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One feature of skin mechanoreceptors in mammals is their high sensitivity and speed. We show here that an ion channel that passes calcium ions following very small membrane depolarization caused by tactile stimuli acts as an amplifier increasing mechanoreceptor sensitivity. We also show that this calcium ion channel, called Cav3.2, only amplifies mechanosensory signals in a subset of touch receptors which happen to be several-fold more sensitive than other specialized mechanoreceptors. Thus, the expression of one specific calcium channel serves especially to increase the speed of tactile encoding. The special sensitivity and high speed of these touch receptors may enable animals and humans to react very rapidly to tactile stimuli that guide movement.In mammals there are three types of low-voltage-activated (LVA) calcium channels, Cav3.1, Cav3.2 and Cav3.3, which all give rise to T-type Ca2+currents. T-type Ca2+currents have long been known to be highly enriched in a sub-population of medium-sized sensory neurones in the dorsal root ganglia (DRG). However, the identity of the T-type-rich sensory neurones has remained controversial and the precise physiological role of the Cav3.2 calcium channel in these sensory neurones has not been directly addressed. Here we show, using Cav3.2−/− mutant mice, that these channels are essential for the normal temporal coding of moving stimuli by specialized skin mechanoreceptors called D-hair receptors. We show that D-hair receptors from Cav3.2−/− fire approximately 50% fewer spikes in response to ramp-and-hold displacement stimuli compared to wild type receptors. The reduced sensitivity of D-hair receptors in Cav3.2−/− mice is chiefly due to an increase in the mechanical threshold and a substantial temporal delay in the onset of high-frequency firing to moving stimuli. We examined the receptive properties of other cutaneous mechanoreceptors and Aδ- and C-fibre nociceptors in Cav3.2−/− mice, but found no alteration in their mechanosensitivity compared to Cav3.2+/+ mice. However, C-fibre nociceptors recorded in Cav3.2−/− mutant mice displayed a small but statistically significant reduction in their spiking rate during noxious heat ramps when compared to C-fibres in control mice. The T-type calcium channel Cav3.2 is thus not only a highly specific marker of D-hair receptors but is also required to maintain their high sensitivity and above all to ensure ultra rapid temporal detection of skin movement.", "publicationTitle": "The Journal of Physiology", "publisher": "", "place": "", "date": "May 01 , 2011", "volume": "589", "issue": "9", "section": "", "partNumber": "", "partTitle": "", "pages": "2229 -2243", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "", "DOI": "10.1113/jphysiol.2010.203463", "citationKey": "", "url": "http://jp.physoc.org/content/589/9/2229.abstract", "accessDate": "2011-05-31T20:03:33Z", "PMID": "", "PMCID": "", "ISSN": "", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "Highwire 2.0", "callNumber": "", "rights": "", "extra": "", "tags": [], "collections": [], "relations": {}, "dateAdded": "2011-05-31T20:03:33Z", "dateModified": "2011-05-31T20:03:33Z" } }, { "key": "WFP7BVND", "version": 7532, "library": { "type": "group", "id": 36416, "name": "Myosin7a", "links": { "alternate": { "href": "https://www.zotero.org/groups/myosin7a", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/36416/items/WFP7BVND", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/myosin7a/items/WFP7BVND", "type": "text/html" }, "up": { "href": "https://api.zotero.org/groups/36416/items/AQV2VPPP", "type": "application/json" } }, "meta": { "createdByUser": { "id": 485257, "username": "h.frenzel", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/h.frenzel", "type": "text/html" } } }, "lastModifiedByUser": { "id": 283300, "username": "glewin", "name": "Gary Lewin", "links": { "alternate": { "href": "https://www.zotero.org/glewin", "type": "text/html" } } } }, "data": { "key": "WFP7BVND", "version": 7532, "parentItem": "AQV2VPPP", "itemType": "attachment", "linkMode": "imported_url", "title": "Nature Snapshot", "accessDate": "2011-04-05T12:03:00Z", "url": "http://www.nature.com/emboj/journal/v28/n9/full/emboj200957a.html", "note": "", "contentType": "text/html", "charset": "utf-8", "filename": "emboj200957a.html", "md5": "4abff6b323573e26d576cbad1ff6ac52", "mtime": 1302004982000, "tags": [], "relations": {}, "dateAdded": "2011-05-23T09:12:16Z", "dateModified": "2011-05-23T13:27:01Z" } }, { "key": "TF9FXDJU", "version": 7532, "library": { "type": "group", "id": 36416, "name": "Myosin7a", "links": { "alternate": { "href": "https://www.zotero.org/groups/myosin7a", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/36416/items/TF9FXDJU", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/myosin7a/items/TF9FXDJU", "type": "text/html" }, "up": { "href": "https://api.zotero.org/groups/36416/items/3M4T2VM8", "type": "application/json" } }, "meta": { "createdByUser": { "id": 485257, "username": "h.frenzel", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/h.frenzel", "type": "text/html" } } }, "lastModifiedByUser": { "id": 283300, "username": "glewin", "name": "Gary Lewin", "links": { "alternate": { "href": "https://www.zotero.org/glewin", "type": "text/html" } } } }, "data": { "key": "TF9FXDJU", "version": 7532, "parentItem": "3M4T2VM8", "itemType": "attachment", "linkMode": "imported_url", "title": "Snapshot", "accessDate": "2011-04-05T12:05:21Z", "url": "http://www.jneurosci.org/content/25/5/1304.long", "note": "", "contentType": "text/html", "charset": "utf-8", "filename": "1304.html", "md5": "c6d74f59c073131c7b3744721b214cca", "mtime": 