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1. Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort

Author

Abat, Sharirose, Adalat, Shazia, Agbonmwandolor, Joy, Ahmad, Zubaidah, Alejmi, Abdulfattah, Almasarwah, Rashid, Annear, Nicholas, Asgari, Ellie, Ayers, Amanda, Baharani, Jyoti, Balasubramaniam, Gowrie, Kpodo, Felix Jo-Bamba, Bansal, Tarun, Barratt, Alison, Barratt, Jonathan, Bates, Megan, Bayne, Natalie, Bendle, Janet, Benyon, Sarah, Bergmann, Carsten, Bhandari, Sunil, Bingham, Coralie, Boddana, Preetham, Bond, Sally, Braddon, Fiona, Bramham, Kate, Branson, Angela, Brearey, Stephen, Brocklebank, Vicky, Budwal, Sharanjit, Byrne, Conor, Cairns, Hugh, Camilleri, Brian, Campbell, Gary, Capell, Alys, Carmody, Margaret, Carson, Marion, Cathcart, Tracy, Catley, Christine, Cesar, Karine, Chan, Melanie, Chea, Houda, Chess, James, Cheung, Chee Kay, Chick, Katy-Jane, Chitalia, Nihil, Christian, Martin, Chrysochou, Tina, Clark, Katherine, Clayton, Christopher, Clissold, Rhian, Cockerill, Helen, Coelho, Joshua, Colby, Elizabeth, Colclough, Viv, Conway, Eileen, Cook, H. Terence, Cook, Wendy, Cooper, Theresa, Coward, Richard J., Crosbie, Sarah, Cserep, Gabor, Date, Anjali, Davidson, Katherine, Davies, Amanda, Dhaun, Neeraj, Dhaygude, Ajay, Diskin, Lynn, Dixit, Abhijit, Doctolero, Eunice Ann, Dorey, Suzannah, Downard, Lewis, Drayson, Mark, Dreyer, Gavin, Dutt, Tina, Etuk, Kufreabasi, Evans, Dawn, Finch, Jenny, Flinter, Frances, Fotheringham, James, Francis, Lucy, Gale, Daniel P., Gallagher, Hugh, Game, David, Garcia, Eva Lozano, Gavrila, Madita, Gear, Susie, Geddes, Colin, Gilchrist, Mark, Gittus, Matt, Goggolidou, Paraskevi, Goldsmith, Christopher, Gooden, Patricia, Goodlife, Andrea, Goodwin, Priyanka, Grammatikopoulos, Tassos, Gray, Barry, Griffith, Megan, Gumus, Steph, Gupta, Sanjana, Hamilton, Patrick, Harper, Lorraine, Harris, Tess, Haskell, Louise, Hayward, Samantha, Hegde, Shivaram, Hendry, Bruce, Hewins, Sue, Hewitson, Nicola, Hillman, Kate, Hiremath, Mrityunjay, Howson, Alexandra, Htet, Zay, Huish, Sharon, Hull, Richard, Humphries, Alister, Hunt, David P.J., Hunter, Karl, Hunter, Samantha, Ijeomah-Orji, Marilyn, Inston, Nick, Jayne, David, Jenfa, Gbemisola, Jenkins, Alison, Johnson, Sally, Jones, Caroline A., Jones, Colin, Jones, Amanda, Jones, Rachel, Kamesh, Lavanya, Kanigicherla, Durga, Frankl, Fiona Karet, Karim, Mahzuz, Kaur, Amrit, Kavanagh, David, Kearley, Kelly, Kerecuk, Larissa, Khwaja, Arif, King, Garry, King, Grant, Kislowska, Ewa, Klata, Edyta, Kokocinska, Maria, Lambie, Mark, Lawless, Laura, Ledson, Thomas, Lennon, Rachel, Levine, Adam P., Maggie Lai, Ling Wai, Lipkin, Graham, Lovitt, Graham, Lyons, Paul, Mabillard, Holly, Mackintosh, Katherine, Mahdi, Khalid, Maher, Eamonn, Marchbank, Kevin J., Mark, Patrick B., Masoud, Sherry, Masunda, Bridgett, Mavani, Zainab, Mayfair, Jake, McAdoo, Stephen, Mckinnell, Joanna, Melhem, Nabil, Meyrick, Simon, Moochhala, Shabbir, Morgan, Putnam, Morgan, Ann, Muhammad, Fawad, Murray, Shona, Novobritskaya, Kristina, Ong, Albert CM., Oni, Louise, Osmaston, Kate, Padmanabhan, Neal, Parkes, Sharon, Patrick, Jean, Pattison, James, Paul, Riny, Percival, Rachel, Perkins, Stephen J., Persu, Alexandre, Petchey, William G., Pickering, Matthew C., Pinney, Jennifer, Pitcher, David, Plumb, Lucy, Plummer, Zoe, Popoola, Joyce, Post, Frank, Power, Albert, Pratt, Guy, Pusey, Charles, Rabara, Ria, Rabuya, May, Raju, Tina, Javier, Chadd, Roberts, Ian SD., Roufosse, Candice, Rumjon, Adam, Salama, Alan, Saleem, Moin, Sandford, R.N., Sandu, Kanwaljit S., Sarween, Nadia, Sayer, John A., Sebire, Neil, Selvaskandan, Haresh, Shah, Sapna, Sharma, Asheesh, Sharples, Edward J., Sheerin, Neil, Shetty, Harish, Shroff, Rukshana, Simms, Roslyn, Sinha, Manish, Sinha, Smeeta, Smith, Kerry, Smith, Lara, Srivastava, Shalabh, Steenkamp, Retha, Stott, Ian, Stroud, Katerina, Swift, Pauline, Szklarzewicz, Justyna, Tam, Fred, Tan, Kay, Taylor, Robert, Tischkowitz, Marc, Thomas, Kay, Tse, Yincent, Turnbull, Alison, Turner, A. Neil, Tyerman, Kay, Usher, Miranda, Venkat-Raman, Gopalakrishnan, Walker, Alycon, Walsh, Stephen B., Waters, Aoife, Watt, Angela, Webster, Phil, Wechalekar, Ashutosh, Welsh, Gavin Iain, West, Nicol, Wheeler, David, Wiles, Kate, Willcocks, Lisa, Williams, Angharad, Williams, Emma, Williams, Karen, Wilson, Deborah H., Wilson, Patricia D., Winyard, Paul, Wong, Edwin, Wong, Katie, Wood, Grahame, Woodward, Emma, Woodward, Len, Woolf, Adrian, Wright, David, Downward, Lewis, Griffin, Sian, Hall, Matt, Karet Frankl, Fiona, Maher, Eamonn R., Pinney, Jenny, Tam, Frederick W.K., Wilson, Patricia, Sy, Karla Therese L., Huang, Kui, Ye, Jamie, Nitsch, Dorothea, and Bockenhauer, Detlef

