دورية أكاديمية
أعرض في EDS

Vestibular defects in head-tilt mice result from mutations in Nox3, encoding an NADPH oxidase.

التفاصيل البيبلوغرافية
العنوان: Vestibular defects in head-tilt mice result from mutations in Nox3, encoding an NADPH oxidase.
المؤلفون: Paffenholz R; Ingenium Pharmaceuticals AG, D-82152 Martinsried, Germany., Bergstrom RA, Pasutto F, Wabnitz P, Munroe RJ, Jagla W, Heinzmann U, Marquardt A, Bareiss A, Laufs J, Russ A, Stumm G, Schimenti JC, Bergstrom DE
المصدر: Genes & development [Genes Dev] 2004 Mar 01; Vol. 18 (5), pp. 486-91. Date of Electronic Publication: 2004 Mar 10.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 8711660 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0890-9369 (Print) Linking ISSN: 08909369 NLM ISO Abbreviation: Genes Dev Subsets: MEDLINE
أسماء مطبوعة: Publication: Cold Spring Harbor, NY : Cold Spring Harbor Laboratory Press
Original Publication: [Cold Spring Harbor, N.Y.] : Cold Spring Harbor Laboratory in association with the Genetical Society of Great Britain, [c1987-
مواضيع طبية MeSH: Mutation*, NADPH Oxidases/*genetics , Vestibular Diseases/*genetics , Vestibule, Labyrinth/*abnormalities , Vestibule, Labyrinth/*enzymology, Animals ; Chromosome Mapping ; Genes, Recessive ; Gravity Sensing ; Mice ; Mice, Mutant Strains ; Morphogenesis/genetics ; NADPH Oxidases/physiology ; Proprioception ; Vestibular Diseases/enzymology ; Vestibule, Labyrinth/anatomy & histology
مستخلص: The vestibular system of the inner ear is responsible for the perception of motion and gravity. Key elements of this organ are otoconia, tiny biomineral particles in the utricle and the saccule. In response to gravity or linear acceleration, otoconia deflect the stereocilia of the hair cells, thus transducing kinetic movements into sensorineural action potentials. Here, we present an allelic series of mutations at the otoconia-deficient head tilt (het) locus, affecting the gene for NADPH oxidase 3 (Nox3). This series of mutations identifies for the first time a protein with a clear enzymatic function as indispensable for otoconia morphogenesis.
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المشرفين على المادة: EC 1.6.3.- (NADPH Oxidases)
EC 1.6.3.- (Nox3 protein, mouse)
تواريخ الأحداث: Date Created: 20040312 Date Completed: 20040505 Latest Revision: 20181113
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC374230
DOI: 10.1101/gad.1172504
PMID: 15014044
قاعدة البيانات: MEDLINE
الوصف
تدمد:0890-9369
DOI:10.1101/gad.1172504