Search Results - "Taylor, Indira B"

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors by Pfeifer, Susanne P, Hansen, Ruth M S, Olesen, Inge A, Meyts, Ewa Rajpert-De, Wilkie, Andrew O M, Goriely, Anne, McGowan, Simon J, Taylor, Indira B, McVean, Gilean A T, Jacobsen, Grete Krag

“…Andrew Wilkie and colleagues report that activating paternal-effect mutations in FGFR3 and HRAS promote clonal expansion in the testis, leading to…”
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Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline by Giannoulatou, Eleni, McVean, Gilean, Taylor, Indira B., McGowan, Simon J., Maher, Geoffrey J., Iqbal, Zamin, Pfeifer, Susanne P., Turner, Isaac, Wright, Emma M. M. Burkitt, Shorto, Jennifer, Itani, Aysha, Turner, Karen, Gregory, Lorna, Buck, David, Meyts, Ewa Rajpert-De, Looijenga, Leendert H. J., Kerr, Bronwyn, Wilkie, Andrew O. M., Goriely, Anne

“…The RAS proto-oncogene Harvey rat sarcoma viral oncogene homolog (HRAS) encodes a small GTPase that transduces signals from cell surface receptors to…”
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A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis by Schwerd, Tobias, Twigg, Stephen R F, Aschenbrenner, Dominik, Manrique, Santiago, Miller, Kerry A, Taylor, Indira B, Capitani, Melania, McGowan, Simon J, Sweeney, Elizabeth, Weber, Astrid, Chen, Liye, Bowness, Paul, Riordan, Andrew, Cant, Andrew, Freeman, Alexandra F, Milner, Joshua D, Holland, Steven M, Frede, Natalie, Müller, Miryam, Schmidt-Arras, Dirk, Grimbacher, Bodo, Wall, Steven A, Jones, E Yvonne, Wilkie, Andrew O M, Uhlig, Holm H

“…Multiple cytokines, including interleukin 6 (IL-6), IL-11, IL-27, oncostatin M (OSM), and leukemia inhibitory factor (LIF), signal via the common GP130…”
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Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis by RANNAN-ELIYA, Sahan V, TAYLOR, Indira B, DE HEER, I. Marieke, VAN DEN OUWELAND, Ans M. W, WALL, Steven A, WILKIE, Andrew O. M

“…Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G,…”
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A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb by Furniss, Dominic, Lettice, Laura A., Taylor, Indira B., Critchley, Paul S., Giele, Henk, Hill, Robert E., Wilkie, Andrew O.M.

“…A locus for triphalangeal thumb, variably associated with pre-axial polydactyly, was previously identified in the zone of polarizing activity regulatory…”
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Clinical dividends from the molecular genetic diagnosis of craniosynostosis by Wilkie, Andrew O.M., Bochukova, Elena G., Hansen, Ruth M. S., Taylor, Indira B., Rannan-Eliya, Sahan V., Byren, Jo C., Wall, Steven A., Ramos, Lina, Venâncio, Margarida, Hurst, Jane A., O'Rourke, Anthony W., Williams, Louise J., Seller, Anneke, Lester, Tracy

“…A dozen years have passed since the first genetic lesion was identified in a family with craniosynostosis, the premature fusion of the cranial sutures…”
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Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily by Bochukova, Elena G, Roscioli, Tony, Hedges, Dale J, Taylor, Indira B, Johnson, David, David, David J, Deininger, Prescott L, Wilkie, Andrew O.M

“…Apert syndrome (AS) is a severe disorder, characterized by craniosynostosis and complex syndactyly of the hands and feet. Two heterozygous gain-of-function…”
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The Fibroblast Growth Factor Receptor 2 p.Ala172Phe Mutation in Pfeiffer Syndrome-History Repeating Itself by Jay, Sally, Wiberg, Akira, Swan, Marc, Lester, Tracy, Williams, Louise J., Taylor, Indira B., Johnson, David, Wilkie, Andrew O.M.

“…Pfeiffer syndrome is an autosomal dominant condition classically combining craniosynostosis with digital anomalies of the hands and feet. The majority of cases…”
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The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males by Twigg, Stephen R.F., Matsumoto, Kazuya, Kidd, Alexa M.J., Goriely, Anne, Taylor, Indira B., Fisher, Richard B., Hoogeboom, A. Jeannette M., Mathijssen, Irene M.J., Lourenço, M. Teresa, Morton, Jenny E.V., Sweeney, Elizabeth, Wilson, Louise C., Brunner, Han G., Mulliken, John B., Wall, Steven A., Wilkie, Andrew O.M.

“…Craniofrontonasal syndrome (CFNS) is an X-linked disorder that exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have…”
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Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2 : from genotype to phenotype by MAVROGIANNIS, Lampros A, TAYLOR, Indira B, DAVIES, Sally J, RAMOS, Feliciano J, OLIVARES, José L, WILKIE, Andrew O. M

“…Heterozygous mutations of the homeobox genes ALX4 and MSX2 cause skull defects termed enlarged parietal foramina (PFM) and cranium bifidum (CB); a single MSX2…”
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Clinical dividends from the molecular genetic diagnosis of craniosynostosis by Wilkie, Andrew O.M., Bochukova, Elena G., Hansen, Ruth M. S., Taylor, Indira B., Rannan-Eliya, Sahan V., Byren, Jo C., Wall, Steven A., Ramos, Lina, Venâncio, Margarida, Hurst, Jane A., O'Rourke, Anthony W., Williams, Louise J., Seller, Anneke, Lester, Tracy

“…A dozen years have passed since the first genetic lesion was identified in a family with craniosynostosis, the premature fusion of the cranial sutures…”
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Contrasting the Genetic Architecture of 30 Complex Traits from Summary Association Data by Shi, Huwenbo, Kichaev, Gleb, Pasaniuc, Bogdan

“…Variance-component methods that estimate the aggregate contribution of large sets of variants to the heritability of complex traits have yielded important…”
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The Fibroblast Growth Factor Receptor 2 p. A la172 P he Mutation in Pfeiffer Syndrome— H istory Repeating Itself by Jay, Sally, Wiberg, Akira, Swan, Marc, Lester, Tracy, Williams, Louise J., Taylor, Indira B., Johnson, David, Wilkie, Andrew O.M.

“…Abstract Pfeiffer syndrome is an autosomal dominant condition classically combining craniosynostosis with digital anomalies of the hands and feet. The majority…”
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Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery by Furniss, D, Kan, S-H, Taylor, I B, Johnson, D, Critchley, P S, Giele, H P, Wilkie, A O M

“…Congenital limb malformations (CLMs) are common and present to a variety of specialties, notably plastic and orthopaedic surgeons, and clinical geneticists…”
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A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome by DE RAVEL, Thomy J. L, TAYLOR, Indira B, VAN OOSTVELDT, Alex J. T, FRYNS, Jean-Pierre, WILKIE, Andrew O. M

“…We report a family heterozygous for a newly identified mutation in the tyrosine kinase I domain of the FGFR2 gene (1576A > G, encoding the missense…”
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