1302005122000, "tags": [], "relations": {}, "dateAdded": "2011-05-23T09:10:48Z", "dateModified": "2011-05-23T13:27:01Z" } }, { "key": "7VXNJUJP", "version": 1, "library": { "type": "group", "id": 36416, "name": "Myosin7a", "links": { "alternate": { "href": "https://www.zotero.org/groups/myosin7a", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/36416/items/7VXNJUJP", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/myosin7a/items/7VXNJUJP", "type": "text/html" }, "up": { "href": "https://api.zotero.org/groups/36416/items/3M4T2VM8", "type": "application/json" } }, "meta": { "createdByUser": { "id": 485257, "username": "h.frenzel", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/h.frenzel", "type": "text/html" } } }, "numChildren": 0 }, "data": { "key": "7VXNJUJP", "version": 1, "parentItem": "3M4T2VM8", "itemType": "attachment", "linkMode": "imported_url", "title": "Full Text PDF", "accessDate": "2011-04-05T12:05:20Z", "url": "http://www.jneurosci.org/content/25/5/1304.full.pdf", "note": "", "contentType": "application/pdf", "charset": "", "filename": "Lee et al. - 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2009 - The mechano-activated K+ channels TRAAK and TREK-1.pdf", "md5": "6d6233294535a889f2700715aeb64810", "mtime": 1302004982256, "tags": [], "relations": {}, "dateAdded": "2011-05-23T09:12:16Z", "dateModified": "2011-05-23T13:27:01Z" } }, { "key": "AQV2VPPP", "version": 1, "library": { "type": "group", "id": 36416, "name": "Myosin7a", "links": { "alternate": { "href": "https://www.zotero.org/groups/myosin7a", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/36416/items/AQV2VPPP", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/myosin7a/items/AQV2VPPP", "type": "text/html" } }, "meta": { "createdByUser": { "id": 485257, "username": "h.frenzel", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/h.frenzel", "type": "text/html" } } }, "creatorSummary": "Noel et al.", "parsedDate": "2009-05-06", "numChildren": 2 }, "data": { "key": "AQV2VPPP", "version": 1, "itemType": "journalArticle", "title": "The mechano-activated K+ channels TRAAK and TREK-1 control both warm and cold perception", "creators": [ { "creatorType": "author", "firstName": "Jacques", "lastName": "Noel" }, { "creatorType": "author", "firstName": "Katharina", "lastName": "Zimmermann" }, { "creatorType": "author", "firstName": "Jerome", "lastName": "Busserolles" }, { "creatorType": "author", "firstName": "Emanuel", "lastName": "Deval" }, { "creatorType": "author", "firstName": "Abdelkrim", "lastName": "Alloui" }, { "creatorType": "author", "firstName": "Sylvie", "lastName": "Diochot" }, { "creatorType": "author", "firstName": "Nicolas", "lastName": "Guy" }, { "creatorType": "author", "firstName": "Marc", "lastName": "Borsotto" }, { "creatorType": "author", "firstName": "Peter", "lastName": "Reeh" }, { "creatorType": "author", "firstName": "Alain", "lastName": "Eschalier" }, { "creatorType": "author", "firstName": "Michel", "lastName": "Lazdunski" } ], "abstractNote": "", "publicationTitle": "EMBO J", "publisher": "", "place": "", "date": "May 06, 2009", "volume": "28", "issue": "9", "section": "", "partNumber": "", "partTitle": "", "pages": "1308-1318", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "EMBO J", "DOI": "10.1038/emboj.2009.57", "citationKey": "", "url": "http://dx.doi.org/10.1038/emboj.2009.57", "accessDate": "2011-04-05T12:02:58Z", "PMID": "", "PMCID": "", "ISSN": "0261-4189", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "Nature", "callNumber": "", "rights": "", "extra": "", "tags": [], "collections": [], "relations": {}, "dateAdded": "2011-05-23T09:12:16Z", "dateModified": "2011-05-23T09:12:16Z" } }, { "key": "6BMSAJTT", "version": 1, "library": { "type": "group", "id": 36416, "name": "Myosin7a", "links": { "alternate": { "href": "https://www.zotero.org/groups/myosin7a", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/36416/items/6BMSAJTT", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/myosin7a/items/6BMSAJTT", "type": "text/html" }, "up": { "href": "https://api.zotero.org/groups/36416/items/TBBIXUK6", "type": "application/json" } }, "meta": { "createdByUser": { "id": 485257, "username": "h.frenzel", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/h.frenzel", "type": "text/html" } } } }, "data": { "key": "6BMSAJTT", "version": 1, "parentItem": "TBBIXUK6", "itemType": "attachment", "linkMode": "linked_url", "title": "query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17481391", "accessDate": "2011-01-20T14:09:31Z", "url": "http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17481391", "note": "", "contentType": "", "charset": "", "tags": [], "relations": {}, "dateAdded": "2011-05-23T09:11:39Z", "dateModified": "2011-05-23T09:11:39Z" } }, { "key": "6WN9BGTZ", "version": 1, "library": { "type": "group", "id": 36416, "name": "Myosin7a", "links": { "alternate": { "href": "https://www.zotero.org/groups/myosin7a", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/36416/items/6WN9BGTZ", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/myosin7a/items/6WN9BGTZ", "type": "text/html" }, "up": { "href": "https://api.zotero.org/groups/36416/items/TBBIXUK6", "type": "application/json" } }, "meta": { "createdByUser": { "id": 485257, "username": "h.frenzel", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/h.frenzel", "type": "text/html" } } }, "numChildren": 0 }, "data": { "key": "6WN9BGTZ", "version": 1, "parentItem": "TBBIXUK6", "itemType": "note", "note": "ThermoTRPs, a subset of the Transient Receptor Potential (TRP) family of cation channels, have been