Zobrazeno 1 - 10
of 128
pro vyhledávání: '"EAST syndrome"'
Autor:
An Vanhaesebrouck, Mario Van Poucke, Kimberley Stee, Nicolas Granger, Edward Ives, Iris Van Soens, Ine Cornelis, Kenny Bossens, Luc Peelman, Luc Van Ham, Sofie F. M. Bhatti
Publikováno v:
Journal of Veterinary Internal Medicine, Vol 37, Iss 6, Pp 2310-2314 (2023)
Abstract Background KCNJ10 and CAPN1 variants cause “spinocerebellar” ataxia in dogs, but their association with generalized myokymia and neuromyotonia remains unclear. Objective To investigate the association between KCNJ10 and CAPN1 and myokymi
Externí odkaz:
https://doaj.org/article/8ffe16d0f22943dabbb04dd6640f3c06
Publikováno v:
EMBO Molecular Medicine, Vol 14, Iss 2, Pp 1-15 (2021)
Abstract Epidemiological and clinical observations have shown that potassium ingestion is inversely correlated with arterial hypertension prevalence and cardiovascular mortality. The higher the dietary potassium, the lower the blood pressure and mort
Externí odkaz:
https://doaj.org/article/55cec973cc7d4bd4a357b7f2065bc904
Publikováno v:
Frontiers in Physiology, Vol 13 (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. The autosomal recessive s
Externí odkaz:
https://doaj.org/article/a2f1ca8e23cd4b56bc2c23ec5a659c73
Autor:
Nico Mauri, Miriam Kleiter, Michael Leschnik, Sandra Högler, Elisabeth Dietschi, Michaela Wiedmer, Joëlle Dietrich, Diana Henke, Frank Steffen, Simone Schuller, Corinne Gurtner, Nadine Stokar-Regenscheit, Donal O’Toole, Thomas Bilzer, Christiane Herden, Anna Oevermann, Vidhya Jagannathan, Tosso Leeb
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 7, Iss 2, Pp 663-669 (2017)
Spongy degeneration with cerebellar ataxia (SDCA) is a severe neurodegenerative disease with monogenic autosomal recessive inheritance in Malinois dogs, one of the four varieties of the Belgian Shepherd breed. We performed a genetic investigation in
Externí odkaz:
https://doaj.org/article/7a89d3609a6741b482aa2aee18353e4b
Akademický článek
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Autor:
Hongfeng Zhang, Lin Zhu, Fengpeng Wang, Ruimin Wang, Yujuan Hong, Yangqin Chen, Bin Zhu, Yue Gao, Hong Luo, Xian Zhang, Hao Sun, Ying Zhou, Yi Yao, Xin Wang
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Inwardly rectifying K+ channel 4.1 (Kir4.1), encoded by KCNJ10, is a member of the inwardly rectifying potassium channel family. In the brain, Kir4.1 is predominant in astrocytic glia and accounts for the spatial buffering of K+ released by neurons d
Externí odkaz:
https://doaj.org/article/87f47c6e859242a6ba77ebeb39929743
Autor:
Kinjal Bagthariya(M.P.T)
Publikováno v:
INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH. :74-77
EAST syndrome is autosomal recessive disorder due to mutations in gene KCNJ10, a gene encoding a potassium channel expressed in the brain, eye, ear and kidney. It is characterized by four cardinal features; Epilepsy, Ataxia, Sensorineural deafness, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::14dd100704eeb4040e438d6f4d9408fc
https://doi.org/10.36106/ijsr/4814216
https://doi.org/10.36106/ijsr/4814216
Publikováno v:
Frontiers in Physiology. 13
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. The autosomal recessive s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4620044de3c5986c6a4ab6b0e862d48
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
EMBO Molecular Medicine, Vol 14, Iss 2, Pp n/a-n/a (2022)
Epidemiological and clinical observations have shown that potassium ingestion is inversely correlated with arterial hypertension prevalence and cardiovascular mortality. The higher the dietary potassium, the lower the blood pressure and mortality. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cf253c7a5622839a59cf21823fb5d67
https://doaj.org/article/55cec973cc7d4bd4a357b7f2065bc904
https://doaj.org/article/55cec973cc7d4bd4a357b7f2065bc904