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353. Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

Author

Hufnagel, Robert B, primary, Arno, Gavin, additional, Hein, Nichole D, additional, Hersheson, Joshua, additional, Prasad, Megana, additional, Anderson, Yvonne, additional, Krueger, Laura A, additional, Gregory, Louise C, additional, Stoetzel, Corinne, additional, Jaworek, Thomas J, additional, Hull, Sarah, additional, Li, Abi, additional, Plagnol, Vincent, additional, Willen, Christi M, additional, Morgan, Thomas M, additional, Prows, Cynthia A, additional, Hegde, Rashmi S, additional, Riazuddin, Saima, additional, Grabowski, Gregory A, additional, Richardson, Rudy J, additional, Dieterich, Klaus, additional, Huang, Taosheng, additional, Revesz, Tamas, additional, Martinez-Barbera, J P, additional, Sisk, Robert A, additional, Jefferies, Craig, additional, Houlden, Henry, additional, Dattani, Mehul T, additional, Fink, John K, additional, Dollfus, Helene, additional, Moore, Anthony T, additional, and Ahmed, Zubair M, additional

Published
2014
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354. Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations

Author

Simpkin, Arabella, primary, Cochran, Elaine, additional, Cameron, Fergus, additional, Dattani, Mehul, additional, de Bock, Martin, additional, Dunger, David B., additional, Forsander, Gun, additional, Guran, Tulay, additional, Harris, Julie, additional, Isaac, Iona, additional, Hussain, Khalid, additional, Kleta, Robert, additional, Peters, Catherine, additional, Tasic, Velibor, additional, Williams, Rachel, additional, Yap Kok Peng, Fabian, additional, O''Rahilly, Stephan, additional, Gorden, Philipp, additional, Semple, Robert K., additional, and Bockenhauer, Detlef, additional

Published
2014
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363. Thyroid Surgery in Children: Clinical Outcomes

Author

Decoppi, Paolo, primary, Pierro, Agostino, primary, Brain, Caroline, primary, Hindmarsh, Peter, primary, Butler, Gary, primary, Dattani, Mehul, primary, Spoudeas, Helen, primary, Kurzawinski, Tom, primary, and Sinha, C., additional

Published
2014
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368. Inaccuracies in plasma oxytocin extraction and enzyme immunoassay techniques

Author

Gan, Hoong-Wei, Leeson, Clare, Aitkenhead, Helen, and Dattani, Mehul

Abstract

Numerous studies have reported extensive associations between plasma oxytocin (OXT) concentrations and various human physiological and neurobehavioral processes. Measurement of OXT is fraught with difficulty due to its low molecular weight and plasma concentrations, with no consensus as to the optimal conditions for pre-analytical sample extraction, standards for immunoassay validation or the ideal protease inhibitors to prevent OXT degradation. Previous attempts at determining the efficacy of various purification techniques such as solid phase extraction (SPE) or ultrafiltration have only utilized human plasma samples, making it difficult to dissect out whether the effect of interference comes from the extraction process itself or cross-reactivity with other proteins. By testing these on pure OXT solutions, we demonstrate poor recovery efficacy and reliability of reversed phase SPE (maximum 58.1%) and ultrafiltration (<1%) techniques, and the potential for the former to introduce interference into enzyme immunoassay (EIA) measurements. The clonality of antibodies used in EIA kits also potentially contributes to the differences in the readings obtained, and we validate an EIA kit which did not require pre-analytical sample extraction with low cross-reactivity and high reliability (intraclass correlation coefficient 0.980 (95% CI 0.896–0.999). Biochemical techniques used for measuring plasma OXT concentrations must therefore be internally validated prior to translation into clinical studies.

Published
2023
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369. Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction

Author

McCabe, Mark James, Gaston-Massuet, Carles, Tziaferi, Vaitsa, Gregory, Louise C., Alatzoglou, Kyriaki S., Puelles, Eduardo, Gerrelli, Dianne, Farooqi, I. Sadaf, Raza, Jamal, Walker, Joanna, Kavanaugh, Scott I., Tsai, Pei-San, Pitteloud, N., Martínez-Barberá, Juan P., Signore, Massimo, Dattani, Mehul T., McCabe, Mark James, Gaston-Massuet, Carles, Tziaferi, Vaitsa, Gregory, Louise C., Alatzoglou, Kyriaki S., Puelles, Eduardo, Gerrelli, Dianne, Farooqi, I. Sadaf, Raza, Jamal, Walker, Joanna, Kavanaugh, Scott I., Tsai, Pei-San, Pitteloud, N., Martínez-Barberá, Juan P., Signore, Massimo, and Dattani, Mehul T.

