Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Dana J. Orten"'
Autor:
Henri A. M. Marres, Guy Van Camp, Stephanie M. Fischer, William J. Kimberling, Katherine O. Welch, Richard J.H. Smith, Uppala Radhakrishna, Jessica L. Sorensen, Cor W. R. J. Cremers, Dana J. Orten
Publikováno v:
Human mutation
Human Mutation, 29, 4, pp. 537-44
Human Mutation, 29, 537-44
Human Mutation, 29, 4, pp. 537-44
Human Mutation, 29, 537-44
Contains fulltext : 70450.pdf (Publisher’s version ) (Closed access) Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized by the association of branchial and external ear malformations, hearing loss, and renal anomalies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87391de3b0cb3a3985aeaf255b9227e5
https://hdl.handle.net/2066/70450
https://hdl.handle.net/2066/70450
Publikováno v:
Cell Motility and the Cytoskeleton. 62:13-26
Mutations in the myosin-VIIa (MYO7a) gene cause human Usher disease, characterized by hearing impairment and progressive retinal degeneration. In the retina, myosin-VIIa is highly expressed in the retinal pigment epithelium, where it plays a role in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67974e6118d0adcf2ef6d2bcea499204
https://doi.org/10.1002/cm.20080
https://doi.org/10.1002/cm.20080
Autor:
August F. Deutman, Annelies Van Aarem, Cor W. R. J. Cremers, M. Wagenaar, Dana J. Orten, William J. Kimberling, Ronald J.E. Pennings, Hannie Kremer, Patrick L. M. Huygen
Publikováno v:
Acta Ophthalmologica Scandinavica. 82:131-139
PURPOSE: To evaluate visual impairment in Usher syndrome 1b (USH1b) and Usher syndrome 2a (USH2a). METHODS: We carried out a retrospective study of 19 USH1b patients and 40 USH2a patients. Cross-sectional regression analyses of the functional acuity
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f1bef723d57e9eeb4d38d1743e0f573c
https://doi.org/10.1111/j.1600-0420.2004.00234.x
https://doi.org/10.1111/j.1600-0420.2004.00234.x
Publikováno v:
Journal of Cell Science. 117:233-242
Usherin is a basement membrane protein encoded by the gene associated with Usher syndrome type IIa, the most common deaf/blind disorder. This report demonstrates a specific interaction between type IV collagen and usherin in the basement membrane, wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::340e7620e4dfcc4154cf5a4e689ed0ea
https://doi.org/10.1242/jcs.00850
https://doi.org/10.1242/jcs.00850
Publikováno v:
Journal of Biomedical Science. 3:293-306
We review the involvement of the cyclic AMP responsive DNA element (CRE) and the ATF/CREB (activating transcription factor/CRE binding protein) family of transcription factors in the regulation and pathology of clinically important viruses that infec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1cae5023d331c74bc339cf22b883977
https://doi.org/10.1007/bf02257959
https://doi.org/10.1007/bf02257959
Autor:
Steven H. Hinrichs, Judith M. Strawhecker, D. Huang, Sam D. Sanderson, Dana J. Orten, M. B. Prystowsky
Publikováno v:
Journal of Biological Chemistry. 269:32254-32263
Activating transcription factor-1 (ATF1) and cAMP response element binding protein (CREB) have been implicated in cAMP-, calcium-, and virus-induced transcriptional alterations. Although CREB and ATF1 share extensive homology, they appear to mediate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::acff36951e9325d75757448810a2df7d
https://doi.org/10.1016/s0021-9258(18)31629-6
https://doi.org/10.1016/s0021-9258(18)31629-6
Autor:
Danyang Huang, Steven H. Hinrichs, Michael B. Prystowsky, Dana J. Orten, Pierette M. Shipman-Appasamy
Publikováno v:
Molecular and Cellular Biology. 14:4233-4243
The proliferating-cell nuclear antigen (PCNA) gene encodes an auxiliary factor of DNA polymerase delta and functions in DNA replication during S phase. It is expressed at much higher levels in proliferating cells than in quiescent cells. We have stud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d8029e314b8add4ce82f3d4fb275c3bb
https://doi.org/10.1128/mcb.14.6.4233
https://doi.org/10.1128/mcb.14.6.4233
Autor:
Amit Kochhar, Dana J. Orten, Richard J.H. Smith, William J. Kimberling, Stephanie M. Fischer, Cor W. R. J. Cremers, Jessica L. Sorensen
Publikováno v:
Human mutation. 29(4)
Branchio-oto-renal syndrome (BOR) is a clinically heterogeneous autosomal dominant form of syndromic hearing loss characterized by variable hearing impairment, malformations of the pinnae, the presence of branchial arch remnants, and various renal ab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0598c81120cae3c205fdd14dc64e51f
https://pubmed.ncbi.nlm.nih.gov/18330911
https://pubmed.ncbi.nlm.nih.gov/18330911
Autor:
Jessica L. Sorensen, David L. Mandell, Richard J.H. Smith, Tulio A. Valdez, Dana J. Orten, Amit Kochhar, Tao Yang, William J. Kimberling
Publikováno v:
Otolaryngology–Head and Neck Surgery. 137
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a93be36784ab05d0287c9e45817c68f1
https://doi.org/10.1016/j.otohns.2007.06.188
https://doi.org/10.1016/j.otohns.2007.06.188
Autor:
Frans P.M. Cremers, Patrick L. M. Huygen, Michael D. Weston, Dana J. Orten, August F. Deutman, William J. Kimberling, Heleen te Brinke, Cor W. R. J. Cremers, Lies H. Hoefsloot, Henriëtte H. Weekamp, Annemarie Claassen, Ronald J.E. Pennings, Hannie Kremer, Annelies Van Aarem
Publikováno v:
Human mutation. 24(2)
Usher syndrome type II (USH2) is characterised by moderate to severe high-frequency hearing impairment, progressive visual loss due to retinitis pigmentosa and intact vestibular responses. Three loci are known for USH2, however, only the gene for USH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82b67f082ce0e5011bcc630c4922b2f1
https://pubmed.ncbi.nlm.nih.gov/15241801
https://pubmed.ncbi.nlm.nih.gov/15241801