Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Hanna Västinsalo"'
Autor:
Scott F Geller, Karen I Guerin, Meike Visel, Aaron Pham, Edwin S Lee, Amiel A Dror, Karen B Avraham, Toshinori Hayashi, Catherine A Ray, Thomas A Reh, Olivia Bermingham-McDonogh, William J Triffo, Shaowen Bao, Juha Isosomppi, Hanna Västinsalo, Eeva-Marja Sankila, John G Flannery
Publikováno v:
PLoS Genetics, Vol 5, Iss 8, p e1000607 (2009)
Mutations in the CLRN1 gene cause Usher syndrome type 3 (USH3), a human disease characterized by progressive blindness and deafness. Clarin 1, the protein product of CLRN1, is a four-transmembrane protein predicted to be associated with ribbon synaps
Externí odkaz:
https://doaj.org/article/5b0b5b895c4640a499371880eb763eef
Autor:
Hanno J. Bolz, Christine Neuhaus, Liisa Jauhola, Eeva-Marja Sankila, Hanna Västinsalo, Carsten Bergmann, Reetta Jalkanen, Leenamaija Kleemola
Publikováno v:
Acta Ophthalmologica. 91:325-334
Purpose: The Finnish distribution of clinical Usher syndrome (USH) types is 40% USH3, 34% USH1 and 12% USH2. All patients with USH3 carry the founder mutation in clarin 1 (CLRN1), whereas we recently reported three novel myosin VIIA (MYO7A) mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48ec1eff35964f7d77a692d823d01238
https://doi.org/10.1111/j.1755-3768.2012.02397.x
https://doi.org/10.1111/j.1755-3768.2012.02397.x
Autor:
John G. Flannery, William W. Hauswirth, Juha Isosomppi, S.F. Geller, Hanna Västinsalo, Eeva-Marja Sankila, Reetta Jalkanen, Astra Dinculescu
Publikováno v:
European Journal of Human Genetics. 19:30-35
Clarin 1 (CLRN1) is a four-transmembrane protein expressed in cochlear hair cells and neural retina, and when mutated it causes Usher syndrome type 3 (USH3). The main human splice variant of CLRN1 is composed of three exons that code for a 232-aa pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63700f3ab86d21dff1b05d0620391318
https://doi.org/10.1038/ejhg.2010.140
https://doi.org/10.1038/ejhg.2010.140
Autor:
Akram M Abdel-Rahman, Hanna Västinsalo, Juha-Pekka Vasama, Eeva-Marja Sankila, Antti A. Aarnisalo, Laura Pietola, Reijo Johansson, Erna Kentala, Hannu Valtonen, Jussi Jero, Juha Isosomppi, Heikki Löppönen
Publikováno v:
Otologyneurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. 33(1)
Usher syndrome Type 3 (USH3) is an autosomal recessive disorder characterized by variable type and degree of progressive sensorineural hearing loss and retinitis pigmentosa. Cochlear implants are widely used among these patients.To evaluate the resul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::689d924c67dfeaaf75b9380d1d9cf974
https://pubmed.ncbi.nlm.nih.gov/22143301
https://pubmed.ncbi.nlm.nih.gov/22143301
Autor:
Thomas A. Reh, Meike Visel, Hanna Västinsalo, Aaron Pham, Toshinori Hayashi, K. Guerin, Juha Isosomppi, Amiel A. Dror, Eeva-Marja Sankila, S.F. Geller, John G. Flannery, W.J. Triffo, Shaowen Bao, Catherine A. Ray, Edwin S. Lee, Karen B. Avraham, Olivia Bermingham-McDonogh
Publikováno v:
PLoS Genetics, Vol 5, Iss 8, p e1000607 (2009)
PLoS genetics, vol 5, iss 8
PLoS Genetics
PLoS genetics, vol 5, iss 8
PLoS Genetics
Mutations in the CLRN1 gene cause Usher syndrome type 3 (USH3), a human disease characterized by progressive blindness and deafness. Clarin 1, the protein product of CLRN1, is a four-transmembrane protein predicted to be associated with ribbon synaps
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adfe7c40ef48d99354520302cd9df1bf
http://europepmc.org/articles/PMC2719914?pdf=render
http://europepmc.org/articles/PMC2719914?pdf=render
Autor:
Juha, Isosomppi, Hanna, Västinsalo, Scott F, Geller, Elise, Heon, John G, Flannery, Eeva-Marja, Sankila
Publikováno v:
Molecular Vision
Purpose Mutations of clarin 1 (CLRN1) cause Usher syndrome type 3 (USH3). To determine the effects of USH3 mutations on CLRN1 function, we examined the cellular distribution and stability of both normal and mutant CLRN1 in vitro. We also searched for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a6091dc823179865ea2cf6c6f29c5d33
https://pubmed.ncbi.nlm.nih.gov/19753315
https://pubmed.ncbi.nlm.nih.gov/19753315
Autor:
Jennifer B. Phillips, Monte Westerfield, Jeremy Wegner, Eeva-Marja Sankila, Aurélie Clément, Hanna Västinsalo
Publikováno v:
Gene Expression Patterns. (8):473-481
Clarin-1 (CLRN1) is the causative gene in Usher syndrome type 3A, an autosomal recessive disorder characterized by progressive vision and hearing loss. CLRN1 encodes Clarin-1, a glycoprotein with homology to the tetraspanin family of proteins. Previo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f73814844fdf73d12ab80ca3eb85091f
Autor:
Västinsalo, Hanna1,2, Jalkanen, Reetta1,2, Bergmann, Carsten3,4, Neuhaus, Christine3, Kleemola, Leenamaija5, Jauhola, Liisa6, Bolz, Hanno Jörn3,7, Sankila, Eeva‐Marja1,8
Publikováno v:
Acta Ophthalmologica (1755375X). Jun2013, Vol. 91 Issue 4, p325-334. 10p.
Publikováno v:
Senses of Cinema; Jan2021, Issue 97, pN.PAG-N.PAG, 1p