The collagen receptor, discoidin domain receptor 2, functions in Gli1-positive skeletal progenitors and chondrocytes to control bone development

Autor: Fatma F. Mohamed, Chunxi Ge, Randy T. Cowling, Daniel Lucas, Shawn A. Hallett, Noriaki Ono, Abdul-Aziz Binrayes, Barry Greenberg, Renny T. Franceschi

Publikováno v: Bone Research, Vol 10, Iss 1, Pp 1-17 (2022)

Abstract Discoidin Domain Receptor 2 (DDR2) is a collagen-activated receptor kinase that, together with integrins, is required for cells to respond to the extracellular matrix. Ddr2 loss-of-function mutations in humans and mice cause severe defects i

Externí odkaz: https://doaj.org/article/56485f1806c24fdc8d8930681ca58974

Gene Therapy Using Recombinant AAV Type 8 Vector Encoding TNAP‐D10 Improves the Skeletal Phenotypes in Murine Models of Osteomalacia

Autor: Flavia Amadeu de Oliveira, Fatma F. Mohamed, Yuka Kinoshita, Sonoko Narisawa, Colin Farquharson, Koichi Miyake, Brian L Foster, Jose Luis Millan

Publikováno v: JBMR Plus, Vol 7, Iss 1, Pp n/a-n/a (2023)

ABSTRACT Hypophosphatasia (HPP), caused by loss‐of‐function mutations in the ALPL gene encoding tissue‐nonspecific alkaline phosphatase (TNAP), is characterized by skeletal and dental hypomineralization that can vary in severity from life‐thr

Externí odkaz: https://doaj.org/article/513ba8e0b1914747a10e53df0d3557f7

Dentoalveolar Defects of Hypophosphatasia are Recapitulated in a Sheep Knock‐In Model

Autor: Fatma F. Mohamed, Michael B. Chavez, Shannon Huggins, Joshua Bertels, Alyssa Falck, Larry J. Suva, Brian L. Foster, Dana Gaddy

Publikováno v: Journal of Bone and Mineral Research. 37:2005-2017

Hypophosphatasia (HPP) is the inherited error-of-metabolism caused by mutations in ALPL, reducing the function of tissue-nonspecific alkaline phosphatase (TNAP/TNALP/TNSALP). HPP is characterized by defective skeletal and dental mineralization and is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e145b68bc133f4aecf1e59b285d67db0
https://doi.org/10.1002/jbmr.4666

Control of craniofacial development by the collagen receptor, discoidin domain receptor 2

Autor: Shawn A Hallett, Chunxi Ge, Fatma F Mohamed, Alec C Bancroft, Randy T Cowling, Noriaki Ono, Abdul-Aziz Binrayes, Barry Greenberg, Benjamin Levi, Vesa M Kaartinen, Renny T Franceschi

Publikováno v: eLife. 12

Development of the craniofacial skeleton requires interactions between progenitor cells and the collagen-rich extracellular matrix (ECM). The mediators of these interactions are not well-defined. Mutations in the discoidin domain receptor 2 gene (DDR

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9be2064af20b97cd47543450ab3ab41d
https://doi.org/10.7554/elife.77257

Gene therapy using recombinant AAV type 8 vector encoding TNAP-D10 improves the skeletal phenotypes in murine models of osteomalacia

Autor: Flavia Amadeu de Oliveira, Fatma F. Mohamed, Yuka Kinoshita, Sonoko Narisawa, Colin Farquharson, Koichi Miyake, Brian L Foster, Jose Luis Millan

Publikováno v: Amadeu De Oliveira, F, Mohamed, F F, Kinoshita, Y, Narisawa, S, Farquharson, C, Miyake, K, Foster, B L & Millán, J L 2022, ' Gene therapy using recombinant AAV type 8 vector encoding TNAP-D10 improves the skeletal phenotypes in murine models of osteomalacia ', JBMR Plus, vol. 7, no. 1, e10709, pp. 1-16 . https://doi.org/10.1002/jbm4.10709

Hypophosphatasia (HPP), caused by loss-of-function mutations in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNAP), is characterized by skeletal and dental hypomineralization that can vary in severity from life-threatening to milde

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c5b95f9b7f3625e0eba945f7bb67495
https://www.pure.ed.ac.uk/ws/files/314821450/JBMR_Plus_2022_Amadeu_de_Oliveira_Gene_Therapy_Using_Recombinant_AAV_Type_8_Vector_Encoding_TNAP_D10_Improves_the_1_.pdf