Results 31 to 40 of about 225,526 (314)
The Syndromes of Resistance to Thyroid Hormone Beta
罕见病研究, 2023 The syndrome of resistance to thyroid hormone(RTH) is a rare syndrome caused by the mutation of thyroid hormone receptor (TR) gene, which reduces the sensitivity of target organs to thyroid hormone (TH) and leads to the dysfunction of TH. Thyroid hormone WANG Huangman, SHAN Zhongyan, TENG Xiaochun +2 moredoaj +1 more sourceThyroid Hormone Resistance Syndromes [PDF]
, 2019 Syndromes with impaired sensitivity to thyroid hormone (TH) include three types of resistance to thyroid hormone (RTH) syndromes (RTHβ, RTHα, and nonTR-RTH) and also include patients with defects in TH transport into cells (thyroid hormone cell membrane ...Refetoff, Samuel, Roy E. Weiss, Samuel Refetoff, Weiss, Roy E +3 morecore +1 more sourceEffects of Thyroxine Exposure on Osteogenesis in Mouse Calvarial Pre-Osteoblasts [PDF]
, 2013 The incidence of craniosynostosis is one in every 1,800-2500 births. The gene-environment model proposes that if a genetic predisposition is coupled with environmental exposures, the effects can be multiplicative resulting in severely abnormal phenotypes.Mohammed Elsalanty, Jack C Yu, Cray, JJ, Elsalanty, M, Yu Jack C., James J Cray, Weinberg, SM, Khaksarfard Kameron, Cray, James J., Yu, JC, Khaksarfard, K, Yu, Jack C., Elsalanty, Mohammed, Kameron Khaksarfard, Weinberg Seth M., Weinberg, Seth M., Cray James J., Khaksarfard, Kameron, Seth M Weinberg, Elsalanty Mohammed +19 morecore +1 more sourceWhole-genome sequence-based analysis of thyroid function. [PDF]
, 2015 Normal thyroid function is essential for health, but its genetic architecture remains poorly understood. Here, for the heritable thyroid traits thyrotropin (TSH) and free thyroxine (FT4), we analyse whole-genome sequence data from the UK10K project (N=2 ...Paternoster, Lavinia, Williamson, Kathleen A., Silvia Naitza (186150), Parthiban Vijayarangakannan (16220357), Jouko Lönnqvist (250763), Peter N. Taylor, Crooks, Lucy, Ward, Kirsten, Down, T, UK0K Consortium, Brown, SJ, Sanna, Serena, Walsh, JP, Ewan Birney (7728), Birney, E, Ciampi, A, Dawn Muddyman (7596470), Flyod, James, Sanna, S, Bolton, P, So-Youn Shin (108976), Clement, Gail, Van Kogelenberg, Margriet, Evans, D, Morris, James, Benjamin H. Mullin, Maslen, John, Beales, P, Sadaf Faroogi (16220294), Foley, A. Reghan, Lu Chen (75170), Benjamin H Mullin (16220249), Edkins, Sarah, Flicek, Paul, Nicola Roberts (2465665), Bochukova, E, UK10K Consortium, Alexandros Onoufriadis (16220324), Richard Durbin (2217), Cirak, Sebhattin, Clapham, Peter, Tian Jing (5683679), Surdulescu, Gabriela L., Wang, Guangbiao, Andrew McIntosh (83234), Holmans, Peter Alan, Barroso, Inês, Chatterjee, Krishna, Kate Northstone (74777), Schoenmakers, Nadia, Jamie Bentham (126369), Panicker, V, Davey Smith, George, Kennedy, Karen, Bell, JT, Curtis, D, John P Beilby (16220255), John Maslen (57613), Perry, John R. B., Dunham, I, Christopher S Franklin (16220303), Danecek, Petr, Kogelenberg, Margriet Van, Metrustry, Sarah, MacArthur, Daniel, Jianping Sun (203689), David K Jackson (16220306), Timpson, Nicholas J, Mullin, BH, Stevens, Elizabeth, Antony, Dinu, Lavinia Paternoster (153181), David Curtis (82224), Jie Huang (104235), Memari, Y, Woltersdorf, W, Toniolo, D, Woltersdorf, Wolfram, Andrew