Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Ajoy Sarkar"'
Autor:
Eva-Lena Stattin, Karin Lindblom, André Struglics, Patrik Önnerfjord, Jack Goldblatt, Abhijit Dixit, Ajoy Sarkar, Tabitha Randell, Mohnish Suri, Cathleen Raggio, Jessica Davis, Erin Carter, Anders Aspberg
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
Abstract The cartilage aggrecan proteoglycan is crucial for both skeletal growth and articular cartilage function. A number of aggrecan (ACAN) gene variants have been linked to skeletal disorders, ranging from short stature to severe chondrodyplasias
Externí odkaz:
https://doaj.org/article/1eb5bb77dab24e68b92ae2ffddd75753
Publikováno v:
BMC Ophthalmology, Vol 19, Iss 1, Pp 1-3 (2019)
Abstract Background It has been previously reported that one copy of the variable number tandem repeat (VNTR) B alleles of the GPIbα gene increases the risk of non-arteritic ischaemic optic neuropathy (NAION) and the second eye involvement. This is
Externí odkaz:
https://doaj.org/article/7bce212eb22a4cb7bc299cdf71d5eb82
Autor:
Richard Holt, David Goudie, Alejandra Damián Verde, Alice Gardham, Francis Ramond, Audrey Putoux, Ajoy Sarkar, Virginia Clowes, Jill Clayton-Smith, Siddharth Banka, Laura Cortazar Galarza, Gilles Thuret, Marta Ubeda Erviti, Ane Zurutuza Ibarguren, Raquel Sáez Villaverde, Alejandra Tamayo Durán, Carmen Ayuso, Dorine A Bax, Julie Plaisancie, Marta Corton, Nicolas Chassaing, Patrick Calvas, Nicola K Ragge
Publikováno v:
Ophthalmic Genetics. 43:809-816
Autor:
Samiran Ghosh, Debjit Ghosh, Koyel Samanta, Saptarsi Goswami, Subhrojyoti Bhowmick, Sujit KarPurkayastha, Ajoy Sarkar, Amlan Chakrabarti
Publikováno v:
Data Management, Analytics and Innovation ISBN: 9789811925993
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5b4c2a82c425acfa47914b8bd9d95d7b
https://doi.org/10.1007/978-981-19-2600-6_49
https://doi.org/10.1007/978-981-19-2600-6_49
Autor:
Stuart Aitken, Helen V. Firth, Jeremy McRae, Mihail Halachev, Usha Kini, Michael J. Parker, Melissa M. Lees, Katherine Lachlan, Ajoy Sarkar, Shelagh Joss, Miranda Splitt, Shane McKee, Andrea H. Németh, Richard H. Scott, Caroline F. Wright, Joseph A. Marsh, Matthew E. Hurles, David R. FitzPatrick, T.W. Fitzgerald, S.S. Gerety, W.D. Jones, M. van Kogelenberg, D.A. King, J. McRae, K.I. Morley, V. Parthiban, S. Al-Turki, K. Ambridge, D.M. Barrett, T. Bayzetinova, S. Clayton, E.L. Coomber, S. Gribble, P. Jones, N. Krishnappa, L.E. Mason, A. Middleton, R. Miller, E. Prigmore, D. Rajan, A. Sifrim, A.R. Tivey, M. Ahmed, N. Akawi, R. Andrews, U. Anjum, H. Archer, R. Armstrong, M. Balasubramanian, R. Banerjee, D. Barelle, P. Batstone, D. Baty, C. Bennett, J. Berg, B. Bernhard, A.P. Bevan, E. Blair, M. Blyth, D. Bohanna, L. Bourdon, D. Bourn, A. Brady, E. Bragin, C. Brewer, L. Brueton, K. Brunstrom, S.J. Bumpstead, D.J. Bunyan, J. Burn, J. Burton, N. Canham, B. Castle, K. Chandler, S. Clasper, J. Clayton-Smith, T. Cole, A. Collins, M.N. Collinson, F. Connell, N. Cooper, H. Cox, L. Cresswell, G. Cross, Y. Crow, P.M. D’Alessandro, T. Dabir, R. Davidson, S. Davies, J. Dean, C. Deshpande, G. Devlin, A. Dixit, A. Dominiczak, C. Donnelly, D. Donnelly, A. Douglas, A. Duncan, J. Eason, S. Edkins, S. Ellard, P. Ellis, F. Elmslie, K. Evans, S. Everest, T. Fendick, R. Fisher, F. Flinter, N. Foulds, A. Fryer, B. Fu, C. Gardiner, L. Gaunt, N. Ghali, R. Gibbons, S.L. Gomes Pereira, J. Goodship, D. Goudie, E. Gray, P. Greene, L. Greenhalgh, L. Harrison, R. Hawkins, S. Hellens, A. Henderson, E. Hobson, S. Holden, S. Holder, G. Hollingsworth, T. Homfray, M. Humphreys, J. Hurst, S. Ingram, M. Irving, J. Jarvis, L. Jenkins, D. Johnson, D. Jones, E. Jones, D. Josifova, S. Joss, B. Kaemba, S. Kazembe, B. Kerr, U. Kini, E. Kinning, G. Kirby, C. Kirk, E. Kivuva, A. Kraus, D. Kumar, K. Lachlan, W. Lam, A. Lampe, C. Langman, M. Lees, D. Lim, G. Lowther, S.A. Lynch, A. Magee, E. Maher, S. Mansour, K. Marks, K. Martin, U. Maye, E. McCann, V. McConnell, M. McEntagart, R. McGowan, K. McKay, S. McKee, D.J. McMullan, S. McNerlan, S. Mehta, K. Metcalfe, E. Miles, S. Mohammed, T. Montgomery, D. Moore, S. Morgan, A. Morris, J. Morton, H. Mugalaasi, V. Murday, L. Nevitt, R. Newbury-Ecob, A. Norman, R. O’Shea, C. Ogilvie, S. Park, M.J. Parker, C. Patel, J. Paterson, S. Payne, J. Phipps, D.T. Pilz, D. Porteous, N. Pratt, K. Prescott, S. Price, A. Pridham, A. Proctor, H. Purnell, N. Ragge, J. Rankin, L. Raymond, D. Rice, L. Robert, E. Roberts, G. Roberts, J. Roberts, P. Roberts, A. Ross, E. Rosser, A. Saggar, S. Samant, R. Sandford, A. Sarkar, S. Schweiger, C. Scott, R. Scott, A. Selby, A. Seller, C. Sequeira, N. Shannon, S. Sharif, C. Shaw-Smith, E. Shearing, D. Shears, I. Simonic, D. Simpkin, R. Singzon, Z. Skitt, A. Smith, B. Smith, K. Smith, S. Smithson, L. Sneddon, M. Splitt, M. Squires, F. Stewart, H. Stewart, M. Suri, V. Sutton, G.J. Swaminathan, E. Sweeney, K. Tatton-Brown, C. Taylor, R. Taylor, M. Tein, I.K. Temple, J. Thomson, J. Tolmie, A. Torokwa, B. Treacy, C. Turner, P. Turnpenny, C. Tysoe, A. Vandersteen, P. Vasudevan, J. Vogt, E. Wakeling, D. Walker, J. Waters, A. Weber, D. Wellesley, M. Whiteford, S. Widaa, S. Wilcox, D. Williams, N. Williams, G. Woods, C. Wragg, M. Wright, F. Yang, M. Yau, N.P. Carter, M. Parker, H.V. Firth, D.R. FitzPatrick, C.F. Wright, J.C. Barrett, M.E. Hurles
Publikováno v:
American Journal of Human Genetics
Aitken, J, Firth, H V, McRae, J, Halachev, M, Kini, U, Parker, M J, Lees, M M, Lachlan, K, Sarkar, A, Joss, S, Splitt, M, McKee, S, Németh, A H, Scott, R H, Wright, C F, Marsh, J, Hurles, M E, FitzPatrick, D 2019, ' Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.09.015
Aitken, J, Firth, H V, McRae, J, Halachev, M, Kini, U, Parker, M J, Lees, M M, Lachlan, K, Sarkar, A, Joss, S, Splitt, M, McKee, S, Németh, A H, Scott, R H, Wright, C F, Marsh, J, Hurles, M E, FitzPatrick, D 2019, ' Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.09.015