implicated in sensing temperature. TRPM8 and TRPA1 are both activated by cooling; however, it is unclear whether either ion channel is required for thermosensation in vivo. We show that mice lacking TRPM8 have severe behavioral deficits in response to cold stimuli. In thermotaxis assays of temperature gradient and two-temperature choice assays, TRPM8-deficient mice exhibit strikingly reduced avoidance of cold temperatures. TRPM8-deficient mice also lack behavioral response to cold-inducing icilin application and display an attenuated response to acetone, an unpleasant cold stimulus. However, TRPM8-deficient mice have normal nociceptive-like responses to subzero centigrade temperatures, suggesting the presence of at least one additional noxious cold receptor. Finally, we show that TRPM8 mediates the analgesic effect of moderate cooling after administration of formalin, a painful stimulus. Therefore, depending on context, TRPM8 contributes to sensing unpleasant cold stimuli or mediating the effects of cold analgesia.", "tags": [], "relations": {}, "dateAdded": "2011-05-23T09:11:39Z", "dateModified": "2011-05-23T09:11:39Z" } }, { "key": "W93S647P", "version": 1, "library": { "type": "group", "id": 36416, "name": "Myosin7a", "links": { "alternate": { "href": "https://www.zotero.org/groups/myosin7a", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/36416/items/W93S647P", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/myosin7a/items/W93S647P", "type": "text/html" }, "up": { "href": "https://api.zotero.org/groups/36416/items/TBBIXUK6", "type": "application/json" } }, "meta": { "createdByUser": { "id": 485257, "username": "h.frenzel", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/h.frenzel", "type": "text/html" } } }, "numChildren": 0 }, "data": { "key": "W93S647P", "version": 1, "parentItem": "TBBIXUK6", "itemType": "note", "note": "Dhaka, Ajay\nMurray, Amber N\nMathur, Jayanti\nEarley, Taryn J\nPetrus, Matt J\nPatapoutian, Ardem\nNS046303/NS/NINDS NIH HHS/United States\nNS049104/NS/NINDS NIH HHS/United States\nResearch Support, N.I.H., Extramural\nResearch Support, Non-U.S. Gov't\nUnited States\nNeuron\nNeuron. 2007 May 3;54(3):371-8.", "tags": [], "relations": {}, "dateAdded": "2011-05-23T09:11:39Z", "dateModified": "2011-05-23T09:11:39Z" } }, { "key": "TBBIXUK6", "version": 1, "library": { "type": "group", "id": 36416, "name": "Myosin7a", "links": { "alternate": { "href": "https://www.zotero.org/groups/myosin7a", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/36416/items/TBBIXUK6", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/myosin7a/items/TBBIXUK6", "type": "text/html" } }, "meta": { "createdByUser": { "id": 485257, "username": "h.frenzel", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/h.frenzel", "type": "text/html" } } }, "creatorSummary": "Dhaka et al.", "parsedDate": "2007", "numChildren": 3 }, "data": { "key": "TBBIXUK6", "version": 1, "itemType": "journalArticle", "title": "TRPM8 is required for cold sensation in mice", "creators": [ { "creatorType": "author", "firstName": "A.", "lastName": "Dhaka" }, { "creatorType": "author", "firstName": "A. N.", "lastName": "Murray" }, { "creatorType": "author", "firstName": "J.", "lastName": "Mathur" }, { "creatorType": "author", "firstName": "T. J.", "lastName": "Earley" }, { "creatorType": "author", "firstName": "M. J.", "lastName": "Petrus" }, { "creatorType": "author", "firstName": "A.", "lastName": "Patapoutian" } ], "abstractNote": "", "publicationTitle": "Neuron", "publisher": "", "place": "", "date": "2007", "volume": "54", "issue": "", "section": "", "partNumber": "", "partTitle": "", "pages": "371-8", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "", "DOI": "", "citationKey": "", "url": "http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17481391", "accessDate": "", "PMID": "", "PMCID": "", "ISSN": "0896-6273 (Print) 0896-6273 (Linking)", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "", "callNumber": "", "rights": "", "extra": "3", "tags": [ { "tag": "*Cold Temperature" }, { "tag": "Animals" }, { "tag": "Behavior, Animal/physiology" }, { "tag": "Calcium/metabolism" }, { "tag": "Choice Behavior/drug effects/physiology" }, { "tag": "Formaldehyde/pharmacology" }, { "tag": "Mice" }, { "tag": "Mice, Knockout" }, { "tag": "Pain Measurement/methods" }, { "tag": "Pyrimidinones/pharmacology" }, { "tag": "Reaction Time/drug effects/physiology" }, { "tag": "Sensory Thresholds/drug effects/physiology" }, { "tag": "TRPM Cation Channels/deficiency/*physiology" }, { "tag": "Temperature Sense/*physiology" }, { "tag": "Time Factors" } ], "collections": [], "relations": {}, "dateAdded": "2011-05-23T09:11:39Z", "dateModified": "2011-05-23T09:11:39Z" } }, { "key": "3M4T2VM8", "version": 1, "library": { "type": "group", "id": 36416, "name": "Myosin7a", "links": { "alternate": { "href": "https://www.zotero.org/groups/myosin7a", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/36416/items/3M4T2VM8", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/myosin7a/items/3M4T2VM8", "type": "text/html" } }, "meta": { "createdByUser": { "id": 485257, "username": "h.frenzel", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/h.frenzel", "type": "text/html" } } }, "creatorSummary": "Lee et al.", "parsedDate": "2005-02-02", "numChildren": 2 }, "data": { "key": "3M4T2VM8", "version": 1, "itemType": "journalArticle", "title": "Altered Thermal Selection Behavior in Mice Lacking Transient Receptor Potential Vanilloid 4", "creators": [ { "creatorType": "author", "firstName": "Hyosang", "lastName": "Lee" }, { "creatorType": "author", "firstName": "Tohko", "lastName": "Iida" }, { "creatorType": "author", "firstName": "Atsuko", "lastName": "Mizuno" }, { "creatorType": "author", "firstName": "Makoto", "lastName": "Suzuki" }, { "creatorType": "author", "firstName": "Michael J.", "lastName": "Caterina" } ], "abstractNote": "Transient receptor potential vanilloid 4 (TRPV4), a cation channel responsive to hypotonicity, can also be activated by warm temperatures. Moreover, TRPV4-/- mice reportedly exhibit deficits in inflammation-induced thermal hyperalgesia. However, it is unknown whether TRPV4 or related transient receptor potential channels account for warmth perception under injury-free conditions. We therefore investigated the contribution of TRPV4 to thermosensation and thermoregulation in vivo. On a thermal gradient, TRPV4-/- mice selected warmer floor temperatures than wild-type littermates. In addition, whereas wild-type mice failed to discriminate between floor temperatures of 30 and 34°C, TRPV4-/- mice exhibited a strong preference for 34°C. TRPV4-/- mice also exhibited prolonged withdrawal latencies during acute tail heating. TRPV4-/- and wild-type mice exhibited similar changes in behavior on a thermal gradient after paw inflammation. Circadian body temperature fluctuations and thermoregulation in a warm environment were also indistinguishable between genotypes. These results demonstrate that TRPV4 is required for normal thermal responsiveness in vivo.", "publicationTitle": "The Journal of Neuroscience", "publisher": "", "place": "", "date": "February 02 , 2005", "volume": "25", "issue": "5", "section": "", "partNumber": "", "partTitle": "", "pages": "1304 -1310", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "", "DOI": "10.1523/JNEUROSCI.4745.04.2005", "citationKey": "", "url": "http://www.jneurosci.org/content/25/5/1304.abstract", "accessDate": "2011-04-05T12:05:18Z", "PMID": "", "PMCID": "", "ISSN": "", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "Highwire 2.0", "callNumber": "", "rights": "", "extra": "", "tags": [], "collections": [], "relations": {}, "dateAdded": "2011-05-23T09:10:48Z", "dateModified": "2011-05-23T09:10:48Z" } }, { "key": "37RG4H2K", "version": 1, "library": { "type": "group", "id": 36416, "name": "Myosin7a", "links": { "alternate": { "href": "https://www.zotero.org/groups/myosin7a", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/36416/items/37RG4H2K", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/myosin7a/items/37RG4H2K", "type": "text/html" }, "up": { "href": "https://api.zotero.org/groups/36416/items/ESAVGRQ5", "type": "application/json" } }, "meta": { "createdByUser": { "id": 485257, "username": "h.frenzel", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/h.frenzel", "type": "text/html" } } }, "lastModifiedByUser": { "id": 283300, "username": "glewin", "name": "Gary Lewin", "links": { "alternate": { "href": "https://www.zotero.org/glewin", "type": "text/html" } } }, "numChildren": 0 }, "data": { "key": "37RG4H2K", "version": 1, "parentItem": "ESAVGRQ5", "itemType": "note", "note": "

Yan, Denise Liu, Xue Z DC 05575/DC/NIDCD NIH HHS/United States Research Support, N.I.H., Extramural Review Japan Journal of human genetics J Hum Genet. 2010 Jun;55(6):327-35. Epub 2010 Apr 9.

", "tags": [], "relations": {}, "dateAdded": "2011-02-16T09:07:32Z", "dateModified": "2011-04-05T20:44:34Z" } }, { "key": "2MNDRW6S", "version": 1, "library": { "type": "group", "id": 36416, "name": "Myosin7a", "links": { "alternate": { "href": "https://www.zotero.org/groups/myosin7a", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/36416/items/2MNDRW6S", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/myosin7a/items/2MNDRW6S", "type": "text/html" }, "up": { "href": "https://api.zotero.org/groups/36416/items/ESAVGRQ5", "type": "application/json" } }, "meta": { "createdByUser": { "id": 485257, "username": "h.frenzel", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/h.frenzel", "type": "text/html" } } }, "lastModifiedByUser": { "id": 283300, "username": "glewin", "name": "Gary Lewin", "links": { "alternate": { "href": "https://www.zotero.org/glewin", "type": "text/html" } } }, "numChildren": 0 }, "data": { "key": "2MNDRW6S", "version": 1, "parentItem": "ESAVGRQ5", "itemType": "note", "note": "

Usher syndrome (USH) comprises a group of autosomal recessively inherited disorders characterized by a dual sensory impairment of the audiovestibular and visual systems. Three major clinical subtypes (USH type I, USH type II and USH type III) are distinguished on the basis of the severity of the hearing loss, the presence or absence of vestibular dysfunction and the age of onset of retinitis pigmentosa (RP). Since the cloning of the first USH gene (MYO7A) in 1995, there have been remarkable advances in elucidating the genetic basis for this disorder, as evidence for 11 distinct loci have been obtained and genes for 9 of them have been identified. The USH genes encode proteins of different classes and families, including motor proteins, scaffold proteins, cell adhesion molecules and transmembrane receptor proteins. Extensive information has emerged from mouse models and molecular studies regarding pathogenesis of this disorder and the wide phenotypic variation in both audiovestibular and/or visual function. A unifying hypothesis is that the USH proteins are integrated into a protein network that regulates hair bundle morphogenesis in the inner ear. This review addresses genetics and pathological mechanisms of USH. Understanding the molecular basis of phenotypic variation and pathogenesis of USH is important toward discovery of new molecular targets for diagnosis, prevention and treatment of this debilitating disorder.

