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Plos One
|
May 23, 2012
A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta
Masaki Takagi, Tomohiro Ishii, Aileen M Barnes, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
August 1, 2024
Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta
Alexander Kot, Cora Chun, Jorge H Martin, et al.
American Journal of Human Genetics
|
March 2, 2010
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta
Helena E Christiansen, Ulrike Schwarze, Shawna M Pyott, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
June 1, 2006
Sp1 family of transcription factors regulates the human alpha2 (XI) collagen gene (COL11A2) in Saos-2 osteoblastic cells
Tomohiro Goto, Yoshito Matsui, Russell J Fernandes, et al.
The New England Journal of Medicine
|
January 22, 2010
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding
Aileen M Barnes, Erin M Carter, Wayne A Cabral, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
August 21, 2013
Sc65 is a novel endoplasmic reticulum protein that regulates bone mass homeostasis
Katrin Gruenwald, Patrizio Castagnola, Roberta Besio, et al.
Human Molecular Genetics
|
November 5, 2021
Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome
Keren Machol, Urszula Polak, Monika Weisz-Hubshman, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 23, 2021
Localized chondro-ossification underlies joint dysfunction and motor deficits in the <i>Fkbp10</i> mouse model of osteogenesis imperfecta
Joohyun Lim, Caressa Lietman, Matthew W Grol, et al.
American Journal of Human Genetics
|
November 2, 2010
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene
Stuart W Tompson, Carlos A Bacino, Nicole P Safina, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
August 20, 2016
Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome
Charlotte Gistelinck, Paul Eckhard Witten, Ann Huysseune, et al.
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Search research articles
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Showing results (41-50 of 73) with videos related to
Sort By:
Page
of 8
Plos One
|
May 23, 2012
A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta
Masaki Takagi, Tomohiro Ishii, Aileen M Barnes, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
August 1, 2024
Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta
Alexander Kot, Cora Chun, Jorge H Martin, et al.
American Journal of Human Genetics
|
March 2, 2010
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta
Helena E Christiansen, Ulrike Schwarze, Shawna M Pyott, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
June 1, 2006
Sp1 family of transcription factors regulates the human alpha2 (XI) collagen gene (COL11A2) in Saos-2 osteoblastic cells
Tomohiro Goto, Yoshito Matsui, Russell J Fernandes, et al.
The New England Journal of Medicine
|
January 22, 2010
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding
Aileen M Barnes, Erin M Carter, Wayne A Cabral, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
August 21, 2013
Sc65 is a novel endoplasmic reticulum protein that regulates bone mass homeostasis
Katrin Gruenwald, Patrizio Castagnola, Roberta Besio, et al.
Human Molecular Genetics
|
November 5, 2021
Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome
Keren Machol, Urszula Polak, Monika Weisz-Hubshman, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 23, 2021
Localized chondro-ossification underlies joint dysfunction and motor deficits in the <i>Fkbp10</i> mouse model of osteogenesis imperfecta
Joohyun Lim, Caressa Lietman, Matthew W Grol, et al.
American Journal of Human Genetics
|
November 2, 2010
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene
Stuart W Tompson, Carlos A Bacino, Nicole P Safina, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
August 20, 2016
Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome
Charlotte Gistelinck, Paul Eckhard Witten, Ann Huysseune, et al.
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