Published
2024
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2. Comprehensive functional characterization of complement factor I rare variant genotypes identified in the SCOPE geographic atrophy cohort

Author

Arora, Rashi, Dennis, Marcus, Flaxel, Christina, Hall, Edward, Hoyng, Carel, Charbel Issa, Peter, Leveziel, Nicolas, Molnár, Fanni, Navarro, Rafael, Schneiderman, Todd, Steel, David, Tadayoni, Ramin, Tezel, Tongalp, Weber, Michel, Hallam, Thomas M., Andreadi, Anneliza, Sharp, Scott J., Brocklebank, Vicky, Gardenal, Emanuela, Dreismann, Anna, Lotery, Andrew J., Marchbank, Kevin J., Harris, Claire L., Jones, Amy V., and Kavanagh, David

Published
2024
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3. Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort

Author

Abat, Sharirose, Adalat, Shazia, Agbonmwandolor, Joy, Ahmad, Zubaidah, Alejmi, Abdulfattah, Almasarwah, Rashid, Annear, Nicholas, Asgari, Ellie, Ayers, Amanda, Baharani, Jyoti, Balasubramaniam, Gowrie, Kpodo, Felix, Bansal, Tarun, Barratt, Alison, Barratt, Jonathan, Bates, Megan, Bayne, Natalie, Bendle, Janet, Benyon, Sarah, Bergmann, Carsten, Bhandari, Sunil, Bingham, Coralie, Boddana, Preetham, Bond, Sally, Braddon, Fiona, Bramham, Kate, Branson, Angela, Brearey, Stephen, Brocklebank, Vicky, Budwal, Sharanjit, Byrne, Conor, Cairns, Hugh, Camilleri, Brian, Campbell, Gary, Capell, Alys, Carmody, Margaret, Carson, Marion, Cathcart, Tracy, Catley, Christine, Cesar, Karine, Chan, Melanie, Chea, Houda, Chess, James, Cheung, Chee Kay, Chick, Katy-Jane, Chitalia, Nihil, Christian, Martin, Chrysochou, Tina, Clark, Katherine, Clayton, Christopher, Clissold, Rhian, Cockerill, Helen, Coelho, Joshua, Colby, Elizabeth, Colclough, Viv, Conway, Eileen, Cook, H Terence, Cook, Wendy, Cooper, Theresa, Coward, Richard J, Crosbie, Sarah, Cserep, Gabor, Date, Anjali, Davidson, Katherine, Davies, Amanda, Dhaun, Neeraj, Dhaygude, Ajay, Diskin, Lynn, Dixit, Abhijit, Doctolero, Eunice, Dorey, Suzannah, Downard, Lewis, Drayson, Mark, Dreyer, Gavin, Dutt, Tina, Etuk, Kufreabasi, Evans, Dawn, Finch, Jenny, Flinter, Frances, Fotheringham, James, Francis, Lucy, Gale, Daniel P, Gallagher, Hugh, Game, David, Garcia, Eva, Gavrila, Madita, Gear, Susie, Geddes, Colin, Gilchrist, Mark, Gittus, Matt, Goggolidou, Paraskevi, Goldsmith, Christopher, Gooden, Patricia, Goodlife, Andrea, Goodwin, Priyanka, Grammatikopoulos, Tassos, Gray, Barry, Griffith, Megan, Gumus, Steph, Gupta, Sanjana, Hamilton, Patrick, Harper, Lorraine, Harris, Tess, Haskell, Louise, Hayward, Samantha, Hegde, Shivaram, Hendry, Bruce, Hewins, Sue, Hewitson, Nicola, Hillman, Kate, Hiremath, Mrityunjay, Howson, Alexandra, Htet, Zay, Huish, Sharon, Hull, Richard, Humphries, Alister, Hunt, David P J, Hunter, Karl, Hunter, Samantha, Ijeomah-Orji, Marilyn, Inston, Nick, Jayne, David, Jenfa, Gbemisola, Jenkins, Alison, Johnson, Sally, Jones, Caroline A, Jones, Colin, Jones, Amanda, Jones, Rachel, Kamesh, Lavanya, Kanigicherla, Durga, Karet Frankl, Fiona, Karim, Mahzuz, Kaur, Amrit, Kavanagh, David, Kearley, Kelly, Kerecuk, Larissa, Khwaja, Arif, King, Garry, King, Grant, Kislowska, Ewa, Klata, Edyta, Kokocinska, Maria, Lambie, Mark, Lawless, Laura, Ledson, Thomas, Lennon, Rachel, Levine, Adam P, Lai, Ling Wai Maggie, Lipkin, Graham, Lovitt, Graham, Lyons, Paul, Mabillard, Holly, Mackintosh, Katherine, Mahdi, Khalid, Maher, Eamonn, Marchbank, Kevin J, Mark, Patrick B, Masoud, Sherry, Masunda, Bridgett, Mavani, Zainab, Mayfair, Jake, McAdoo, Stephen, Mckinnell, Joanna, Melhem, Nabil, Meyrick, Simon, Moochhala, Shabbir, Morgan, Putnam, Morgan, Ann, Muhammad, Fawad, Murray, Shona, Novobritskaya, Kristina, Ong, Albert CM, Oni, Louise, Osmaston, Kate, Padmanabhan, Neal, Parkes, Sharon, Patrick, Jean, Pattison, James, Paul, Riny, Percival, Rachel, Perkins, Stephen J, Persu, Alexandre, Petchey, William