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Bone Overgrowth-associated Mutations in the LRP4 Gene Impair Sclerostin Facilitator Function*
Humans lacking sclerostin display progressive bone overgrowth due to increased bone formation. Although it is well established that sclerostin is an osteocyte-secreted bone formation inhibitor, theExpand
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Founder Effect in Different European Countries for the Recurrent P392L SQSTM1 Mutation in Paget’s Disease of Bone
Paget’s Disease of Bone (PDB) is one of the most frequent metabolic bone diseases, affecting 1–5% of Western populations older than 55 years. Mutations in the sequestosome1 (SQSTM1) gene cause PDB inExpand
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Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone
RANK (receptor activator of nuclear factor‐κB), encoded by TNFRSF11A, is a key protein in osteoclastogenesis. TNFRSF11A mutations cause Paget's disease of bone (PDB)–like diseases (ie, familialExpand
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A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin.
Sclerosteosis is a severe, rare, autosomal recessive bone condition that is characterized by a progressive craniotubular hyperostosis. The main features are a significant sclerosis of the long bones,Expand
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Identification of mutations in the NUCB2/nesfatin gene in children with severe obesity.
Nesfatin-1 is the N-terminal fragment of nucleobindin-2 (NUCB2) that was identified as a novel satiety molecule in rodents. The protein is reported to exert anorexigenic effects and appears to playExpand
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BONE OVERGROWTH-ASSOCIATED MUTATIONS IN LRP 4 IMPAIR SCLEROSTIN-FACILITATOR FUNCTION
Olivier Leupin 1* , Elke Piters 2* , Christine Halleux 1 , Shouih Hu 1 , Ina Kramer 1 , Frederic Morvan 1 , Tewis Bouwmeester 3,4 , Markus Schirle 5 , Manuel Bueno-Lozano 6 , Feliciano J RamosExpand
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Refined Genomic Localization of the Genetic Lesion in the Osteopetrosis (op) Rat and Exclusion of Three Positional and Functional Candidate Genes, Clcn7, Atp6v0c, and Slc9a3r2
Osteopetrosis is a disease characterised by a generalized skeletal sclerosis resulting from a reduced osteoclast-mediated bone resorption. Several spontaneous mutations lead to osteopetroticExpand
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First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function
Sclerosteosis is a rare bone dysplasia characterized by greatly increased bone mass, especially of the long bones and the skull. Patients are tall, show facial asymmetry and often have syndactyly.Expand
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Trolox and Ascorbic Acid Reduce Direct and Indirect Oxidative Stress in the IPEC-J2 Cells, an In Vitro Model for the Porcine Gastrointestinal Tract
Oxidative stress in the small intestinal epithelium is a major cause of barrier malfunction and failure to regenerate. This study presents a functional in vitro model using the porcine smallExpand
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