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Akademický článek

Clinical Relapses of Atypical HUS on Eculizumab: Clinical Gap for Monitoring and Individualised Therapy

Autor: Chia Wei Teoh, Kathleen Mary Gorman, Bryan Lynch, Timothy H. J. Goodship, Niamh Marie Dolan, Mary Waldron, Michael Riordan, Atif Awan

Publikováno v: Case Reports in Nephrology, Vol 2018 (2018)

Atypical hemolytic uremic syndrome (aHUS) is caused by dysregulation of the complement system. A humanised anti-C5 monoclonal antibody (eculizumab) is available for the treatment of aHUS. We present the first description of atypical HUS in a child wi

Externí odkaz: https://doaj.org/article/b5d21626363143288dbe2b90b33ed63c

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Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

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

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8438162f307fa6cb5836ae7a28494148
https://doi.org/10.1016/j.ajhg.2019.09.015

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Akademický článek

Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32.

Autor: Lucy V Holmes, Lisa Strain, Scott J Staniforth, Iain Moore, Kevin Marchbank, David Kavanagh, Judith A Goodship, Heather J Cordell, Timothy H J Goodship

Publikováno v: PLoS ONE, Vol 8, Iss 4, p e60352 (2013)

In this study we have used multiplex ligation-dependent probe amplification (MLPA) to measure the copy number of CFHR3 and CFHR1 in DNA samples from 238 individuals from the UK and 439 individuals from the HGDP-CEPH Human Genome Diversity Cell Line P

Externí odkaz: https://doaj.org/article/45fddd3854a24209a2d0d5bdf4d7bee5

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Akademický článek

Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility.

Autor: Jian Zhao, Hui Wu, Melanie Khosravi, Huijuan Cui, Xiaoxia Qian, Jennifer A Kelly, Kenneth M Kaufman, Carl D Langefeld, Adrienne H Williams, Mary E Comeau, Julie T Ziegler, Miranda C Marion, Adam Adler, Stuart B Glenn, Marta E Alarcón-Riquelme, BIOLUPUS Network, GENLES Network, Bernardo A Pons-Estel, John B Harley, Sang-Cheol Bae, So-Young Bang, Soo-Kyung Cho, Chaim O Jacob, Timothy J Vyse, Timothy B Niewold, Patrick M Gaffney, Kathy L Moser, Robert P Kimberly, Jeffrey C Edberg, Elizabeth E Brown, Graciela S Alarcon, Michelle A Petri, Rosalind Ramsey-Goldman, Luis M Vilá, John D Reveille, Judith A James, Gary S Gilkeson, Diane L Kamen, Barry I Freedman, Juan-Manuel Anaya, Joan T Merrill, Lindsey A Criswell, R Hal Scofield, Anne M Stevens, Joel M Guthridge, Deh-Ming Chang, Yeong Wook Song, Ji Ah Park, Eun Young Lee, Susan A Boackle, Jennifer M Grossman, Bevra H Hahn, Timothy H J Goodship, Rita M Cantor, Chack-Yung Yu, Nan Shen, Betty P Tsao

Publikováno v: PLoS Genetics, Vol 7, Iss 5, p e1002079 (2011)

Systemic lupus erythematosus (SLE), a complex polygenic autoimmune disease, is associated with increased complement activation. Variants of genes encoding complement regulator factor H (CFH) and five CFH-related proteins (CFHR1-CFHR5) within the chro

Externí odkaz: https://doaj.org/article/714680860d754c02ba45e9b2d825dcfd

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Akademický článek

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.

Autor: Peter F Zipfel, Matthew Edey, Stefan Heinen, Mihály Józsi, Heiko Richter, Joachim Misselwitz, Bernd Hoppe, Danny Routledge, Lisa Strain, Anne E Hughes, Judith A Goodship, Christoph Licht, Timothy H J Goodship, Christine Skerka

Publikováno v: PLoS Genetics, Vol 3, Iss 3, p e41 (2007)

Atypical hemolytic uremic syndrome (aHUS) is associated with defective complement regulation. Disease-associated mutations have been described in the genes encoding the complement regulators complement factor H, membrane cofactor protein, factor B, a

Externí odkaz: https://doaj.org/article/5dbab60a997e4d30ae0bf040891b6ada

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Akademický článek

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

Autor: Julian P Venables, Lisa Strain, Danny Routledge, David Bourn, Helen M Powell, Paul Warwicker, Martha L Diaz-Torres, Anne Sampson, Paul Mead, Michelle Webb, Yves Pirson, Michael S Jackson, Anne Hughes, Katrina M Wood, Judith A Goodship, Timothy H J Goodship

Publikováno v: PLoS Medicine, Vol 3, Iss 10, p e431 (2006)

BACKGROUND: Sequence analysis of the regulators of complement activation (RCA) cluster of genes at chromosome position 1q32 shows evidence of several large genomic duplications. These duplications have resulted in a high degree of sequence identity b

Externí odkaz: https://doaj.org/article/209c2f92f798427db3774ee714ab993d

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