Keyword(s):  
Renal Phenotype

scholarly journals Absence of renal phenotype in hereditary haemorrhagic telangiectasia

2018 ◽  
Vol 48 (10) ◽  
pp. 1255-1257
Author(s):  
Lachlan Healy ◽  
Kathleen Nicholls ◽  
Robert Gibson ◽  
Damien Stella ◽  
Michael Bogwitz ◽  
...  
Keyword(s):  
Hereditary Haemorrhagic Telangiectasia ◽  
Renal Phenotype

scholarly journals Underlying genetic factors of the VATER/VACTERL association with special emphasis on the “Renal” phenotype

2016 ◽  
Vol 31 (11) ◽  
pp. 2025-2033 ◽  
Author(s):  
Heiko Reutter ◽  
Alina C. Hilger ◽  
Friedhelm Hildebrandt ◽  
Michael Ludwig
Keyword(s):  
Genetic Factors ◽  
Vacterl Association ◽  
Renal Phenotype

scholarly journals Genetic Renal Diseases: The Emerging Role of Zebrafish Models

Cells ◽  
2018 ◽  
Vol 7 (9) ◽  
pp. 130 ◽  
Author(s):  
Mohamed Elmonem ◽  
Sante Berlingerio ◽  
Lambertus van den Heuvel ◽  
Peter de Witte ◽  
Martin Lowe ◽  
...  
Keyword(s):  
Genetic Diseases ◽  
Cost Effective ◽  
Therapeutic Interventions ◽  
Renal Diseases ◽  
Larval Zebrafish ◽  
Zebrafish Pronephros ◽  
Evaluation Techniques ◽  
Renal Phenotype

The structural and functional similarity of the larval zebrafish pronephros to the human nephron, together with the recent development of easier and more precise techniques to manipulate the zebrafish genome have motivated many researchers to model human renal diseases in the zebrafish. Over the last few years, great advances have been made, not only in the modeling techniques of genetic diseases in the zebrafish, but also in how to validate and exploit these models, crossing the bridge towards more informative explanations of disease pathophysiology and better designed therapeutic interventions in a cost-effective in vivo system. Here, we review the significant progress in these areas giving special attention to the renal phenotype evaluation techniques. We further discuss the future applications of such models, particularly their role in revealing new genetic diseases of the kidney and their potential use in personalized medicine.

Immunolocalization of electrogenic sodium-bicarbonate cotransporters pNBC1 and kNBC1 in the rat eye

2001 ◽  
Vol 281 (5) ◽  
pp. F920-F935 ◽  
Author(s):  
Dean Bok ◽  
Matthew J. Schibler ◽  
Alexander Pushkin ◽  
Pejvak Sassani ◽  
Natalia Abuladze ◽  
...  
Keyword(s):  
Protein Expression ◽  
Sodium Bicarbonate ◽  
Molecular Mechanisms ◽  
Coding Region ◽  
Sodium Bicarbonate Cotransporter ◽  
Band Keratopathy ◽  
Proximal Renal Tubular Acidosis ◽  
Renal Tubular ◽  
Protein Variants ◽  
Renal Phenotype

The human NBC1 gene encodes two electrogenic sodium-bicarbonate cotransport proteins, pNBC1 and kNBC1, which are candidate proteins for mediating electrogenic sodium-bicarbonate cotransport in ocular cells. Mutations in the coding region of the human NBC1 gene in exons common to both pNBC1 and kNBC1 result in a syndrome with a severe ocular and renal phenotype (blindness, band keratopathy, glaucoma, cataracts, and proximal renal tubular acidosis). In the present study, we determined the pattern of electrogenic sodium-bicarbonate cotransporter protein expression in rat eye. For this purpose, pNBC1- and kNBC1-specific antibodies were generated and used to detect these NBC1 protein variants by immunoblotting and immunocytochemistry. pNBC1 is expressed in cornea, conjunctiva, lens, ciliary body, and retina, whereas the expression of kNBC1 is restricted to the conjunctiva. These results provide the first evidence for extrarenal kNBC1 protein expression. The data in this study will serve as a basis for understanding the molecular mechanisms responsible for abnormalities in ocular electrogenic sodium-bicarbonate cotransport in patients with mutations in the NBC1 gene.

scholarly journals A role for OCRL in glomerular function and disease

2019 ◽  
Vol 35 (4) ◽  
pp. 641-648 ◽  
Author(s):  
Rebecca Preston ◽  
Richard W Naylor ◽  
Graham Stewart ◽  
Agnieszka Bierzynska ◽  
Moin A Saleem ◽  
...  
Keyword(s):  
In Situ Hybridisation ◽  
Kidney Tissue ◽  
Human Kidney ◽  
Tubular Function ◽  
Glomerular Function ◽  
Persistent Proteinuria ◽  
Whole Exome ◽  
Proximal Tubulopathy ◽  
Renal Phenotype

Abstract Background Lowe syndrome and Dent-2 disease are caused by mutations in the OCRL gene, which encodes for an inositol 5-phosphatase. The renal phenotype associated with OCRL mutations typically comprises a selective proximal tubulopathy, which can manifest as Fanconi syndrome in the most extreme cases. Methods Here, we report a 12-year-old male with nephrotic-range proteinuria and focal segmental glomerulosclerosis on renal biopsy. As a glomerular pathology was suspected, extensive investigation of tubular function was not performed. Results Surprisingly, whole exome sequencing identified a genetic variant in OCRL (c1467-2A>G) that introduced a novel splice mutation leading to skipping of exon 15. In situ hybridisation of adult human kidney tissue and zebrafish larvae showed OCRL expression in the glomerulus, supporting a role for OCRL in glomerular function. In cultured podocytes, we found that OCRL associated with the linker protein IPIP27A and CD2AP, a protein that is important for maintenance of the podocyte slit diaphragm. Conclusion Taken together, this work suggests a previously under-appreciated role for OCRL in glomerular function and highlights the importance of investigating tubular function in patients with persistent proteinuria.

scholarly journals Renal Phenotype of UT-A Urea Transporter Knockout Mice

2005 ◽  
Vol 16 (6) ◽  
pp. 1583-1592 ◽  
Author(s):  
Robert A. Fenton ◽  
Anneliese Flynn ◽  
Adetola Shodeinde ◽  
Craig P. Smith ◽  
Jurgen Schnermann ◽  
...  
Keyword(s):  
Knockout Mice ◽  
Urea Transporter ◽  
Renal Phenotype

Renal phenotype in heterozygous Lmx1b knockout mice (Lmx1b +/−) after unilateral nephrectomy

2007 ◽  
Vol 16 (6) ◽  
pp. 723-729 ◽  
Author(s):  
Sabine Endele ◽  
Sabine Klein ◽  
Sabine Richter ◽  
Tina Molter ◽  
Kerstin Amann ◽  
...  
Keyword(s):  
Knockout Mice ◽  
Unilateral Nephrectomy ◽  
Renal Phenotype
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