Search Results - "Rutland, Paul"

Plant Secondary Metabolites with an Overview of Populus by Movahedi, Ali, Almasi Zadeh Yaghuti, Amir, Wei, Hui, Rutland, Paul, Sun, Weibo, Mousavi, Mohaddeseh, Li, Dawei, Zhuge, Qiang

“…Populus trees meet continuous difficulties from the environment through their life cycle. To warrant their durability and generation, Populus trees exhibit…”
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Screening of interleukin 17F gene polymorphisms and eight subgingival pathogens in chronic periodontitis in Libyan patients by Alsherif, Eshraq, Alhudiri, Inas, ElJilani, Mouna, Ramadan, Ahmad, Rutland, Paul, Elzagheid, Adam, Enattah, Nabil

“…Background: Chronic periodontitis (CP) is triggered by periodontal pathogens influenced by genetic and environmental factors. Recent studies have suggested…”
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Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome by Reardon, William, Winter, Robin M, Rutland, Paul, Pulleyn, Louise J, Jones, Barry M, Malcolm, Sue

“…Crouzon syndrome is an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis) and maps to chromosome 10q25-q26. We now…”
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A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome by Muenke, Maximilian, Schell, Ute, Hehr, Andreas, Robin, Nathaniel H, Losken, H. Wolfgang, Schinzel, Albert, Pulleyn, Louise J, Rutland, Paul, Reardon, William, Malcolm, Sue, Winter, Robin M

“…Pfeiffer syndrome (PS) is one of the classic autosomal dominant craniosynostosis syndromes with craniofacial anomalies and characteristic broad thumbs and big…”
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Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes by Rutland, Paul, Pulleyn, Louise J, Reardon, William, Baraitser, Michael, Hayward, Richard, Jones, Barry, Malcolm, Sue, Winter, Robin M, Oldridge, Michael, Slaney, Sarah F, Poole, Michael D, Wilkie, Andrew O.M

“…Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in Crouzon syndrome, an autosomal dominant condition causing premature…”
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Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination by WOLF, Nicole I, CUNDALL, Maria, WOODWARD, Karen J, RUTLAND, Paul, ROSSER, Elisabeth, SURTEES, Robert, BENTON, Sarah, CHONG, Wui K, MALCOLM, Sue, EBINGER, Friedrich, BITNER-GLINDZICZ, Maria

“…Mutations in GJA12 have been shown to cause Pelizaeus-Merzbacher-like disease (PMLD). We present two additional patients from one family carrying a homozygous…”
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First report of Mycobacterium bovis DNA in human remains from the Iron Age by Taylor, G. Michael, Murphy, Eileen, Hopkins, Richard, Rutland, Paul, Chistov, Yuri

“…1 Centre for Molecular Microbiology and Infectious Diseases, Imperial College of Science, Technology and Medicine, London SW7 2AZ, UK 2 School of Geography,…”
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Mitochondrial m.1584A 12S m super(6) sub(2)A rRNA methylation in families with m.1555A>G associated hearing loss by O'Sullivan, Mary, Rutland, Paul, Lucas, Deirdre, Ashton, Emma, Hendricks, Sebastian, Rahman, Shamima, Bitner-Glindzicz, Maria

“…The mitochondrial DNA mutation m.1555A>G predisposes to hearing loss following aminoglycoside antibiotic exposure in an idiosyncratic dose-independent manner…”
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Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss by O'Sullivan, Mary, Rutland, Paul, Lucas, Deirdre, Ashton, Emma, Hendricks, Sebastian, Rahman, Shamima, Bitner-Glindzicz, Maria

“…The mitochondrial DNA mutation m.1555A>G predisposes to hearing loss following aminoglycoside antibiotic exposure in an idiosyncratic dose-independent manner…”
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Anatomy, histology, development and functions of Ossa cordis: A review by Best, Adam, Egerbacher, Monika, Swaine, Sophia, Pérez, William, Alibhai, Aziza, Rutland, Paul, Kubale, Valentina, El‐Gendy, Samir A. A., Alsafy, Mohamed A. M., Baiker, Kerstin, Sturrock, Craig J., Rutland, Catrin Sian

“…This systematic review highlights the similarities and variations in Ossa cordis prevalence, histology and anatomical location between differing veterinary…”
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Genomic Insights into Cardiomyopathies: A Comparative Cross-Species Review by Simpson, Siobhan, Rutland, Paul, Rutland, Catrin Sian