G, Pickering, Matthew C, Pinney, Jennifer, Pitcher, David, Plumb, Lucy, Plummer, Zoe, Popoola, Joyce, Post, Frank, Power, Albert, Pratt, Guy, Pusey, Charles, Rabara, Ria, Rabuya, May, Raju, Tina, Javier, Chadd, Roberts, Ian S D, Roufosse, Candice, Rumjon, Adam, Salama, Alan, Saleem, Moin, Sandford, Richard, Sandu, Kanwaljit S, Sarween, Nadia, Sayer, John A, Sebire, Neil, Selvaskandan, Haresh, Sharma, Asheesh, Sharples, Edward J, Sheerin, Neil, Shetty, Harish, Shroff, Rukshana, Simms, Roslyn, Sinha, Manish, Sinha, Smeeta, Smith, Kerry, Smith, Lara, Srivastava, Shalabh, Steenkamp, Retha, Stott, Ian, Stroud, Katerina, Swift, Pauline, Szklarzewicz, Justyna, Tam, Fred, Tan, Kay, Taylor, Robert, Tischkowitz, Marc, Thomas, Kay, Tse, Yincent, Turnbull, Alison, Turner, A Neil, Tyerman, Kay, Usher, Miranda, Venkat-Raman, Gopalakrishnan, Walker, Alycon, Walsh, Stephen B, Waters, Aoife, Watt, Angela, Webster, Phil, Wechalekar, Ashutosh, Welsh, Gavin I, West, Nicol, Wheeler, David, Wiles, Kate, Willcocks, Lisa, Williams, Angharad, Williams, Emma, Williams, Karen, Wilson, Deborah H, Wilson, Patricia D, Winyard, Paul, Wong, Edwin, Wong, Katie, Wood, Grahame, Woodward, Emma, Woodward, Len, Woolf, Adrian, Wright, David, Downward, Lewis, Chrysochou, Constantina, Griffin, Sian, Hall, Matt, Maher, Eamonn R, Pinney, Jenny, Tam, Frederick W K, Turner, Andrew Neil, Wilson, Patricia, Taylor, Christopher Mark, Nitsch, Dorothea, and Bockenhauer, Detlef

Published
2024
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4. Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study

Author

Holt, Richard, Jones, Caroline, Ashman, Neil, Fan, Stanley, Forbes, Suzanne, Rajakariar, Ravindra, De Freitas, Declan, Magee, Colm, Hanko, Jennifer, Milford, David, Muorah, Mordi, Howie, Alexander J., Baharani, Jyoti, Dasgupta, Indranil, Roberts, Russell, MacDiarmaid-Gordon, Adam, Fry, Andrew, Torpey, Nicholas, Waldron, Mary, Awan, Atif, Raftery, Tara, Ratcliffe, Laura, Vilar, Enric, Newman, Joel, Seviar, Dale, Marks, Stephen D., Rees, Lesley, Veligratli, Faidra, Waters, Aoife, Chowdhury, Paramit, Pattison, James, Booth, Caroline, Williams, Nicole, Corbett, Richard, Amin, Beena, Pickering, Matthew, Bramham, Kate, Al-Hamed, Mohamed, Hill, Anita, Mooney, Andrew, Finlay, Eric, Newnham, Amanda, Yadav, Pallavi, Kaur, Amrit, Plant, Nicholas, Shenoy, Mohan, Choong, Lye Wai, Helps, Aileen, McLemon, Robert, Muniraju, Thalakunte, Khan, Izhar, Kidder, Dana, Padmanabhan, Neal, Cousland, Zoe, Price, Jonathan, Taylor, Alison, Jennings, Claudine, Ahmad, Sohail, Mead, Paul, Aslam, Mona, Bebb, Charlotte, Byrne, Catherine, Ferraro, Alastair, Christian, Martin, Evans, Jonathan, Kim, Jon Jin, Lunn, Andrew, Mallik, Meeta, Mason, Phil, Mole, David, Craze, Janet, Sangala, Nicholas, Uniacke, Mark, McGregor, Ellon, Lambie, Stewart, Bhandary, Nitin, Flossmann, Oliver, Mohteshamzadeh, Mobin, Abeyaratne, Asanga, Bingham, Coralie, Clissold, Rhian, Smyth, Lucy, Connolly, John, Reynolds, Ben, Neary, John, Bell, Joanne, Roxburgh, Sarah, Popoola, Joyce, Donne, Rosie, Fardon, Nicholas, Khwaja, Arif, Siddiqi, Shareen, Kumar, Gurinder, Kardasz, Steve, Moore, Iain, Tez, Didem, Willows, Jamie, Davison, Rachel, Harty, John, Wong, William, Williams, Andrew J., Gale, Daniel, Coward, Richard, Inward, Carol, Mraz, Martin, Ayub, Waqar, Short, Andrew, Lappin, David, Baines, Richard, Bommayya, Girish, Houlberg, Kris, Saif, Imran, Gilbert, Rodney, Griffin, Sian, Smith, Graham, Van Der Voort, Judith, Chandar, Jayanthi, Freundlich, Michael, McCarroll, Frank, Wong, Germaine, Laboi, Paul, Molyneux, Rebekah, Brocklebank, Vicky, Walsh, Patrick R., Smith-Jackson, Kate, Hallam, Thomas M., Marchbank, Kevin J., Wilson, Valerie, Bigirumurame, Theophile, Dutt, Tina, Montgomery, Emma K., Malina, Michal, Wong, Edwin K. S., Johnson, Sally, Sheerin, Neil S., and Kavanagh, David