Trio-based whole-exome sequence (WES) data have established confident genetic diagnoses in ∼40% of previously undiagnosed individuals recruited to the Deciphering Developmental Disorders (DDD) study. Here we aim to use the breadth of phenotypic inf
Autor:
Marcie A. Steeves, Marjorlaine Willems, Siddharth Banka, Yline Capri, Michael J. Parker, Stephanie Greville-Heygate, Emma Clement, David Goudie, Vincent Cantagrel, Diana Rodriguez, Marlène Rio, Matthew Guille, Htoo A Wai, Anne Debant, Ajoy Sarkar, Fleur Vansenne, Frédéric Tran Mau-Them, Peter D Turnpenny, Audrey Putoux, Christine Fagotto-Kaufmann, Karine Siquier-Pernet, Bert B.A. de Vries, Boris Keren, Maxime Bonnet, Lydie Burglen, Sébastien Moutton, Marion Gérard, Susanne Schmidt, Diana Baralle, Sónia Barbosa, Benjamin Cogné, Damien Laouteouet, Amélie Piton, Helen Cox, Rebecca Mawby, Marie Vincent, Annie Godwin, Andrey V. Kajava, Sarju G. Mehta, Alexander J. M. Dingemans, Jozef Hertecant, Jayne Y. Hehir-Kwa, Gaetan Lesca
Publikováno v:
C4RCD Research Group 2020, ' Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2020.01.018
American Journal of Human Genetics, 106(3), 338-355. CELL PRESS
American Journal of Human Genetics, 106, 338-355
Barbosa, S, Greville-Heygate, S, Bonnet, M, Godwin, A L, Fagotto-Kaufmann, C, Kajava, A V, Laouteouet, D, Mawby, R, Wai, H A, Dingemans, A, De Vries, B, Willems, M, Capri, Y, Mehta, S G, Cox, H, Goudie, D, Vansenne, F, Turnpenny, P, Vincent, M, Lesca, G, Hertecant, J, Rodriguez, D, Marion, G, Putoux, A, Ramsey, K, Cantagrel, V, Banka, S, Sarkar, A, Steeves, M, Parker, M, Clement, E, Moutton, S, Tran-Mau-Them, F, Piton, A, Guille, M, Debant, A, Schmidt, S & Baralle, D 2020, ' Opposite modulation of RAC1 by mutations in TRIO is associated with distinct, domain specific neurodevelopmental disorders ', American Journal of Human Genetics, vol. 106, no. 3, pp. 338-355 . https://doi.org/10.1016/j.ajhg.2020.01.018
American Journal of Human Genetics, 106, 3, pp. 338-355
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106 (3), pp.338-355. ⟨10.1016/j.ajhg.2020.01.018⟩
American Journal of Human Genetics, 106(3), 338-355. CELL PRESS
American Journal of Human Genetics, 106, 338-355
Barbosa, S, Greville-Heygate, S, Bonnet, M, Godwin, A L, Fagotto-Kaufmann, C, Kajava, A V, Laouteouet, D, Mawby, R, Wai, H A, Dingemans, A, De Vries, B, Willems, M, Capri, Y, Mehta, S G, Cox, H, Goudie, D, Vansenne, F, Turnpenny, P, Vincent, M, Lesca, G, Hertecant, J, Rodriguez, D, Marion, G, Putoux, A, Ramsey, K, Cantagrel, V, Banka, S, Sarkar, A, Steeves, M, Parker, M, Clement, E, Moutton, S, Tran-Mau-Them, F, Piton, A, Guille, M, Debant, A, Schmidt, S & Baralle, D 2020, ' Opposite modulation of RAC1 by mutations in TRIO is associated with distinct, domain specific neurodevelopmental disorders ', American Journal of Human Genetics, vol. 106, no. 3, pp. 338-355 . https://doi.org/10.1016/j.ajhg.2020.01.018
