Search Results - "Stanescu, Horia C."

A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia by Mencacci, Niccolo E., Rubio-Agusti, Ignacio, Zdebik, Anselm, Asmus, Friedrich, Ludtmann, Marthe H.R., Ryten, Mina, Plagnol, Vincent, Hauser, Ann-Kathrin, Bandres-Ciga, Sara, Bettencourt, Conceição, Forabosco, Paola, Hughes, Deborah, Soutar, Marc M.P., Peall, Kathryn, Morris, Huw R., Trabzuni, Daniah, Tekman, Mehmet, Stanescu, Horia C., Kleta, Robert, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Garavaglia, Barbara, Lohmann, Ebba, Weissbach, Anne, Klein, Christine, Hardy, John, Pittman, Alan M., Foltynie, Thomas, Abramov, Andrey Y., Gasser, Thomas, Bhatia, Kailash P., Wood, Nicholas W.

“…Myoclonus-dystonia (M-D) is a rare movement disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. SGCE mutations represent a…”
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Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure by Reichold, Markus, Klootwijk, Enriko D, Reinders, Joerg, Otto, Edgar A, Milani, Mario, Broeker, Carsten, Laing, Chris, Wiesner, Julia, Devi, Sulochana, Zhou, Weibin, Schmitt, Roland, Tegtmeier, Ines, Sterner, Christina, Doellerer, Hannes, Renner, Kathrin, Oefner, Peter J, Dettmer, Katja, Simbuerger, Johann M, Witzgall, Ralph, Stanescu, Horia C, Dumitriu, Simona, Iancu, Daniela, Patel, Vaksha, Mozere, Monika, Tekman, Mehmet, Jaureguiberry, Graciana, Issler, Naomi, Kesselheim, Anne, Walsh, Stephen B, Gale, Daniel P, Howie, Alexander J, Martins, Joana R, Hall, Andrew M, Kasgharian, Michael, O'Brien, Kevin, Ferreira, Carlos R, Atwal, Paldeep S, Jain, Mahim, Hammers, Alexander, Charles-Edwards, Geoffrey, Choe, Chi-Un, Isbrandt, Dirk, Cebrian-Serrano, Alberto, Davies, Ben, Sandford, Richard N, Pugh, Christopher, Konecki, David S, Povey, Sue, Bockenhauer, Detlef, Lichter-Konecki, Uta, Gahl, William A, Unwin, Robert J, Warth, Richard, Kleta, Robert

“…For many patients with kidney failure, the cause and underlying defect remain unknown. Here, we describe a novel mechanism of a genetic order characterized by…”
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Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C by Sumner, Charlotte J, Landouré, Guida, Zdebik, Anselm A, Martinez, Tara L, Burnett, Barrington G, Stanescu, Horia C, Inada, Hitoshi, Shi, Yijun, Taye, Addis A, Kong, Lingling, Munns, Clare H, Choo, Shelly S, Phelps, Christopher B, Paudel, Reema, Houlden, Henry, Ludlow, Christy L, Caterina, Michael J, Gaudet, Rachelle, Kleta, Robert, Fischbeck, Kenneth H

“…Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal dominant neuropathy characterized by limb, diaphragm and laryngeal muscle weakness. Two unrelated…”
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Epilepsy in kcnj10 morphant zebrafish assessed with a novel method for long-term EEG recordings by Zdebik, Anselm A, Mahmood, Fahad, Stanescu, Horia C, Kleta, Robert, Bockenhauer, Detlef, Russell, Claire

“…We aimed to develop and validate a reliable method for stable long-term recordings of EEG activity in zebrafish, which is less prone to artifacts than current…”
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Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome by Klootwijk, Enriko D, Reichold, Markus, Helip-Wooley, Amanda, Tolaymat, Asad, Broeker, Carsten, Robinette, Steven L, Reinders, Joerg, Peindl, Dominika, Renner, Kathrin, Eberhart, Karin, Assmann, Nadine, Oefner, Peter J, Dettmer, Katja, Sterner, Christina, Schroeder, Josef, Zorger, Niels, Witzgall, Ralph, Reinhold, Stephan W, Stanescu, Horia C, Bockenhauer, Detlef, Jaureguiberry, Graciana, Courtneidge, Holly, Hall, Andrew M, Wijeyesekera, Anisha D, Holmes, Elaine, Nicholson, Jeremy K, O'Brien, Kevin, Bernardini, Isa, Krasnewich, Donna M, Arcos-Burgos, Mauricio, Izumi, Yuichiro, Nonoguchi, Hiroshi, Jia, Yuzhi, Reddy, Janardan K, Ilyas, Mohammad, Unwin, Robert J, Gahl, William A, Warth, Richard, Kleta, Robert

