A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies von Nixon, Kevin C.J., Rousseau, Justine, Stone, Max H., Sarikahya, Mohammed, Ehresmann, Sophie, Mizuno, Seiji, Matsumoto, Naomichi, Miyake, Noriko, Baralle, Diana, McKee, Shane, Izumi, Kosuke, Ritter, Alyssa L., Heide, Solveig, Héron, Delphine, Depienne, Christel, Titheradge, Hannah, Kramer, Jamie M., Campeau, Philippe M.

Volltext

Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition von Burleigh, A, Moraitis, E, Al Masroori, E, Al-Abadi, E, Hong, Y, Omoyinmi, E, Titheradge, H, Stals, K, Jones, WD, Gait, A, Jayarajan, V, Di, WL, Sebire, N, Solman, L, Ogboli, M, Welch, SB, Sudarsanam, A, Wacogne, I, Price-Kuehne, F, Jensen, B, Brogan, PA, Eleftheriou, D

Volltext bestellen

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project von Pagnamenta, A.T, Yu, J, Walker, S, Noble, A.J, Lord, J, Dutta, P, Hashim, M, Camps, C, Green, H, Devaiah, S, Nashef, L, Parr, J, Fratter, C, Ibnouf Hussein, R, Lindsay, S.J, Lalloo, F, Banos-Pinero, B, Evans, D, Mallin, L, Waite, A, Evans, J, Newman, A, Allen, Z, Perez-Becerril, C, Ryan, G, Hart, R, Taylor, J, Bedenham, T, Clement, E, Blair, E, Hay, E, Forzano, F, Higgs, J, Canham, N, Majumdar, A, McEntagart, M, Lahiri, N, Stewart, H, Smithson, S, Calpena, E, Jackson, A, Banka, S, Titheradge, H, McGowan, R, Rankin, J, Shaw-Smith, C, Evans, D.G, Burghel, G.J, Smith, M.J, Anderson, E, Madhu, R, Firth, H, Ellard, S, Brennan, P, Anderson, C, Taupin, D, Rogers, M.T, Cook, J.A, Durkie, M, East, J.E, Fowler, D, Wilson, L, Igbokwe, R, Gardham, A, Tomlinson, I, Baralle, D, Uhlig, H.H, Taylor, J.C

Volltext bestellen

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities von Cali, E., Suri, M., Scala, M., Ferla, M.P., Alavi, S., Faqeih, E.A., Bijlsma, E.K., Wigby, K.M., Baralle, D., Mehrjardi, M.Y.V., Schwab, J., Platzer, K., Steindl, K., Hashem, M., Jones, M., Niyazov, D.M., Jacober, J., Littlejohn, R.O., Weis, D., Zadeh, N., Rodan, L., Goldenberg, A., Lecoquierre, F., Dutra-Clarke, M., Horvath, G., Young, D., Orenstein, N., Bawazeer, S., Vulto-van Silfhout, A.T., Herenger, Y., Dehghani, M., Seyedhassani, S.M., Bahreini, A., Nasab, M.E., Ercan-Sencicek, A.G., Firoozfar, Z., Movahedinia, M., Efthymiou, S., Striano, P., Karimiani, E.G., Salpietro, V., Taylor, J.C., Redman, M., Stegmann, A.P.A., Laner, A., Abdel-Salam, G., Li, M.G., Bengala, M., Müller, A.J., Digilio, M.C., Rauch, A., Gunel, M., Titheradge, H., Schweitzer, D.N., Kraus, A., Valenzuela, I., McLean, S.D., Phornphutkul, C., Salih, M., Begtrup, A., Schnur, R.E., Torti, E., Haack, T.B., Prada, C.E., Alkuraya, F.S., Houlden, H., Maroofian, R.

Volltext bestellen

Phenotypic spectrum in osteogenesis imperfecta due to mutations in TMEM38B: unravelling a complex cellular defect von Webb, E.A, Balasubramanian, M, Fratzl-Zelman, N, Cabral, W.A, Titheradge, H, Alsaedi, A, Saraff, V, Vogt, J, Cole, T, Stewart, S, Crabtree, N.J, Sargent, B.M, Gamsjaeger, S, Paschalis, E.P, Roschger, P, Klaushofer, K, Shaw, N.J, Marini, J.C, Högler, W

Volltext bestellen

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression von Rocha, N, Bulger, DA, Frontini, A, Titheradge, H, Gribsholt, SB, Knox, R, Page, M, Harris, J, Payne, F, Adams, C, Sleigh, A, Crawford, J, Gjesing, AP, Bork-Jensen, J, Pedersen, O, Barroso, I, Hansen, T, Cox, H, Reilly, M, Rossor, A, Brown, RJ, Taylor, SI, McHale, D, Armstrong, M, Oral, EA, Saudek, V, O'Rahilly, S, Maher, ER, Richelsen, B, Savage, DB, Semple, RK