Abstract

Context: Fibroblast growth factor (FGF) 8 is important for GnRH neuronal development with human mutations resulting in Kallmann syndrome. Murine data suggest a role for Fgf8 in hypothalamo- pituitary development; however, its role in the etiology of wider hypothalamo-pituitary dysfunction in humans is unknown. Objective: The objective of this study was to screen for FGF8 mutations in patients with septo-optic dysplasia (n = 374) or holoprosencephaly (HPE)/midline clefts (n = 47). Methods: FGF8 was analyzed by PCR and direct sequencing. Ethnically matched controls were then screened for mutated alleles (n = 480-686). Localization of Fgf8/FGF8 expression was analyzed by in situ hybridization in developing murine and human embryos. Finally, Fgf8 hypomorphic mice (Fgf8 loxPNeo/-) were analyzed for the presence of forebrain and hypothalamo-pituitary defects. Results: A homozygous p.R189H mutation was identified in a female patient of consanguineous parentage with semilobar HPE, diabetes insipidus, and TSH and ACTH insufficiency. Second, a heterozygous p.Q216E mutation was identified in a female patient with an absent corpus callosum, hypoplastic optic nerves, and Moebius syndrome. FGF8 was expressed in the ventral diencephalon and anterior commissural plate but not in Rathke's pouch, strongly suggesting early onset hypothalamic and corpus callosal defects in these patients. This was consolidated by significantly reduced vasopressin and oxytocin staining neurons in the hypothalamus of Fgf8 hypomorphic mice compared with controls along with variable hypothalamo-pituitary defects and HPE. Conclusion: We implicate FGF8 in the etiology of recessive HPE and potentially septo-optic dysplasia/ Moebius syndrome for the first time to our knowledge. Furthermore, FGF8 is important for the development of the ventral diencephalon, hypothalamus, and pituitary. Copyright © 2011 by The Endocrine Society.

Published
2011

370. Contributors

Author

Achermann, John C., Aiello, Lloyd P., Alexander, Erik K., Allen, Rebecca H., Altshuler, David, Anderson, Mark S., Atkinson, Mark A., Bahn, Rebecca S., Barker, Jennifer M., Basson, Rosemary, Berga, Sarah L., Bhasin, Shalender, Birnbaum, Morris J., Black, Dennis M., Bose, Anirban, Boulton, Andrew J.M., Braunstein, Glenn D., Bremner, William J., Brent, Gregory A., Bringhurst, F. Richard, Brownlee, Michael, Bulun, Serdar E., Burant, Charles F., Bushinsky, David A., Cone, Roger D., Cooke, David W., Cooper, Mark E., Cryer, Philip E., Dattani, Mehul T., Davies, Terry F., de Paula, Francisco J.A., Demay, Marie B., DiVall, Sara A., Elmquist, Joel K., Filetti, Sebastiano, Gevers, Evelien F., Ghigo, Ezio, Goldberg, Anne C., Goldberg, Ira J., Gottlieb, Peter A., Grinspoon, Steven K., Grumbach, Melvin M., Hay, Ian D., Hayes, Frances J., Hickey, Martha, Hirschhorn, Joel N., Ho, Ken K.Y., Hughes, Ieuan A., Kaiser, Ursula, Kaunitz, Andrew M., Klein, Samuel, Kleinberg, David, Kronenberg, Henry M., Lamberts, Steven W.J., Lanfranco, Fabio, Larsen, P. Reed, Laurberg, Peter, Lazar, Mitchell A., Loriaux, Lynn, Low, Malcolm J., Majithia, Amit R., Marx, Stephen J., Matsumoto, Alvin M., Melmed, Shlomo, Monk, Rebeca D., Murray, Robert D., Newell-Price, John D.C., Nitsche, Joshua F., Öberg, Kjell, Plutzky, Jorge, Polonsky, Kenneth S., Radovick, Sally, Robinson, Alan G., Romijn, Johannes A., Rosen, Clifford J., Salvatore, Domenico, Schlumberger, Martin-Jean, Semenkovich, Clay F., Sluss, Patrick M., Stewart, Paul M., Strasburger, Christian J., Styne, Dennis M., van den Beld, Annewieke W., Vella, Adrian, Verbalis, Joseph G., Vinik, Aaron I., Weetman, Anthony P., Wells, Samuel A., Jr., and Young, William F., Jr.

