Results 221 to 230 of about 21,385 (242)

LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION

Retina, 2022
Purpose: To analyze the clinical features of LRP5 gene mutation-related familial exudative vitreoretinopathy and explore the potential phenotype–genotype correlation on LRP5 gene. Methods: Eighty-seven familial exudative vitreoretinopathy (FEVR) families with LRP5 mutations were ...
Chunli Chen, Xiang Zhang, Xiaoyan Peng, Feng Hu, Yizhe Cheng, Peiquan Zhao   +5 more
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Lrp5 and bone formation

Annals of the New York Academy of Sciences, 2010
Lrp5, the mutated gene in osteoporosis pseudoglioma (OPPG) and the high bone‐mass syndrome (HBM), regulates bone formation, while β‐catenin, the molecular node of Wnt signaling, regulates bone resorption, suggesting that Lrp5 could act in a Wnt‐independent manner.
Vijay K, Yadav, Patricia, Ducy
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LRP5/6 in Wnt Signaling and Tumorigenesis

Future Oncology, 2005
The canonical Wnt signaling pathway is frequently overactivated in several types of human cancer. Defects in different components of the Wnt signaling pathway promote tumorigenesis and tumor progression. Accordingly, the pathway has been intensely studied to understand its importance in cancer biology and as therapeutic target.
Li, Yonghe, Bu, Guojun
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LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia

European Journal of Medical Genetics, 2017
Microphthalmia is defined as the measurement of the total axial length of the eyeball to be below average of the two standard deviation according to the age. While several genes have been identified so far related to microphthalmia, the genetic etiology of the disease has not been fully understood because of genetic heterogeneity observed in this ...
Sezen Guntekin Ergun, Guvem Gumus Akay, Mehmet Ali Ergun, E. Ferda Perçin   +3 more
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The Binding Between Sclerostin and LRP5 is Altered by DKK1 and by High-Bone Mass LRP5 Mutations

Calcified Tissue International, 2008
Low-density lipoprotein receptor-related protein 5 (LRP5), a Wnt coreceptor, plays an important role in bone metabolism as loss-of-function and gain-of-function mutations in LRP5 result in the autosomal recessive osteoporosis-pseudoglioma syndrome and autosomal dominant high-bone mass (HBM) phenotypes, respectively.
Balemans, Wendy, Piters, Elke, Cleiren, Erna, Ai, Minrong, van Wesenbeeck, Liesbeth, Warman, Matthew L., Van Hul, Wim   +6 more
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Bone biomechanical properties in LRP5 mutant mice

Bone, 2004
The mutation responsible for the high bone mass (HBM) phenotype has been postulated to act through the adaptive response of bone to mechanical load resulting in denser and stronger skeletons in humans and animals. The bone phenotype of members of a HBM family is characterized by normally shaped bones that are exceptionally dense, particularly at load ...
M P, Akhter, D J, Wells, S J, Short, D M, Cullen, M L, Johnson, G R, Haynatzki, P, Babij, K M, Allen, P J, Yaworsky, F, Bex, R R, Recker   +10 more
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LRP5 gene polymorphisms and idiopathic osteoporosis in men

Bone, 2005
Mutations in the low-density lipoprotein receptor-related protein 5 gene (LRP5) have demonstrated the role of LRP5 in bone mass acquisition. LRP5 variants were recently reported to contribute to the population-based variance in vertebral bone mass and size in males. To investigate whether LRP5 variants are implicated in idiopathic male osteoporosis, we
Ferrari, Serge Livio, Deutsch, Samuel, Baudoin, C., Cohen-Solal, M., Ostertag, A., Antonarakis, Stylianos, Rizzoli, René, de Vernejoul, M. C.   +7 more
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Genetic Analysis of Lrp5 Function in Osteoblast Progenitors

Calcified Tissue International, 2010
The low-density lipoprotein receptor-related protein (Lrp)-5 regulates osteoblast proliferation and bone formation through its expression in duodenum by modifying the gut serotonin-bone endocrine axis. However, its direct role, if any, in osteoblast progenitor cells has not been studied thus far.
Yadav, Vijay K., Arantes, Henrique Pierotti UNIFESP, Barros, Elizabete Ribeiro UNIFESP, Lazaretti-Castro, Marise UNIFESP, Ducy, Patricia   +4 more
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LRP5: From bedside to bench to bone

Bone, 2017
A role for low-density lipoprotein-related receptor 5 (LRP5) in human bone was first established by the identification of genetic alterations that led to dramatic changes in bone mass. Shortly thereafter, mutations that altered the function of the sclerostin (SOST) gene were also associated with altered human bone mass.
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Association of LRP5 haplotypes with osteoporosis in Mexican women

Molecular Biology Reports, 2012
Osteoporosis is a common health problem in Mexico, so it is essential to investigate the status of different gene polymorphisms that could serve as genetic susceptibility markers in the Mexican population. Genes with a role in bone metabolism are excellent candidates for association studies.
Edith, Falcón-Ramírez, Leonora, Casas-Avila, Ricardo M, Cerda-Flores, Clementina, Castro-Hernández, Julieta, Rubio-Lightbourn, Rafael, Velázquez-Cruz, Pilar, Diez-G, Rosenda, Peñaloza-Espinosa, Margarita, Valdés-Flores   +8 more
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