Volltext bestellen

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression von Rocha, NH, Bulger, DA, Frontini, AH, Titheradge, HB, Gribsholt, SB, Knox, RH, Pages, MB, Harris, JH, Payne, FB, Adams, CH, Sleigh, AH, Crawford, JB, Gjesing, AB, Jensen, JD, Pedersen, OA, Barrow, IB, Hansen, TF, Cox, HE, Reilly, MC, Rossor, AD, Brown, RJ, Taylor, SI, McHale, DC, Armstrong, MB, Oral, EA, Saudek, VC, O'Rahilly, SB, Maher, ER, Richelsen, BA, Savage, DB, Semple, RK

Volltext bestellen

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression von Rocha, Nuno, Bulger, David A, Frontini, Andrea, Titheradge, Hannah, Gribsholt, Sigrid Bjerge, Knox, Rachel, Page, Matthew, Harris, Julie, Payne, Felicity, Adams, Claire, Sleigh, Alison, Crawford, John, Gjesing, Anette Prior, Bork-Jensen, Jette, Pedersen, Oluf, Barroso, Inês, Hansen, Torben, Cox, Helen, Reilly, Mary, Rossor, Alex, Brown, Rebecca J, Taylor, Simeon I, McHale, Duncan, Armstrong, Martin, Oral, Elif A, Saudek, Vladimir, O'Rahilly, Stephen, Maher, Eamonn R, Richelsen, Bjørn, Savage, David B, Semple, Robert K

Volltext

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype von Tatton-Brown, Katrina, Murray, Anne, Hanks, Sandra, Douglas, Jenny, Armstrong, Ruth, Banka, Siddharth, Bird, Lynne M., Clericuzio, Carol L., Cormier-Daire, Valerie, Cushing, Tom, Flinter, Frances, Jacquemont, Marie-Line, Joss, Shelagh, Kinning, Esther, Lynch, Sally Ann, Magee, Alex, McConnell, Vivienne, Medeira, Ana, Ozono, Keiichi, Patton, Michael, Rankin, Julia, Shears, Debbie, Simon, Marleen, Splitt, Miranda, Strenger, Volker, Stuurman, Kyra, Taylor, Clare, Titheradge, Hannah, Van Maldergem, Lionel, Temple, I. Karen, Cole, Trevor, Seal, Sheila, Rahman, Nazneen

Volltext

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project von Pagnamenta, Alistair T., Yu, Jing, Walker, Susan, Noble, Alexandra J., Lord, Jenny, Dutta, Prasun, Hashim, Mona, Camps, Carme, Green, Hannah, Devaiah, Smrithi, Nashef, Lina, Parr, Jason, Fratter, Carl, Ibnouf Hussein, Rana, Lindsay, Sarah J., Lalloo, Fiona, Banos-Pinero, Benito, Evans, David, Mallin, Lucy, Waite, Adrian, Evans, Julie, Newman, Andrew, Allen, Zoe, Perez-Becerril, Cristina, Ryan, Gavin, Hart, Rachel, Taylor, John, Bedenham, Tina, Clement, Emma, Blair, Ed, Hay, Eleanor, Forzano, Francesca, Higgs, Jenny, Canham, Natalie, Majumdar, Anirban, McEntagart, Meriel, Lahiri, Nayana, Stewart, Helen, Smithson, Sarah, Calpena, Eduardo, Jackson, Adam, Banka, Siddharth, Titheradge, Hannah, McGowan, Ruth, Rankin, Julia, Shaw-Smith, Charles, Evans, D. Gareth, Burghel, George J., Smith, Miriam J., Anderson, Emily, Madhu, Rajesh, Firth, Helen, Ellard, Sian, Brennan, Paul, Anderson, Claire, Taupin, Doug, Rogers, Mark T., Cook, Jackie A., Durkie, Miranda, East, James E., Fowler, Darren, Wilson, Louise, Igbokwe, Rebecca, Gardham, Alice, Tomlinson, Ian, Baralle, Diana, Uhlig, Holm H., Taylor, Jenny C.

Volltext

The role of transforming growth factor-β1 and oxidative stress in podoconiosis pathogenesis von Addisu, S., El-Metwally, T.H., Davey, G., Worku, Y., Titheradge, M.A.

