A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice
about
Autosomal recessive nonsyndromic deafness genes: a reviewDynamic length regulation of sensory stereociliaA mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIAATP8B1 is essential for maintaining normal hearingTMHS is an integral component of the mechanotransduction machinery of cochlear hair cellsTargeted knockout and lacZ reporter expression of the mouse Tmhs deafness gene and characterization of the hscy-2J mutationCharacterization of the transcriptome of nascent hair cells and identification of direct targets of the Atoh1 transcription factorIntegration of Tmc1/2 into the mechanotransduction complex in zebrafish hair cells is regulated by Transmembrane O-methyltransferase (Tomt).The physiology of mechanoelectrical transduction channels in hearing.Rapid positional cloning of zebrafish mutations by linkage and homozygosity mapping using whole-genome sequencing.Unique transgenic animal model for hereditary hearing lossThe micromachinery of mechanotransduction in hair cells.Function and expression pattern of nonsyndromic deafness genesUncoupled embryonic and extra-embryonic tissues compromise blastocyst development after somatic cell nuclear transfer.Discovery Genetics - The History and Future of Spontaneous Mutation Research.A Multi-Breed Genome-Wide Association Analysis for Canine Hypothyroidism Identifies a Shared Major Risk Locus on CFA12.A New Role for LOC101928437 in Non-Syndromic Intellectual Disability: Findings from a Family-Based Association Test.Multiple loci influencing hippocampal degeneration identified by genome scanNovel function of LHFPL2 in female and male distal reproductive tract developmentPlanar relationships of the semicircular canals in two strains of mice.Conditional deletion of Atoh1 reveals distinct critical periods for survival and function of hair cells in the organ of Corti.Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.Molecular Identity of the Mechanotransduction Channel in Hair Cells: Not Quiet There Yet.Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome.Usher protein functions in hair cells and photoreceptors.The how and why of identifying the hair cell mechano-electrical transduction channelA zebrafish SKIV2L2-enhancer trap line provides a useful tool for the study of peripheral sensory circuit development.The molecules that mediate sensory transduction in the mammalian inner ear.The elusive mechanotransduction machinery of hair cells.Comparison of senescence-associated miRNAs in primary skin and lung fibroblasts.Glucocorticoid-induced changes in gene expression in embryonic anterior pituitary cells.Rescue of Hearing by Gene Delivery to Inner-Ear Hair Cells Using Exosome-Associated AAV.Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.Functional Analysis of the Transmembrane and Cytoplasmic Domains of Pcdh15a in Zebrafish Hair Cells.TMIE is an essential component of the mechanotransduction machinery of cochlear hair cells.An Essential Role for the Tetraspanin LHFPL4 in the Cell-Type-Specific Targeting and Clustering of Synaptic GABAA Receptors.Hair Cell Transduction, Tuning, and Synaptic Transmission in the Mammalian Cochlea.Research of genetic bases of hereditary non-syndromic hearing loss.It's All in the Delivery: Improving AAV Transfection Efficiency with Exosomes.Structure of mouse protocadherin 15 of the stereocilia tip link in complex with LHFPL5
