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Barttin is a Cl- channel β-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion
TLDR
This work describes the first known β-subunit for CLC chloride channels and reveals that heteromers formed by ClC-K and barttin are crucial for renal salt reabsorption and potassium recycling in the inner ear.
A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition
TLDR
A transition zone complex of Meckel and Joubert syndrome proteins regulates ciliary assembly and trafficking, suggesting that transition zone dysfunction is the cause of these ciliopathies.
Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.
TLDR
It was concluded that patients with SRNS with homozygous or compound heterozygous mutations in NPHS2 do not respond to standard steroid treatment and have a reduced risk for recurrence of FSGS in a renal transplant.
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.
TLDR
An in-frame deletion in a novel centrosome- and cilia-associated protein CEP290 is identified, leading to early-onset retinal degeneration in a newly identified mouse mutant, rd16, and a critical function for CEP 290 in ciliary transport is suggested.
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
TLDR
These findings, together with the zebrafish model of human nephrotic syndrome generated by plce1 knockdown, open new inroads into pathophysiology and treatment mechanisms of nephrotsic syndrome.
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
TLDR
The interaction and colocalization in cilia of inversin, nephrocystin and β-tubulin connect pathogenetic aspects of NPHP to PKD, to primary cilia function and to left-right axis determination.
Nephronophthisis-associated ciliopathies.
TLDR
The ciliary theory explains the multiple organ involvement in NPHP regarding retinitis pigmentosa, liver fibrosis, ataxia, situs inversus, and mental retardation.
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
TLDR
The identification by positional cloning of a new gene, BSND, as the cause of Antenatal Bartter syndrome is reported, which encodes a hitherto unknown protein with two putative transmembrane α-helices that might function as a regulator for ion-transport proteins involved in aBS, or else as a new transporter or channel itself.
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
TLDR
Findings show that mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities found in CORS or MKS, which therefore represent a continuum of the same underlying disorder.
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