D Johnson (7949558), Min, Josine, Lim, Ee M, Blackwood, Douglas, Bounds, R, Mangino Massimo (16220315), Julia Keogh (16220309), Klaudia Walter, Brown, Suzanne J., Mitchison, Hannah, Walsh, John P, Smith, GD, Aarno Palotie (41342), Day-Williams, Aaron, Karim Oualkacha (698776), Senduran Balasubramaniam (16220273), Holmans, Peter, Pingbo Zhang (467521), Serena Sanna (145737), Stephen Schiffels (16220336), Francesco Cucca (145742), Sebhattin Cirak (16220285), Cosgrove, Catherine, Tom Gaunt, Calissano, M, Bounds, Rebecca, Spector, Tim, Wilson, SG, Barrett, Jeffrey C., Flicek, P, Balasubramaniam, S, Consortium, U, Ian N M Day (16220291), Tachmazidou, Ionna, Shane McCarthy (67911), ?, ?, Hysi, Pirro, Shoumo Bhattacharya (126386), Campbell, Purdey J., Michela Traglia (123821), Sun, Jianping, Yang, Jian, Hart, Deborah, Min, J, Wilson, Scott G, Andrew D. Johnson, Daniela Toniolo, Matthias Geihs (4445731), Ciampi, Antonio, McQuillin, Andrew, McKechanie, Andrew G., Sally I Sharp (16220342), Ionna Tachmazidou (16220351), Taylor, Peter N, Dayan, Colin M., Steve E Humphries (13598860), Frank Dudbridge, Roberts, Nicola, Kathleen A Williamson (16220366), Yasin Memari, Rehnström, Karola, Cox, T, Chris Joyce (8053256), John P. Beilby, Du, Y, James Flyod (16220300), Cosgrove, C, Peter McGuffin (51507), Zheng, Hou Feng, Peter Scambler (192613), Matthew E Hurles (9130769), Jackson, David K., Yuanping Du (2577718), Eleftheria Zeggini, Marchini, Jonathan, Bentham, J, Cox, Tony, Guo, Xueqin, Guy Coates (16220288), George Davey Smith, Huang, J, Coates, G, Liren Huang (14079870), Chen, Lu, Traglia, Michela, Catherine Cosgrove (126371), Beate St Pourcian (16220348), Panicker, Vijay, Gabriela L. Surdulescu, Caroline Relton (3457379), Stephen O'Rahilly (2152), Francesco Muntoni (228210), Howie, Bryan, Turki, SA, Nicholas J. Timpson, Eleftheria Zeggini (21702), Memari, Yasin, Collier, David, Chatterjee, K, Silvia Naitza, Barnes, Michael R, Detelina Grozeva (4799844), Xu, Chang Jiang, Ana Valdes (169895), Walsh, John P., Ian Dunham (6370), O'Rahilly, Stephen, Vijay Panicker (271958), Liu, Ryan, Wain, Louise V., Naitza, S, Lek, Monkol, Sarah Metrustry (346411), Edkins, S, Walter, Klaudia, Serra, Eva, Danecek, P, Guangbiao Wang (3531449), Collier, D, Yu Wang (12152), Faroogi, Sadaf, Walters, James Tynan Rhys, Keogh, Julia, Carl Anderson (3469508), Antony, D, James Morris (202908), Robert K Semple (9104531), Taylor, Peter N., Shihab, Hashem A., Jennie Hui, Scambler, Peter, Daniel Geschwind (406536), Raymond, Lucy, Vincenzo Forgetta (756326), Karola Rehnström (177204), Artigas, Maria Soler, Ee M Lim (16220258), Schiffels, Stephen, Whyte, Tamieka, Oualkacha, Karim, Bhattacharya, Shoumo, Peter Clapham (14318958), O'Donovan, Michael Conlon, Fend Zhang (16220372), Brent Richards, J., Deborah Hart (567519), Crispian Wilson (16220369), Walters, James T.R., Allan Daly (16063727), Yuan, Wei, Northstone, Kate, Spasic-Boskovic, Olivera, Traglia, M, Yuan, W, Grundberg, E, Anderson, C, Michael J Owen (12557113), Curran, S, Jeffrey C Barrett (12832976), Wolfram Woltersdorf (16220264), Du, Yuanping, Taylor, PN, Antonio Ciampi (144369), Pimphen Charoen (252479), Wei Yuan (64653), Margarida Lopes (10108799), Chew, S, Kirsten Ward (3417971), Mattia Calissano (489523), Mullin, Benjamin H., Liang, Jieqin, Goncalo Abecasis (3159045), Chris Boustred (16220282), Gail Clement (211087), Graham R S Ritchie (16220333), Breen, Gerome, Shin, So Youn, Evans, David, Dayan, Colin M, Shelby Chew (16220240), Muntoni, Francesco, Andrew McQuillin (82209), Gaunt, Tom, Semple, Robert K., Saeed Al Turki (16220270), Zhang, Fend, Day-Williams, A, Ellis, P, Lee, Irene, Lim, Ee M., Turki, Saeed Al, Coates, Guy, Xu, ChangJiang, Lorraine Southam (802549), Thomas Keane (225299), Cirak, S, Campbell, Purdey J, Monkol Lek (287026), Eleonora Porcu, Surdulescu, GL, Hugh Gurling (237385), Hong Lin (46089), David Skuse (184848), Anderson, Carl, Klaudia Walter (5179), Louise V Wain (7795652), Celia Greenwood (650459), Tim Hubbard (26509), Daniel Lawson (5778), Curran, Sarah, Olli Pietilainen (5482613), Mathieson, Iain, Schmidts, Miriam, Lotchkova, Valentina, Shihab, Hashem A, Cucca, Francesco, Timpson, Nicholas J., David Collier (231300), Purdey J Campbell (16220243), Schlessinger, David, Vijayarangakannan, Parthiban, Lin, Hong, Chen, L, Richards, Brent, Sharp, Sally I., Hannah Mitchison (4520041), Lucy Crooks (3622238), Sarah Edkins (203067), Ayub, M, Shane Mccarthy, Vincent Plagnol (50600), Bobrow, Martin, Day, Ian N M, Dunham, Ian, Jim Stalker (84935), Visscher, Peter M., Moayyeri, Alireza, Jonathan Marchini (21497), Lydia Quaye (262803), Bhattacharya, S, John P Walsh (14569251), Purdey J. Campbell, Stalker, Jim, Richard Anney (394309), Peter Ellis (15708), Caroline Relton, Hou-Feng Zheng (152901), Brown, Suzanne J, Lucy Raymond (16220330), Elin Grundberg, Peter N Taylor (4001915), Hubbard, Tim, The Ukk Consortiumz, Johnson, Andrew D., Genevieve Lachance (13615720), Muhammad Ayub (582672), Johnson, Andrew D, Frank Dudbridge (102283), Tim Spector, Jamshidi, Yalda, Wheeler, Elanor, Maria Soler Artigas (5649805), Margriet Van Kogelenberg (16220354), Beilby, John P, Jun Wang (5906), Craddock, Nicholas John, Anney, Richard, Inês Barroso (2144), Gurling, Hugh, Lim, EM, Richards, J Brent, Douglas Blackwood (3464456), Skuse, David, O'Donnovan, Michael, Forgetta, V, Crooks, L, Paunio, Tiina, Clement, G, Suzanne J. Brown, Xiaosen Guo (7389236), David B Savage (12418102), Barnes, Michael R., Serena Sanna, Balasubramaniam, Senduran, Colin M Dayan (13752040), Greenwood, Celia, Joyce, Chris, Yasin Memari (108933), Martin Bobrow (316697), Ryan Liu (10197214), Naitza, Silvia, Iain Mathieson (113513), Beales, Phil, Alireza Moayyeri (2885609), Bobrow, M, Josine Min, Bentham, Jamie, Wilson, Scott G., Marenne, Gaëlle, Keren Carss (6062465), Francesco Cucca, Paul Flicek (77154), Hywel Williams (411033), Soranzo, N, Quaye, Lydia, Patrick Bolton (184868), Carss, Keren, Wang, Yu, Kemp, John, Craddock, N, Rebecca Bounds (6260324), Geschwind, Daniel, Petr Danecek, Relton, Caroline, Pourcian, Beate St, Zhang, Pingbo, Palotie, Aarno, Fatemifar, G, Zeggini, E, Tom Gaunt (448068), Valentina Lotchkova (16220312), Grundberg, Elin, Bryan Howie (218844), Owen, Michael J., John Kemp (7068905), Eleonora Porcu (186153), Charoen, Pimphen, Irene Lee (1882873), Zheng, Hou-Feng, Daly, Allan, Felicity Payne (262626), Yingrui Li (149030), Ritchie, Graham R.S., Anja Kolb-Kokocinski (15987), George Davey Smith (82619), Vincenzo Forgetta, Massimo, Mangino, Elin Grundberg (116416), Daniela Toniolo (74637), Zeggini, Eleftheria, Southam, Lorraine, Artigas, MS, Hou-feng Zheng, Spector, T, Chew, Shelby, Suzanne J Brown (16220246), Elizabeth Stevens (435621), Jordana T. Bell, James T R Walters (12040898), Celia Greenwood, Blackwood, D, Gaëlle Marenne (456680), Greenwood, C, Barnes, MR, Walter, K, Boustred, C, Jane Kaye (377943), Beilby, JP, Surdulescu, Gabriela L, Brent Richards (6033746), Shelby Chew, Nicholas J Timpson (11501651), Clair, David St, Griffin, Heather, Day, Ian N.M., Elena Bochukova (16220279), Pietilainen, Olli, Curtis, David, Victoria Parker (7055579), Birney, Ewan, Langford, Cordelia, Keane, Thomas, Davey Smith, G, ChangJiang Xu (144365), Williams, Hywel, Olivera Spasic-Boskovic (6881501), Perry, John R.B., Richards, J. Brent, Clapham, P, Johnson, AD, Small, Kerrin, Huang, Jie, Kerrin Small (174643), Wang, Jun, Michael O'Donnovan (16220321), Tamieka Whyte (16220363), Savage, David B., Forgetta, Vincenzo, Richard Durbin, Charoen, P, Daly, A, Kaye, Jane, David St Clair (16220345), Li, Rui, Hashem A Shihab (16220252), Ellis, Peter, Down, Thomas, Cordelia Langford (77345), David Schlessinger, Franklin, Christopher S., J Brent Richards (16220267), Timpson, NJ, Tony Cox (45594), Michael A Quai (16220327), Martin D Tobin (7795649), Ayub, Muhammad, Mullin, Benjamin H, Toniolo, Daniela, Walters, James T R, Plagnol, Vincent, Porcu, Eleonora, John P. Walsh, Hendricks, Audrey, Muddyman, Dawn, Jie Huang, Payne, Felicity, Susan Ring (119324), Phil Beales (16220276), Fatemifar, Ghazaleh, Shihab, HA, Owen, Michael John, Lawson, Daniel, Parr, Jeremy R., Elanor Wheeler (16220360), Campbell, PJ, Nicole Soranzo (12361), J. Brent Richards, Bolton, Patrick, Josine Min (3457367), Smith, George Davey, David Evans (41081), Kim Wong (262770), Dawn Muddyman, Futema, Marta, Lopes, Margarida, Porcu, E, Peter M Visscher (12557107), Nadia Schoenmakers (3929258), Wolfram Woltersdorf, Perry, JRB, Michael R Barnes (7949537), Grozeva, Detelina, Scott G Wilson (13533670), Geihs, Matthias, Onoufriadis, Alexandros, Soranzo, Nicole, Goncalo Abecasis, McCarthy, Shane, Muddyman, D, David Schlessinger (2399), Gabriela L Surdulescu (3810061), Lönnqvist, Jouko, Daniel MacArthur (3577367), Hashem A. Shihab, Quail, Michael A., Krishna Chatterjee (7753232), Jeremy R Parr (5622233), Andrew G McKechanie (16220318), McIntosh, Andrew, Jennie Hui (220409), Audrey Hendricks (6260327), Wei Yuan, Scott G. Wilson, Tim Spector (153290), Boustred, Chris, Parker, Victoria, Petr Danecek (570012), Jordana T Bell (16220261), Ghazaleh Fatemifar (206274), Huang, Liren, Gaunt, T, Jian Yang (12136), Jaana Suvisaari (364516), Nicole Soranzo, Shin, So-Youn, Guo, Xiaosen, Li, Yingrui, Xueqin Guo (783421), Cucca, F, Miriam Schmidts (166276), Yalda Jamshidi (262159), Dudbridge, F, Hui, Jennie, Nick Craddock (170215), Hui, J, Rui Li (4631), Gerome Breen (15025), Ring, Susan, Gallagher, Louise, Zheng, HF, Louise Gallagher (3879160), Barroso, I, Fitzpatrick, David R., Eva Serra (16220339), John R. B. Perry, Flyod, J, Aaron Day-Williams (174547), Breen, G, Calissano, Mattia, Marta Futema (12325427), Zheng, H-F, Anney, R, Pirro Hysi (247490), Dinu Antony (572707), Schlessinger, D, Jieqin Liang (3134550), Bell, Jordana T., Bochukova, Elena, McCarthy, S, Kalliope Panoutsopoulou (174570), Heather Griffin (295945), Thomas Down (174882), Wong, Kim, Perry, John RB, Perry, John R B, Ee M. Lim, David R Fitzpatrick (16220297), Abecasis, G, Suvisaari, Jaana, Fitzpatrick, DR, Hurles, Matthew E., Quai, Michael A., Ritchie, Graham R S, Lachance, Genevieve, Wilson, Crispian, Durbin, R, Brent Richards, J, Michela Traglia, Peter Holmans (28936), Abecasis, Goncalo, Vijay Panicker, Durbin, Richard, John R B Perry (3810094), Beilby, John P., Colin M. Dayan, Pimphen Charoen, Kolb-Kokocinski, Anja, Tiina Paunio (130281), Day, INM, Barrett, JC, Tobin, Martin D., Jing, Tian, Faroogi, S, Dudbridge, Frank, Valdes, Ana, Richards, JB, McGuffin, Peter, Karen Kennedy (2088841), Michael R. Barnes, Craddock, Nick, Panoutsopoulou, Kalliope, Relton, C, Sarah Curran (184863), Humphries, Steve E., Bell, Jordana T, Dayan, CM, A. Reghan Foley (10279212), Carss, K +635 morecore +1 more sourceMonocarboxylate transporter 8 modulates the viability and invasive capacity of human placental cells and fetoplacental growth in mice [PDF]
, 2013 Monocarboxylate transporter 8 (MCT8) is a well-established thyroid hormone (TH) transporter. In humans, MCT8 mutations result in changes in circulating TH concentrations and X-linked severe global neurodevelopmental delay.Laurence S Loubière, Visser, Theo, Whitley G.S., Elisavet Vasilopoulou (420760), Loubière Laurence S., Darras, V.M. (Veerle), Loubière L.S., Darras, VM, Kilby, MD, Trajkovic-Arsic, M. (Marija), Christopher J McCabe, Guy S Whitley, Heike Heuer (420762), Heuer, H, Marija Trajkovic-Arsic, Guy S. Whitley (420764), Visser T.J., McCabe, Christopher, Gendie E. Lash (420763), Visser Theo J., Theo J. Visser (280338), Marija Trajkovic-Arsic (155746), Kilby, Mark, Franklyn, J.A. (Jayne), Mark D. Kilby (420766), Loubière, LS, Trajkovic-Arsic, M, Lash G.E., Loubière, L.S. (Laurence), Whitley Guy S., Darras, Veerle, Jayne A Franklyn, Christopher J. McCabe (420765), Loubière, Laurence, Heuer Heike, Darras V.M., Jayne A. Franklyn (236549), Whitley, Guy, Lash, G.E. (Gendie), Franklyn, Jayne, Gendie E Lash, Whitley, GS, Vasilopoulou, E, McCabe, CJ, Franklyn Jayne A., Franklyn J.A., Shiao Y Chan, Visser, TJ, Chan, SY, Veerle M Darras, Chan, Shiao, Elisavet Vasilopoulou, Heuer H., Vasilopoulou, Elisavet, Vasilopoulou Elisavet, Heuer, Heike, Lash Gendie E., Visser, T.J. (Theo), Heike Heuer, Shiao Y. Chan (420767), McCabe, C.J. (Christopher), Lash, GE, Chan S.Y., Vasilopoulou, E. (Elisavet), Kilby, M.D. (Mark), Trajkovic-Arsic M., Veerle M. Darras (104459), Heuer, H. (Heike), Chan, S.Y. (Shiao), Laurence S. Loubière (420761), McCabe Christopher J., Whitley, G.S. (Guy), Mark D Kilby, Darras Veerle M., McCabe C.J., Trajkovic-Arsic, Marija, Kilby Mark D., Franklyn, JA, Trajkovic-Arsic Marija, Chan Shiao Y., Lash, Gendie, Vasilopoulou E., Theo J Visser, Kilby M.D. +83 morecore +1 more sourceThyroid hormone transporters-functions and clinical implications [PDF]
, 2015 The cellular influx and efflux of thyroid hormones are facilitated by transmembrane protein transporters. Of these transporters, monocarboxylate transporter 8 (MCT8) is the only one specific for the transport of thyroid hormones and some of their ...Ana Guadaño-Ferraz, Juan Bernal, Bernal, Juan, Beatriz Morte, Morte, Beatriz, Guadaño-Ferraz, Ana +5 morecore +1 more source