“…In the global human population, the leading cause of non-communicable death is cardiovascular disease. It is predicted that by 2030, deaths attributable to…”
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FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy by Fassone, Elisa, Duncan, Andrew J, Taanman, Jan-Willem, Pagnamenta, Alistair T, Sadowski, Michael I, Holand, Tatjana, Qasim, Waseem, Rutland, Paul, Calvo, Sarah E, Mootha, Vamsi K, Bitner-Glindzicz, Maria, Rahman, Shamima

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Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein by Scambler, Peter J, McGregor, Lesley, Makela, Ville, Darling, Susan M, Vrontou, Sofia, Chalepakis, Georges, Roberts, Catherine, Smart, Nicola, Rutland, Paul, Prescott, Natalie, Hopkins, Jason, Bentley, Elizabeth, Shaw, Alison, Roberts, Emma, Mueller, Robert, Jadeja, Shalini, Philip, Nicole, Nelson, John, Francannet, Christine, Perez-Aytes, Antonio, Megarbane, Andre, Kerr, Bronwyn, Wainwright, Brandon, Woolf, Adrian S, Winter, Robin M

“…Fraser syndrome (OMIM 219000) is a multisystem malformation usually comprising cryptophthalmos, syndactyly and renal defects. Here we report autozygosity…”
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Mycobacterium leprae genotype amplified from an archaeological case of lepromatous leprosy in Central Asia by Taylor, G. Michael, Blau, Soren, Mays, Simon, Monot, Marc, Lee, Oona Y.-C., Minnikin, David E., Besra, Gurdyal S., Cole, Stewart T., Rutland, Paul

“…We have amplified Mycobacterium leprae DNA from the skeleton of an adult human female exhibiting signs of lepromatous leprosy (LL). The remains were excavated…”
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FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy by Fassone, Elisa, Duncan, Andrew J., Taanman, Jan-Willem, Pagnamenta, Alistair T., Sadowski, Michael I., Holand, Tatjana, Qasim, Waseem, Rutland, Paul, Calvo, Sarah E., Mootha, Vamsi K., Bitner-Glindzicz, Maria, Rahman, Shamima

“…Complex I is the first and largest enzyme in the respiratory chain and is located in the inner mitochondrial membrane. Complex I deficiency is the most…”
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A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene by Bitner-Glindzicz, Maria, Glaser, Benjamin, Lindley, Keith J, Rutland, Paul, Blaydon, Diana, Smith, Virpi V, Milla, Peter J, Hussain, Khalid, Furth-Lavi, Judith, Cosgrove, Karen E, Shepherd, Ruth M, Barnes, Philippa D, O'Brien, Rachel E, Farndon, Peter A, Sowden, Jane, Liu, Xue-Zhong, Scanlan, Matthew J, Malcolm, Sue, Dunne, Mark J, Aynsley-Green, Albert

“…Usher syndrome type 1 describes the association of profound, congenital sensorineural deafness, vestibular hypofunction and childhood onset retinitis…”
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Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome by Wilkie, Andrew O.M, Slaney, Sarah F, Oldridge, Michael, Poole, Michael D, Ashworth, Geraldine J, Hockley, Anthony D, Hayward, Richard D, David, David J, Pulleyn, Louise J, Rutland, Paul, Malcolm, Susan, Winter, Robin M, Reardon, William

“…Apert syndrome is a distinctive human malformation comprising craniosynostosis and severe syndactyly of the hands and feet. We have identified specific…”
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A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes by Idrees, Faisal, Bloch-Zupan, Agnes, Free, Samantha L., Vaideanu, Daniela, Thompson, Pamela J., Ashley, Paul, Brice, Glen, Rutland, Paul, Bitner-Glindzicz, Maria, Khaw, Peng T., Fraser, Scott, Sisodiya, Sanjay M., Sowden, Jane C.

“…Axenfeld‐Rieger Syndrome (ARS) is a genetically heterogeneous birth defect characterized by malformation of the anterior segment of the eye associated with…”
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First report of Mycobacterium bovis DNA in human remains from the iron Age by TAYLOR, G. Michael, MURPHY, Eileen, HOPKINS, Richard, RUTLAND, Paul, CHISTOV, Yuri

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Kantaputra mesomelic dysplasia: A second reported family by Shears, Deborah J., Offiah, Amaka, Rutland, Paul, Sirimanna, Tony, Bitner-Glindzicz, Maria, Hall, Christine

“…We present the clinical and radiographic findings in a mother and son with a dominantly inherited mesomelic skeletal dysplasia almost identical to that…”
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