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Molecular and genetic characterization of the new risk factors of bone diseases and response to treatments

Lrp5 gene has a prominent place among the identified genes of our osteoporotic cohort. Lrp5 activates the non-canonical Wnt pathway considered initially as predominant but also the non-canonical pathways. The link between the mutation and bone cell function, the mechanisms of regulation of the Wnt pathways and the impact of anti-sclerostin therapies in the presence of this mutation are unknown. Our goals are to characterize the bone impact of: 1) the p.Val667Met mutation by analyzing the bone phenotype of mutated p.Val667Met mice that will be delivered end of 2017, 2) the mutation on Wnt pathways in stromal progenitors and in bone cells, 3) Anti-sclerostin antibodies in the presence of the mutation. Finally, the genetic approach of bone fragility is part of a larger project to phenotypically characterize rare bone diseases in adulthood and the response to new therapies. Our label as an adult reference center supports this clinical research project and is illustrated by the industrial therapeutic trials for progressive ossifying dysplasia and osteogenesis imperfecta. The approach based on pathophysiology and molecular targeting will be applied to osteoporosis and tumor bone.

The identification of factors involved in bone anabolism remains a priority. The specification of osteoblastic differentiation will be investigated for the identification of partners of Dlx5, a transcription factor that commits towards terminal differentiation. Partners involved in terminal differentiation will be found by proteomics, in silico techniques and crystallography at different stages of differentiation.


COLLET Corinne

ORCEL Philippe


PU PH Directrice



S. Fabre Thèse
M. Ricquebourg Technicienne


P.E. Cailleaux Thèse



Altiner S, Karabulut HG, Yararbas K, Tükün A, Collet C, Kocaay P, Berberoglu M, Ilgin Ruhi H. A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome. Clin Dysmorphol. 2016 Nov 18.

Apra C, Collet C, Arnaud E, Di Rocco F. FGFR2 splice site mutations in Crouzon and Pfeiffer syndromes: two novel variants. Clin. Genet. 2016; 89 ; 746-8.

Biha N, Ghaber SM, Hacen MM, Collet C. Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5. Case Rep Genet. 2016, 9814928

Chabbi-Achengli Y*, Coman T*, Collet C, Callebert J, Corcelli M, Lin H, Rignault R, Dy M, de Vernejoul MC, Côté F. *equivalent position. Serotonin Is Involved in Autoimmune Arthritis through Th17 Immunity and Bone Resorption. Am J Pathol. 2016 ; 186: 927-37.

Funck-Brentano T, Ostertag A, Debiais F, Fardellone P, Collet C, Mornet E, Cohen-Solal M. Identification of a p.Arg708Gln variant in COL1A2 in atypical femoral fractures. Joint Bone Spine. 2016 Dec 23. pii: S1297-319X(16)30220-2

Heusschen R, Muller J, Binsfeld M, Marty C, Plougonven E, Dubois S, Mahli N, Moermans K, Carmeliet G, Léonard A, Baron F, Beguin Y, Menu E, Cohen-Solal M, Caers J. SRC kinase inhibition with saracatinib limits the development of osteolytic bone disease in multiple myeloma. Oncotarget. 2016 May 24;7(21):30712-29

Ledemazel J, Plantaz D, Pagnier A, Girard P, Lasfargue M, Hullo E, Dietrich K, Collet C, Moshous D. Malignant infantile osteopetrosis: Case report of a 5-month-old boy. Arch Pediatr. 2016; 23: 389-93.