Published
2023
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5. Description and cross-sectional analyses of 25,880 adults and children in the UK National Registry of Rare Kidney Diseases cohort

Author

Wong, Katie, primary, Pitcher, David, additional, Braddon, Fiona, additional, Downward, Lewis, additional, Steenkamp, Retha, additional, Masoud, Sherry, additional, Annear, Nicholas, additional, Barratt, Jonathan, additional, Bingham, Coralie, additional, Coward, Richard J., additional, Chrysochou, Tina, additional, Game, David, additional, Griffin, Sian, additional, Hall, Matt, additional, Johnson, Sally, additional, Kanigicherla, Durga, additional, Karet Frankl, Fiona, additional, Kavanagh, David, additional, Kerecuk, Larissa, additional, Maher, Eamonn R., additional, Moochhala, Shabbir, additional, Pinney, Jenny, additional, Sayer, John A., additional, Simms, Roslyn, additional, Sinha, Smeeta, additional, Srivastava, Shalabh, additional, Tam, Frederick W.K., additional, Thomas, Kay, additional, Turner, A. Neil, additional, Walsh, Stephen B., additional, Waters, Aoife, additional, Wilson, Patricia, additional, Wong, Edwin, additional, Abat, Sharirose, additional, Adalat, Shazia, additional, Agbonmwandolor, Joy, additional, Ahmad, Zubaidah, additional, Alejmi, Abdulfattah, additional, Almasarwah, Rashid, additional, Asgari, Ellie, additional, Ayers, Amanda, additional, Baharani, Jyoti, additional, Balasubramaniam, Gowrie, additional, Jo-Bamba Kpodo, Felix, additional, Bansal, Tarun, additional, Barratt, Alison, additional, Bates, Megan, additional, Bayne, Natalie, additional, Bendle, Janet, additional, Benyon, Sarah, additional, Bergmann, Carsten, additional, Bhandari, Sunil, additional, Boddana, Preetham, additional, Bond, Sally, additional, Bramham, Kate, additional, Branson, Angela, additional, Brearey, Stephen, additional, Brocklebank, Vicky, additional, Budwal, Sharanjit, additional, Byrne, Conor, additional, Cairns, Hugh, additional, Camilleri, Brian, additional, Campbell, Gary, additional, Capell, Alys, additional, Carmody, Margaret, additional, Carson, Marion, additional, Cathcart, Tracy, additional, Catley, Christine, additional, Cesar, Karine, additional, Chan, Melanie, additional, Chea, Houda, additional, Chess, James, additional, Cheung, Chee Kay, additional, Chick, Katy-Jane, additional, Chitalia, Nihil, additional, Christian, Martin, additional, Clark, Katherine, additional, Clayton, Christopher, additional, Clissold, Rhian, additional, Cockerill, Helen, additional, Coelho, Joshua, additional, Colby, Elizabeth, additional, Colclough, Viv, additional, Conway, Eileen, additional, Cook, H. Terence, additional, Cook, Wendy, additional, Cooper, Theresa, additional, Crosbie, Sarah, additional, Cserep, Gabor, additional, Date, Anjali, additional, Davidson, Katherine, additional, Davies, Amanda, additional, Dhaun, Neeraj, additional, Dhaygude, Ajay, additional, Diskin, Lynn, additional, Dixit, Abhijit, additional, Doctolero, Eunice Ann, additional, Dorey, Suzannah, additional, Downard, Lewis, additional, Drayson, Mark, additional, Dreyer, Gavin, additional, Dutt, Tina, additional, Etuk, Kufreabasi, additional, Evans, Dawn, additional, Finch, Jenny, additional, Flinter, Frances, additional, Fotheringham, James, additional, Francis, Lucy, additional, Gale, Daniel P., additional, Gallagher, Hugh, additional, Garcia, Eva Lozano, additional, Gavrila, Madita, additional, Gear, Susie, additional, Geddes, Colin, additional, Gilchrist, Mark, additional, Gittus, Matt, additional, Goggolidou, Paraskevi, additional, Goldsmith, Christopher, additional, Gooden, Patricia, additional, Goodlife, Andrea, additional, Goodwin, Priyanka, additional, Grammatikopoulos, Tassos, additional, Gray, Barry, additional, Griffith, Megan, additional, Gumus, Steph, additional, Gupta, Sanjana, additional, Hamilton, Patrick, additional, Harper, Lorraine, additional, Harris, Tess, additional, Haskell, Louise, additional, Hayward, Samantha, additional, Hegde, Shivaram, additional, Hendry, Bruce, additional, Hewins, Sue, additional, Hewitson, Nicola, additional, Hillman, Kate, additional, Hiremath, Mrityunjay, additional, Howson, Alexandra, additional, Htet, Zay, additional, Huish, Sharon, additional, Hull, Richard, additional, Humphries, Alister, additional, Hunt, David