LRP5 ELISA Kit for Human(Homo sapiens) | EIAab.comLRP5 ELISA Kit for Human(Homo sapiens)

Search Protein-oriented Product center.

For antibodies, ELISA/CLIA, proteins... Product center

Tips

Index > Protein center > LRP5(Gene name) > Human

LRP5 (Gene name),

Low-density lipoprotein receptor-related protein 5 (Protein name ), LRP5_HUMAN from NCBI database.

top

General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

Feedback

Gene name:

LRP5(LRP7;LRP7);

Protein name:

Low-density lipoprotein receptor-related protein 5(LRP-5);

Alternative:

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Homodimer; disulfide-linked. Forms phosphorylated oligomer aggregates on Wnt-signaling (By similarity). Component of a Wnt-signaling complex that contains a WNT protein, a FZD protein and LRP5 or LRP6. Interacts with FZD8; the interaction is formed on WNT-binding and signaling. Interacts (via the phosphorylated PPPSP motif domains) with AXIN1; the interaction prevents inhibition of beta-catenin phosphorylation and signaling and is enhanced in the presence of GSK3B and WNT1 or WNT3A. Interacts (via beta-propeller regions 3 and 4) with DKK1; the interaction, enhanced by MESD and/or KREMEN, inhibits beta-catenin signaling by preventing GSK3-mediated phosphorylation of the PPPSP motifs and subsequent, AXIN1 binding. Interacts with MESD; the interaction prevents the formation of LRP5 aggregates, targets LRP5 to the plasma membrane and, when complexed with KREMEN2, increases DKK1 binding. Interacts with CSNK1E. Interacts with SOST; the interaction antagonizes canonical Wnt signaling. Interacts with APCDD1.

Function:

Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalsomes. Cell-surface coreceptor of Wnt/beta-catenin signaling, which plays a pivotal role in bone formation. The Wnt-induced Fzd/LRP6 coreceptor complex recruits DVL1 polymers to the plasma membrane which, in turn, recruits the AXIN1/GSK3B-complex to the cell surface promoting the formation of signalsomes and inhibiting AXIN1/GSK3-mediated phosphorylation and destruction of beta-catenin. Appears be required for postnatal control of vascular regression in the eye. Required for posterior patterning of the epiblast during gastrulation.

Subcellular Location:

Membrane Single-pass type I membrane protein Endoplasmic reticulum Chaperoned to the plasma membrane by MESD.

Protein Attributes:

Sequence length:

1615

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

550:

600:

650:

700:

750:

800:

850:

900:

950:

1000:

1050:

1100:

1150:

1200:

1250:

1300:

1350:

1400:

1450:

1500:

1550:

1600:

1615:

FHLFPPPPSP | CTDSS

3D Structure:

N/A

Predicted Eptitope:

Please Sign in.

Vaild Sequence:

Please Sign in.

Related Databases

KEGG:

hsa:4041

UniGene:

Hs.6347

MIM:

144750

SMR:

O75197

Pfam:

PF00057

STRING:

9606.ENSP00000294304

String:

O75197

Uniprot:

O75197

FOR

ELISA Kit for Human LRP-5

Cat.:

E3681h

Price:

Please sign in first.

Manual:

Looking for manual.

MSDS:

Please sign in first.

Packing:

96T

Range:

Please sign in first.

ELISA Kit for Human LRP-5

Cat.:

E3681m

Price:

Please sign in first.

Manual:

Looking for manual.

MSDS:

Please sign in first.

Packing:

96T

Range:

Please sign in first.

CLIA Kit for Human LRP-5

Cat.:

U3681m

Price:

Please sign in first.

MSDS:

Please sign in first.

Packing:

96T

CLIA Kit for Human LRP-5

Cat.:

U3681h

Price:

Please sign in first.

MSDS:

Please sign in first.

Packing:

96T

Polyclonal Antibody for Human LRP-5

Cat.:

P3681Rb-m

Price:

Please sign in first.

Packing:

40ug/0.2ml

Polyclonal Antibody for Human LRP-5

Cat.:

P3681Rb-h

Price:

Please sign in first.

Packing:

40ug/0.2ml

Monoclonal Antibody for Human LRP-5

Protein for Human LRP-5

Cat.:

R3681h

Price:

Please sign in first.

Packing:

1mg

Purity:

>90%

Protein for Human LRP-5

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Linearity

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

References

1.

"Molecular cloning and characterization of LR3, a novel LDL receptor family protein with mitogenic activity."
Dong Y. , Lathrop W. , Weaver D. , Qiu Q. , Cini J. , Bertolini D. , Chen D.
Biochem. Biophys. Res. Commun.251:784-790(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];TISSUE SPECIFICITY
tissue: Osteoblast.
2.

