PMC Links for OMIM (Select 603506) - PMC

Select item 39861191.

Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis

Wybrich R. Cnossen, René H. M. te Morsche, Alexander Hoischen, Christian Gilissen, Melissa Chrispijn, Hanka Venselaar, Soufi Mehdi, Carsten Bergmann, Joris A. Veltman, Joost P. H. Drenth

Proc Natl Acad Sci U S A. 2014 Apr 8; 111(14): 5343–5348. Published online 2014 Mar 24. doi: 10.1073/pnas.1309438111

PMCID:: PMC3986119

Abstract Article PDF–912K

Select item 31134612.

Lrp5 functions in bone to regulate bone mass

Yajun Cui, Paul J. Niziolek, Bryan T. MacDonald, Cassandra R. Zylstra, Natalia Alenina, Daniel R. Robinson, Zhendong Zhong, Susann Matthes, Christina M. Jacobsen, Ronald A. Conlon, Robert Brommage, Qingyun Liu, Faika Mseeh, David R. Powell, Qi Yang, Brian Zambrowicz, Han Gerrits, Jan A. Gossen, Xi He, Michael Bader, Bart O. Williams, Matthew L. Warman, Alexander G. Robling

Nat Med. Author manuscript; available in PMC 2011 Dec 1.

Published in final edited form as: Nat Med. 2011 Jun; 17(6): 684–691. Published online 2011 May 22. doi: 10.1038/nm.2388

PMCID:: PMC3113461

Abstract Article PDF–5.1M

Select item 26143323.

Lrp5 controls bone formation by inhibiting serotonin synthesis in the duodenum: an entero-bone endocrine axis

Vijay K. Yadav, Je-Hwang Ryu, Nina Suda, Kenji Tanaka, Jay A. Gingrich, Günther Schütz, Francis H. Glorieux, Cherie Y. Chiang, Jeffrey D Zajac, Karl L. Insogna, J. John Mann, Rene Hen, Patricia Ducy, Gerard Karsenty

Cell. Author manuscript; available in PMC 2009 Nov 28.

Published in final edited form as: Cell. 2008 Nov 28; 135(5): 825–837. doi: 10.1016/j.cell.2008.09.059

PMCID:: PMC2614332

Abstract Article PDF–3.0M

Select item 21992634.

Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor

Masaki Kato, Millan S. Patel, Regis Levasseur, Ivan Lobov, Benny H.-J. Chang, Donald A. Glass, II, Christine Hartmann, Lan Li, Tae-Ho Hwang, Cory F. Brayton, Richard A. Lang, Gerard Karsenty, Lawrence Chan

J Cell Biol. 2002 Apr 15; 157(2): 303–314. doi: 10.1083/jcb.200201089

PMCID:: PMC2199263

Abstract Article PDF–779K

Select item 19207885.

Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity

H Kondo, H Hayashi, K Oshima, T Tahira, K Hayashi

Br J Ophthalmol. 2003 Oct; 87(10): 1291–1295. doi: 10.1136/bjo.87.10.1291

PMCID:: PMC1920788

Abstract Article PDF–1.3M

Select item 18294856.

Polymorphisms of the low‐density lipoprotein receptor‐related protein 5 (LRP5) gene are associated with obesity phenotypes in a large family‐based association study

Yan‐fang Guo, Dong‐hai Xiong, Hui Shen, Lan‐juan Zhao, Peng Xiao, Yan Guo, Wei Wang, Tie‐lin Yang, Robert R Recker

J Med Genet. 2006 Oct; 43(10): 798–803. Published online 2006 May 24. doi: 10.1136/jmg.2006.041715

PMCID:: PMC1829485

Abstract Article PDF–605K

Select item 13120717.

Familial exudative vitreoretinopathy.

W E Benson

Trans Am Ophthalmol Soc. 1995; 93: 473–521.

PMCID:: PMC1312071

Summary Page Browse PDF–9.4M

Select item 12976598.

Lrp5-independent activation of Wnt signaling by lithium chloride increases bone formation and bone mass in mice

Philippe Clément-Lacroix, Minrong Ai, Frederic Morvan, Sergio Roman-Roman, Béatrice Vayssière, Cecille Belleville, Kenneth Estrera, Matthew L. Warman, Roland Baron, Georges Rawadi

Proc Natl Acad Sci U S A. 2005 Nov 29; 102(48): 17406–17411. Published online 2005 Nov 17. doi: 10.1073/pnas.0505259102

PMCID:: PMC1297659

Abstract Article PDF–833K

Select item 12713849.

Clinical and Molecular Findings in Osteoporosis-Pseudoglioma Syndrome

Minrong Ai, Shauna Heeger, Cynthia F. Bartels, Deborah K. Schelling, Osteoporosis-Pseudoglioma Collaborative Group

Am J Hum Genet. 2005 Nov; 77(5): 741–753. Published online 2005 Sep 27. doi: 10.1086/497706

PMCID:: PMC1271384

Abstract Article PDF–1.0M

Select item 118211710.

