Results 131 to 140 of about 1,474 (144)

Kcnj10 (Kir 4.1) Knockout in Dahl SS Rats Determines the Expression of Kcnj10 and Kcnj16 Proteins in Brain and Kidney

The FASEB Journal, 2018
Loss‐of‐function mutation in Kcnj10 (Kir4.1) results in a number of neurological and renal pathologies in humans commonly known as EAST/SeSAME syndrome. The neurological complications, including the ataxia, associated with genetic mutations in Kcnj10 ...
O. Palygin, Anna D. Manis, V. Levchenko, D. Zaika, Nicholas J. Burgraff, Aron M. Geurts, M. Hodges, A. Staruschenko   +7 more
semanticscholar   +2 more sources

Renal phenotype of inwardly rectifying potassium channel Kcnj16 (Kir 5.1) knockout in the Dahl salt‐sensitive rats (893.16)

The FASEB Journal, 2014
The inward‐rectifying channels play an important role in the control of resting membrane potential and tubular homeostasis in the kidney. To illuminate the importance of Kcnj16 (Kir 5.1) in the context of a disease state in vivo, we generated a Kcnj16 knockout rat model in Dahl salt‐sensitive (SS) background by using zinc finger nuclease (ZFN ...
O. Palygin, V. Levchenko, Andrea Lowing, D. Ilatovskaya, T. Pavlov, A. Geurts, H. Jacob, A. Staruschenko   +7 more
semanticscholar   +2 more sources

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Acute and Chronic Effects of Seizures on Cardiorespiratory Control in the SS ^{Kcnj16‐/‐} Rat

The FASEB Journal, 2022
Epilepsy is a common neurological disorder in which 1/3 rd of patients experiences repeated seizures, which puts them at greater risk for Sudden Unexpected Death in Epilepsy (SUDEP). The pathophysiological consequences of repeated seizures resulting in SUDEP, including the effects of repeated
Melissa A. Eilbes, Anna D. Manis, Wasif Osmani, Vladislav Levchenko, Hubert V. Forster, Oleg Palygin, Alexander Staruschenko, Matthew Hodges   +7 more
openaire   +1 more source

Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.

Birth Defects Research Part A: Clinical and Molecular Teratology, 2016
BackgroundCampomelic dysplasia and acampomelic campomelic dysplasia (ACD) are allelic disorders due to heterozygous mutations in or around SOX9. Translocations and deletions involving the SOX9 5′ regulatory region are rare causes of these disorders, as well as Pierre Robin sequence (PRS) and 46,XY gonadal dysgenesis. Genotype–phenotype correlations are
M. Castori, I. Bottillo, S. Morlino, C. Barone, P. Cascone, P. Grammatico, L. Laino   +6 more
semanticscholar   +4 more sources

Assignment of mouse inwardly rectifying potassium channel Kcnj16 to the distal region of mouse chromosome 11.

Genomics, 1998
T. Mouri, N. Kittaka, Y. Horio, N. Copeland, D. Gilbert, N. Jenkins, Y. Kurachi   +6 more
semanticscholar   +3 more sources

The human inward rectifier K+ channel subunit Kir5.1 (KCNJ16) maps to chromosome 17q25 and is expressed in kidney and pancreas

Cytogenetics and cell genetics, 2000
A novel human Kir5.1 (inward rectifier K+ channel subunit, gene name KCNJ16) was identified through database searches. This human KCNJ16 was mapped to chromosome 17q25. The full-length cDNA was identified and its genomic structure was determined. Tissue distribution studies showed that human KCNJ16 is significantly expressed in human kidney, pancreas ...
Y. Liu, E. McKenna, D. Figueroa, R. Blevins, C. Austin, P. Bennett, R. Swanson   +6 more
semanticscholar   +4 more sources

Die physiologische und pathophysiologische Bedeutung von KCNJ16

2014
Die Rückresorptionsprozesse in der Niere und ihre genaue Regulation sind essentiell für die Wasser- und Elektrolythomöostase sowie die Regulation des Blutdrucks. Auch wenn im distalen Konvolut (DCT) nur ein relativ kleiner Anteil an Elektrolyten rückresorbiert wird, führen Störungen in diesem Segment dennoch zu deutlichen Krankheitssymptomen, wie man ...
openaire   +2 more sources

Characteristics of Cardiorespiratory Failure Preceding Seizure-Induced Mortality in SS^{Kcnj16−/−} Rats

Physiology
Epilepsy is a common, chronic neurological condition characterized by repeated, uncontrolled seizures. These patients are at high risk for cardiorespiratory failure (CRF) and Sudden Unexpected Death in Epilepsy (SUDEP) — the mechanisms of which remain unknown.
Melissa Eilbes, Anna D. Manis, Wasif Osmani, Paloma Bittencourt-Silva, Hubert Forster, Matthew R. Hodges   +5 more
openaire   +1 more source

Abstract 113: Renal Phenotype of Inwardly Rectifying Potassium Channel Kcnj16 (Kir 5.1) Knockout in the Dahl Salt-Sensitive Rats

Hypertension, 2015
The inward-rectifying channels play an important role in the control of resting membrane potential and tubular homeostasis in the kidney. Kcnj16 (Kir 5.1) form a heteromeric channel with Kcnj10 (Kir 4.1) at the basolateral membranes of aldosterone-sensitive distal nephron (ASDN); mutations in the human KCNJ10 gene result in SeSAME)/EAST syndrome, a ...
Oleg Palygin, Vladislav Levchenko, Daria V Ilatovskaya, Jessica L Barnett, Aron M Geurts, Howard J Jacob, Alexander Staruschenko   +6 more
openaire   +1 more source

Chromosomal Rearrangements Identified in Three Additional Patients With Generalized Congenital Hypertrichosis With Gingival Hyperplasia Involving the 17q24.2-q24.3 Locus.

Clinical Genetics
We describe three unrelated individuals with congenital generalized hypertrichosis with gingival hyperplasia (CGHGH), each carrying a distinct structural rearrangement (duplication, deletion, inversion) at 17q24.2-q24.3 identified by CMA and WGS. Despite
J. Tenorio-Castaño, Marta Feito, Raúl de Lucas, E. Sendagorta, Cristina Gómez-Fernández, Alejandro Parra, E. Vallespín, Natalia Gallego-Zazo, Mario Cazalla, Juan A Jiménez-Estrada, Lucía Miranda-Alcaraz, Mónica Mora-Gómez, Manuel Rodríguez-Canó, Valeria Vázquez-Amell, Sergio Ramos, Tomás Valle, Elena Mansilla, Fe García Santiago, Enrique Galán-Gómez, E. Calpena, V. Ruiz-Perez, Julián Nevado, P. Lapunzina   +22 more
semanticscholar   +1 more source