{"search_session":{},"preferences":{"l":"en","queryLanguage":"en"},"patentId":"US_8394589_B2","frontPageModel":{"patentViewModel":{"ref":{"entityRefType":"PATENT","entityRefId":"114-146-344-974-120"},"entityMetadata":{"linkedIds":{"empty":true},"tags":[],"collections":[{"id":8876,"type":"PATENT","title":"Northwestern University Patent Portfolio","description":"","access":"OPEN_ACCESS","displayAvatar":true,"attested":false,"itemCount":17491,"tags":[],"user":{"id":91044780,"username":"Cambialens","firstName":"","lastName":"","created":"2015-05-04T00:55:26.000Z","displayName":"Cambialens","preferences":"{\"usage\":\"public\",\"beta\":false}","accountType":"PERSONAL","isOauthOnly":false},"notes":[{"id":8210,"type":"COLLECTION","user":{"id":91044780,"username":"Cambialens","firstName":"","lastName":"","created":"2015-05-04T00:55:26.000Z","displayName":"Cambialens","preferences":"{\"usage\":\"public\",\"beta\":false}","accountType":"PERSONAL","isOauthOnly":false},"text":"
Search applicants and Owners separately = \" Northwestern University\", 'Northw* Univ*\" , \"Univ Northwestern\", \"
Search applicants and Owners separately = \" Northwestern University\", 'Northw* Univ*\" , \"Univ Northwestern\", \"
(a) assaying a biological sample from said human subject to identify a thymine present at position 946 of exon 6 of the TRPV4 gene;\n
(b) assaying said biological sample from said human subject to identify an adenine present at position 806 of exon 5 of the TRPV4 gene; and\n
(c) diagnosing said human subject as having or being a carrier of:\n"],"number":1,"annotation":false,"title":false,"claim":true},{"lines":["The method of claim 1, wherein said human subject is asymptomatic."],"number":2,"annotation":false,"title":false,"claim":true},{"lines":["The method of claim 1, wherein said human subject displays symptoms indicative of SPSMA and/or CMT2C."],"number":3,"annotation":false,"title":false,"claim":true},{"lines":["The method of claim 1, wherein assaying said sample utilizes a nucleic acid detection assay to determine the identity of the nucleotide at position 946 of exon 6 of the TRPV4 gene and the identity of the nucleotide at position 806 of exon 5 of the TRPV4 gene."],"number":4,"annotation":false,"title":false,"claim":true},{"lines":["A method of diagnosing a human subject with scapuloperoneal spinal muscular atrophy (SPSMA) and/or Charcot-Marie-Tooth disease type 2C (CMT2C) or identifying said subject as a carrier thereof, comprising:\n(i) SPSMA based on the presence of said thymine present at position 946 of exon 6 of the TRPV4 gene, and/or\n(ii) CMT2C based on the presence of said adenine present at position 806 of exon 5 of the TRPV4 gene.\n
(a) assaying a biological sample from said human subject to identify a histidine present at position 269 of the TRPV4 protein;\n
(b) assaying a biological sample from said human subject to identify a cysteine present at position 316 of the TRPV4 protein; and\n
(c) diagnosing said subject as having or being a carrier of:\n"],"number":5,"annotation":false,"title":false,"claim":true},{"lines":["The method of claim 5, wherein said human subject is asymptomatic."],"number":6,"annotation":false,"title":false,"claim":true},{"lines":["The method of claim 5, wherein said human subject displays symptoms indicative of CMT2C and/or SPSMA."],"number":7,"annotation":false,"title":false,"claim":true},{"lines":["The method of claim 5, wherein assaying said sample utilizes a protein detection assay to detect TRPV4 proteins with said histidine amino acid at position 269 and/or said cysteine present at position 316."],"number":8,"annotation":false,"title":false,"claim":true}]}},"filters":{"npl":[],"notNpl":[],"applicant":[],"notApplicant":[],"inventor":[],"notInventor":[],"owner":[],"notOwner":[],"tags":[],"dates":[],"types":[],"notTypes":[],"j":[],"notJ":[],"fj":[],"notFj":[],"classIpcr":[],"notClassIpcr":[],"classNat":[],"notClassNat":[],"classCpc":[],"notClassCpc":[],"so":[],"notSo":[],"sat":[]},"sequenceFilters":{"s":"SEQIDNO","d":"ASCENDING","p":0,"n":10,"sp":[],"si":[],"len":[],"t":[],"loc":[]}}(i) CMT2C, based on the presence of said histidine present at position 269 of the TRPV4 protein, and/or\n(ii) SPSMA, based on the presence of said cysteine present at position 316 of the TRPV4 protein.\n