Search Results - "Shore, Roger"

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta by Parry, David A., Smith, Claire E.L., El-Sayed, Walid, Poulter, James A., Shore, Roger C., Logan, Clare V., Mogi, Chihiro, Sato, Koichi, Okajima, Fumikazu, Harada, Akihiro, Zhang, Hong, Koruyucu, Mine, Seymen, Figen, Hu, Jan C.-C., Simmer, James P., Ahmed, Mushtaq, Jafri, Hussain, Johnson, Colin A., Inglehearn, Chris F., Mighell, Alan J.

“…Amelogenesis is the process of dental enamel formation, leading to the deposition of the hardest tissue in the human body. This process requires the intricate…”
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Spectrum of PEX1 and PEX6 variants in Heimler syndrome by Smith, Claire E L, Poulter, James A, Levin, Alex V, Capasso, Jenina E, Price, Susan, Ben-Yosef, Tamar, Sharony, Reuven, Newman, William G, Shore, Roger C, Brookes, Steven J, Mighell, Alan J, Inglehearn, Chris F

“…Heimler syndrome (HS) consists of recessively inherited sensorineural hearing loss, amelogenesis imperfecta (AI) and nail abnormalities, with or without visual…”
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Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta by El-Sayed, Walid, Parry, David A., Shore, Roger C., Ahmed, Mushtaq, Jafri, Hussain, Rashid, Yasmin, Al-Bahlani, Suhaila, Al Harasi, Sharifa, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.

“…Healthy dental enamel is the hardest and most highly mineralized human tissue. Though acellular, nonvital, and without capacity for turnover or repair, it can…”
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Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta by Poulter, James A, El-Sayed, Walid, Shore, Roger C, Kirkham, Jennifer, Inglehearn, Chris F, Mighell, Alan J

“…The conventional approach to identifying the defective gene in a family with an inherited disease is to find the disease locus through family studies. However,…”
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Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta by Parry, David A., Brookes, Steven J., Logan, Clare V., Poulter, James A., El-Sayed, Walid, Al-Bahlani, Suhaila, Al Harasi, Sharifa, Sayed, Jihad, Raïf, El Mostafa, Shore, Roger C., Dashash, Mayssoon, Barron, Martin, Morgan, Joanne E., Carr, Ian M., Taylor, Graham R., Johnson, Colin A., Aldred, Michael J., Dixon, Michael J., Wright, J. Tim, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.

“…Autozygosity mapping and clonal sequencing of an Omani family identified mutations in the uncharacterized gene, C4orf26, as a cause of recessive…”
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Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta by Parry, David A., Mighell, Alan J., El-Sayed, Walid, Shore, Roger C., Jalili, Ismail K., Dollfus, Hélène, Bloch-Zupan, Agnes, Carlos, Roman, Carr, Ian M., Downey, Louise M., Blain, Katharine M., Mansfield, David C., Shahrabi, Mehdi, Heidari, Mansour, Aref, Parissa, Abbasi, Mohsen, Michaelides, Michel, Moore, Anthony T., Kirkham, Jennifer, Inglehearn, Chris F.

“…The combination of recessively inherited cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI) was first reported by Jalili and Smith in 1988 in a family…”
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A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta by Poulter, James A, Brookes, Steven J, Shore, Roger C, Smith, Claire E L, Abi Farraj, Layal, Kirkham, Jennifer, Inglehearn, Chris F, Mighell, Alan J

“…We identified a family in which pitted hypomineralized amelogenesis imperfecta (AI) with premature enamel failure segregated in an autosomal recessive fashion…”
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The cell adhesion molecule nectin-1 is critical for normal enamel formation in mice by Barron, Martin J., Brookes, Steven J., Draper, Clare E., Garrod, David, Kirkham, Jennifer, Shore, Roger C., Dixon, Michael J.

“…Nectin-1 is a member of a sub-family of immunoglobulin-like adhesion molecules and a component of adherens junctions. In the current study, we have shown that…”
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A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta by Barron, Martin J., Brookes, Steven J., Kirkham, Jennifer, Shore, Roger C., Hunt, Charlotte, Mironov, Aleksandr, Kingswell, Nicola J., Maycock, Joanne, Shuttleworth, C. Adrian, Dixon, Michael J.

