Search Results - "Brookes, Steven J."

Amelogenesis Imperfecta; Genes, Proteins, and Pathways by Smith, Claire E L, Poulter, James A, Antanaviciute, Agne, Kirkham, Jennifer, Brookes, Steven J, Inglehearn, Chris F, Mighell, Alan J

“…Amelogenesis imperfecta (AI) is the name given to a heterogeneous group of conditions characterized by inherited developmental enamel defects. AI enamel is…”
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Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta by Parry, David A., Poulter, James A., Logan, Clare V., Brookes, Steven J., Jafri, Hussain, Ferguson, Christopher H., Anwari, Babra M., Rashid, Yasmin, Zhao, Haiqing, Johnson, Colin A., Inglehearn, Chris F., Mighell, Alan J.

“…A combination of autozygosity mapping and exome sequencing identified a null mutation in SLC24A4 in a family with hypomineralized amelogenesis imperfect a…”
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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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Preparative SDS PAGE as an Alternative to His-Tag Purification of Recombinant Amelogenin by Gabe, Claire M, Brookes, Steven J, Kirkham, Jennifer

“…Recombinant protein technology provides an invaluable source of proteins for use in structure-function studies, as immunogens, and in the development of…”
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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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The Unfolded Protein Response in Amelogenesis and Enamel Pathologies by Brookes, Steven J, Barron, Martin J, Dixon, Michael J, Kirkham, Jennifer

“…During the secretory phase of their life-cycle, ameloblasts are highly specialized secretory cells whose role is to elaborate an extracellular matrix that…”
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Adaptor protein complex 2–mediated, clathrin‐dependent endocytosis, and related gene activities, are a prominent feature during maturation stage amelogenesis by Lacruz, Rodrigo S, Brookes, Steven J, Wen, Xin, Jimenez, Jaime M, Vikman, Susanna, Hu, Ping, White, Shane N, Lyngstadaas, S Petter, Okamoto, Curtis T, Smith, Charles E, Paine, Michael L

“…Molecular events defining enamel matrix removal during amelogenesis are poorly understood. Early reports have suggested that adaptor proteins (AP) participate…”
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Editorial: Tooth Enamel: Frontiers in Mineral Chemistry and Biochemistry, Integrative Cell Biology and Genetics by Brookes, Steven J, Berdal, Ariane, Vieira, Alexandre R, Babajko, Sylvie, Kirkham, Jennifer

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Enamel Research: Priorities and Future Directions by Kirkham, Jennifer, Brookes, Steven J, Diekwisch, Thomas G H, Margolis, Henry C, Berdal, Ariane, Hubbard, Michael J

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A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities by Smith, Claire E L, Kirkham, Jennifer, Day, Peter F, Soldani, Francesca, McDerra, Esther J, Poulter, James A, Inglehearn, Christopher F, Mighell, Alan J, Brookes, Steven J

“…"Amelogenesis imperfecta" (AI) describes a group of genetic conditions that result in defects in tooth enamel formation. Mutations in many genes are known to…”
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Ameloblastin expression and putative autoregulation in mesenchymal cells suggest a role in early bone formation and repair by Tamburstuen, Margareth V, Reseland, Janne E, Spahr, Axel, Brookes, Steven J, Kvalheim, Gunnar, Slaby, Ivan, Snead, Malcolm L, Lyngstadaas, S. Petter

“…Abstract Ameloblastin is mainly known as a dental enamel protein, synthesized and secreted into developing enamel matrix by the enamel-forming ameloblasts. The…”
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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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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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Is the 32-kDa fragment the functional enamelin unit in all species? by Brookes, Steven J., Kingswell, Nicola J., Barron, Martin J., Dixon, Michael J., Kirkham, Jennifer

“…Brookes SJ, Kingswell NJ, Barron MJ, Dixon MJ, Kirkham J. Is the 32‐kDa fragment the functional enamelin unit in all species? 
Eur J Oral Sci 2011; 119 (Suppl…”
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Determination of protein regions responsible for interactions of amelogenin with CD63 and LAMP1 by Zou, YanMing, Wang, HongJun, Shapiro, Jason L, Okamoto, Curtis T, Brookes, Steven J, Lyngstadaas, S Petter, Snead, Malcolm L, Paine, Michael L

“…The enamel matrix protein amelogenin is secreted by ameloblasts into the extracellular space to guide the formation of highly ordered hydroxyapatite mineral…”
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Subfractions of enamel matrix derivative differentially influence cytokine secretion from human oral fibroblasts by Villa, Oscar, Brookes, Steven J, Thiede, Bernd, Heijl, Lars, Lyngstadaas, Staale P, Reseland, Janne E

“…Enamel matrix derivative is used to promote periodontal regeneration during the corrective phase of the treatment of periodontal defects. Our main goal was to…”
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Enamel Defects Reflect Perinatal Exposure to Bisphenol A by Jedeon, Katia, De la Dure-Molla, Muriel, Brookes, Steven J, Loiodice, Sophia, Marciano, Clémence, Kirkham, Jennifer, Canivenc-Lavier, Marie-Chantal, Boudalia, Sofiane, Bergès, Raymond, Harada, Hidemitsu, Berdal, Ariane, Babajko, Sylvie

“…Endocrine-disrupting chemicals (EDCs), including bisphenol A (BPA), are environmental ubiquitous pollutants and associated with a growing health concern…”
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Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta by Poulter, James A, Murillo, Gina, Brookes, Steven J, Smith, Claire E L, Parry, David A, Silva, Sandra, Kirkham, Jennifer, Inglehearn, Chris F, Mighell, Alan J

“…Amelogenesis imperfecta (AI) describes a heterogeneous group of inherited dental enamel defects reflecting failure of normal amelogenesis. Ameloblastin (AMBN)…”
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Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta by Smith, Claire E L, Murillo, Gina, Brookes, Steven J, Poulter, James A, Silva, Sandra, Kirkham, Jennifer, Inglehearn, Chris F, Mighell, Alan J

“…Amelogenesis imperfecta (AI) is a heterogeneous group of genetic conditions that result in defective dental enamel formation. Amelotin (AMTN) is a secreted…”
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