American Journal of Human Genetics, 106, 3, pp. 338-355
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106 (3), pp.338-355. ⟨10.1016/j.ajhg.2020.01.018⟩
The Rho-guanine nucleotide exchange factor (RhoGEF) TRIO acts as a key regulator of neuronal migration, axonal outgrowth, axon guidance, and synaptogenesis by activating the GTPase RAC1 and modulating actin cytoskeleton remodeling. Pathogenic variant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e6feb0d914090bef0d0a94f376bcc6f
https://eprints.soton.ac.uk/438435/
https://eprints.soton.ac.uk/438435/
Autor:
Ceris I, Owen, Ramsay, Bowden, Michael J, Parker, Jo, Patterson, Joan, Patterson, Sue, Price, Ajoy, Sarkar, Bruce, Castle, Charulatha, Deshpande, Miranda, Splitt, Neeti, Ghali, John, Dean, Andrew J, Green, Charlene, Crosby, Katrina, Tatton-Brown
Publikováno v:
American Journal of Medical Genetics Part A. 176:1108-1114
Variants in the Protein Kinase CK2 alpha subunit, encoding the CSNK2A1 gene, have previously been reported in children with an intellectual disability and dysmorphic facial features syndrome: now termed the Okur-Chung neurodevelopmental syndrome. Mor
Publikováno v:
Clothing and Textiles Research Journal. 35:290-306
Postpartum women who wish to engage in physical activity and breastfeed their children are at greater risk for breast soreness due to increased breast volume and sensitivity associated with breastfeeding. An apparel product that supports both good br
Publikováno v:
Ophthalmic Genetics. 38:580-583
Karyotype has been a standard test for many decades in the context of multiple fetal or neonatal anomalies. This technique, however, has limited resolution, and deletions or duplications smaller th...
Autor:
AK Lampe, Jamie Cruden, Peter D. Turnpenny, Joseph D. Symonds, J. S. Tan, Anita M. Devlin, Shelagh Joss, Suresh Somarathi, Tara Montgomery, Melissa Lees, Jelena Pozojevic, Ailsa McLellan, Nataliya DiDonato, Vivek Mundada, Lesley Nairn, Alan Donaldson, Ajoy Sarkar, Jens Schallner, David R. FitzPatrick, Frank J. Kaiser, Kay Metcalfe, William P Whitehouse, Ilaria Parenti, Sameer M. Zuberi
Publikováno v:
Symonds, J D, Joss, S, Metcalfe, K A, Somarathi, S, Cruden, J, Devlin, A M, Donaldson, A, DiDonato, N, Fitzpatrick, D, Kaiser, F J, Lampe, A K, Lees, M M, McLellan, A, Montgomery, T, Mundada, V, Nairn, L, Sarkar, A, Schallner, J, Pozojevic, J, Parenti, I, Tan, J, Turnpenny, P & Whitehouse, W P & Zuberi, S M 2017, ' Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females : Detailed phenotyping of 10 new cases ', Epilepsia, vol. 58, no. 4, pp. 565-575 . https://doi.org/10.1111/epi.13669
Objective:\ud \ud The phenotype of seizure clustering with febrile illnesses in infancy/early childhood is well recognized. To date the only genetic epilepsy consistently associated with this phenotype is PCDH19, an X-linked disorder restricted to fe