", "tags": [], "relations": {}, "dateAdded": "2011-02-16T09:07:32Z", "dateModified": "2011-04-05T20:44:26Z" } }, { "key": "VI4DJDKX", "version": 1, "library": { "type": "group", "id": 36416, "name": "Myosin7a", "links": { "alternate": { "href": "https://www.zotero.org/groups/myosin7a", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/36416/items/VI4DJDKX", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/myosin7a/items/VI4DJDKX", "type": "text/html" } }, "meta": { "createdByUser": { "id": 485257, "username": "h.frenzel", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/h.frenzel", "type": "text/html" } } }, "creatorSummary": "Luciano et al.", "parsedDate": "2002-11", "numChildren": 0 }, "data": { "key": "VI4DJDKX", "version": 1, "itemType": "journalArticle", "title": "Physiological characterization of neuropathy in Fabry's disease", "creators": [ { "creatorType": "author", "firstName": "Carlos A", "lastName": "Luciano" }, { "creatorType": "author", "firstName": "James W", "lastName": "Russell" }, { "creatorType": "author", "firstName": "Tapas K", "lastName": "Banerjee" }, { "creatorType": "author", "firstName": "Jane M", "lastName": "Quirk" }, { "creatorType": "author", "firstName": "Leland J C", "lastName": "Scott" }, { "creatorType": "author", "firstName": "James M", "lastName": "Dambrosia" }, { "creatorType": "author", "firstName": "Norman W", "lastName": "Barton" }, { "creatorType": "author", "firstName": "Raphael", "lastName": "Schiffmann" } ], "abstractNote": "Fabry's disease is commonly associated with a painful, debilitating neuropathy. Characterization of the physiological abnormalities is an important step in evaluating response to specific therapies. Twenty-two patients with Fabry's disease, and with relatively preserved renal function, underwent conventional and near-nerve conduction studies, electromyography, sympathetic skin responses, and quantitative sensory testing (QST). Nerve conduction studies were mostly normal except for an increased frequency of median nerve entrapment at the wrist in 6 (27%) patients. Sympathetic skin responses were preserved in 19 of 20 (95%) of the patients. The QST showed increased or immeasurable cold and warm detection thresholds in patients, significantly different from controls (n = 28) in the hand (P < 0.001, P = 0.04, respectively) and foot (P < 0.001 for both). Cold thresholds were more often abnormal than were warm thresholds. Vibration thresholds were normal in the feet and, in some patients, elevated in the hand only, probably due to frequent median nerve entrapment at the wrist. Our findings suggest that the neuropathy of Fabry's disease is characterized by an increased prevalence of median nerve entrapment at the wrist and by thermal afferent fiber dysfunction in a length-dependent fashion, with greater impairment of cold than warm sensation.", "publicationTitle": "Muscle & Nerve", "publisher": "", "place": "", "date": "Nov 2002", "volume": "26", "issue": "5", "section": "", "partNumber": "", "partTitle": "", "pages": "622-629", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "Muscle Nerve", "DOI": "10.1002/mus.10236", "citationKey": "", "url": "http://www.ncbi.nlm.nih.gov/pubmed/12402283", "accessDate": "2011-04-05T10:57:34Z", "PMID": "", "PMCID": "", "ISSN": "0148-639X", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "NCBI PubMed", "callNumber": "", "rights": "", "extra": "PMID: 12402283", "tags": [ { "tag": "Adult", "type": 1 }, { "tag": "Fabry Disease", "type": 1 }, { "tag": "Female", "type": 1 }, { "tag": "Humans", "type": 1 }, { "tag": "Male", "type": 1 }, { "tag": "Mechanoreceptors", "type": 1 }, { "tag": "Middle Aged", "type": 1 }, { "tag": "Nerve Fibers, Myelinated", "type": 1 }, { "tag": "Nerve Fibers, Unmyelinated", "type": 1 }, { "tag": "Neural Conduction", "type": 1 }, { "tag": "Peripheral Nerves", "type": 1 }, { "tag": "Peripheral Nervous System Diseases", "type": 1 }, { "tag": "Sensory Thresholds", "type": 1 }, { "tag": "Sympathetic Fibers, Postganglionic", "type": 1 }, { "tag": "Thermosensing", "type": 1 } ], "collections": [], "relations": {}, "dateAdded": "2011-04-05T10:57:34Z", "dateModified": "2011-04-05T10:57:34Z" } }, { "key": "9HQBS8XB", "version": 1, "library": { "type": "group", "id": 36416, "name": "Myosin7a", "links": { "alternate": { "href": "https://www.zotero.org/groups/myosin7a", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/36416/items/9HQBS8XB", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/myosin7a/items/9HQBS8XB", "type": "text/html" }, "up": { "href": "https://api.zotero.org/groups/36416/items/TPGMB7PI", "type": "application/json" } }, "meta": { "createdByUser": { "id": 485257, "username": "h.frenzel", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/h.frenzel", "type": "text/html" } } }, "numChildren": 0 }, "data": { "key": "9HQBS8XB", "version": 1, "parentItem": "TPGMB7PI", "itemType": "attachment", "linkMode": "imported_url", "title": "Full Text PDF", "accessDate": "2011-04-05T10:56:26Z", "url": "http://care.diabetesjournals.org/content/27/5/1153.full.pdf", "note": "", "contentType": "application/pdf", "charset": "", "filename": "Brown et al. - 2004 - Natural Progression of Diabetic Peripheral Neuropa.pdf", "md5": "407a3c191caffb9a37c0b459297045f0", "mtime": 1302000989243, "tags": [], "relations": {}, "dateAdded": "2011-04-05T10:56:26Z", "dateModified": "2011-04-05T10:56:56Z" } }, { "key": "TPGMB7PI", "version": 1, "library": { "type": "group", "id": 36416, "name": "Myosin7a", "links": { "alternate": { "href": "https://www.zotero.org/groups/myosin7a", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/36416/items/TPGMB7PI", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/myosin7a/items/TPGMB7PI", "type": "text/html" } }, "meta": { "createdByUser": { "id": 