“…The authors describe a five-generation black family with isolated autosomal dominant Fanconi's syndrome and a heterozygous missense mutation in EHHADH, with…”
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Phospholipase A2 Receptor (PLA2R1) Sequence Variants in Idiopathic Membranous Nephropathy by COENEN, Marieke J. H, HOFSTRA, Julia M, MATHIESON, Peter W, BRENCHLEY, Paul E, KLETA, Robert, WETZELS, Jack F. M, RONCO, Pierre, DEBIEC, Hanna, STANESCU, Horia C, MEDLAR, Alan J, STENGEL, Bénédicte, BOLAND-AUGE, Anne, GROOTHUISMINK, Johanne M, BOCKENHAUER, Detlef, POWIS, Steve H

“…The M-type receptor for phospholipase A2 (PLA2R1) is the major target antigen in idiopathic membranous nephropathy (iMN). Our recent genome-wide association…”
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Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency by Bacchelli, Chiara, PhD, Moretti, Federico A., PhD, Carmo, Marlene, PhD, Adams, Stuart, PhD, Stanescu, Horia C., PhD, Pearce, Kerra, PhD, Madkaikar, Manisha, MD, PhD, Gilmour, Kimberly C., PhD, Nicholas, Adeline K., PhD, Woods, C. Geoffrey, MD, PhD, Kleta, Robert, MD, PhD, Beales, Phil L., MD, PhD, Qasim, Waseem, MD, PhD, Gaspar, H. Bobby, MD, PhD

“…Background Signaling through the T-cell receptor (TCR) is critical for T-cell development and function. Linker for activation of T cells (LAT) is a…”
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Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations by Jaureguiberry, Graciana, De la Dure-Molla, Muriel, Parry, David, Quentric, Mickael, Himmerkus, Nina, Koike, Toshiyasu, Poulter, James, Klootwijk, Enriko, Robinette, Steven L, Howie, Alexander J, Patel, Vaksha, Figueres, Marie-Lucile, Stanescu, Horia C, Issler, Naomi, Nicholson, Jeremy K, Bockenhauer, Detlef, Laing, Christopher, Walsh, Stephen B, McCredie, David A, Povey, Sue, Asselin, Audrey, Picard, Arnaud, Coulomb, Aurore, Medlar, Alan J, Bailleul-Forestier, Isabelle, Verloes, Alain, Le Caignec, Cedric, Roussey, Gwenaelle, Guiol, Julien, Isidor, Bertrand, Logan, Clare, Shore, Roger, Johnson, Colin, Inglehearn, Christopher, Al-Bahlani, Suhaila, Schmittbuhl, Matthieu, Clauss, François, Huckert, Mathilde, Laugel, Virginie, Ginglinger, Emmanuelle, Pajarola, Sandra, Spartà, Giuseppina, Bartholdi, Deborah, Rauch, Anita, Addor, Marie-Claude, Yamaguti, Paulo M, Safatle, Heloisa P, Acevedo, Ana Carolina, Martelli-Júnior, Hercílio, dos Santos Netos, Pedro E, Coletta, Ricardo D, Gruessel, Sandra, Sandmann, Carolin, Ruehmann, Denise, Langman, Craig B, Scheinman, Steven J, Ozdemir-Ozenen, Didem, Hart, Thomas C, Hart, P Suzanne, Neugebauer, Ute, Schlatter, Eberhard, Houillier, Pascal, Gahl, William A, Vikkula, Miikka, Bloch-Zupan, Agnès, Bleich, Markus, Kitagawa, Hiroshi, Unwin, Robert J, Mighell, Alan, Berdal, Ariane, Kleta, Robert