P.J., additional, Hunter, Karl, additional, Hunter, Samantha, additional, Ijeomah-Orji, Marilyn, additional, Inston, Nick, additional, Jayne, David, additional, Jenfa, Gbemisola, additional, Jenkins, Alison, additional, Jones, Caroline A., additional, Jones, Colin, additional, Jones, Amanda, additional, Jones, Rachel, additional, Kamesh, Lavanya, additional, Frankl, Fiona Karet, additional, Karim, Mahzuz, additional, Kaur, Amrit, additional, Kearley, Kelly, additional, Khwaja, Arif, additional, King, Garry, additional, King, Grant, additional, Kislowska, Ewa, additional, Klata, Edyta, additional, Kokocinska, Maria, additional, Lambie, Mark, additional, Lawless, Laura, additional, Ledson, Thomas, additional, Lennon, Rachel, additional, Levine, Adam P., additional, Maggie Lai, Ling Wai, additional, Lipkin, Graham, additional, Lovitt, Graham, additional, Lyons, Paul, additional, Mabillard, Holly, additional, Mackintosh, Katherine, additional, Mahdi, Khalid, additional, Maher, Eamonn, additional, Marchbank, Kevin J., additional, Mark, Patrick B., additional, Masunda, Bridgett, additional, Mavani, Zainab, additional, Mayfair, Jake, additional, McAdoo, Stephen, additional, Mckinnell, Joanna, additional, Melhem, Nabil, additional, Meyrick, Simon, additional, Morgan, Putnam, additional, Morgan, Ann, additional, Muhammad, Fawad, additional, Murray, Shona, additional, Novobritskaya, Kristina, additional, Ong, Albert CM., additional, Oni, Louise, additional, Osmaston, Kate, additional, Padmanabhan, Neal, additional, Parkes, Sharon, additional, Patrick, Jean, additional, Pattison, James, additional, Paul, Riny, additional, Percival, Rachel, additional, Perkins, Stephen J., additional, Persu, Alexandre, additional, Petchey, William G., additional, Pickering, Matthew C., additional, Pinney, Jennifer, additional, Plumb, Lucy, additional, Plummer, Zoe, additional, Popoola, Joyce, additional, Post, Frank, additional, Power, Albert, additional, Pratt, Guy, additional, Pusey, Charles, additional, Rabara, Ria, additional, Rabuya, May, additional, Raju, Tina, additional, Javier, Chadd, additional, Roberts, Ian SD., additional, Roufosse, Candice, additional, Rumjon, Adam, additional, Salama, Alan, additional, Saleem, Moin, additional, Sandford, R.N., additional, Sandu, Kanwaljit S., additional, Sarween, Nadia, additional, Sebire, Neil, additional, Selvaskandan, Haresh, additional, Shah, Sapna, additional, Sharma, Asheesh, additional, Sharples, Edward J., additional, Sheerin, Neil, additional, Shetty, Harish, additional, Shroff, Rukshana, additional, Sinha, Manish, additional, Smith, Kerry, additional, Smith, Lara, additional, Stott, Ian, additional, Stroud, Katerina, additional, Swift, Pauline, additional, Szklarzewicz, Justyna, additional, Tam, Fred, additional, Tan, Kay, additional, Taylor, Robert, additional, Tischkowitz, Marc, additional, Tse, Yincent, additional, Turnbull, Alison, additional, Turner, A Neil, additional, Tyerman, Kay, additional, Usher, Miranda, additional, Venkat-Raman, Gopalakrishnan, additional, Walker, Alycon, additional, Watt, Angela, additional, Webster, Phil, additional, Wechalekar, Ashutosh, additional, Welsh, Gavin Iain, additional, West, Nicol, additional, Wheeler, David, additional, Wiles, Kate, additional, Willcocks, Lisa, additional, Williams, Angharad, additional, Williams, Emma, additional, Williams, Karen, additional, Wilson, Deborah H., additional, Wilson, Patricia D., additional, Winyard, Paul, additional, Wong, Katie, additional, Wood, Grahame, additional, Woodward, Emma, additional, Woodward, Len, additional, Woolf, Adrian, additional, Wright, David, additional, Sy, Karla Therese L., additional, Huang, Kui, additional, Ye, Jamie, additional, Nitsch, Dorothea, additional, and Bockenhauer, Detlef, additional

Published
2024
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6. Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort

