Absorptive hypercalciuria locus on human chromosome 1

Details Absorptive hypercalciuria locus on human chromosome 1 Absorptive hypercalciuria locus on human chromosome 1

2006-05-30

2006-05-30

Weber, Jon (Department: 1653)

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

C435S007800, C435S007200, C435S005000, C435S023000, C435S069100, C435S230000, C435S252300, C435S320100, C435S810000, C530S300000, C530S350000, C530S395000, C530S312000, C424S010400, C424S142100, C424S001210, C436S501000, C436S087000, C536S023100, C514S008100, C514S654000

Reexamination Certificate

active

07052833

ABSTRACT:
Disclosed is a region on human chromosome 1 that provides a genetic basis for absorptive hypercalciuria. The genes, proteins, and other biological materials provided are envisioned for use in diagnostic and therapeutic methods related to absorptive hypercalciuria and osteoporosis with hypercalciuria.

REFERENCES:
patent: 4683202 (1987-07-01), Mullis
Rhodes S. Direct Submission. Submitted Jan. 6, 1999.
Grafham D. Direct Submission. Submitted Oct. 27, 1997.
Abbondanzo et al., “Prognostic significance of immunocytochemically determined ps2 in axillary node-negative breast carcinoma,”Breast Cancer Res. Treat., 16:182 (#151), 1990.
Abrams, “Clinical studies of mineral metabolism in children using stable isotopes,”J. Ped. Gastroenter. Nutr., 19:151-163, 1994.
Allred et al., “Comprehensive evaluation of prognostic factors by immunocytochemistry on extremely small samples (50 MG) of “pulverized” breast carcinomals,”Breast Cancer Res. Treat., 16:182 (#149), 1990.
Bataille et al., “Diet, vitamin D and vertebral mineral density in hypercalciuric calcium stone-formers,”Kidney Intern, 39:1193-1205, 1991.
Breslau et al., “Use of ketoconazole to probe the pathogenic importance of 1,25-dihydoxyvitamin D in absorptive hypercalciuria,”J. Clin. Endocrinol Metab., 75:1446-1452, 1992.
Brown et al., “Prognostic significance and clinical-pathological correlations of cell-cycle kinetics measured by KI-7 immunocytochemistry in axillary node-negative carcinoma of the breast,”Breast Cancer Res. Treat., 16:192 (#191), 1990.
Buck et al., “Cytosolic adenylyl cyclase defines a unique signalling molecule in mammals,”Proc. Natl. Acad. Sci. USA, 96: 79-84.
Collins et al., “A metric map of humans: 23,500 loci in 850 bands,”Proc. Natl. Acad. Sci. USA, 93:14771-14775, 1996.
DeMay et al., “Sequences in the human parathyroid hormone gene that bind the 1,25-dihydroxyvitamin D3receptor and mediate transcriptional repression in response to 1,25-dihydroxyvitamin D3,”Proc. Natl. Acad. Sci., 89: 8097-8101, 1992.
Fujita and Swaroop, “Alu-Vector PCR with Biotinylated Primers to Isolate YAC Ends Ready for Sequencing,”BioTechniques18: 796-799, 1995.
Heller et al., “Sustained reduction in urinary calcium during long-term treatment with slow release neutral potassium phosphate in absorptive hypercalciuria,”J. Urol., 159:1451-1456, 1988.
Hess et al., “Relative Hypoparathyroidism and Calcitriol Up-Regulation in Hypercalciuric Calcium Renal Stone Formers—Impact of Nutrion,”Am. J. Nephrol.13:18-26, 1993.
Horrigan and Westbrook, “Construction and Use of YAC Contigs in Disease Regions,”Gene Isolation and Mapping Protocols., Human Press, ed. J. Boultwood, 123-125, 1997.
Krieger et al., “Increased sensitivity to 1,25(OH)2D3in bone from gentic hypercalciuric rats,”J. Physiol.271:C130-C135, 1996.
Krizman, “Gene Isolation by Exon Trapping,”Gene Isolation and Mapping Protocols, Human Press, ed. J. Boultwood, 167-182, 1997.
Kruglyak et al.,“Parametric and non-parametric linkage analysis: a unified multilocus approach,”Am. J. Hum. Genet., 58:1347-1363, 1996.
Lathrop et al., “Multilocus Linkage Analysis in Humans: Detection Linkage and Estimation of Recombination,”Am. J. Hum. Genet 37:482-498, 1985.
Ledbetter et al., Rapid Isolation of DNA Probes within Specific Chromosome Regions by Interspersed Repetitive Sequence Polymerase Chain ReactionGenomics6: 475-481, 1990.