“…Amelogenesis imperfecta (AI) describes a broad group of clinically and genetically heterogeneous inherited defects of dental enamel bio-mineralization. Despite…”
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2D mapping of texture and lattice parameters of dental enamel by Al-Jawad, Maisoon, Steuwer, Axel, Kilcoyne, Susan H, Shore, Roger C, Cywinski, Robert, Wood, David J

“…Abstract We have used synchrotron X-ray diffraction to study the texture and the change in lattice parameter as a function of position in a cross section of…”
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A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta by Poulter, James A., Brookes, Steven J., Shore, Roger C., Smith, Claire E. L., Abi Farraj, Layal, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.

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Cellular uptake and processing of enamel matrix derivative by human periodontal ligament fibroblasts by Lees, James D, Robinson, Colin, Shore, Roger C, Paine, Michael L, Brookes, Steven J

“…Abstract Objective Enamel matrix derivative (EMD), is an extract of porcine developing enamel matrix. Its commercialised form Emdogain, is claimed to stimulate…”
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A silicon cell cycle in a bacterial model of calcium phosphate mineralogenesis by Linton, Kathryn M., Tapping, Charles R., Adams, David G., CarterR, D. Howard, Shore, Roger C., Aaron, Jean E.

“…► A bacterium that calcifies with phosphate serves as a biomineralisation model. ► Advanced methods of substructural analysis show the intracellular loading…”
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Physico-chemical properties of crystal surfaces in matrix–mineral interactions during mammalian biomineralisation by Kirkham, Jennifer, Brookes, Steven J., Shore, Roger C., Wood, Simon R., Smith, D.Alastair, Zhang, Jin, Chen, Haifeng, Robinson, Colin

“…Surfaces of developing enamel crystals were shown to comprise of alternating domains of positive and less positive (perhaps even negative) charge density which…”
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Binding of Matrix Proteins to Developing Enamel Crystals: An Atomic Force Microscopy Study by Wallwork, Mark L, Kirkham, Jennifer, Zhang, Jin, Smith, D. Alastair, Brookes, Steven J, Shore, Roger C, Wood, Simon R, Ryu, Okhee, Robinson, Colin

“…The control of hydroxyapatite crystal initiation and growth during enamel development is thought to be mediated by the proteins of the extracellular matrix…”
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Intracellular nanosphere subunit assembly as revealed by amelogenin molecular cross-linking studies by Brookes, Steven J., Lyngstadaas, Staale Petter, Robinson, Colin, Shore, Roger C., Kirkham, Jennifer

“…Enamel matrix comprises nanospheres predominantly composed of amelogenin. Studies have shown that recombinant amelogenin forms nanospheres similar to those…”
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An in vitro study of the use of photodynamic therapy for the treatment of natural oral plaque biofilms formed in vivo by Wood, Simon, Nattress, Brian, Kirkham, Jennifer, Shore, Roger, Brookes, Steven, Griffiths, John, Robinson, Colin

“…Seven-day oral plaque biofilms have been formed on natural enamel surfaces in vivo using a previously reported in situ device. The devices are then incubated…”
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Evidence for direct amelogenin-target cell interactions using dynamic force spectroscopy by Kirkham, Jennifer, Andreev, Igor, Robinson, Colin, Brookes, Steven J., Shore, Roger C., Smith, D. Alastair

“…Increasing evidence suggests that amelogenin, long held to be a structural protein of developing enamel matrix, may also have cell signaling functions…”
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The developing enamel matrix: nature and function by Robinson, Colin, Brookes, Steven J., Shore, Roger C., Kirkham, Jennifer

“…The hydroxyapatite crystals of mature enamel are unusually large, uniform and regularly disposed within the tissue, implying that their development is a highly…”
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Deformation and failure of cartilage in the tensile mode by Sasazaki, Yoshihiro, Shore, Roger, Seedhom, Bahaa B.

“…The aim of this study was to visualize, at the ultrastructural level, the deformation and failure mechanism of cartilage matrix in the tensile mode…”
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