Author

Wong, Katie, primary, Pitcher, David, additional, Braddon, Fiona, additional, Downward, Lewis, additional, Steenkamp, Retha, additional, Annear, Nicholas, additional, Barratt, Jonathan, additional, Bingham, Coralie, additional, Chrysochou, Constantina, additional, Coward, Richard J, additional, Game, David, additional, Griffin, Sian, additional, Hall, Matt, additional, Johnson, Sally, additional, Kanigicherla, Durga, additional, Karet Frankl, Fiona, additional, Kavanagh, David, additional, Kerecuk, Larissa, additional, Maher, Eamonn R, additional, Moochhala, Shabbir, additional, Pinney, Jenny, additional, Sayer, John A, additional, Simms, Roslyn, additional, Sinha, Smeeta, additional, Srivastava, Shalabh, additional, Tam, Frederick W K, additional, Turner, Andrew Neil, additional, Walsh, Stephen B, additional, Waters, Aoife, additional, Wilson, Patricia, additional, Wong, Edwin, additional, Taylor, Christopher Mark, additional, Nitsch, Dorothea, additional, Saleem, Moin, additional, Bockenhauer, Detlef, additional, Bramham, Kate, additional, Gale, Daniel P, additional, Abat, Sharirose, additional, Adalat, Shazia, additional, Agbonmwandolor, Joy, additional, Ahmad, Zubaidah, additional, Alejmi, Abdulfattah, additional, Almasarwah, Rashid, additional, Asgari, Ellie, additional, Ayers, Amanda, additional, Baharani, Jyoti, additional, Balasubramaniam, Gowrie, additional, Kpodo, Felix, additional, Bansal, Tarun, additional, Barratt, Alison, additional, Bates, Megan, additional, Bayne, Natalie, additional, Bendle, Janet, additional, Benyon, Sarah, additional, Bergmann, Carsten, additional, Bhandari, Sunil, additional, Boddana, Preetham, additional, Bond, Sally, additional, Branson, Angela, additional, Brearey, Stephen, additional, Brocklebank, Vicky, additional, Budwal, Sharanjit, additional, Byrne, Conor, additional, Cairns, Hugh, additional, Camilleri, Brian, additional, Campbell, Gary, additional, Capell, Alys, additional, Carmody, Margaret, additional, Carson, Marion, additional, Cathcart, Tracy, additional, Catley, Christine, additional, Cesar, Karine, additional, Chan, Melanie, additional, Chea, Houda, additional, Chess, James, additional, Cheung, Chee Kay, additional, Chick, Katy-Jane, additional, Chitalia, Nihil, additional, Christian, Martin, additional, Chrysochou, Tina, additional, Clark, Katherine, additional, Clayton, Christopher, additional, Clissold, Rhian, additional, Cockerill, Helen, additional, Coelho, Joshua, additional, Colby, Elizabeth, additional, Colclough, Viv, additional, Conway, Eileen, additional, Cook, H Terence, additional, Cook, Wendy, additional, Cooper, Theresa, additional, Crosbie, Sarah, additional, Cserep, Gabor, additional, Date, Anjali, additional, Davidson, Katherine, additional, Davies, Amanda, additional, Dhaun, Neeraj, additional, Dhaygude, Ajay, additional, Diskin, Lynn, additional, Dixit, Abhijit, additional, Doctolero, Eunice, additional, Dorey, Suzannah, additional, Downard, Lewis, additional, Drayson, Mark, additional, Dreyer, Gavin, additional, Dutt, Tina, additional, Etuk, Kufreabasi, additional, Evans, Dawn, additional, Finch, Jenny, additional, Flinter, Frances, additional, Fotheringham, James, additional, Francis, Lucy, additional, Gallagher, Hugh, additional, Garcia, Eva, additional, Gavrila, Madita, additional, Gear, Susie, additional, Geddes, Colin, additional, Gilchrist, Mark, additional, Gittus, Matt, additional, Goggolidou, Paraskevi, additional, Goldsmith, Christopher, additional, Gooden, Patricia, additional, Goodlife, Andrea, additional, Goodwin, Priyanka, additional, Grammatikopoulos, Tassos, additional, Gray, Barry, additional, Griffith, Megan, additional, Gumus, Steph, additional, Gupta, Sanjana, additional, Hamilton, Patrick, additional, Harper, Lorraine, additional, Harris, Tess, additional, Haskell, Louise, additional, Hayward, Samantha, additional, Hegde, Shivaram, additional, Hendry, Bruce, additional, Hewins, Sue, additional, Hewitson, Nicola, additional, Hillman, Kate, additional, Hiremath, Mrityunjay, additional, Howson, Alexandra, additional, Htet, Zay, additional, Huish, Sharon, additional, Hull, Richard, additional, Humphries, Alister, additional, Hunt, David P J, additional, Hunter, Karl, additional, Hunter, Samantha, additional, Ijeomah-Orji, Marilyn, additional, Inston, Nick, additional, Jayne, David, additional, Jenfa, Gbemisola, additional, Jenkins, Alison, additional, Jones, Caroline A, additional, Jones, Colin, additional, Jones, Amanda, additional, Jones, Rachel, additional, Kamesh, Lavanya, additional, Karim, Mahzuz, additional, Kaur, Amrit, additional, Kearley, Kelly, additional, Khwaja, Arif, additional, King, Garry, additional, King, Grant, additional, Kislowska, Ewa, additional, Klata, Edyta, additional, Kokocinska, Maria, additional, Lambie, Mark, additional, Lawless, Laura, additional, Ledson, Thomas, additional, Lennon, Rachel, additional, Levine, Adam P, additional, Lai, Ling Wai Maggie, additional, Lipkin, Graham, additional, Lovitt, Graham, additional, Lyons, Paul, additional, Mabillard, Holly, additional, Mackintosh, Katherine, additional, Mahdi, Khalid, additional, Maher, Eamonn, additional, Marchbank, Kevin J, additional, Mark, Patrick B, additional, Masoud, Sherry, additional, Masunda, Bridgett, additional, Mavani, Zainab, additional, Mayfair, Jake, additional, McAdoo, Stephen, additional, Mckinnell, Joanna, additional, Melhem, Nabil, additional, Meyrick, Simon, additional, Morgan, Putnam, additional, Morgan, Ann, additional, Muhammad, Fawad, additional, Murray, Shona, additional, Novobritskaya, Kristina, additional, Ong, Albert CM, additional, Oni, Louise, additional, Osmaston, Kate, additional, Padmanabhan, Neal, additional, Parkes, Sharon, additional, Patrick, Jean, additional, Pattison, James, additional, Paul, Riny, additional, Percival, Rachel, additional, Perkins, Stephen J, additional, Persu, Alexandre, additional, Petchey, William G, additional, Pickering, Matthew C, additional, Pinney, Jennifer, additional, Plumb, Lucy, additional, Plummer, Zoe, additional, Popoola, Joyce, additional, Post, Frank, additional, Power, Albert, additional, Pratt, Guy, additional, Pusey, Charles, additional, Rabara, Ria, additional, Rabuya, May, additional, Raju, Tina, additional, Javier, Chadd, additional, Roberts, Ian S D, additional, Roufosse, Candice, additional, Rumjon, Adam, additional, Salama, Alan, additional, Sandford, Richard, additional, Sandu, Kanwaljit S, additional, Sarween, Nadia, additional, Sebire, Neil, additional, Selvaskandan, Haresh, additional, Sharma, Asheesh, additional, Sharples, Edward J, additional, Sheerin, Neil, additional, Shetty, Harish, additional, Shroff, Rukshana, additional, Sinha, Manish, additional, Smith, Kerry, additional, Smith, Lara, additional, Stott, Ian, additional, Stroud, Katerina, additional, Swift, Pauline, additional, Szklarzewicz, Justyna, additional, Tam, Fred, additional, Tan, Kay, additional, Taylor, Robert, additional, Tischkowitz, Marc, additional, Thomas, Kay, additional, Tse, Yincent, additional, Turnbull, Alison, additional, Turner, A Neil, additional, Tyerman, Kay, additional, Usher, Miranda, additional, Venkat-Raman, Gopalakrishnan, additional, Walker, Alycon, additional, Watt, Angela, additional, Webster, Phil, additional, Wechalekar, Ashutosh, additional, Welsh, Gavin I, additional, West, Nicol, additional, Wheeler, David, additional, Wiles, Kate, additional, Willcocks, Lisa, additional, Williams, Angharad, additional, Williams, Emma, additional, Williams, Karen, additional, Wilson, Deborah H, additional, Wilson, Patricia D, additional, Winyard, Paul, additional, Wong, Katie, additional, Wood, Grahame, additional, Woodward, Emma, additional, Woodward, Len, additional, Woolf, Adrian, additional, and Wright, David, additional