P2860
Q24611997-13E34351-3656-4F65-8FF1-5DB94F6D1282Q24646242-15074A43-D647-477C-8C5B-063C941C75D2Q28586478-73C6FC3B-79F4-4A58-8E56-FC06F6746448Q28593592-C782296F-4F9C-4AF6-BC54-04499DD44829Q28593852-C4FA9908-147D-4109-92E2-22470A46A04FQ28594919-89EA1F4E-B33C-48A3-BB0D-2176E1F4E33DQ28650122-8A63F0E8-F8B2-4890-AAA1-B2909D400E36Q30354585-9A3A583D-ADEE-4082-9131-1C020C75D9A7Q30408022-7A4FB875-869D-4EE2-BAB7-4425B3E322C6Q30447155-451EB152-71BE-426B-A972-F8CBE1F7EEB5Q30465030-76B62CAC-572E-4586-82E9-C657F1C3BF0DQ30481576-0EF43DC4-B605-4D1D-A00E-F2D53CB20686Q30482629-FE92DF8C-2C33-4447-90D4-9D487D8E6B85Q34305387-EDB1FB19-0E70-4210-A460-676C33C4D208Q34432711-AE9C9402-C03E-4400-8099-607856729C78Q35742254-4E698CF9-3016-47EB-B2A3-99198B7DEF24Q35750032-A417E095-BFCE-419A-9495-D00F5CA9C9B7Q36116997-830B1A17-AD01-4D6D-8BF7-E0841040555DQ36675131-8CFD7A04-62C1-4874-8647-A28C008A6BEDQ36824610-51611F1C-A95E-4206-BA5D-9575D0D56670Q36928484-EF7E7B5D-D31E-4BEF-8402-ABAC975ABA29Q36930179-87EDADFB-E711-4784-B632-A2C1386656DCQ37398454-1089CD90-65B5-4FA3-A75F-63B807356F92Q37571750-3818AA36-C2FF-476A-A670-577090B53839Q37677127-DF306038-2382-4881-8FC5-6279C0D49258Q38252947-FA74FE86-5C4A-4116-9195-5FED9346C3FBQ38270609-A03B3E1A-4F1A-484B-BA30-6DC9348AD122Q38556046-95D94249-D694-4022-8E13-7621F6861F66Q38581411-F5C6D61A-A3DB-470E-88B7-878DAA48A423Q38907748-F556C714-1CD1-40EB-9237-DEA91CCA531BQ39437414-C2D6BB83-5023-4ECA-B0B6-5FB9EA1F1C31Q40383155-FF4D4052-C31F-4DF3-90E2-E6E21EFB38E2Q41091624-8F1D4DD1-910C-4D69-A2E1-A4FB119506FAQ41700384-E1122B58-050A-4AC0-B8D8-B1C40A0CFBBEQ41865763-9125F15E-7671-43C3-B65C-AC5327A51145Q42377342-DA03476B-FE87-451F-87E6-6F27D049554BQ42618413-CC29048F-00B7-4AC3-B4AD-B594A316459DQ47135798-BABAF85E-2B9B-4517-96D3-766101605475Q50312575-6EBDA5B5-E2F7-4A8F-9ACC-A7C88620B494Q56530447-0A5B8D55-B40D-4CDE-B2B3-87706399C913
P2860
A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice
description
2005 nî lūn-bûn
@nan
2005 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
A missense mutation in the pre ...... ss in hurry-scurry (hscy) mice
@ast
A missense mutation in the pre ...... ss in hurry-scurry (hscy) mice
@en
A missense mutation in the pre ...... ss in hurry-scurry (hscy) mice
@en-gb
A missense mutation in the pre ...... ss in hurry-scurry (hscy) mice
@nl
type
label
A missense mutation in the pre ...... ss in hurry-scurry (hscy) mice
@ast
A missense mutation in the pre ...... ss in hurry-scurry (hscy) mice
@en
A missense mutation in the pre ...... ss in hurry-scurry (hscy) mice
@en-gb
A missense mutation in the pre ...... ss in hurry-scurry (hscy) mice
@nl
prefLabel
A missense mutation in the pre ...... ss in hurry-scurry (hscy) mice
@ast
A missense mutation in the pre ...... ss in hurry-scurry (hscy) mice
@en
A missense mutation in the pre ...... ss in hurry-scurry (hscy) mice
@en-gb
A missense mutation in the pre ...... ss in hurry-scurry (hscy) mice
@nl
P2093
P2860
P356
P1476
A missense mutation in the pre ...... ss in hurry-scurry (hscy) mice
@en
P2093
Chantal M Longo-Guess
Kenneth R Johnson
Leona H Gagnon
Qing Y Zheng
Susan A Cook
P2860
P304
P356
10.1073/PNAS.0500760102
P407
P577
2005-05-19T00:00:00Z