Autosomal Recessive Familial Exudative Vitreoretinopathy Is Associated with Mutations in LRP5

Xiaodong Jiao, Valerio Ventruto, Michael T. Trese, Barkur S. Shastry, J. Fielding Hejtmancik

Am J Hum Genet. 2004 Nov; 75(5): 878–884. Published online 2004 Sep 2. doi: 10.1086/425080

PMCID:: PMC1182117

Abstract Article PDF–305K

Select item 118198111.

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

Serge L. Ferrari, Samuel Deutsch, Urmila Choudhury, Thierry Chevalley, Jean-Philippe Bonjour, Emmanouil T. Dermitzakis, René Rizzoli, Stylianos E. Antonarakis

Am J Hum Genet. 2004 May; 74(5): 866–875. Published online 2004 Apr 7. doi: 10.1086/420771

PMCID:: PMC1181981

Abstract Article PDF–260K

Select item 118194812.

Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q

Carmel Toomes, Helen M. Bottomley, Richard M. Jackson, Katherine V. Towns, Sheila Scott, David A. Mackey, Jamie E. Craig, Li Jiang, Zhenglin Yang, Richard Trembath, Geoffrey Woodruff, Cheryl Y. Gregory-Evans, Kevin Gregory-Evans, Michael J. Parker, Graeme C. M. Black, Louise M. Downey, Kang Zhang, Chris F. Inglehearn

Am J Hum Genet. 2004 Apr; 74(4): 721–730. Published online 2004 Mar 11. doi: 10.1086/383202

PMCID:: PMC1181948

Abstract Article PDF–862K

Select item 118025313.

Six Novel Missense Mutations in the LDL Receptor-Related Protein 5 (LRP5) Gene in Different Conditions with an Increased Bone Density

Liesbeth Van Wesenbeeck, Erna Cleiren, Jeppe Gram, Rodney K. Beals, Olivier Bénichou, Domenico Scopelliti, Lyndon Key, Tara Renton, Cindy Bartels, Yaoqin Gong, Matthew L. Warman, Marie-Christine de Vernejoul, Jens Bollerslev, Wim Van Hul

Am J Hum Genet. 2003 Mar; 72(3): 763–771. Published online 2003 Feb 10. doi: 10.1086/368277

PMCID:: PMC1180253

Abstract Article PDF–551K

Select item 43091914.

Haplotype Structure, LD Blocks, and Uneven Recombination Within the LRP5 Gene

Rebecca C.J. Twells, Charles A. Mein, Michael S. Phillips, J. Fred Hess, Riitta Veijola, Matthew Gilbey, Matthew Bright, Michael Metzker, Benedicte A. Lie, Amanda Kingsnorth, Edward Gregory, Yusuke Nakagawa, Hywel Snook, William Y.S. Wang, Jennifer Masters, Gillian Johnson, Iain Eaves, Joanna M.M. Howson, David Clayton, Heather J. Cordell, Sarah Nutland, Helen Rance, Philippa Carr, John A. Todd

Genome Res. 2003 May 1; 13(5): 845–855. doi: 10.1101/gr.563703

PMCID:: PMC430919

Abstract Article PDF–375K

Select item 41998215.

A Mutation in the LDL Receptor–Related Protein 5 Gene Results in the Autosomal Dominant High–Bone-Mass Trait

Randall D. Little, John P. Carulli, Richard G. Del Mastro, Josée Dupuis, Mark Osborne, Colleen Folz, Susan P. Manning, Pamela M. Swain, Shan-Chuan Zhao, Brenda Eustace, Michelle M. Lappe, Lia Spitzer, Susan Zweier, Karen Braunschweiger, Youssef Benchekroun, Xintong Hu, Ronald Adair, Linda Chee, Michael G. FitzGerald, Craig Tulig, Anthony Caruso, Nia Tzellas, Alicia Bawa, Barbara Franklin, Shannon McGuire, Xavier Nogues, Gordon Gong, Kristina M. Allen, Anthony Anisowicz, Arturo J. Morales, Peter T. Lomedico, Susan M. Recker, Paul Van Eerdewegh, Robert R. Recker, Mark L. Johnson

Am J Hum Genet. 2002 Jan; 70(1): 11–19. Published online 2001 Dec 3. doi: 10.1086/338450

PMCID:: PMC419982

Abstract Article PDF–780K

Select item 14093516.

Low-density lipoprotein receptor-related protein 5 (LRP5) is essential for normal cholesterol metabolism and glucose-induced insulin secretion

Takahiro Fujino, Hiroshi Asaba, Man-Jong Kang, Yukio Ikeda, Hideyuki Sone, Shinji Takada, Dong-Ho Kim, Ryoichi X. Ioka, Masao Ono, Hiroko Tomoyori, Minoru Okubo, Toshio Murase, Akihisa Kamataki, Joji Yamamoto, Kenta Magoori, Sadao Takahashi, Yoshiharu Miyamoto, Hisashi Oishi, Masato Nose, Mitsuyo Okazaki, Shinichi Usui, Katsumi Imaizumi, Masashi Yanagisawa, Juro Sakai, Tokuo T. Yamamoto

Proc Natl Acad Sci U S A. 2003 Jan 7; 100(1): 229–234. Published online 2002 Dec 30. doi: 10.1073/pnas.0133792100

PMCID:: PMC140935

Abstract Article PDF–257K

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