Levy et al., “Ambulatory evaluation of nephrolithiasis: an update of a 1980 protocol,”Am. J. Med., 98:50-59, 1995.
Li et al., “Increased intestinal vitamin D receptor in genetic hypercalciuric rats: a cause of intestinal calcium hyperabsorption,”J. Clin. Invest., 91:661-667, 1993.
Lloyd et al., “A common molecular basis for three inherited kidney stone diseases,”Nature, 379:445-449, 1996.
Pacifici et al., “Increased Monocyte Interleukin-1 Activity and Decreased Vertebral Bone Density in Patients with Fasting Idiopathic Hypercalciuria,”J. Clin. Endo. Metab., 71:138-145, 1990.
Pak and Galosy, “Fasting urinary calcium and adenosine 3′, 5,-monophosphate: a discriminant analysis for the identification of renal and absorptive hypercalciurias,”J. Clin. Endocrinol. Metab., 48: 260-265, 1979.
Pak et al., “A simple test for the diagnosis of absorptive, resorptive and renal hypercalciurias,”N. Engl. J. Med., 292:497-500, 1975.
Pak et al., “Ambulatory evaluation of nephrolithiasis: classification clinical presentation, and diagnostic criteria,”Am. J. Med., 69:19-30, 1980.
Pak et al., “Familial absorptive hypercalciuria in a large kindred,”J. Urology, 126:717-719, 1981.
Pak et al., “The hypercalciurias: causes, parathyroid functions and diagnostics criteria,”J. Clin. Invest., 54:387-400, 1974.
Pietchmann et al., “Reduced vertebral bone density in hypercalciuric nephrolithiasis,”J. Bone Min. Res., 7:1383-1388, 1992.
Preminger et al., “Differentiation of unclassified hypercalciuria utilizing a sodium cellulose phosphate trial,”In Urolithiasis, Walker, Sutton, Cameron, Pak, Robertson (eds.), Plenum Press New York and London, 325-328, 1989.
Reed et al., “Linkage analysis in absorptive hypercalciuria: lack of linkage to the vitamin D receptor or 1,25(OH)2D3hydroxylase loci,”In Urolithiasis, Pak, Resnick, Preminger (eds), Millet Press, Dallas, TX, 540-542, 1996.
Reed et al., “Mapping a Gene Defect in Absorptive Hypercalciuria to Chromosome 1q23.3-q24*,”Journal of Clinical Endocrinology&Metabolism84:3907-3913, 1999.
Ruml et al., “Medical Therapy; Calcium Oxalate Urolithiasis,”Urol. Clinics of N. Am.24:117-132, 1997.
Tenenhouse, “Cellular and molecular mechanisms of renal phosphate transport,”J. Bone Min. Res., 12:159-163, 1997.
Weisinger et al.,“Possible role of cytokines on the bone mineral loss in idiopathic hypercalciuria,”Kidney Int.49:224-250, 1996.
Zerwekh et al., “Evidence for normal vitamin D receptor messager ribonucleic acid and genotype in absorptive hypercalciuria,”J. Clim. Endocrinol. Metab., 80:2960-2965, 1995.
Zerwekh et al., “Vitamin D receptor quantitation in human mononuclear cells in health and disease,”Mol. Cell Endocrinol., 96:1-6, 1993.
Imamura et al., “4q33-qter deletion and adsorptive hypercalciuria: report of two unrelated girls,”American J. of Med. Gene., 78:52-54, 1998.
Lemann, Jr. and Gray, “Idiopathic hypercalciuria,”J. of Urology, 141:715-718, 1989.
Pearce et al., “A familial syndrome of hypocalcemia with hypercalciuria due to mutation in the calcium-sensing receptor,”The New England J of Med., 335:1115-1122, 1996.
Thakker, “Renal chloride channel, CLCN%, mutations and hypercalciuric nephrolithiasis disorders,”Nova Acta Leopolidina NF, 302:23-33, 1997.
Reed et al., “Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density,”Journal of Clinical Endocrinology and Metabolism, 87(4):1476-1485, 2002.
Pearce, “Human DNA sequence from PAC 313L4 on chromosome 1q24,” Accession No. Z99943, OCt. 8, 1997.
GenBank Accession No. AA707634, Jan. 12, 1999, NCI-CGAP.

Affiliated with

Also associated with

Rating

Absorptive hypercalciuria locus on human chromosome 1 does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Absorptive hypercalciuria locus on human chromosome 1, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Absorptive hypercalciuria locus on human chromosome 1 will most certainly appreciate the feedback.

Rate now

Comments { 0 }

Profile ID: LFUS-PAI-O-3524445