“…Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these…”
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A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance by Sumner, Charlotte J., d’Ydewalle, Constantin, Wooley, Joe, Fawcett, Katherine A., Hernandez, Dena, Gardiner, Alice R., Kalmar, Bernadett, Baloh, Robert H., Gonzalez, Michael, Züchner, Stephan, Stanescu, Horia C., Kleta, Robert, Mankodi, Ami, Cornblath, David R., Boylan, Kevin B., Reilly, Mary M., Greensmith, Linda, Singleton, Andrew B., Harms, Matthew B., Rossor, Alexander M., Houlden, Henry

“…Spinal muscular atrophies (SMAs) are a heterogeneous group of inherited disorders characterized by degeneration of anterior horn cells and progressive muscle…”
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Risk HLA-DQA1 and PLA2R1 Alleles in Idiopathic Membranous Nephropathy by STANESCU, Horia C, ARCOS-BURGOS, Mauricio, STEPHENS, Henry A. F, LAUNDY, Valerie, PADMANABHAN, Sandosh, ZAWADZKA, Anna, HOFSTRA, Julia M, COENEN, Marieke J. H, DEN HEIJER, Martin, KIEMENEY, Lambertus A. L. M, BACQ-DAIAN, Delphine, STENGEL, Benedicte, MEDLAR, Alan, POWIS, Stephen H, BRENCHLEY, Paul, FEEHALLY, John, REES, AndrewJ, DEBIEC, Hanna, WETZELS, Jack F. M, RONCO, Pierre, MATHIESON, Peter W, KLETA, Robert, BOCKENHAUER, Detlef, KOTTGEN, Anna, DRAGOMIRESCU, Liviu, VOINESCU, Catalin, PATEL, Naina, PEARCE, Kerra, HUBANK, Mike

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Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome by Mahmood, Fahad, Mozere, Monika, Zdebik, Anselm A, Stanescu, Horia C, Tobin, Jonathan, Beales, Philip L, Kleta, Robert, Bockenhauer, Detlef, Russell, Claire

“…Recessive mutations in KCNJ10, which encodes an inwardly rectifying potassium channel, were recently identified as the cause of EAST syndrome, a severe and…”
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Genetics of membranous nephropathy by Gupta, Sanjana, Köttgen, Anna, Hoxha, Elion, Brenchley, Paul, Bockenhauer, Detlef, Stanescu, Horia C, Kleta, Robert

“…An HLA-DR3 association with membranous nephropathy (MN) was described in 1979 and additional evidence for a genetic component to MN was suggested in 1984 in…”
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NT5E Mutations and Arterial Calcifications by St. Hilaire, Cynthia, Ziegler, Shira G, Markello, Thomas C, Brusco, Alfredo, Groden, Catherine, Gill, Fred, Carlson-Donohoe, Hannah, Lederman, Robert J, Chen, Marcus Y, Yang, Dan, Siegenthaler, Michael P, Arduino, Carlo, Mancini, Cecilia, Freudenthal, Bernard, Stanescu, Horia C, Zdebik, Anselm A, Chaganti, R. Krishna, Nussbaum, Robert L, Kleta, Robert, Gahl, William A, Boehm, Manfred

“…Members of three families were noted to have extensive arterial and joint calcifications. Genetic analysis identified mutations in NT5E , encoding CD73, which…”
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Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy by Stanescu, Horia C, Arcos-Burgos, Mauricio, Medlar, Alan, Bockenhauer, Detlef, Kottgen, Anna, Dragomirescu, Liviu, Voinescu, Catalin, Patel, Naina, Pearce, Kerra, Hubank, Mike, Stephens, Henry A F, Laundy, Valerie, Padmanabhan, Sandosh, Zawadzka, Anna, Hofstra, Julia M, Coenen, Marieke J H, den Heijer, Martin, Kiemeney, Lambertus A L M, Bacq-Daian, Delphine, Stengel, Benedicte, Powis, Stephen H, Brenchley, Paul, Feehally, John, Rees, Andrew J, Debiec, Hanna, Wetzels, Jack F M, Ronco, Pierre, Mathieson, Peter W, Kleta, Robert