485257, "username": "h.frenzel", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/h.frenzel", "type": "text/html" } } }, "creatorSummary": "Brown et al.", "parsedDate": "2004-05-01", "numChildren": 1 }, "data": { "key": "TPGMB7PI", "version": 1, "itemType": "journalArticle", "title": "Natural Progression of Diabetic Peripheral Neuropathy in the Zenarestat Study Population", "creators": [ { "creatorType": "author", "firstName": "Mark J.", "lastName": "Brown" }, { "creatorType": "author", "firstName": "Shawn J.", "lastName": "Bird" }, { "creatorType": "author", "firstName": "Sharon", "lastName": "Watling" }, { "creatorType": "author", "firstName": "Hong", "lastName": "Kaleta" }, { "creatorType": "author", "firstName": "Lee", "lastName": "Hayes" }, { "creatorType": "author", "firstName": "Stephen", "lastName": "Eckert" }, { "creatorType": "author", "firstName": "Howard L.", "lastName": "Foyt" } ], "abstractNote": "OBJECTIVE—The aim of this study was to report the baseline and natural progression of diabetic peripheral neuropathy over 12 months in a large mild-to-moderate neuropathy population.RESEARCH DESIGN AND METHODS—Patients from a multicentered trial of zenarestat, an aldose reductase inhibitor, had serial measures of neurologic function, including nerve conduction studies (NCSs), quantitative sensory testing (QST), and clinical neuropathy rating scores at baseline and at 12 months. Baseline population descriptors and changes in neurologic function in placebo-treated patients were analyzed.RESULTS—Sural sensory velocity (P = 0.0008 [95% CI −1.04 to −0.27]), median sensory amplitude (P = 0.0021 [−1.3 to −0.29]), median distal motor latency (P = 0.002 [0.09–0.28]), cool thermal QST (P = 0.0005 [0.27–0.94]), and Michigan Neuropathy Screening Instrument results (P = 0.0087 [0.04–0.30]) declined significantly from baseline in the placebo population. NCS changes from baseline were independent of baseline HbA1c stratification.CONCLUSIONS—The neurologic decline over 12 months is evident when measured by NCS and cool thermal QST. Other measures (vibration QST, neuropathy rating scores, monofilament examination) are insensitive to changes over 12 months in a mild-to-moderate affected population of this size.", "publicationTitle": "Diabetes Care", "publisher": "", "place": "", "date": "May 01 , 2004", "volume": "27", "issue": "5", "section": "", "partNumber": "", "partTitle": "", "pages": "1153 -1159", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "", "DOI": "10.2337/diacare.27.5.1153", "citationKey": "", "url": "http://care.diabetesjournals.org/content/27/5/1153.abstract", "accessDate": "2011-04-05T10:56:21Z", "PMID": "", "PMCID": "", "ISSN": "", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "Highwire 2.0", "callNumber": "", "rights": "", "extra": "", "tags": [], "collections": [], "relations": {}, "dateAdded": "2011-04-05T10:56:21Z", "dateModified": "2011-04-05T10:56:21Z" } }, { "key": "M324KFBD", "version": 7533, "library": { "type": "group", "id": 36416, "name": "Myosin7a", "links": { "alternate": { "href": "https://www.zotero.org/groups/myosin7a", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/36416/items/M324KFBD", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/myosin7a/items/M324KFBD", "type": "text/html" }, "up": { "href": "https://api.zotero.org/groups/36416/items/SGBBQD4W", "type": "application/json" } }, "meta": { "createdByUser": { "id": 485257, "username": "h.frenzel", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/h.frenzel", "type": "text/html" } } }, "lastModifiedByUser": { "id": 283300, "username": "glewin", "name": "Gary Lewin", "links": { "alternate": { "href": "https://www.zotero.org/glewin", "type": "text/html" } } } }, "data": { "key": "M324KFBD", "version": 7533, "parentItem": "SGBBQD4W", "itemType": "attachment", "linkMode": "imported_url", "title": "Snapshot", "accessDate": "2011-04-05T08:50:18Z", "url": "http://care.diabetesjournals.org/content/27/5/1153.long", "note": "", "contentType": "text/html", "charset": "utf-8", "filename": "1153.html", "md5": "de423aa00b52ba0f250400bf8863d953", "mtime": 1301993420000, "tags": [], "relations": {}, "dateAdded": "2011-04-05T08:50:18Z", "dateModified": "2011-04-05T08:50:39Z" } }, { "key": "3AD6QGRT", "version": 1, "library": { "type": "group", "id": 36416, "name": "Myosin7a", "links": { "alternate": { "href": "https://www.zotero.org/groups/myosin7a", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/36416/items/3AD6QGRT", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/myosin7a/items/3AD6QGRT", "type": "text/html" }, "up": { "href": "https://api.zotero.org/groups/36416/items/SGBBQD4W", "type": "application/json" } }, "meta": { "createdByUser": { "id": 485257, "username": "h.frenzel", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/h.frenzel", "type": "text/html" } } }, "numChildren": 0 }, "data": { "key": "3AD6QGRT", "version": 1, "parentItem": "SGBBQD4W", "itemType": "attachment", "linkMode": "imported_url", "title": "Full Text PDF", "accessDate": "2011-04-05T08:50:16Z", "url": "http://care.diabetesjournals.org/content/27/5/1153.full.pdf", "note": "", "contentType": "application/pdf", "charset": "", "filename": "Brown et al. - 2004 - Natural Progression of Diabetic Peripheral Neuropa.pdf", "md5": "407a3c191caffb9a37c0b459297045f0", "mtime": 1301993419501, "tags": [], "relations": {}, "dateAdded": "2011-04-05T08:50:16Z", "dateModified": "2011-04-05T08:50:39Z" } }, { "key": "SGBBQD4W", "version": 1, "library": { "type": "group", "id": 