Volltext

Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients von Hamad, Asma, Sherlaw-Sturrock, Charlotte A., Glover, Kate, Salmon, Rachel, Low, Karen, Nair, Ramya, Sansbury, Francis H., Rawlins, LettieE, Carmichael, Jenny, Horton, Rachael, Wedderburn, Sarah, Edgerley, Katherine, Irving, Rachel, Callaghan, Mary, Mercer, Catherine, McGowan, Ruth, Robert, Leema, Titheradge, Hannah, Naik, Swati

Volltext

A national multicentre study of outcomes and patient satisfaction with the virtual fracture clinic and the influence of the COVID-19 pandemic: The MAVCOV study von Ng, Zhan H., Downie, Samantha, Duckworth, Andrew D., Lim, Jun Wei, Lau, Nicole, Zhou, Andrew, Khan, Wasim, Foster, Amy, Rutherfoord, Catharine, Ensor, David, Akula, Maheswara, Gibbs, James, Titheradge, Rachel, Nair, Abhinav, Prowse, James, Birole, Umesh, Russell, Aimee, Bigsby, Ewan, Mangtani, Anisha, Brameier, Devon, Rooker, Jemma, Anwer, Mohammed Azher, Attwood, Joe, Sturdee, Simon, McVie, James, Lindh, Amy, Kettle, Sarah, Genena, Ahmed, Hourston, George, Garg, Sunil, Shyamsundar, Srinivasan, Tavakkolizadeh, Adel, O'Hanlon, Ciaran, Everton, Harry Donkin, Pilkington, Isobel, Anwar, Walid, Nijamudeen, Aysha, Tint, Pyi Han, Sengupta, Shreya, Virji, Faizan, Liao, Quintin, Witek, Alexander, Parwaiz, Hammad, Aboelmagd, Karim, Davies, Peter, Macdonald, Angus, Moedbeck, Edwina, Barber, Margaret, Harrold, Fraser, Abishek, Joshua, Downie, Samantha, Ko, Chai Chi, Lewis, Charlotte, Thiruchandran, Gajendiran, Wilson, Christopher, Wickramarachchi, Lilanthi, Abouelela, Amr, Aros-Atolagbe, Robert, Jalal, Murtadhah, Leung, Billy, Neal-Smith, Gregory, Davies, Neville, Jarrat, Jeremy, Berry, Alexander, Patel, Akash, Awow, Fatima, Khanal, Pragalva, Athawes, Kirsten, Malagelada, Francesc, Ogunfuye, Omodolapo, Havenhand, Tom, Do, Anh Duy, Hunter, Joel, Choudhary, Tashi, Campbell, Aaron, Mercer, Alexandra, McGoldrick, Peter, Kakar, Sahil, McKenna, Sean, Boutros, Ihab, Vial, Izziddine, Bhullar, Samraj, Fell, Adam, Sobti, Anshul, Lim, Wei Boon, Michla, Yusuf, McConway, Jim, Elliott, Jonathan, Yusuf, Hannah, Abdel-Fattah, Areej, Ismayl, Ghiath, Khadabadi, Nikhil, Ibrahim, Edward, Sivaganesh, Karthikeyan, Ogunjimi, Michael, McCluskey, Aled, Cuthbert, Rory, Shaeir, Mohammed, Helston, Olivia, Koh, Yun Jee

Volltext

GLUCAGON DECREASES CYTOKINE INDUCTION OF NITRIC OXIDE SYNTHASE AND ACTION ON INSULIN SECRETION IN RIN5F CELLS AND RAT AND HUMAN ISLETS OF LANGERHANS von Belin, V.D, Mabley, J.G, James, R.F.L, Swift, S.M, Clayton, H.A, Titheradge, M.A, Green, I.C

Volltext

The role of transforming growth factor-beta1 and oxidative stress in podoconiosis pathogenesis von Addisu, S, El-Metwally, T H, Davey, G, Worku, Y, Titheradge, M A

Volltext

Hormonal regulation of liver mitochondrial pyruvate carrier in relation to gluconeogenesis and lipogenesis von Titheradge, M.A., Coore, H.G.

Volltext

The mitochondrial pyruvate carrier, its exchange properties and its regulation by glucagon von Titheradge, M.A., Coore, H.G.

Volltext

The stimulation of hepatic oxidative phosphorylation following dexamethasone treatment of rats von Allan, Elizabeth H., Chisholm, Amanda B., Titheradge, Michael A.

Volltext

Hormonal stimulation of mitochondrial pyruvate carboxylation in filipin-treated hepatocytes von Allan, E H, Chisholm, A B, Titheradge, M A

Volltext

The stimulation of glycogenolysis in isolated hepatocytes by opioid peptides von Leach, R P, Allan, E H, Titheradge, M A

Volltext