Zobrazeno 1 - 10
of 875
pro vyhledávání: '"Karin Jurkat-Rott"'
Autor:
Kerstin Hoppe, Karin Jurkat-Rott, Stefanie Kranepuhl, Scott Wearing, Sebastian Heiderich, Sonja Merlak, Werner Klingler
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle metabolism characterized by generalized muscle rigidity, increased body temperature, rhabdomyolysis, hyperkalemia and severe metabolic acidosis. The underlying mech
Externí odkaz:
https://doaj.org/article/dc483e7be68a43b397567e7004957a46
Autor:
Kerstin Hoppe, Tina Sartorius, Sunisa Chaiklieng, Georg Wietzorrek, Peter Ruth, Karin Jurkat-Rott, Scott Wearing, Frank Lehmann-Horn, Werner Klingler
Publikováno v:
Frontiers in Physiology, Vol 11 (2020)
Reduced Cl− conductance causes inhibited muscle relaxation after forceful voluntary contraction due to muscle membrane hyperexcitability. This represents the pathomechanism of myotonia congenita. Due to the prevailing data suggesting that an increa
Externí odkaz:
https://doaj.org/article/9db5fb3bf79e453fab6cd2dbdb9c10bc
Autor:
Werner Klingler, Sunisa Chaiklieng, Kerstin Hoppe, Scott C. Wearing, Frank Lehmann-Horn, Karin Jurkat-Rott
Publikováno v:
The Journal of Physiology. 597:225-235
KEY POINTS: During myotonia congenita, reduced chloride (Cl(−)) conductance results in impaired muscle relaxation and increased muscle stiffness after forceful voluntary contraction. Repetitive contraction of myotonic muscle decreases or even aboli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a08aa688e1f9015a0014ae395b9717a
https://doi.org/10.1113/jp276528
https://doi.org/10.1113/jp276528
Autor:
Karin Jurkat-Rott, Werner Klingler, Kerstin Hoppe, Frank Lehmann-Horn, Scott C. Wearing, Sunisa Chaiklieng
Publikováno v:
Pflugers Archiv : European journal of physiology. 472(10)
In myotonia, reduced Cl- conductance of the mutated ClC-1 channels causes hindered muscle relaxation after forceful voluntary contraction due to muscle membrane hyperexcitability. Repetitive contraction temporarily decreases myotonia, a phenomena cal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66227039c3d46325e866384785f281eb
https://pubmed.ncbi.nlm.nih.gov/32885305
https://pubmed.ncbi.nlm.nih.gov/32885305
Autor:
Frank Lehmann-Horn, Vern Winston, James R. Groome, Paula Arinze, Landon Bayless-Edwards, Karin Jurkat-Rott
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-13 (2018)
Hypokalemic periodic paralysis is a skeletal muscle disease characterized by episodic weakness associated with low serum potassium. We compared clinical and biophysical effects of R222W, the first hNaV1.4 domain I mutation linked to this disease. R22
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac44806730cafef05e186ccac8b711ba
http://link.springer.com/article/10.1038/s41598-018-28594-5
http://link.springer.com/article/10.1038/s41598-018-28594-5
Publikováno v:
Cephalalgia. 38:1503-1508
Background Familial hemiplegic migraine type 3 is a monogenic subtype of migraine caused by missense mutations in the neuronal voltage-gated sodium channel gene SCN1A, with 10 different mutations reported so far. In two familial hemiplegic migraine t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f86a7880f0272c7b5f184ddc88c47aa5
https://doi.org/10.1177/0333102417742365
https://doi.org/10.1177/0333102417742365
Publikováno v:
Journal of Clinical Neuroscience. 45:209-213
Subarachnoid hemorrhage (SAH) remains a challenging neurosurgical disease. The ryanodine receptor type 1 Ca2+ channel (RyR1) plays a crucial role in vasoconstriction and hemostasis. Mutations of the encoding gene, RYR1, are known to cause susceptibil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef71e5b531b5e8e5c1b147165fac901c
https://doi.org/10.1016/j.jocn.2017.06.029
https://doi.org/10.1016/j.jocn.2017.06.029
Publikováno v:
Biophysical Journal. 120:154a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ad0fbf8d2b78c5aa8e3dd1379825cadb
https://doi.org/10.1016/j.bpj.2020.11.1115
https://doi.org/10.1016/j.bpj.2020.11.1115
Publikováno v:
Clinical Genetics. 91:859-867
Hyperkalemic periodic paralysis (HyperPP) is a dominantly inherited muscle disease caused by mutations in SCN4A gene encoding skeletal muscle voltage gated Nav 1.4 channels. We identified a novel Nav 1.4 mutation I692M in 14 families out of the 104 g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5fdb3099ebd623f579e513e5b88227ec
https://doi.org/10.1111/cge.12880
https://doi.org/10.1111/cge.12880
Autor:
Yuwei Da, Karin Jurkat-Rott, Marcin Bednarz, Frank Lehmann-Horn, Jens Schallner, Chunxiang Fan
Publikováno v:
Journal of Neurological Research And Therapy. 1:20-30
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::097695c27586f13de65a424c7ecfd36f
https://doi.org/10.14302/issn.2470-5020.jnrt-16-993
https://doi.org/10.14302/issn.2470-5020.jnrt-16-993