36416, "name": "Myosin7a", "links": { "alternate": { "href": "https://www.zotero.org/groups/myosin7a", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/36416/items/SGBBQD4W", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/myosin7a/items/SGBBQD4W", "type": "text/html" } }, "meta": { "createdByUser": { "id": 485257, "username": "h.frenzel", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/h.frenzel", "type": "text/html" } } }, "creatorSummary": "Brown et al.", "parsedDate": "2004-05-01", "numChildren": 2 }, "data": { "key": "SGBBQD4W", "version": 1, "itemType": "journalArticle", "title": "Natural Progression of Diabetic Peripheral Neuropathy in the Zenarestat Study Population", "creators": [ { "creatorType": "author", "firstName": "Mark J.", "lastName": "Brown" }, { "creatorType": "author", "firstName": "Shawn J.", "lastName": "Bird" }, { "creatorType": "author", "firstName": "Sharon", "lastName": "Watling" }, { "creatorType": "author", "firstName": "Hong", "lastName": "Kaleta" }, { "creatorType": "author", "firstName": "Lee", "lastName": "Hayes" }, { "creatorType": "author", "firstName": "Stephen", "lastName": "Eckert" }, { "creatorType": "author", "firstName": "Howard L.", "lastName": "Foyt" } ], "abstractNote": "OBJECTIVE—The aim of this study was to report the baseline and natural progression of diabetic peripheral neuropathy over 12 months in a large mild-to-moderate neuropathy population.RESEARCH DESIGN AND METHODS—Patients from a multicentered trial of zenarestat, an aldose reductase inhibitor, had serial measures of neurologic function, including nerve conduction studies (NCSs), quantitative sensory testing (QST), and clinical neuropathy rating scores at baseline and at 12 months. Baseline population descriptors and changes in neurologic function in placebo-treated patients were analyzed.RESULTS—Sural sensory velocity (P = 0.0008 [95% CI −1.04 to −0.27]), median sensory amplitude (P = 0.0021 [−1.3 to −0.29]), median distal motor latency (P = 0.002 [0.09–0.28]), cool thermal QST (P = 0.0005 [0.27–0.94]), and Michigan Neuropathy Screening Instrument results (P = 0.0087 [0.04–0.30]) declined significantly from baseline in the placebo population. NCS changes from baseline were independent of baseline HbA1c stratification.CONCLUSIONS—The neurologic decline over 12 months is evident when measured by NCS and cool thermal QST. Other measures (vibration QST, neuropathy rating scores, monofilament examination) are insensitive to changes over 12 months in a mild-to-moderate affected population of this size.", "publicationTitle": "Diabetes Care", "publisher": "", "place": "", "date": "May 01 , 2004", "volume": "27", "issue": "5", "section": "", "partNumber": "", "partTitle": "", "pages": "1153 -1159", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "", "DOI": "10.2337/diacare.27.5.1153", "citationKey": "", "url": "http://care.diabetesjournals.org/content/27/5/1153.abstract", "accessDate": "2011-04-05T08:50:15Z", "PMID": "", "PMCID": "", "ISSN": "", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "Highwire 2.0", "callNumber": "", "rights": "", "extra": "", "tags": [], "collections": [], "relations": {}, "dateAdded": "2011-04-05T08:50:15Z", "dateModified": "2011-04-05T08:50:15Z" } }, { "key": "F5JEXV4R", "version": 1, "library": { "type": "group", "id": 36416, "name": "Myosin7a", "links": { "alternate": { "href": "https://www.zotero.org/groups/myosin7a", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/36416/items/F5JEXV4R", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/myosin7a/items/F5JEXV4R", "type": "text/html" } }, "meta": { "createdByUser": { "id": 485257, "username": "h.frenzel", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/h.frenzel", "type": "text/html" } } }, "creatorSummary": "Dyck et al.", "parsedDate": "1990-10", "numChildren": 0 }, "data": { "key": "F5JEXV4R", "version": 1, "itemType": "journalArticle", "title": "Comparison of algorithms of testing for use in automated evaluation of sensation", "creators": [ { "creatorType": "author", "firstName": "P J", "lastName": "Dyck" }, { "creatorType": "author", "firstName": "J L", "lastName": "Karnes" }, { "creatorType": "author", "firstName": "D A", "lastName": "Gillen" }, { "creatorType": "author", "firstName": "P C", "lastName": "O'Brien" }, { "creatorType": "author", "firstName": "I R", "lastName": "Zimmerman" }, { "creatorType": "author", "firstName": "D M", "lastName": "Johnson" } ], "abstractNote": "Estimates of vibratory detection threshold may be used to detect, characterize, and follow the course of sensory abnormality in neurologic disease. The approach is especially useful in epidemiologic and controlled clinical trials. We studied which algorithm of testing and finding threshold should be used in automatic systems by comparing among algorithms and stimulus conditions for the index finger of healthy subjects and for the great toe of patients with mild neuropathy. Appearance thresholds obtained by linear ramps increasing at a rate less than 4.15 microns/sec provided accurate and repeatable thresholds compared with thresholds obtained by forced-choice testing. These rates would be acceptable if only sensitive sites were studied, but they were too slow for use in automatic testing of insensitive parts. Appearance thresholds obtained by fast linear rates (4.15 or 16.6 microns/sec) overestimated threshold, especially for sensitive parts. Use of the mean of appearance and disappearance thresholds, with the stimulus increasing exponentially at rates of 0.5 or 1.0 just noticeable difference (JND) units per second, and interspersion of null stimuli, Békésy with null stimuli, provided accurate, repeatable, and fast estimates of