Published
2016
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371. Contributors

Author

Aiello, Lloyd Paul, Alatzoglou, Kyriaki S., Alexander, Erik K., Allan, Carolyn A., Allolio, Bruno, Amino, Nobuyuki, Anawalt, Bradley D., Angelos, Peter, Arboleda, Valerie A., Auchus, Richard J., Axelrod, Lloyd, Bahn, Rebecca S., Baker, MD, PhD, FRACP, H.W. Gordon, Barak, Shlomi, Barnes, Randall B., Barthel, Andreas, Bastepe, Murat, Beardsley, Emma K., Beck-Peccoz, Paolo, Bell, Graeme I., Bi, Wenya Linda, Bilezikian, John P., Blum, Manfred, Bonnema, Steen J., Bornstein, Stefan R., Bouillon, Roger, Boulton, Andrew J.M., Braunstein, Glenn D., Bringhurst, F. Richard, Broekmans, Frank J., Bronstein, Marcello D., Brown, Edward M., Brown, Wendy A., Bulun, Serdar E., Burch, Henry B., Burger, Henry G., Burney, Richard O., Burt, Morton G., Cagliero, Enrico, Callender, Glenda G., Avancini Caramori, Maria Luiza, Carey, Robert M., Carling, Tobias, Cavagnini, Francesco, Cavallerano, Jerry D., Challet, Etienne, Chan, Shu Jin, Chang, R. Jeffrey, Chapurlat, Roland D., Chatterjee, V. Krishna, Chiofalo, Francesco, Chiovato, Luca, Cho, Kyung J., Christison-Lagay, Emily, Christophe, Daniel, Chrousos, George P., Cidlowski, John A., Clemmons, David R., Considine, Robert V., Conti, Marco, Copinschi, Georges, Copps, Kyle D., Cowley, Michael A., Cuttler, Leona, Dattani, Mehul T., Davis, Stephen N., De Felice, Mario, De Groot, Leslie J., de Kretser, David M., DeFronzo, Ralph A., Delli, Ahmed J., Demay, Marie B., Dennedy, Michael C., Di Lauro, Roberto, Dineen, Rosemary, Ding, Su Ann, Dinneen, Sean F., Drucker, Daniel J., Dumont, Jacques E., Dungan, Kathleen M., Dunn, Ian F., Econs, Michael J., Ehrmann, David A., Eisenhofer, Graeme, Ergun-Longmire, Berrin, Eugster, Erica A., Farooqi, Sadaf I., Fassnacht, Martin, Fauser, Bart C.J.M., Fenzi, Gianfranco, Ferrannini, Ele, Findlay, David M., Finlayson, Courtney Anne, Fisher, Delbert A., Francis, Isaac R., Freeman, Mason W., Frohman, Lawrence A., Frydenberg, Mark, Fuller, Peter J., Gaglia, Jason L., Galizia, Gianluigi, Gardella, Thomas J., Garvey, Katharine C., Genant, Harry K., German, Michael S., Gevers, Evelien F., Giraldi, Francesca Pecori, Giudice, Linda C., Giustina, Andrea, Glasier, Anna, Glorieux, Francis H., Goldfine, Allison B., Gooren, Louis J., Gordon, David F., Gregerson, Karen A., Grogan, Raymon H., Gross, Milton D., Grossman, Ashley B., Gruber, Matthias, Guimarães, Valeria C., Gurnell, Mark, Haddad, Nadine G., Haisenleder, Daniel J., Handelsman, David J., Hanks, John B., Hannon, Mark J., Harno, Erika, Hebrok, Matthias, Hedger, Mark P., Hegedüs, Laszlo, Heindel, Jerrold J., Hernandez, Arturo, Herndon, Maria K., Ho, Ken K.Y., Horseman, Nelson D., Hughes, Ieuan A., Hupfeld, Christopher J., Hussain, Hero K., Iodice, Valeria, James, Benjamin C., Jameson, J. Larry, Jones, Glenville, Josso, Nathalie, Jüppner, Harald, Juszczak, Agata, Kalish, Jeffrey, Kaplan, Edwin L., Karavitaki, Niki, Karczewska-Kupczewska, Monika, Khattab, Ahmed, Klein, David