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1. (WO2005056838) ASSOCIATION OF TSPYL POLYMORPHISMS WITH SIDDT SYNDROME
Latest bibliographic data on file with the International Bureau   

Pub. No.: WO/2005/056838 International Application No.: PCT/US2004/041540
Publication Date: 23.06.2005 International Filing Date: 08.12.2004
IPC:
C12Q 1/68 (2006.01)
C CHEMISTRY; METALLURGY
12
BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
Q
MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1
Measuring or testing processes involving enzymes or micro-organisms; Compositions therefor; Processes of preparing such compositions
68
involving nucleic acids
Applicants:
PUFFENBERGER, Erick, G. [US/US]; US (UsOnly)
STEPHAN, Deitrich, A. [US/US]; US (UsOnly)
THE CLINIC FOR SPECIAL CHILDREN [US/US]; 535 Bunker Hill Road Strasburg, PA 17579, US (AllExceptUS)
Inventors:
PUFFENBERGER, Erick, G.; US
STEPHAN, Deitrich, A.; US
Agent:
TREANNIE, Lisa, M. ; Ropes & Gray LLP One International Place Boston, MA 02110-2624, US
Priority Data:
60/527,68208.12.2003US
Title (EN) ASSOCIATION OF TSPYL POLYMORPHISMS WITH SIDDT SYNDROME
(FR) ASSOCIATION DE POLYMORPHISMES TSPYL AVEC LE SYNDROME SIDDT
Abstract:
(EN) The identification of a novel mutation in the testis specific Y-like gene and association of the mutation with SIDDT syndrome are disclosed. Methods for diagnosing SIDDT syndrome are disclosed. Methods for identifying compounds for use in the diagnosis and treatment of disorders associated with mutation in the TSPYL gene are also disclosed. The invention therefore provides nucleic acid sequences, genes, polypeptides, antibodies, vectors containing the gene, host cells transformed with vectors containing the gene, animal models for the disease, methods for expressing the polypeptide, genetic screening methods and kits, diagnostic methods and kits.
(FR) L'invention concerne l'identification d'une nouvelle mutation dans le gène de type Y spécifique des testicules, et l'association de la mutation avec le syndrome SIDDT. L'invention concerne également des procédés de diagnostic du syndrome SIDDT. En outre, l'invention concerne des procédés d'identification de composés destinés à être utilisés dans le diagnostic et le traitement de troubles associés avec la mutation dans le gène TSPYL. L'invention permet ainsi d'obtenir des séquences d'acides nucléiques, des gènes, des polypeptides, des anticorps, des vecteurs contenant le gène, des cellules hôtes transformées avec des vecteurs contenant le gène, des modèles animaux pour la maladie, des procédés d'expression du polypeptide, des procédés et des kits de triage génétique, ainsi que des procédés et des kits de diagnostic.
Designated States: AE, AG, AL, AM, AT, AU, AZ, BA, BB, BG, BR, BW, BY, BZ, CA, CH, CN, CO, CR, CU, CZ, DE, DK, DM, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, HR, HU, ID, IL, IN, IS, JP, KE, KG, KP, KR, KZ, LC, LK, LR, LS, LT, LU, LV, MA, MD, MG, MK, MN, MW, MX, MZ, NA, NI, NO, NZ, OM, PG, PH, PL, PT, RO, RU, SC, SD, SE, SG, SK, SL, SY, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, YU, ZA, ZM, ZW
African Regional Intellectual Property Organization (ARIPO) (BW, GH, GM, KE, LS, MW, MZ, NA, SD, SL, SZ, TZ, UG, ZM, ZW)
Eurasian Patent Office (AM, AZ, BY, KG, KZ, MD, RU, TJ, TM)
European Patent Office (EPO) (AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HU, IE, IS, IT, LT, LU, MC, NL, PL, PT, RO, SE, SI, SK, TR)
African Intellectual Property Organization (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, ML, MR, NE, SN, TD, TG)
Publication Language: English (EN)
Filing Language: English (EN)