threshold for sensitive parts. Despite the good performance of Békésy testing, we prefer forced choice for evaluation of the sensation of patients with neuropathy.", "publicationTitle": "Neurology", "publisher": "", "place": "", "date": "Oct 1990", "volume": "40", "issue": "10", "section": "", "partNumber": "", "partTitle": "", "pages": "1607-1613", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "Neurology", "DOI": "", "citationKey": "", "url": "http://www.ncbi.nlm.nih.gov/pubmed/2215954", "accessDate": "2011-04-04T12:30:30Z", "PMID": "", "PMCID": "", "ISSN": "0028-3878", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "NCBI PubMed", "callNumber": "", "rights": "", "extra": "PMID: 2215954", "tags": [ { "tag": "Algorithms", "type": 1 }, { "tag": "Diagnosis, Computer-Assisted", "type": 1 }, { "tag": "Fingers", "type": 1 }, { "tag": "Humans", "type": 1 }, { "tag": "Nervous System Diseases", "type": 1 }, { "tag": "Reproducibility of Results", "type": 1 }, { "tag": "Sensation", "type": 1 }, { "tag": "Sensory Thresholds", "type": 1 }, { "tag": "Toes", "type": 1 }, { "tag": "Vibration", "type": 1 } ], "collections": [], "relations": {}, "dateAdded": "2011-04-04T12:30:30Z", "dateModified": "2011-04-04T12:30:30Z" } }, { "key": "ESAVGRQ5", "version": 1, "library": { "type": "group", "id": 36416, "name": "Myosin7a", "links": { "alternate": { "href": "https://www.zotero.org/groups/myosin7a", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/36416/items/ESAVGRQ5", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/myosin7a/items/ESAVGRQ5", "type": "text/html" } }, "meta": { "createdByUser": { "id": 485257, "username": "h.frenzel", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/h.frenzel", "type": "text/html" } } }, "creatorSummary": "Yan and Liu", "parsedDate": "2010", "numChildren": 3 }, "data": { "key": "ESAVGRQ5", "version": 1, "itemType": "journalArticle", "title": "Genetics and pathological mechanisms of Usher syndrome", "creators": [ { "creatorType": "author", "firstName": "D.", "lastName": "Yan" }, { "creatorType": "author", "firstName": "X. Z.", "lastName": "Liu" } ], "abstractNote": "", "publicationTitle": "J Hum Genet", "publisher": "", "place": "", "date": "2010", "volume": "55", "issue": "", "section": "", "partNumber": "", "partTitle": "", "pages": "327-35", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "", "DOI": "", "citationKey": "", "url": "http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=20379205", "accessDate": "", "PMID": "", "PMCID": "", "ISSN": "1435-232X (Electronic) 1434-5161 (Linking)", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "", "callNumber": "", "rights": "", "extra": "6", "tags": [ { "tag": "Animals" }, { "tag": "Ear, Inner/growth & development/metabolism" }, { "tag": "Genes, Recessive" }, { "tag": "Hair/growth & development/metabolism" }, { "tag": "Humans" }, { "tag": "Mice" }, { "tag": "Myosins/genetics" }, { "tag": "Proteins/metabolism" }, { "tag": "Usher Syndromes/diagnosis/*genetics/*metabolism" } ], "collections": [], "relations": {}, "dateAdded": "2011-02-16T09:07:32Z", "dateModified": "2011-02-16T09:07:32Z" } }, { "key": "NRQV65AW", "version": 1, "library": { "type": "group", "id": 36416, "name": "Myosin7a", "links": { "alternate": { "href": "https://www.zotero.org/groups/myosin7a", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/36416/items/NRQV65AW", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/myosin7a/items/NRQV65AW", "type": "text/html" }, "up": { "href": "https://api.zotero.org/groups/36416/items/ESAVGRQ5", "type": "application/json" } }, "meta": { "createdByUser": { "id": 485257, "username": "h.frenzel", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/h.frenzel", "type": "text/html" } } } }, "data": { "key": "NRQV65AW", "version": 1, "parentItem": "ESAVGRQ5", "itemType": "attachment", "linkMode": "linked_url", "title": "query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=20379205", "accessDate": "2011-01-20T14:09:31Z", "url": "http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=20379205", "note": "", "contentType": "", "charset": "", "tags": [], "relations": {}, "dateAdded": "2011-02-16T09:07:32Z", "dateModified": "2011-02-16T09:07:32Z" } }, { "key": "G75WVFXT", "version": 7532, "library": { "type": "group", "id": 36416, "name": "Myosin7a", "links": { "alternate": { "href": "https://www.zotero.org/groups/myosin7a", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/36416/items/G75WVFXT", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/myosin7a/items/G75WVFXT", "type": "text/html" }, "up": { "href": "https://api.zotero.org/groups/36416/items/SFTWCRDB", "type": "application/json" } }, "meta": { "createdByUser": { "id": 485257, "username": "h.frenzel", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/h.frenzel", "type": "text/html" } } }, "lastModifiedByUser": { "id": 283300, "username": "glewin", "name": "Gary Lewin", "links": { "alternate": { "href": "https://www.zotero.org/glewin", "type": "text/html" } } } }, "data": { "key": "G75WVFXT", "version": 7532, "parentItem": "SFTWCRDB", "itemType": "attachment", "linkMode": "imported_url", "title": "Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I - Jaijo - 2006 - Human Mutation - Wiley Online Library", "accessDate": "2011-02-07T13:19:58Z", "url": "http://onlinelibrary.wiley.com/doi/10.1002/humu.9404/abstract;jsessionid=A8511DFA45554D7883135D8B78E1A318.d02t02", "note": "", "contentType": "text/html", "charset": "utf-8", "filename": "abstract.html", "md5": "b8d59de14b4f8e637149c8434edaea70", "mtime": 1297084788000, "tags": [], "relations": {}, "dateAdded": "2011-02-07T13:19:59Z", "dateModified": "2011-02-07T13:20:33Z" } } ]