C., Klein, Ronald, Kleinau, Gunnar, Koontz, Michaela, Kopchick, John J., Kopp, Peter, Kowalska, Irina, Krane, Stephen M., Krohn, Knut, Kronenberg, Henry M., Lamos, Elizabeth M., Lania, Andrea, Lau, Sue Lynn, Laws, Edward R., Jr., Lazarus, John H., Learoyd, Diana L., Lebovitz, Harold E., Lenmark, Åke, List, Edward O., Loveland, Kate, Low, David A., Macchia, Paolo E., Maclaren, Noel K., Madeiros-Neto, Geraldo, Maenhaut, Carine, Maes, Christa, Main, Katharina M., Malchoff, Carl D., Malchoff, Diana M., Malik, Rayaz A., Mandel, Susan J., Mantzoros, Christos S., Maratos-Flier, Eleftheria, Marino, Michele, Marshall, John C., Martin, T. John, Martin, Thomas F.J., Mathias, Christopher J., McGee, Elizabeth A., McKenzie, Travis, McLachlan, Robert I., Meier, Juris J., Melmed, Shlomo, Metzger, Boyd E., Meyer-Bahlburg, Heino F.L., Millar, Robert P., Miller, Walter L., Misra, Madhusmita, Molitch, Mark E., Moravek, Molly B., Morris, Damian G., Nagar, Sapna, Nakamoto, Jon, New, Maria I., Nieman, Lynnette K., Nilson, John H., Ntali, Georgia, O’Bryan, Moira, O’Rahilly, Stephen, Öberg, Kjell, Olefsky, Jerrold M., Olson, Matthew T., Pacak, Karel, Pacini, Furio, Sr., Padia, Shetal H., Paschke, Ralf, Pasquel, Francisco J., Perry, Katherine Wesseling, Persani, Luca, Philipson, Louis H., Pina, Christian, Pomposelli, Frank B., Jr., Potts, John T., Jr., Quigley, Charmian A., Quinkler, Marcus O., Quirk, Christine Campion, Rajpert-De Meyts, Ewa, Ravussin, Eric, Ray, David W., Refetoff, Samuel, Retnakaran, Ravi, Rey, Rodolfo A., Rhodes, Christopher J., Ridgway, E. Chester, Risbridger, Gail P., Rizza, Robert A., Robinson, Bruce G., Roger, Pierre P., Rosenfeld, Michael G., Rosenfield, Robert L., Rossing, Peter, Rubin, Robert T., Rubio, Ileana G.S., Ruderman, Neil B., Russo, Jose, Russo, Irma H., Salusky, Isidro B., Santoro, Nanette, Scully, Kathleen M., Sexton, Patrick M., Shulman, Gerald I., Silva, Paolo S., Silverberg, Shonni J., Singer, Frederick R., Skakkebaek, Niels E., Skaznik-Wikiel, Malgorzata E., Skowronska-Krawczyk, Dorota, Smith, Carolyn L., Smith, Philip W., Smith, Roger, Smith, Steven R., Snyder, Peter J., St. Germain, Donald L., St-Arnaud, René, Steiner, Donald F., Stewart, Paul M., Strączkowski, Marek, Strauss, Jerome F., III, Styne, Dennis M., Swan, Karena L., Swerdloff, Ronald S., Tacon, Lyndal J., Tello, Javier A., Thakker, Rajesh V., Thompson, Christopher J., Timmers, Henri J.L.M., Toppari, Jorma, Traub, Michael L., Tsoukas, Michael A., Udelsman, Robert, Umpierrez, Guillermo E., Van den Berghe, Greet, Vassart, Gilbert, Vernon, Ashley H., Vilain, Eric, Visser, Theo J., Vitti, Paolo, Walford, Geoffrey A., Wang, Christina, Weetman, Anthony P., Weigel, Nancy L., Weir, Gordon C., Weiss, Roy E., White, Anne, White, Kenneth E., White, Morris F., Whyte, Michael P., Wiersinga, Wilmar M., Willenberg, Holger S., Wolfsdorf, Joseph I., Wondisford, Fredric E., Wong, Ka Kit, Wysolmerski, John J., Yau, Mabel, Young, Morag J., Younk, Lisa M., Yu, Run, Yuen, Tony, Zeiger, Martha A., Zinman, Bernard, and Zoeller, R. Thomas

