Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Christiane K. Bauer"'
Autor:
Christiane K. Bauer, Tess Holling, Denise Horn, Mário Nôro Laço, Ebtesam Abdalla, Omneya Magdy Omar, Malik Alawi, Kerstin Kutsche
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 17, p 9690 (2022)
Dominant KCNQ1 variants are well-known for underlying cardiac arrhythmia syndromes. The two heterozygous KCNQ1 missense variants, R116L and P369L, cause an allelic disorder characterized by pituitary hormone deficiency and maternally inherited gingiv
Externí odkaz:
https://doaj.org/article/dd070170add34d3f98618f3c6e399594
Autor:
Christiane K, Bauer, Tess, Holling, Denise, Horn, Mário Nôro, Laço, Ebtesam, Abdalla, Omneya Magdy, Omar, Malik, Alawi, Kerstin, Kutsche
Publikováno v:
International journal of molecular sciences. 23(17)
Dominant
Autor:
Susan M. White, Janine Altmüller, Pauline E. Schneeberger, Fanny Kortüm, Philippe M. Campeau, Jennifer Keller-Ramey, Kerstin Kutsche, Christiane K. Bauer, Laura A. Baker, Fernando Santos-Simarro, Karen W. Gripp
Publikováno v:
The American Journal of Human Genetics. 104:1139-1157
Zimmermann-Laband syndrome (ZLS) is characterized by coarse facial features with gingival enlargement, intellectual disability (ID), hypertrichosis, and hypoplasia or aplasia of nails and terminal phalanges. De novo missense mutations in KCNH1 and KC
Autor:
Christiane K. Bauer, Jürgen R. Schwarz
Publikováno v:
The Journal of Physiology. 596:769-783
Mammalian ether-a-go-go (EAG) channels are voltage-gated K+ channels. They are encoded by the KCNH gene family and divided into three subfamilies, eag (Kv10), erg (eag-related gene; Kv11) and elk (eag-like; Kv12). All EAG channel subtypes are express
Autor:
Christiane K, Bauer, Pauline E, Schneeberger, Fanny, Kortüm, Janine, Altmüller, Fernando, Santos-Simarro, Laura, Baker, Jennifer, Keller-Ramey, Susan M, White, Philippe M, Campeau, Karen W, Gripp, Kerstin, Kutsche
Publikováno v:
American journal of human genetics. 104(6)
Zimmermann-Laband syndrome (ZLS) is characterized by coarse facial features with gingival enlargement, intellectual disability (ID), hypertrichosis, and hypoplasia or aplasia of nails and terminal phalanges. De novo missense mutations in KCNH1 and KC
Autor:
Giuseppe Zampino, Richard E. Person, Gianfranco Bocchinfuso, Alessandro Bruselles, Francesca Clementina Radio, Paolo Calligari, Simone Pizzi, Francesca Pantaleoni, Nadia Falah, Bruno Dallapiccola, Marco Tartaglia, Maria Lisa Dentici, S. Pro, Andrea Ciolfi, Frances A. High, Daniela J. Claps Sepulveda, Sabina Barresi, Christiane K. Bauer, Maria Cristina Digilio, Sarah Richards, Viviana Caputo, Roberta Battini, Lorenzo Stella, Megan T. Cho
Aberrant activation or inhibition of potassium (K(+)) currents across the plasma membrane of cells has been causally linked to altered neurotransmission, cardiac arrhythmias, endocrine dysfunction, and (more rarely) perturbed developmental processes.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::776272271a7dcacb56fabb782a75426e
http://hdl.handle.net/11573/1179916
http://hdl.handle.net/11573/1179916
Autor:
Christiane K, Bauer, Jürgen R, Schwarz
Publikováno v:
The Journal of physiology. 596(5)
Mammalian ether‐à‐go‐go (EAG) channels are voltage‐gated K(+) channels. They are encoded by the KCNH gene family and divided into three subfamilies, eag (Kv10), erg (eag‐related gene; Kv11) and elk (eag‐like; Kv12). All EAG channel subty
Autor:
Robert Bähring, Christiane K. Bauer
Publikováno v:
Advances in Physiology Education. 38:253-264
The generation and conduction of neuronal action potentials (APs) were the subjects of a cell physiology exercise for first-year medical students. In this activity, students demonstrated the all-or-none nature of AP generation, measured conduction ve
Autor:
Christiane K. Bauer, Maike Mauerhöfer
Kv11.1 channels are crucial in cardiac physiology, and there is increasing evidence of physiological roles of different Kv11 channels outside the heart. The HERG (human Kv11.1a) channel has previously been shown to carry substantially more current at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e9b54e055445caf2676283b862fd18f
https://europepmc.org/articles/PMC4982939/
https://europepmc.org/articles/PMC4982939/
Autor:
Christiane K. Bauer, Iris Wulfsen, Udo Schumacher, Günter Glassmeier, Kathrin Hempel, Jürgen R. Schwarz
Publikováno v:
Pflugers Archiv
HERG (human ether-à-go-go-related gene) K(+) currents fulfill important ionic functions in cardiac and other excitable cells. In addition, HERG channels influence cell growth and migration in various types of tumor cells. The mechanisms underlying t