Tissue inhibitor of metalloproteinase (TIMP)‐1: the TIMPed balance of matrix metalloproteinases in the central nervous system
J Gardner, A Ghorpade - Journal of neuroscience research, 2003 - Wiley Online Library
Astrocytes are intimately involved in the mechanisms of neural injury and repair. They
participate in a variety of homeostatic functions and elicit repair responses as balance …
participate in a variety of homeostatic functions and elicit repair responses as balance …
[PDF][PDF] Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot–containing protein
ME Brunkow, JC Gardner, J Van Ness… - The American Journal of …, 2001 - cell.com
Sclerosteosis is an autosomal recessive sclerosing bone dysplasia characterized by
progressive skeletal overgrowth. The majority of affected individuals have been reported in …
progressive skeletal overgrowth. The majority of affected individuals have been reported in …
A 52‐kb deletion in the SOST‐MEOX1 intergenic region on 17q12‐q21 is associated with van Buchem disease in the Dutch population
K Staehling‐Hampton, S Proll… - American journal of …, 2002 - Wiley Online Library
Van Buchem disease is an autosomal recessive sclerosing bone dysplasia characterized by
skeletal hyperostosis, overgrowth of the mandible, and a liability to entrapment of the …
skeletal hyperostosis, overgrowth of the mandible, and a liability to entrapment of the …
A review of usability evaluation methods and their use for testing eHealth HIV interventions
R Davis, J Gardner, R Schnall - Current HIV/AIDS Reports, 2020 - Springer
Abstract Purpose of Review To provide a comprehensive review of usability testing of
eHealth interventions for HIV. Recent Findings We identified 28 articles that assessed the …
eHealth interventions for HIV. Recent Findings We identified 28 articles that assessed the …
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)
TR Webb, DA Parfitt, JC Gardner… - Human molecular …, 2012 - academic.oup.com
X-linked retinitis pigmentosa (XLRP) is genetically heterogeneous with two causative genes
identified, RPGR and RP2. We previously mapped a locus for a severe form of XLRP, RP23 …
identified, RPGR and RP2. We previously mapped a locus for a severe form of XLRP, RP23 …
Bone mineral density in sclerosteosis; affected individuals and gene carriers
JC Gardner, RL van Bezooijen, B Mervis… - The Journal of …, 2005 - academic.oup.com
Background: Sclerosteosis is an autosomal recessive sclerosing bone disorder due to
deficiency of sclerostin, a protein secreted by the osteocytes that inhibits bone formation. In …
deficiency of sclerostin, a protein secreted by the osteocytes that inhibits bone formation. In …
[PDF][PDF] Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK
E Reichenberger, V Tiziani, S Watanabe, L Park… - The American Journal of …, 2001 - cell.com
Craniometaphyseal dysplasia (CMD) is a rare skeletal disorder characterized by
progressive thickening and increased mineral density of craniofacial bones and abnormally …
progressive thickening and increased mineral density of craniofacial bones and abnormally …
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy
Human X-linked blue-cone monochromacy (BCM), a disabling congenital visual disorder of
cone photoreceptors, is a candidate disease for gene augmentation therapy. BCM is caused …
cone photoreceptors, is a candidate disease for gene augmentation therapy. BCM is caused …
Characterization of the nitrosyl adduct of substrate-bound mouse cysteine dioxygenase by electron paramagnetic resonance: electronic structure of the active site and …
Mammalian cysteine dioxygenase (CDO) is a non-heme iron metalloenzyme that catalyzes
the first committed step in oxidative cysteine catabolism. The active site coordination of CDO …
the first committed step in oxidative cysteine catabolism. The active site coordination of CDO …
[HTML][HTML] The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic
Purpose.: To evaluate retinal structure and photoreceptor mosaic integrity in subjects with
OPN1LW and OPN1MW mutations. Methods.: Eleven subjects were recruited, eight of whom …
OPN1LW and OPN1MW mutations. Methods.: Eleven subjects were recruited, eight of whom …