Published
2016
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372. An Adult Female With Resistance to Thyroid Hormone Mediated by Defective Thyroid Hormone Receptor α

Author

Moran, Carla, primary, Schoenmakers, Nadia, additional, Agostini, Maura, additional, Schoenmakers, Erik, additional, Offiah, Amaka, additional, Kydd, Anna, additional, Kahaly, George, additional, Mohr-Kahaly, Susan, additional, Rajanayagam, Odelia, additional, Lyons, Greta, additional, Wareham, Nicholas, additional, Halsall, David, additional, Dattani, Mehul, additional, Hughes, Stephen, additional, Gurnell, Mark, additional, Park, Soo-Mi, additional, and Chatterjee, Krishna, additional

Published
2013
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373. Sox2+ Stem/Progenitor Cells in the Adult Mouse Pituitary Support Organ Homeostasis and Have Tumor-Inducing Potential

Author

Andoniadou, Cynthia Lilian, primary, Matsushima, Danielle, additional, Mousavy Gharavy, Seyedeh Neda, additional, Signore, Massimo, additional, Mackintosh, Albert Ian, additional, Schaeffer, Marie, additional, Gaston-Massuet, Carles, additional, Mollard, Patrice, additional, Jacques, Thomas Stanley, additional, Le Tissier, Paul, additional, Dattani, Mehul Tulsidas, additional, Pevny, Larysa Halyna, additional, and Martinez-Barbera, Juan Pedro, additional

Published
2013
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374. ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies

Author

Webb, Emma A., primary, AlMutair, Angham, additional, Kelberman, Daniel, additional, Bacchelli, Chiara, additional, Chanudet, Estelle, additional, Lescai, Francesco, additional, Andoniadou, Cynthia L., additional, Banyan, Abdul, additional, Alsawaid, Al, additional, Alrifai, Muhammad T., additional, Alahmesh, Mohammed A., additional, Balwi, M., additional, Mousavy-Gharavy, Seyedeh N., additional, Lukovic, Biljana, additional, Burke, Derek, additional, McCabe, Mark J., additional, Kasia, Tessa, additional, Kleta, Robert, additional, Stupka, Elia, additional, Beales, Philip L., additional, Thompson, Dorothy A., additional, Chong, W. Kling, additional, Alkuraya, Fowzan S., additional, Martinez-Barbera, Juan-Pedro, additional, Sowden, Jane C., additional, and Dattani, Mehul T., additional

Published
2013
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375. Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations

Author

Kido, Yasuhiro, primary, Gordon, Christopher T., additional, Sakazume, Satoru, additional, Bdira, Eya Ben, additional, Dattani, Mehul, additional, Wilson, Louise C., additional, Lyonnet, Stanislas, additional, Murakami, Nobuyuki, additional, Cunningham, Michael L., additional, Amiel, Jeanne, additional, and Nagai, Toshiro, additional

Published
2013
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377. Rare variants in single-minded 1 (SIM1) are associated with severe obesity

Author

Ramachandrappa, Shwetha, primary, Raimondo, Anne, additional, Cali, Anna M.G., additional, Keogh, Julia M., additional, Henning, Elana, additional, Saeed, Sadia, additional, Thompson, Amanda, additional, Garg, Sumedha, additional, Bochukova, Elena G., additional, Brage, Soren, additional, Trowse, Victoria, additional, Wheeler, Eleanor, additional, Sullivan, Adrienne E., additional, Dattani, Mehul, additional, Clayton, Peter E., additional, Datta, Vippan, additional, Bruning, John B., additional, Wareham, Nick J., additional, O’Rahilly, Stephen, additional, Peet, Daniel J., additional, Barroso, Ines, additional, Whitelaw, Murray L., additional, and Farooqi, I. Sadaf, additional

