David R Eyre
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Explore the profile of David R Eyre including associated specialties, affiliations and a list of published articles.
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75
Citations
2932
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Recent Articles
1.
Kot A, Chun C, Martin J, Wachtell D, Hudson D, Weis M, et al.
J Bone Miner Res
. 2024 Aug;
39(9):1240-1252.
PMID: 39088537
Bruck syndrome is an autosomal recessive form of osteogenesis imperfecta caused by biallelic variants in PLOD2 or FKBP10 and is characterized by joint contractures, bone fragility, short stature, and scoliosis....
2.
Yeung C, Garva R, Pickard A, Lu Y, Mallikarjun V, Swift J, et al.
Matrix Biol
. 2023 Nov;
124:8-22.
PMID: 37913834
The circadian clock in tendon regulates the daily rhythmic synthesis of collagen-I and the appearance and disappearance of small-diameter collagen fibrils in the extracellular matrix. How the fibrils are assembled...
3.
Hudson D, Archer M, Rai J, Weis M, Fernandes R, Eyre D
Matrix Biol Plus
. 2021 Nov;
12:100070.
PMID: 34825162
Tendons and ligaments tend to be pooled into a single category as dense elastic bands of collagenous connective tissue. They do have many similar properties, for example both tissues are...
4.
Machol K, Polak U, Weisz-Hubshman M, Song I, Chen S, Jiang M, et al.
Hum Mol Genet
. 2021 Nov;
31(8):1325-1335.
PMID: 34740257
Type V collagen is a regulatory fibrillar collagen essential for type I collagen fibril nucleation and organization and its deficiency leads to structurally abnormal extracellular matrix (ECM). Haploinsufficiency of the...
5.
Marom R, Burrage L, Venditti R, Clement A, Blanco-Sanchez B, Jain M, et al.
Am J Hum Genet
. 2021 Aug;
108(9):1710-1724.
PMID: 34450031
Coatomer complexes function in the sorting and trafficking of proteins between subcellular organelles. Pathogenic variants in coatomer subunits or associated factors have been reported in multi-systemic disorders, i.e., coatopathies, that...
6.
Lim J, Lietman C, Grol M, Castellon A, Dawson B, Adeyeye M, et al.
Proc Natl Acad Sci U S A
. 2021 Jun;
118(25).
PMID: 34161280
Osteogenesis imperfecta (OI) is a genetic disorder that features wide-ranging defects in both skeletal and nonskeletal tissues. Previously, we and others reported that loss-of-function mutations in FK506 Binding Protein 10...
7.
Grol M, Haelterman N, Lim J, Munivez E, Archer M, Hudson D, et al.
Elife
. 2021 May;
10.
PMID: 34036937
Osteogenesis imperfecta (OI) is characterized by short stature, skeletal deformities, low bone mass, and motor deficits. A subset of OI patients also present with joint hypermobility; however, the role of...
8.
Gistelinck C, Weis M, Rai J, Schwarze U, Niyazov D, Song K, et al.
JBMR Plus
. 2021 Mar;
5(3):e10454.
PMID: 33778323
Bruck syndrome (BS) is a congenital disorder characterized by joint flexion contractures, skeletal dysplasia, and increased bone fragility, which overlaps clinically with osteogenesis imperfecta (OI). On a genetic level, BS...
9.
Gorski J, Franz N, Pernoud D, Keightley A, Eyre D, Oxford J
J Biol Chem
. 2021 Feb;
296:100436.
PMID: 33610546
While details remain unclear, initiation of woven bone mineralization is believed to be mediated by collagen and potentially nucleated by bone sialoprotein (BSP). Interestingly, our recent publication showed that BSP...
10.
Essawi O, Tapaneeyaphan P, Symoens S, Gistelinck C C, Malfait F, Eyre D, et al.
Eur J Med Genet
. 2020 Jun;
63(9):103980.
PMID: 32531462
To date 45 autosomal recessive disease-causing variants are reported in the FKBP10 gene. Those variant were found to be associated with Osteogenesis Imperfecta (OI) for which the hallmark phenotype is...