Published
2024
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7. Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study

Author

Brocklebank, Vicky, primary, Walsh, Patrick R., additional, Smith-Jackson, Kate, additional, Hallam, Thomas M., additional, Marchbank, Kevin J., additional, Wilson, Valerie, additional, Bigirumurame, Theophile, additional, Dutt, Tina, additional, Montgomery, Emma K., additional, Malina, Michal, additional, Wong, Edwin K. S., additional, Johnson, Sally, additional, Sheerin, Neil S., additional, and Kavanagh, David, additional

Published
2023
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9. A novel method for real-time analysis of the complement C3b:FH:FI complex reveals dominant negative CFI variants in age-related macular degeneration

Author

Hallam, Thomas M., primary, Cox, Thomas E., additional, Smith-Jackson, Kate, additional, Brocklebank, Vicky, additional, Baral, April J., additional, Tzoumas, Nikolaos, additional, Steel, David H., additional, Wong, Edwin K. S., additional, Shuttleworth, Victoria G., additional, Lotery, Andrew J., additional, Harris, Claire L., additional, Marchbank, Kevin J., additional, and Kavanagh, David, additional

Published
2022
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12. Contribution of animal models to the mechanistic understanding of Alternative Pathway and Amplification Loop (AP/AL)‐driven Complement‐mediated Diseases.

Author

Gibson, Beth G., Cox, Thomas E., and Marchbank, Kevin J.

Subjects
ANIMAL models in research, KNOCKOUT mice, MACULAR degeneration, IN vivo studies, COMPLEMENT activation, HERD immunity
Abstract

Summary: This review aimed to capture the key findings that animal models have provided around the role of the alternative pathway and amplification loop (AP/AL) in disease. Animal models, particularly mouse models, have been incredibly useful to define the role of complement and the alternative pathway in health and disease; for instance, the use of cobra venom factor and depletion of C3 provided the initial insight that complement was essential to generate an appropriate adaptive immune response. The development of knockout mice have further underlined the importance of the AP/AL in disease, with the FH knockout mouse paving the way for the first anti‐complement drugs. The impact from the development of FB, properdin, and C3 knockout mice closely follows this in terms of mechanistic understanding in disease. Indeed, our current understanding that complement plays a role in most conditions at one level or another is rooted in many of these in vivo studies. That C3, in particular, has roles beyond the obvious in innate and adaptive immunity, normal physiology, and cellular functions, with or without other recognized AP components, we would argue, only extends the reach of this arm of the complement system. Humanized mouse models also continue to play their part. Here, we argue that the animal models developed over the last few decades have truly helped define the role of the AP/AL in disease. [ABSTRACT FROM AUTHOR]