Published
2013
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378. Structural Pituitary Abnormalities Associated With CHARGE Syndrome

Author

Gregory, Louise C., primary, Gevers, Evelien F., additional, Baker, Joanne, additional, Kasia, Tessa, additional, Chong, Kling, additional, Josifova, Dragana J., additional, Caimari, Maria, additional, Bilan, Frederic, additional, McCabe, Mark J., additional, and Dattani, Mehul T., additional

Published
2013
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381. Variations inPROKR2, But NotPROK2, Are Associated With Hypopituitarism and Septo-optic Dysplasia

Author

McCabe, Mark J., primary, Gaston-Massuet, Carles, additional, Gregory, Louise C., additional, Alatzoglou, Kyriaki S., additional, Tziaferi, Vaitsa, additional, Sbai, Oualid, additional, Rondard, Philippe, additional, Masumoto, Koh-hei, additional, Nagano, Mamoru, additional, Shigeyoshi, Yasufumi, additional, Pfeifer, Marija, additional, Hulse, Tony, additional, Buchanan, Charles R., additional, Pitteloud, Nelly, additional, Martinez-Barbera, Juan-Pedro, additional, and Dattani, Mehul T., additional

Published
2013
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382. Loss-of-function mutations in IGSF1 cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement

Author

Schoenmakers, Nadia, primary, Sun, Yu, additional, Bak, Beata, additional, van, Trotsenburg Paul, additional, Oostdyk, Wilma, additional, Voshol, Peter, additional, Persani, Luca, additional, Davis, Timothy, additional, le, Tissier Paul, additional, Gharavy, Neda, additional, Appelman-Dijkstra, Natasha, additional, Pereira, Alberto, additional, den Dunnen, Johan, additional, Breuning, Martijn, additional, Hennekam, Raoul, additional, Chatterjee, V Krishna, additional, Dattani, Mehul, additional, Bernard, Daniel, additional, and Wit, Jan-Maarten, additional

Published
2013
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385. HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.

Author

Fang, Qing, Benedetti, Anna Flavia Figueredo, Ma, Qianyi, Gregory, Louise, Li, Jun Z., Dattani, Mehul, Sadeghi‐Nejad, Abdollah, Arnhold, Ivo J.P., Mendonca, Berenice Bilharinho, Camper, Sally A., and Carvalho, Luciani R.

Subjects
PITUITARY dwarfism, NUCLEOTIDE sequencing
Abstract

Introduction Mutations in the transcription factor HESX1 can cause isolated growth hormone deficiency ( IGHD) or combined pituitary hormone deficiency ( CPHD) with or without septo-optic dysplasia ( SOD). So far there is no clear genotype-phenotype correlation. Patients and Results We report four different recessive loss-of-function mutations in three unrelated families with CPHD and no midline defects or SOD. A homozygous p.R160C mutation was found by Sanger sequencing in two siblings from a consanguineous family. These patients presented with ACTH, TSH and GH deficiencies, severe anterior pituitary hypoplasia ( APH) or pituitary aplasia ( PA) and normal posterior pituitary. The p.R160C mutation was previously reported in a case with SOD, CPHD and ectopic posterior pituitary ( EPP). Using exome sequencing, a homozygous p.I26T mutation was found in a Brazilian patient born to consanguineous parents. This patient had evolving CPHD, normal ACTH, APH and normal posterior pituitary ( NPP). A previously reported patient homozygous for p.I26T had evolving CPHD and EPP. Finally, we identified compound heterozygous mutations in HESX1, p.[R159W];[R160H], in a patient with PA and CPHD. We showed that both of these mutations abrogate the ability of HESX1 to repress PROP1-mediated transcriptional activation. A patient homozygous for p.R160H was previously reported in a patient with CPHD, EPP, APH. Conclusion These three examples demonstrate that HESX1 mutations cause variable clinical features in patients, which suggests an influence of modifier genes or environmental factors on the phenotype. [ABSTRACT FROM AUTHOR]

Published
2016
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386. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

