An ARHGAP25 variant links aberrant Rac1 function to early-onset skeletal fragility

Autor: Riikka E. Mäkitie, Renata C. Pereira, Anders Kämpe, Yaming Jiu, Carolina Medina-Gomez, Graham R. Williams, Camilla Schalin-Jäntti, Ulf H. Lerner, Maria Haanpää, Outi Mäkitie, Alice Costantini, Petra Henning, J. H. D. Bassett, Fernando Rivadeneira, Pekka Lappalainen, Ville-Valtteri Välimäki, Konstantin Kogan, Minna Pekkinen, Isidro B. Salusky

Publikováno v: JBMR Plus, Vol 5, Iss 7, Pp n/a-n/a (2021)
JBMR Plus, 5(7):e10509. Wiley-Blackwell Publishing Ltd

Ras homologous guanosine triphosphatases (RhoGTPases) control several cellular functions, including cytoskeletal actin remodeling and cell migration. Their activities are downregulated by GTPase-activating proteins (GAPs). Although RhoGTPases are imp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b82740b978ad00c9771bfb716892f52b
http://hdl.handle.net/10138/336620

Risk profile of the RET A883F germline mutation: an international collaborative study

Autor: Frederic Castinetti, Mouhammed Amir Habra, Karin Frank-Raue, Peter Vestergaard, Anne Paule Gimenez-Roqueplo, Jes Sloth Mathiesen, Sabapathy P. Balasubramanian, Sirazum Choudhury, J. H. D. Bassett, Trevor A. Howlett, Bruce G. Robinson

Publikováno v: Mathiesen, J S, Habra, M A, Bassett, J H D, Choudhury, S M, Balasubramanian, S P, Howlett, T A, Robinson, B G, Gimenez-Roqueplo, A-P, Castinetti, F, Vestergaard, P & Frank-Raue, K 2017, ' Risk profile of the RET A883F germline mutation : an international collaborative study ', Journal of Clinical Endocrinology and Metabolism, vol. 102, no. 6, pp. 2069-2074 . https://doi.org/10.1210/jc.2016-3640

Context: The A883F germline mutation of the rearranged during transfection (RET) proto-oncogene causes multiple endocrine neoplasia 2B. In the revised American Thyroid Association (ATA) guidelines for the management of medullary thyroid carcinoma (MT

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::367c182a4136c15ae6d3580e3984d5a7
https://eprints.whiterose.ac.uk/119634/8/jc.2016-3640.pdf

Proceedings of SCANNING 2006 April 25-27, 2006 Washington, D.C., USA

Autor: Björn Vennström, P. G. T. Howell, Graham R. Williams, S.-Y. Cheng, Alan Boyde, Patrick J. O'Shea, J. H. D. Bassett, Jacques Samarut, Olivier Chassande

Publikováno v: Scanning. 28:57-131

Childhood hypothyroidism causes delayed endochondral ossification, impaired bone mineralization and growth retardation. In contrast, thyrotoxicosis induces accelerated growth, advanced bone age and increased mineralization, but leads to premature clo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::20900ecdf709a8c64108b896eaad0a0d
https://doi.org/10.1002/sca.4950280201

Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism

Autor: Domhnall J O'Halloran, J. H. D. Bassett, Colin G Beardwell, Stephen M Shalet, Rajesh V. Thakker, Graham R. Williams

Publikováno v: Clinical Endocrinology. 50:69-75

OBJECTIVE Mutations of the DAX1 gene (Dosage-sensitive sex reversal-Adrenal hypoplasia congenita critical region on the X chromosome gene 1), which encodes a novel orphan nuclear receptor, have been identified in patients with X-linked adrenal hypopl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::990716b9953b5cc005cf191a87537569
https://doi.org/10.1046/j.1365-2265.1999.00601.x

Thyroid hormone regulates heparan sulfate proteoglycan expression in the growth plate

Autor: Jacques Samarut, R. Swinhoe, Graham R. Williams, J. H. D. Bassett, Olivier Chassande

Publikováno v: Endocrinology
Endocrinology, 2006, 147 (1), pp.295-305
Endocrinology, Endocrine Society, 2006, 147 (1), pp.295-305

Thyroid hormone is essential for normal skeletal development. Hypothyroidism is associated with growth arrest, failure of chondrocyte differentiation, and abnormal matrix synthesis. Thyroid hormone modulates the Indian hedgehog/PTHrP feedback loop an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fd735953c73c5f11334af25bc738f25
https://hal.inrae.fr/hal-02659043