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Mutations in Kelch-like 3 and Cullin 3 cause hypertension and electrolyte abnormalities
The utility of exome sequencing in disease gene identification despite the combined complexities of locus heterogeneity, mixed models of transmission and frequent de novo mutation is demonstrated, and a fundamental role for KLHL3 and CUL3 in blood pressure, K+ and pH homeostasis is established.
Potassium leak channels and the KCNK family of two-p-domain subunits
- S. Goldstein, D. Bockenhauer, I. O'kelly, N. Zilberberg
- BiologyNature Reviews Neuroscience
- 1 March 2001
The discovery of KCNK channels is reviewed, what has been learned about them and what lies ahead: highly regulated, potassium-selective leak channels that function in a most remarkable fashion.
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
- H. Stanescu, M. Arcos-Burgos, R. Kleta
- Medicine, BiologyThe New England journal of medicine
- 16 February 2011
An HLA-DQA1 allele on chromosome 6p21 is most closely associated with idiopathic membranous nephropathy in persons of white ancestry and may facilitate an autoimmune response against targets such as variants of PLA2R1.
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
- C. E. Sadowski, S. Lovric, F. Hildebrandt
- Biology, MedicineJournal of the American Society of Nephrology…
- 1 June 2015
The study results should facilitate molecular genetic diagnostics of SRNS, etiologic classification for therapeutic studies, generation of genotype-phenotype correlations, and the identification of individuals in whom a targeted treatment for SRNS may be available.
KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function
- M. Reichold, A. Zdebik, R. Warth
- Biology, MedicineProceedings of the National Academy of Sciences
- 22 July 2010
In summary, EAST mutations of KCNJ10 lead to impaired channel function and structural changes in distal convoluted tubules and the metabolic alkalosis present in patients carrying the R65P mutation possibly improves residual function of KC NJ10, which shows higher activity at alkaline pH.
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
BACKGROUND Five children from two consanguineous families presented with epilepsy beginning in infancy and severe ataxia, moderate sensorineural deafness, and a renal salt-losing tubulopathy with…
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
It is recommended that the diagnosis of XLH is based on signs of rickets and/or osteomalacia in association with hypophosphataemia and renal phosphate wasting in the absence of vitamin D or calcium deficiency.
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.
- S. Adalat, A. Woolf, D. Bockenhauer
- Medicine, BiologyJournal of the American Society of Nephrology…
- 1 May 2009
A role for HNF1B not only in nephrogenesis but also in the maintenance of tubular function is described, thus describing a role for a transcription factor expressed in tissues including renal epithelia and regulating transcription of FXYD2 in the tubular handling of Mg(2+).
KCNK2: reversible conversion of a hippocampal potassium leak into a voltage-dependent channel
It is demonstrated here that phosphorylation of single, native hippocampal and cloned KCNK2 potassium channels produces reversible interconversion between leak and voltage-dependent phenotypes, revealing a pathway for dynamic regulation of excitability.
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
It is shown that ANKS6 localizes to the proximal cilium and confirmed its role in renal development through knockdown experiments in zebrafish and Xenopus laevis, and network analyses uncovered additional putative NPHP proteins and placed AN KS6 at the center of this N PHP module, explaining the overlapping disease manifestation caused by mutation in ANKS 6, NEK8, INVS or NPHp3.