Results 11 to 20 of about 1,474 (144)

Unique features of seizure-induced cardiorespiratory failure in SS^Kcnj16-/- rats: Implications for sudden unexpected death in epilepsy. [PDF]

Epilepsia
Patients with uncontrolled epilepsy are at high risk for sudden unexpected death in epilepsy (SUDEP), which likely results from a pathological, seizure‐induced disruption of vital physiological systems.
Eilbes M, Gallo A, Osmani WA, Bittencourt-Silva P, Manis AD, Hodges MR.   +5 more
europepmc   +4 more sources

Kcnj16 knockout produces audiogenic seizures in the Dahl salt-sensitive rat [PDF]

JCI Insight, 2021
Kir5.1 is an inwardly rectifying potassium (Kir) channel subunit abundantly expressed in the kidney and brain. We previously established the physiologic consequences of a Kcnj16 (gene encoding Kir5.1) knockout in the Dahl salt-sensitive rat (SSKcnj16–/–),
Anna D. Manis, Oleg Palygin, Elena Isaeva, Vladislav Levchenko, Peter S. LaViolette, Tengis S. Pavlov, Matthew R. Hodges, Alexander Staruschenko   +7 more
doaj   +4 more sources

Kcnj16 (Kir5.1) gene ablation causes subfertility and increases the prevalence of morphologically abnormal spermatozoa [PDF]

International Journal of Molecular Sciences, 2021
The ability of spermatozoa to swim towards an oocyte and fertilize it depends on precise K+ permeability changes. Kir5.1 is an inwardly-rectifying potassium (Kir) channel with high sensitivity to intracellular H+ (pHi) and extracellular K+ concentration [
Belia S., Brancorsini S., Cenciarini M., D'adamo M. C., Hasan S., Imbrici P., Pessia M., Poli G., Shehab S., Tucker S. J.   +9 more
core   +6 more sources

Role of K_ir5.1 (Kcnj16) Channels in Regulating Renal Ammonia Metabolism during Metabolic Acidosis in Dahl Salt-Sensitive Rats. [PDF]

Am J Pathol
Maintaining acid-base homeostasis is critical for normal physiological function. The kidneys are essential for regulating acid-base homeostasis through maintaining systemic bicarbonate concentration. Chronic metabolic acidosis is an independent risk factor for chronic kidney diseases.
Xu B, Levchenko V, Zietara A, Fan S, Klemens CA, Staruschenko A.   +5 more
europepmc   +4 more sources

Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses. [PDF]

PLoS Genetics, 2015
Metabolite quantitative traits carry great promise for epidemiological studies, and their genetic background has been addressed using Genome-Wide Association Studies (GWAS).
Ayşe Demirkan, Peter Henneman, Aswin Verhoeven, Harish Dharuri, Najaf Amin, Jan Bert van Klinken, Lennart C Karssen, Boukje de Vries, Axel Meissner, Sibel Göraler, Arn M J M van den Maagdenberg, André M Deelder, Peter A C 't Hoen, Cornelia M van Duijn, Ko Willems van Dijk   +14 more
doaj   +2 more sources

Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis [PDF]

European Journal of Human Genetics, 2021
KCNJ16 encodes Kir5.1 and acts in combination with Kir4.1, encoded by KCNJ10, to form an inwardly rectifying K+ channel expressed at the basolateral membrane of epithelial cells in the distal nephron.
B. Webb, H. Hotchkiss, P. Prasun, B. Gelb, L. Satlin   +4 more
semanticscholar   +3 more sources

Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness [PDF]

Journal of the American Society of Nephrology, 2021
Visual Abstract Significance Statement A novel disease phenotype comprises a tubulopathy with severe hypokalemia, renal salt wasting, disturbed acid-base homeostasis, and sensorineural deafness associated with variants in KCNJ16 (Kir5.1).
K. Schlingmann, A. Renigunta, E. Hoorn, A. Forst, Vijay Renigunta, Velko Atanasov, S. Mahendran, T. S. Barakat, V. Gillion, N. Godefroid, A. Brooks, D. Lugtenberg, Jennifer Lake, H. Debaix, C. Rudin, B. Knebelmann, S. Tellier, C. Rousset-Rouvière, D. Viering, J. D. de Baaij, S. Weber, O. Palygin, A. Staruschenko, R. Kleta, P. Houillier, D. Bockenhauer, O. Devuyst, R. Vargas-Poussou, R. Warth, A. Zdebik, M. Konrad   +30 more
semanticscholar   +7 more sources

EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies [PDF]

Frontiers in Physiology, 2022
In 2009, two groups independently linked human mutations in the inwardly rectifying K+ channel Kir4.1 (gene name KCNJ10) to a syndrome affecting the central nervous system (CNS), hearing, and renal tubular salt reabsorption.
Jacky Lo, Anna-Lena Forst, Richard Warth, Anselm A. Zdebik, Anselm A. Zdebik   +4 more
doaj   +3 more sources

Identification of gastric cancer biomarkers through in-silico analysis of microarray based datasets [PDF]

Biochemistry and Biophysics Reports
Gastric cancer is among the most prevalent cancers worldwide including in Pakistan. Late diagnosis of gastric cancer leads to reduced survival. The present study aimed to investigate biomarkers for early diagnosis and prognosis of gastric cancer.
Arbaz Akhtar, Yasir Hameed, Samina Ejaz, Iqra Abdullah   +3 more
doaj   +2 more sources

The Ion Channel-Related Gene Signatures Correlated With Diagnosis, Prognosis, and Individualized Treatment in Patients With Clear Cell Renal Cell Carcinoma [PDF]

Frontiers in Pharmacology, 2022
Background: Early detection and precise prognostic evaluation of clear cell renal cell carcinoma (ccRCC) are crucial for patient life expectancy. Ion channel-related genes (ICRGs) are of great diagnostic and prognostic value as components that maintain ...
Zhenpeng Zhu, Zhenchuan Lei, Jinqin Qian, Cuijian Zhang, Yanqing Gong, Guicao Yin, Yifan Li, Xuesong Li, Jian Lin, Liqun Zhou   +9 more
doaj   +2 more sources