“…Idiopathic membranous nephropathy is a major cause of the nephrotic syndrome in adults, but its etiologic basis is not fully understood. We investigated the…”
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Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia by Hersheson, Joshua, Mencacci, Niccolo E., Davis, Mary, MacDonald, Nicola, Trabzuni, Daniah, Ryten, Mina, Pittman, Alan, Paudel, Reema, Kara, Eleanna, Fawcett, Katherine, Plagnol, Vincent, Bhatia, Kailash P., Medlar, Alan J., Stanescu, Horia C., Hardy, John, Kleta, Robert, Wood, Nicholas W., Houlden, Henry

“…Dystonia type 4 (DYT4) was first described in a large family from Heacham in Norfolk with an autosomal dominantly inherited whispering dysphonia, generalized…”
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Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations by Bockenhauer, Detlef, Feather, Sally, Stanescu, Horia C, Bandulik, Sascha, Zdebik, Anselm A, Reichold, Markus, Tobin, Jonathan, Lieberer, Evelyn, Sterner, Christina, Landoure, Guida, Arora, Ruchi, Sirimanna, Tony, Thompson, Dorothy, Cross, J. Helen, van't Hoff, William, Al Masri, Omar, Tullus, Kjell, Yeung, Stella, Anikster, Yair, Klootwijk, Enriko, Hubank, Mike, Dillon, Michael J, Heitzmann, Dirk, Arcos-Burgos, Mauricio, Knepper, Mark A, Dobbie, Angus, Gahl, William A, Warth, Richard, Sheridan, Eamonn, Kleta, Robert

“…Whole-genome linkage analysis in children with normotensive hypokalemic metabolic alkalosis, epilepsy, ataxia, sensorineural deafness, and tubulopathy…”
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Quantifying variant contributions in cystic kidney disease using national-scale whole-genome sequencing by Sadeghi-Alavijeh, Omid, Chan, Melanie My, Doctor, Gabriel T, Voinescu, Catalin D, Stuckey, Alexander, Kousathanas, Athanasios, Ho, Alexander T, Stanescu, Horia C, Bockenhauer, Detlef, Sandford, Richard N, Levine, Adam P, Gale, Daniel P

“…BACKGROUNDCystic kidney disease (CyKD) is a predominantly familial disease in which gene discovery has been led by family-based and candidate gene studies, an…”
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Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome by Dufek, Stephanie, Cheshire, Chris, Levine, Adam P, Trompeter, Richard S, Issler, Naomi, Stubbs, Matthew, Mozere, Monika, Gupta, Sanjana, Klootwijk, Enriko, Patel, Vaksha, Hothi, Daljit, Waters, Aoife, Webb, Hazel, Tullus, Kjell, Jenkins, Lucy, Godinho, Lighta, Levtchenko, Elena, Wetzels, Jack, Knoers, Nine, Teeninga, Nynke, Nauta, Jeroen, Shalaby, Mohamed, Eldesoky, Sherif, Kari, Jameela A, Thalgahagoda, Shenal, Ranawaka, Randula, Abeyagunawardena, Asiri, Adeyemo, Adebowale, Kristiansen, Mark, Gbadegesin, Rasheed, Webb, Nicholas J, Gale, Daniel P, Stanescu, Horia C, Kleta, Robert, Bockenhauer, Detlef

“…Steroid-sensitive nephrotic syndrome (SSNS), the most common form of nephrotic syndrome in childhood, is considered an autoimmune disease with an established…”
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Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies by Sekula, Peggy, Li, Yong, Stanescu, Horia C, Wuttke, Matthias, Ekici, Arif B, Bockenhauer, Detlef, Walz, Gerd, Powis, Stephen H, Kielstein, Jan T, Brenchley, Paul, Eckardt, Kai-Uwe, Kronenberg, Florian, Kleta, Robert, Köttgen, Anna

“…Membranous nephropathy (MN) is a common cause of nephrotic syndrome in adults. Previous genome-wide association studies (GWAS) of 300 000 genotyped variants…”
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STAG3 truncating variant as the cause of primary ovarian insufficiency by Le Quesne Stabej, Polona, Williams, Hywel J, James, Chela, Tekman, Mehmet, Stanescu, Horia C, Kleta, Robert, Ocaka, Louise, Lescai, Francesco, Storr, Helen L, Bitner-Glindzicz, Maria, Bacchelli, Chiara, Conway, Gerard S

“…Primary ovarian insufficiency (POI) is a distressing cause of infertility in young women. POI is heterogeneous with only a few causative genes having been…”
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