Author

Sun, Yu, primary, Bak, Beata, additional, Schoenmakers, Nadia, additional, van Trotsenburg, A S Paul, additional, Oostdijk, Wilma, additional, Voshol, Peter, additional, Cambridge, Emma, additional, White, Jacqueline K, additional, le Tissier, Paul, additional, Gharavy, S Neda Mousavy, additional, Martinez-Barbera, Juan P, additional, Stokvis-Brantsma, Wilhelmina H, additional, Vulsma, Thomas, additional, Kempers, Marlies J, additional, Persani, Luca, additional, Campi, Irene, additional, Bonomi, Marco, additional, Beck-Peccoz, Paolo, additional, Zhu, Hongdong, additional, Davis, Timothy M E, additional, Hokken-Koelega, Anita C S, additional, Del Blanco, Daria Gorbenko, additional, Rangasami, Jayanti J, additional, Ruivenkamp, Claudia A L, additional, Laros, Jeroen F J, additional, Kriek, Marjolein, additional, Kant, Sarina G, additional, Bosch, Cathy A J, additional, Biermasz, Nienke R, additional, Appelman-Dijkstra, Natasha M, additional, Corssmit, Eleonora P, additional, Hovens, Guido C J, additional, Pereira, Alberto M, additional, den Dunnen, Johan T, additional, Wade, Michael G, additional, Breuning, Martijn H, additional, Hennekam, Raoul C, additional, Chatterjee, Krishna, additional, Dattani, Mehul T, additional, Wit, Jan M, additional, and Bernard, Daniel J, additional

Published
2012
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387. SOX2 regulates the hypothalamic-pituitary axis at multiple levels

Author

Jayakody, Sujatha A., primary, Andoniadou, Cynthia L., additional, Gaston-Massuet, Carles, additional, Signore, Massimo, additional, Cariboni, Anna, additional, Bouloux, Pierre M., additional, Le Tissier, Paul, additional, Pevny, Larysa H., additional, Dattani, Mehul T., additional, and Martinez-Barbera, Juan P., additional

Published
2012
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391. Mitochondrial disease and endocrine dysfunction

Author

Chow, Jasmine, Rahman, Joyeeta, Achermann, John C., Dattani, Mehul T., and Rahman, Shamima

Abstract

Respiratory chain function and oxidative phosphorylation are affected in primary mitochondrial diseases, and defects in mitochondrial energy metabolism can lead to multisystem organ dysfunctionAll steroid hormones are synthesized within mitochondria; therefore, lack of ATP generated from mitochondrial dysfunction can lead to impaired hormone productionEndocrine abnormalities are well-recognized complications in mitochondrial disorders, observed most frequently in syndromes associated with large-scale mitochondrial DNA rearrangements such as Kearns–Sayre syndromeHormonal insufficiency from endocrine organ failure can occur, including diabetes mellitus, ovarian failure, adrenal insufficiency and hypoparathyroidismEndocrine dysfunction can be the presenting feature of mitochondrial disease and can precede neurological symptomatologyMitochondrial disease should be suspected in a patient presenting with multisystemic disease and endocrine abnormalities

Published
2017
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394. NovelFGF8Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction

Author

McCabe, Mark J., primary, Gaston-Massuet, Carles, additional, Tziaferi, Vaitsa, additional, Gregory, Louise C., additional, Alatzoglou, Kyriaki S., additional, Signore, Massimo, additional, Puelles, Eduardo, additional, Gerrelli, Dianne, additional, Farooqi, I. Sadaf, additional, Raza, Jamal, additional, Walker, Joanna, additional, Kavanaugh, Scott I., additional, Tsai, Pei-San, additional, Pitteloud, Nelly, additional, Martinez-Barbera, Juan-Pedro, additional, and Dattani, Mehul T., additional

Published
2011
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395. Increased Wingless ( Wnt ) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans

Author

Gaston-Massuet, Carles, primary, Andoniadou, Cynthia Lilian, additional, Signore, Massimo, additional, Jayakody, Sujatha A., additional, Charolidi, Nicoletta, additional, Kyeyune, Roger, additional, Vernay, Bertrand, additional, Jacques, Thomas S., additional, Taketo, Makoto Mark, additional, Le Tissier, Paul, additional, Dattani, Mehul T., additional, and Martinez-Barbera, Juan Pedro, additional

Published
2011
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