"Cloning of a novel member of the low-density lipoprotein receptor family."
Hey P.J. , Twells R.C.J. , Phillips M.S. , Nakagawa Y. , Brown S.D. , Kawaguchi Y. , Cox R. , Xie G. , Dugan V. , Hammond H. , Metzker M.L. , Todd J.A. , Hess J.F.
Gene216:103-111(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];VARIANT VAL-1525
tissue: Osteoblast.
3.

"The sequence and gene characterization of a 400-kb candidate region for IDDM4 on chromosome 11q13."
Twells R.C.J. , Metzker M.L. , Brown S.D. , Cox R. , Garey C. , Hammond H. , Hey P.J. , Levy E. , Nakagawa Y. , Philips M.S. , Todd J.A. , Hess J.F.
Genomics72:231-242(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
4.

"Low-density lipoprotein receptor-related protein 5 (LRP5) is essential for normal cholesterol metabolism and glucose-induced insulin secretion."
Fujino T. , Asaba H. , Kang M.J. , Ikeda Y. , Sone H. , Takada S. , Kim D.H. , Ioka R.X. , Ono M. , Tomoyori H. , Okubo M. , Murase T. , Kamataki A. , Yamamoto J. , Magoori K. , Takahashi S. , Miyamoto Y. , Oishi H. , more...
Proc. Natl. Acad. Sci. U.S.A.100:229-234(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];VARIANT VAL-1330
5.

"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D. , Noguchi H. , Totoki Y. , Toyoda A. , Kuroki Y. , Dewar K. , Lloyd C. , Itoh T. , Takeda T. , Kim D.-W. , She X. , Barlow K.F. , Bloom T. , Bruford E. , Chang J.L. , Cuomo C.A. , Eichler E. , FitzGerald M.G. , more...
Nature440:497-500(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
6.

Mural R.J. , Istrail S. , Sutton G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , more...
Submitted (2005-07) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
7.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
8.

"Head inducer Dickkopf-1 is a ligand for Wnt coreceptor LRP6."
Semenov M.V. , Tamai K. , Brott B.K. , Kuhl M. , Sokol S. , He X.
Curr. Biol.11:951-961(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH FZD8 IN WNT-FZD-LRP5-LRP6 COMPLEX;INTERACTION WITH DKK1;FUNCTION
9.

"Low-density lipoprotein receptor-related protein-5 binds to Axin and regulates the canonical Wnt signaling pathway."
Mao J. , Wang J. , Liu B. , Pan W. , Farr G.H. III , Flynn C. , Yuan H. , Takada S. , Kimelman D. , Li L. , Wu D.
Mol. Cell7:801-809(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;INTERACTION WITH AXIN1
10.

"A mechanism for Wnt coreceptor activation."
Tamai K. , Zeng X. , Liu C. , Zhang X. , Harada Y. , Chang Z. , He X.
Mol. Cell13:149-156(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;PHOSPHORYLATION;INTERACTION WITH AXIN1
11.

"The LRP5 high-bone-mass G171V mutation disrupts LRP5 interaction with Mesd."
Zhang Y. , Wang Y. , Li X. , Zhang J. , Mao J. , Li Z. , Zheng J. , Li L. , Harris S. , Wu D.
Mol. Cell. Biol.24:4677-4684(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH MESD;CHARACTERIZATION OF VARIANT HBM VAL-171
12.

"Sclerostin binds to LRP5/6 and antagonizes canonical Wnt signaling."
Li X. , Zhang Y. , Kang H. , Liu W. , Liu P. , Zhang J. , Harris S.E. , Wu D.
J. Biol. Chem.280:19883-19887(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH DKK1 AND SOST;FUNCTION
13.

"SOST is a ligand for LRP5/LRP6 and a Wnt signaling inhibitor."
Semenov M. , Tamai K. , He X.
J. Biol. Chem.280:26770-26775(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH WNT1 IN THE WNT-FZD-LRP5-LRP6 COMPLEX;INTERACTION WITH SOST
14.

"Negative regulation of LRP6 function by casein kinase I epsilon phosphorylation."
Swiatek W. , Kang H. , Garcia B.A. , Shabanowitz J. , Coombs G.S. , Hunt D.F. , Virshup D.M.
J. Biol. Chem.281:12233-12241(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH CSNK1E
15.

"Requirement for natively unstructured regions of mesoderm development candidate 2 in promoting low-density lipoprotein receptor-related protein 6 maturation."
Koduri V. , Blacklow S.C.
Biochemistry46:6570-6577(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH MESD
16.