Published
2023
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13. Homodimeric Minimal Factor H: In Vivo Tracking and Extended Dosing Studies in Factor H Deficient Mice

Author

Kamala, Ola, primary, Malik, Talat H., additional, Hallam, Thomas M., additional, Cox, Thomas E., additional, Yang, Yi, additional, Vyas, Falguni, additional, Luli, Saimir, additional, Connelly, Chloe, additional, Gibson, Beth, additional, Smith-Jackson, Kate, additional, Denton, Harriet, additional, Pappworth, Isabel Y., additional, Huang, Lei, additional, Kavanagh, David, additional, Pickering, Matthew C., additional, and Marchbank, Kevin J., additional

Published
2021
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14. Comprehensive functional characterization of complement factor I rare variant genotypes identified in the SCOPE geographic atrophy cohort.

Author

Hallam, Thomas M., Andreadi, Anneliza, Sharp, Scott J., Brocklebank, Vicky, Gardenal, Emanuela, Dreismann, Anna, Lotery, Andrew J., Marchbank, Kevin J., Harris, Claire L., Jones, Amy V., and Kavanagh, David

Abstract

Rare variants (RVs) in the gene encoding the regulatory enzyme complement factor I (CFI; FI) that reduce protein function or levels increase age-related macular degeneration risk. A total of 3357 subjects underwent screening in the SCOPE natural history study for geographic atrophy secondary to agerelated macular degeneration, including CFI sequencing and serum FI measurement. Eleven CFI RV genotypes that were challenging to categorize as type I (low serum level) or type II (normal serum level, reduced enzymatic function) were characterized in the context of pure FI protein in C3b and C4b fluid phase cleavage assays and a novel bead-based functional assay (BBFA) of C3b cleavage. Four variants predicted or previously characterized as benign were analyzed by BBFA for comparison. In all, three variants (W51S, C67R, and I370T) resulted in low expression. Furthermore, four variants (P64L, R339Q, G527V, and P528T) were identified as being highly deleterious with IC50s for C3b breakdown >1 log increased versus the WT protein, while two variants (K476E and R474Q) were-1 log reduced in function. Meanwhile, six variants (P50A, T203I, K441R, E548Q, P553S, and S570T) had IC50s similar to WT. Odds ratios and BBFA IC50s were positively correlated (r = 0.76, p < 0.01), while odds ratios versus combined annotation dependent depletion (CADD) scores were not (r = 0.43, p = 0.16). Overall, 15 CFI RVs were functionally characterized which may aid future patient stratification for complement-targeted therapies. Pure protein in vitro analysis remains the gold standard for determining the functional consequence of CFI RVs. [ABSTRACT FROM AUTHOR]

Published
2024
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15. The role of complement factor I rare genetic variants in age related macular degeneration in Finland.

Author

Andreadi A, Hallam TM, Brocklebank V, Sharp SJ, Walsh PR, Southerington T, Hautalahti M, Steel DH, Lotery AJ, Harris CL, Marchbank KJ, Kavanagh D, and Jones AV

Abstract

Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in the developed world. The alternative pathway (AP) of complement has been linked to the pathogenesis of AMD. In particular, rare variants (RVs) in the complement factor I (CFI) gene encoding the Factor I (FI) protein confer increased AMD risk. The prevalence of CFI RVs are well characterised in European AMD, however little is known about other populations. The Finnish population underwent genetic restriction events which have skewed allele frequencies in unexpected ways. A series of novel or enriched CFI RVs were identified in individuals with dry AMD from the Finnish Biobank Cooperative (FINBB), but the relationship between these genotypes and contribution to disease was unclear. Understanding how RVs impact the ability of FI to regulate the complement system is important to inform mechanistic understanding for how different genotypes contribute to disease development. To explore this a series of in vitro assays were used to functionally characterise the protein products of 3 CFI RVs enriched in FINBB dry AMD, where no prior data were available. The G547R variant resulted in almost complete loss of both classical pathway and AP regulatory potential. The c.982 g>a variant encoding G328R FI perturbed an exon splice enhancer site which resulted in exon skipping and a premature stop codon in vitro and low levels of FI in vivo. Despite detailed analysis no defect in levels or function was demonstrated in T107A. Functional characterization of all Finnish CFI RVs in the cohort allowed us to demonstrate that in Finnish dry AMD, collectively the type 1 CFI RVs (associated with FI haploinsufficiency) were significantly enriched with odds ratio (ORs) of 72.6 (95% confidence interval; CI 16.92 to 382.1). Meanwhile, type 2 CFI RVs (associated with FI dysfunction) collectively conferred a significant OR of 4.97 (95% CI 1.522 to 15.74), and non-impaired or normal CFI RV collectively conferred an of OR 3.19 (95% CI 2.410 to 4.191) although this was driven primarily by G261D. Overall, this study for the first time determined the ORs and functional effect for all CFI RVs within a Geographic Atrophy (GA) cohort, enabling calculations of combined risk scores that underline the risk conferred by type 1 and 2 CFI RVs in GA/AMD., (© The Author(s) 2024. Published by Oxford University Press.)

Published
2024
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