Lhaneche L, Hald JD, Domingues A, Hannouche D, Delepine M, Zelenika D, Boland A, Ostertag A, Cohen-Solal M, Langdahl BL, Harsløf T, de Vernejoul MC, Geoffroy V, Jehan F. Variations of SOST mRNA expression in human bone are associated with DNA polymorphism and DNA methylation in the SOST gene. Bone. 2016 Nov;92:107-115

Maravic M, Ostertag A, Urena P, Cohen-Solal M. Dementia is a major risk factor for hip fractures in patients with chronic kidney disease. Osteoporos Int. 2016 Apr;27(4):1665-9

Ostertag A, Peyrin F, Gouttenoire PJ, Laredo JD, DeVernejoul MC, Cohen Solal M, Chappard C. Multiscale and multimodality computed tomography for cortical bone analysis. Phys Med Biol. 2016 Dec 21;61(24):8553-8576

Sanchez K, Palazzo C, Escalas C, Rannou F, Lefèvre-Colau MM, Ayral X, Beaudreuil J, Poiraudeau S. Patient-preference disability assessment for disabling knee osteoarthritis: Validity and responsiveness of the McMaster-Toronto Arthritis Patient Preference Disability Questionnaire. Ann Phys Rehabil Med. 2016;59:255-62.

Sellier P, Ostertag A, Collet C, Trout H, Champion K, Fernandez S, Lopes A, Morgand M, Clevenbergh P, Evans J, Souak S, de Vernejoul MC, Bergmann JF. Disrupted trabecular bone micro-architecture in middle-aged male HIV-infected treated patients. HIV Med. 2016; 17: 550-6.

Souberbielle JC, Bendavid S, Blain H, Bousson V, Breuil V, Briot K, Chapurlat R, Chapuis L, Cohen-Solal M, Fardellone P, Feron JM, Gauvain JB, Laroche M, Legrand E, Lespessailles E, Linglart A, Marcelli C, Roux C, Sutter B, Thomas T, Trémollières F, Weryha G, Cortet B. Reimbursment of the serum CTX assay in France: the clinical biology nomenclature is incoherent. Ann Biol Clin (Paris). 2016 Aug 1;74(4):381-3

Stichelbout M, Dieux-Coeslier A, Clouqueur E, Collet C, Petit F. A new case of bent bone dysplasia–FGFR2 type and review of the literature. Am. J. Med. Genet. A. 2016 ; 170 : 785-9.

Charlier, Caroline; Perrodeau, Elodie; Leclercq, Alexandre; Cazenave, Benoit; Pilmis, Benoit; Henry, Benoit; Lopes, Amanda; Maury, Mylene M.; Moura, Alexandra; Goffinet, Francois; Dieye, Helene Bracq; Thouvenot, Pierre; Ungeheuer, Marie-Noelle; Tourdjman, Mathieu; Goulet, Veronique; de Valk, Henriette; Lortholary, Olivier; Ravaud, Philippe; Lecuit, Marc. Clinical features and prognostic factors of listeriosis: the MONALISA national prospective cohort study. LANCET INFECTIOUS DISEASES. 2017;17(5):510-519

Collet, C; Ostertag, A; Ricquebourg, M; Delecourt, M; Tueur, G; Funck-Brentano, T; Orcel, P; Laplanche, JL; Cohen-Solal M. Identification of rare variants in young adults with idiopathic osteoporosis., J. Bone Miner. Res. Plus. 2017 Volume 2, Issue 1, Version of Record online: 6 Nov 2017

Funck-Brentano, Thomas; Ostertag, Agnes; Debiais, Francoise; Fardellone, Patrice; Collet, Corinne; Mornet, Etienne; Cohen-Solal, Martine. Identification of a p.Arg708Gln variant in COL1A2 in atypical femoral fractures. JOINT BONE SPINE. 2017;84(6):715-718

Rochoux, Quitterie; Leon, Nathalie; Brehin, Anne-Claire; Michel, Murielle; Orcel, Philippe; Marcelli, Christian. A case of Hajdu-Cheney syndrome associated with psoriatic rheumatism, two causes of acro-osteolysis. Joint, bone, spine : revue du rhumatisme. 2017. 10.1016/j.jbspin.2017.05.025

Torres, Pablo Antonio Urena; Cohen-Solal, Martine. Evaluation of fracture risk in chronic kidney disease. JOURNAL OF NEPHROLOGY. 2017 ;30(5):653-661




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Tumor & microenvironment


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Microcrystal & diseases


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