"A cell-based Dkk1 binding assay reveals roles for extracellular domains of LRP5 in Dkk1 interaction and highlights differences between wild-type and the high bone mass mutant LRP5(G171V)."
Murrills R.J. , Matteo J.J. , Bhat B.M. , Coleburn V.E. , Allen K.M. , Chen W. , Damagnez V. , Bhat R.A. , Bex F.J. , Bodine P.V.
J. Cell. Biochem.108:1066-1075(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH DKK1 AND MESD;CHARACTERIZATION OF VARIANT VAL-171
17.

"APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex."
Shimomura Y. , Agalliu D. , Vonica A. , Luria V. , Wajid M. , Baumer A. , Belli S. , Petukhova L. , Schinzel A. , Brivanlou A.H. , Barres B.A. , Christiano A.M.
Nature464:1043-1047(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH APCDD1
18.

"LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development."
Gong Y. , Slee R.B. , Fukai N. , Rawadi G. , Roman-Roman S. , Reginato A.M. , Wang H. , Cundy T. , Glorieux F.H. , Lev D. , Zacharin M. , Oexle K. , Marcelino J. , Suwairi W. , Heeger S. , Sabatakos G. , Apte S. , Adkins W.N. , more...
Cell107:513-523(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OPPG GLN-494 AND TRP-570;VARIANT MET-667
19.

"A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait."
Little R.D. , Carulli J.P. , Del Mastro R.G. , Dupuis J. , Osborne M. , Folz C. , Manning S.P. , Swain P.M. , Zhao S.-C. , Eustace B. , Lappe M.M. , Spitzer L. , Zweier S. , Braunschweiger K. , Benchekroun Y. , Hu X. , Adair R. , Chee L. , more...
Am. J. Hum. Genet.70:11-19(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HBM VAL-171
20.

"High bone density due to a mutation in LDL-receptor-related protein 5."
Boyden L.M. , Mao J. , Belsky J. , Mitzner L. , Farhi A. , Mitnick M.A. , Wu D. , Insogna K. , Lifton R.P.
N. Engl. J. Med.346:1513-1521(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HBM VAL-171;CHARACTERIZATION OF VARIANT HBM VAL-171
21.

"Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density."
Van Wesenbeeck L. , Cleiren E. , Gram J. , Beals R.K. , Benichou O. , Scopelliti D. , Key L. , Renton T. , Bartels C. , Gong Y. , Warman M.L. , de Vernejoul M.-C. , Bollerslev J. , Van Hul W.
Am. J. Hum. Genet.72:763-771(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OPTA1 TYR-111; ARG-171; THR-242 AND ILE-253;VARIANTS WENHY THR-214; VAL-214 AND THR-242;VARIANT VBCH2 THR-242;VARIANTS 18-LEU--LEU-20 DEL; LEU-20 INS; ARG-89; MET-667 AND VAL-1330
22.

"Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q."
Toomes C. , Bottomley H.M. , Jackson R.M. , Towns K.V. , Scott S. , Mackey D.A. , Craig J.E. , Jiang L. , Yang Z. , Trembath R. , Woodruff G. , Gregory-Evans C.Y. , Gregory-Evans K. , Parker M.J. , Black G.C.M. , Downey L.M. , Zhang K. , Inglehearn C.F.
Am. J. Hum. Genet.74:721-730(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EVR4 MET-173; HIS-1168 AND GLY-1361;VARIANT VAL-1525
23.

"Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites."
Ferrari S.L. , Deutsch S. , Choudhury U. , Chevalley T. , Bonjour J.-P. , Dermitzakis E.T. , Rizzoli R. , Antonarakis S.E.
Am. J. Hum. Genet.74:866-875(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MET-667 AND VAL-1330
24.

"Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5."
Jiao X. , Ventruto V. , Trese M.T. , Shastry B.S. , Hejtmancik J.F.
Am. J. Hum. Genet.75:878-884(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EVR4 GLN-570; GLY-752 AND LYS-1367
25.

"LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density."
Mizuguchi T. , Furuta I. , Watanabe Y. , Tsukamoto K. , Tomita H. , Tsujihata M. , Ohta T. , Kishino T. , Matsumoto N. , Minakami H. , Niikawa N. , Yoshiura K.
J. Hum. Genet.49:80-86(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ARG-89 AND VAL-1330;FUNCTION;INVOLVEMENT IN OSTEOPOROSIS
26.

"Clinical and molecular findings in osteoporosis-pseudoglioma syndrome."
Osteoporosis-Pseudoglioma collaborative group , Ai M. , Heeger S. , Bartels C.F. , Schelling D.K.
Am. J. Hum. Genet.77:741-753(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OPPG ASN-203; MET-244; PHE-307; TRP-348; GLN-353; LEU-356; LYS-390; GLU-400; ARG-404; ASN-434; LYS-460; GLN-494; VAL-520; TRP-570; ARG-610; ASN-683; HIS-733; TYR-1099; CYS-1113 AND ASP-1401;CHARACTERIZATION OF VARIANTS OPPG MET-244; LEU-356; LYS-390; ARG-404; ASN-434; VAL-520 AND ARG-610;CHARACTERIZATION OF VARIANTS EVR4 MET-173; GLN-570; HIS-1168; GLY-1361 AND LYS-1367
27.

"Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes."
Qin M. , Hayashi H. , Oshima K. , Tahira T. , Hayashi K. , Kondo H.
Hum. Mutat.26:104-112(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EVR4 PHE-145; CYS-444; THR-522; MET-535; ARG-610; CYS-617; ALA-798 AND ASP-1121;VARIANTS VAL-97 AND MET-1540
28.

"Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children."
Hartikka H. , Makitie O. , Mannikko M. , Doria A.S. , Daneman A. , Cole W.G. , Ala-Kokko L. , Sochett E.B.
J. Bone Miner. Res.20:783-789(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PRIMARY OSTEOPOROSIS THR-29 AND GLN-1036
29.

"Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation."
Rickels M.R. , Zhang X. , Mumm S. , Whyte M.P.
J. Bone Miner. Res.20:878-885(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HBM MET-154
30.

"Missense mutations in LRP5 are not a common cause of idiopathic osteoporosis in adult men."
Crabbe P. , Balemans W. , Willaert A. , van Pottelbergh I. , Cleiren E. , Coucke P.J. , Ai M. , Goemaere S. , van Hul W. , de Paepe A. , Kaufman J.-M.
J. Bone Miner. Res.20:1951-1959(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS IDIOPATHIC OSTEOPOROSIS LEU-356 AND LEU-455;VARIANT THR-1537;CHARACTERIZATION OF VARIANTS IDIOPATHIC OSTEOPOROSIS LEU-356 AND LEU-455;CHARACTERIZATION OF VARIANT THR-1537
31.

"A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene."
Cheung W.M.W. , Jin L.Y. , Smith D.K. , Cheung P.T. , Kwan E.Y.W. , Low L. , Kung A.W.C.
Bone39:470-476(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OPPG ARG-478 AND CYS-504
32.

"Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5."
Downey L.M. , Bottomley H.M. , Sheridan E. , Ahmed M. , Gilmour D.F. , Inglehearn C.F. , Reddy A. , Agrawal A. , Bradbury J. , Toomes C.
Br. J. Ophthalmol.90:1163-1167(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EVR4 ARG-550
33.

"A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome."
Barros E.R. , Dias da Silva M.R. , Kunii I.S. , Hauache O.M. , Lazaretti-Castro M.
Osteoporos. Int.18:1017-1018(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OPPG ILE-531
34.

"Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates."
Streeten E.A. , McBride D. , Puffenberger E. , Hoffman M.E. , Pollin T.I. , Donnelly P. , Sack P. , Morton H.
Bone43:584-590(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OPPG ALA-409
35.

"A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats."
Chung B.D. , Kayserili H. , Ai M. , Freudenberg J. , Uzumcu A. , Uyguner O. , Bartels C.F. , Honing S. , Ramirez A. , Hanisch F.G. , Nurnberg G. , Nurnberg P. , Warman M.L. , Wollnik B. , Kubisch C. , Netzer C.
Hum. Mutat.30:641-648(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT 15-LEU--LEU-20 DEL
36.

"Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy."
Boonstra F.N. , van Nouhuys C.E. , Schuil J. , de Wijs I.J. , van der Donk K.P. , Nikopoulos K. , Mukhopadhyay A. , Scheffer H. , Tilanus M.A.D. , Cremers F.P.M. , Hoefsloot L.H.
Invest. Ophthalmol. Vis. Sci.50:4379-4385(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EVR4 ALA-511 AND TRP-805
37.

"Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP."
Nikopoulos K. , Venselaar H. , Collin R.W.J. , Riveiro-Alvarez R. , Boonstra F.N. , Hooymans J.M. , Mukhopadhyay A. , Shears D. , van Bers M. , de Wijs I.J. , van Essen A.J. , Sijmons R.H. , Tilanus M.A.D. , van Nouhuys C.E. , Ayuso C. , Hoefsloot L.H. , Cremers F.P.M.
Hum. Mutat.31:656-666(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EVR4 LYS-441 AND PHE-1253
38.

"Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy."
Fei P. , Zhang Q. , Huang L. , Xu Y. , Zhu X. , Tai Z. , Gong B. , Ma S. , Yao Q. , Li J. , Zhao P. , Yang Z.
Mol. Vis.20:395-409(2014) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT PRO-816;VARIANTS EVR4 THR-422; PRO-540 AND MET-852;CHARACTERIZATION OF VARIANTS EVR4 THR-422; PRO-540 AND MET-852;CHARACTERIZATION OF VARIANT PRO-816

Product Feedback Wall

* Email:
*Comments: