Zobrazeno 1 - 10
of 573
pro vyhledávání: '"Susan Kupka"'
Autor:
Christian Stirnkorb, Falko Fend, Hinnak Northoff, Derek Zieker, Bettina Knapp, Björn L.D.M. Brücher, Frank Traub, Alfred Königsrainer, Ingmar Königsrainer, Susan Kupka, Christian Schillinger, Kay Nieselt
Publikováno v:
Cellular Physiology and Biochemistry. 21:429-436
Peritoneal carcinomatosis, which is caused by the dissemination of cancer cells into the abdominal cavity is a frequent finding in patients with primary gastric cancer, and it is associated with a poor prognosis. The mechanisms that mediate peritonea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3ea2e0bfddc02fdcc7852d200bfd75c
https://doi.org/10.1159/000129635
https://doi.org/10.1159/000129635
Autor:
Guiscard Seebohm, Matthias Schwab, Markus Pfister, Susan Kupka, Elke Schaeffeler, Florian Lang, Nikola Jeck, Angelika Lampert, Siegfried Waldegger, Petra Waldegger, Andreas Frey, Ferruh Artunc, Christian Gerloff, Julia Hoppe, Undine E. Lang
Publikováno v:
Hearing Research. 214:68-75
Hearing depends on functional ClC-K-type chloride channels composed of barttin with ClC-Ka or ClC-Kb. Loss-of-function mutations of the barttin gene BSND or of both, the ClC-Ka gene CLNKA and the ClC-Kb gene CLNKB lead to congenital deafness and rena
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b95e7f83ad586fdc9fb522e907e3b5bc
https://doi.org/10.1016/j.heares.2006.02.001
https://doi.org/10.1016/j.heares.2006.02.001
Publikováno v:
HNO. 52:968-972
Die A1555G-Mutation der mitochondrialen DNA verursacht in der Halfte der Mutationstrager eine sensorineurale Schwerhorigkeit mit variabler Auspragung und bewirkt eine erhohte Empfindlichkeit gegenuber Aminoglykosiden. Die Einnahme von aminoglykosidha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f6fc6f686b4cc26da127856f27feb917
https://doi.org/10.1007/s00106-003-0994-8
https://doi.org/10.1007/s00106-003-0994-8
Autor:
István Sziklai, Holger Thiele, Susan Kupka, Hans P. Zenner, Tímea Tóth, Peter Nürnberg, Markus Pfister
Publikováno v:
HNO. 52:132-136
Hereditare Schwerhorigkeit ist eine extrem heterogene sensorische Erkrankung, wobei die nichtsyndromalen Formen einen Anteil von ungefahr 70% einnehmen. Bisher konnten lediglich 2 Loci (DFNA1, DFNA6/14/38) identifiziert werden, die mit einer sensorin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::833cfbe3f7a6dc0642996c3d1f69e82f
https://doi.org/10.1007/s00106-003-0912-0
https://doi.org/10.1007/s00106-003-0912-0
A Genotype-Phenotype Correlation with Gender-Effect for Hearing Impairment Caused by TECTA Mutations
Autor:
Peter Leistenschneider, Markus Pfister, Haluk Özkarakaş, Susan Kupka, Holger Thiele, Peter Nürnberg, Marcella Devoto, Omer Aydin, Erik Fransen, Nikolaus Blin, Fazil Apaydin, Hans-Peter Zenner, Guy Van Camp
Publikováno v:
Cellular Physiology and Biochemistry. 14:369-376
Background: Alpha-tectorin is a noncollagenous component of the tectorial membrane which plays an essential role in auditory transduction. In several DFNA12 families mutations in TECTA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::93883b0c4cd903098bbfb5098f4682a0
https://doi.org/10.1159/000080347
https://doi.org/10.1159/000080347
Publikováno v:
HNO. 52:11-17
Paragangliomas of the head and neck region are usually benign tumors that develop from chemoreceptors of paraganglionic origin in the majority of patients. These receptors play an important role in sensing and regulation of the blood CO(2) level. Gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::43a3a81994c31b32d0ee5493c6266490
https://doi.org/10.1007/s00106-003-0959-y
https://doi.org/10.1007/s00106-003-0959-y
Autor:
R. Arold, Rainer Zimmermann, Nikolaus Blin, Hans P. Zenner, Markus Pfister, Susan Kupka, N. Oh, Farhad Mirghomizadeh
Publikováno v:
HNO. 51:629-633
DFN3 (" stapes gusher") ist die haufigste Form X-chromosomal vererbter Schwerhorigkeit mit bis zu 0,5% aller schweren kindlichen Falle.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eb71c0e40b5d3ecf6893bde1f09ee140
https://doi.org/10.1007/s00106-002-0777-7
https://doi.org/10.1007/s00106-002-0777-7
Autor:
Susan Kupka, Nikolaus Blin, Peter Nürnberg, Birgit Haack, Tímea Tóth, Hans-Peter Zenner, Holger Thiele, István Sziklai, Markus Pfister
Publikováno v:
Molecular Medicine. 8:607-611
Hereditary hearing impairment (HHI) is a heterogeneous class of disorders that shows various patterns of inheritance and involves a multitude of different genes. Mutations in the EYA4 gene are responsible for postlingual, progressive, autosomal domin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::154de9806fafe3ac61a66a59a412343b
https://doi.org/10.1007/bf03402171
https://doi.org/10.1007/bf03402171
Autor:
Hans P. Zenner, Nikolaus Blin, Susan Kupka, Christine Petit, Carsten M. Pusch, Markus Pfister, Fazil Apaydin, Farhad Mirghomizadeh
Publikováno v:
Neurobiology of Disease, Vol 10, Iss 2, Pp 157-164 (2002)
DFNB, the nonsyndromic hearing loss with an autosomal recessive mode of inheritance constitutes the majority of severe to profound prelingual forms of hearing impairment, usually leading to inability of speech acquisition. We analyzed a consanguineou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1453b5f494a23346bfbb761b32d6bf52
https://doi.org/10.1006/nbdi.2002.0488
https://doi.org/10.1006/nbdi.2002.0488
Autor:
T Haug, Susan Kupka, Farhad Mirghomizadeh, Hans P. Zenner, Markus Pfister, C Schmitz-Salue, Nikolaus Blin, R. Arold, Peter Leistenschneider, Simone Braun
Publikováno v:
HNO. 48:671-674
Non-syndromic neurosensory recessive deafness (NSRD) is one of the most common human sensory disorders. Mutations in the connexin 26 gene have been established as a major cause of inherited and sporadic non-syndromic deafness in different populations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::648e7e11a43b4a909951ceb6675a6fec
https://doi.org/10.1007/s001060050637
https://doi.org/10.1007/s001060050637