Methods and composition for diagnosing and treating...

Chemistry: analytical and immunological testing – Process or composition for determination of physical state... – Corrosion resistance or power

Reexamination Certificate

Rate now

  [ 0.00 ] – not rated yet Voters 0   Comments 0

Details

Reexamination Certificate

active

07364904

ABSTRACT:
Methods and compositions are provided for diagnosing and treatingPseudoxanthoma elasticum(PXE) patients and PXE carriers. Methods and compositions are based on the discovery that PXE mutations are located in the MRP6 (ABCC6) gene.

REFERENCES:
patent: WO 98/37764 (1998-09-01), None
Le Saux et al. (Genomics (1999) vol. 62, pp. 1-10).
Phendner et al. J. Med. Genet. Online, Jul. 6, 2007, pp. 1-16 [Epub prior to print].
Hu et al. Investigative Ophthalmology and Visual Science, vol. 44, No. 5, pp. 1824-1829, May 2003.
Cotton, (1993), “Current methods of mutation detection,”Mutation Research, 285:125-144.
Le Saux et al., (1999), “Pseudoxanthoma elasticumMaps to an 820-kb Region of the p13.1 Region of Chromosome 16,”Genomics, 62:1-10.
Le Saux et al., (2000), “Mutations in a gene encoding an ABC transporter causePseudoxanthoma elasticum,” Nature Genetics, 25:2:223-227, abstract only.
Ringpfeil et al., (2000), “Pseudoxanthoma elasticum: Mutations in theMRP6gene encoding a transmembrane ATP-binding cassette (ABC) transporter,”Proc. Natl. Acad. Sci., 97:11:6001-6006.
International Search Report for International Patent Application Serial No. PCT/US01/05741, dated Jul. 18, 2002, 3 pages.
Bacchelli et al., (1999), “Identification of Heterozygote Carriers in Families with a Recessive Form ofPseudoxanthoma elasticum(PXE),”Modern Pathology, 12(12):1112-1123.
Bergen et al. (2000), “Mutations in ABCC6 causePseudoxanthoma elasticum,” Nature Genetics, 25(2):228-231.
Cai et al., (2000), “A 500-kb region on chromosome 16p13.1 contains thePseudoxanthoma elasticumlocus: high-resolution mapping and genomic structure,”Journal of Molecular Medicine, 78(1):36-46.
Germain et al., (2000), “Homozygosity for the R1268Q Mutation in MRP6, thePseudoxanthoma elasticumGene, Is Not Disease-Causing,”Biochemical and Biophysical Research Communications, 274(2):297-301.
Germain et al., (2000), “Identification of Two Polymorphisms (c189G>C; c190T>C) in Exon 2 of the Human MRP6 Gene (ABCC6) by Screening ofPseudoxanthoma elasticumPatients: Possible Sequence Correction?”Human Mutation, Mutation and Polymorphism Report #174, Online (3 pages).
Hopper et al., (2001), “Analysis of the structure and expression pattern of MRP7 (ABCC10), a new member of the MRP subfamily,”Cancer Letters, 162(2):181-191.
Kool et al., (1999), “Expression of Human MRP6, a Homologue of the Multidrug Resistance Protein Gene MRP1, in Tissues and Cancer Cells,”Cancer Research, 59:175-182.
Le Saux et al., (2000), “Mutations in gene encoding an ABC Transporter causePseudoxanthoma elasticum,” Nature Genetics, 25: 223-227.
Le Saux et al., (2001), “A Spectrum of ABCC6 Mutations Is Responsible forPseudoxanthoma elasticum, ” American Journal of Human Genetics, 69: 749-764.
Mao et al., (1999), “ATPase activity of purified and reconstituted multidrug resistance protein MRP1 from drug-selected H69AR cells,”Biochimica et Biophysica Acta, 1461:69-82.
Perdu et al., (2000), “Identification of Novel Polymorphisms in the pM5 and MRP1 (ABCC1) Genes at Locus 16p13.1 and Exclusion of Both Genes as Responsible forPseudoxanthoma elasticum, ” Human Mutation, Mutation in Brief #388, Online (5 pages).
Quaglino et al., (2000), “Abnormal phenotype of in vitro dermal fibroblasts from patients withPseudoxanthoma elasticum(PXE),”Biochimica et Biophysica Acta, 1501:51-62.
Renie et al., (1984), “Pseudoxanthoma elasticum: High Calcium Intake in Early Life Correlates With Severity,”American Journal of Medical Genetics, 19:235-244.
Ringpfeil et al., (2000), “Mutations in the MRP6 Gene CausePseudoxanthoma elasticum,” The Journal of Investigative Dermatology, 115(2):332, Abstract HB1.
Sapadin et al., (1998), “PeriumbilicalPseudoxanthoma elasticumassociated with chronic renal failure and angioid streaks—apparent regression with hemodialysis,”Journal of the American Academy of Dermatology, 39(2):338-344.
Struk et al., (2000), “Mutations of the gene encoding the transmembrane transporter protein ABC-C6 causePseudoxanthoma elasticum,” Journal of Molecular Medicine, 78(5):282-286.
Tybulewicz et al., (1991), “Neonatal Lethality and Lymphopenia in Mice with a Homozygous Disruption of the c-ablProto-Oncogene,”Cell, 65:1153-1163.

LandOfFree

Say what you really think

Search LandOfFree.com for the USA inventors and patents. Rate them and share your experience with other people.

Rating

Methods and composition for diagnosing and treating... does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Methods and composition for diagnosing and treating..., we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Methods and composition for diagnosing and treating... will most certainly appreciate the feedback.

Rate now

     

Profile ID: LFUS-PAI-O-2783627

  Search
All data on this website is collected from public sources. Our data reflects the most accurate information available at the time of publication.