Search Results - "MACKAY, Deborah J. G"

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study by De Franco, Elisa, PhD, Flanagan, Sarah E, PhD, Houghton, Jayne AL, PhD, Allen, Hana Lango, PhD, Mackay, Deborah JG, PhD, Temple, I Karen, Prof, Ellard, Sian, Prof, Hattersley, Andrew T, Prof

“…Summary Background Traditional genetic testing focusses on analysis of one or a few genes according to clinical features; this approach is changing as improved…”
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Genomic imprinting disorders: lessons on how genome, epigenome and environment interact by Monk, David, Mackay, Deborah J. G., Eggermann, Thomas, Maher, Eamonn R., Riccio, Andrea

“…Genomic imprinting, the monoallelic and parent-of-origin-dependent expression of a subset of genes, is required for normal development, and its disruption…”
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Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome by BLIEK, Jet, VERDE, Gaetano, FISCHETTO, Rita, LALATTA, Faustina, GIORDANO, Lucio, FERRARI, Paola, CUBELLIS, Maria Vittoria, LARIZZA, Lidia, TEMPLE, I. Karen, MANNENS, Marcel M. A. M, MACKAY, Deborah J. G, RICCIO, Andrea, CALLAWAY, Jonathan, MAAS, Saskia M, DE CRESCENZO, Agostina, SPARAGO, Angela, CERRATO, Flavia, RUSSO, Silvia, FERRAIUOLO, Serena, MICHELA RINALDI, Maria

“…Genomic imprinting is an epigenetic phenomenon restricting gene expression in a manner dependent on parent of origin. Imprinted gene products are critical…”
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Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects by Ellard, Sian, Flanagan, Sarah E., Girard, Christophe A., Patch, Ann-Marie, Harries, Lorna W., Parrish, Andrew, Edghill, Emma L., Mackay, Deborah J.G., Proks, Peter, Shimomura, Kenju, Haberland, Holger, Carson, Dennis J., Shield, Julian P.H., Hattersley, Andrew T., Ashcroft, Frances M.

“…Heterozygous activating mutations in the KCNJ11 gene encoding the pore-forming Kir6.2 subunit of the pancreatic beta cell K ATP channel are the most common…”
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Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement by Brioude, Frédéric, Kalish, Jennifer M., Mussa, Alessandro, Foster, Alison C., Bliek, Jet, Ferrero, Giovanni Battista, Boonen, Susanne E., Cole, Trevor, Baker, Robert, Bertoletti, Monica, Cocchi, Guido, Coze, Carole, De Pellegrin, Maurizio, Hussain, Khalid, Ibrahim, Abdulla, Kilby, Mark D., Krajewska-Walasek, Malgorzata, Kratz, Christian P., Ladusans, Edmund J., Lapunzina, Pablo, Le Bouc, Yves, Maas, Saskia M., Macdonald, Fiona, Õunap, Katrin, Peruzzi, Licia, Rossignol, Sylvie, Russo, Silvia, Shipster, Caroleen, Skórka, Agata, Tatton-Brown, Katrina, Tenorio, Jair, Tortora, Chiara, Grønskov, Karen, Netchine, Irène, Hennekam, Raoul C., Prawitt, Dirk, Tümer, Zeynep, Eggermann, Thomas, Mackay, Deborah J. G., Riccio, Andrea, Maher, Eamonn R.

“…Beckwith–Wiedemann syndrome is an overgrowth disorder characterized by variable clinical phenotypes and a complex molecular aetiology. This Consensus Statement…”
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Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region by Briggs, Tracy A., Lokulo-Sodipe, Kemi, Chandler, Kate E., Mackay, Deborah J. G., Temple, I. Karen

“…We present a Caucasian female, who was diagnosed at 13 years of age with Temple syndrome (formerly referred to as “maternal UPD 14 phenotype”) due to an…”
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Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases by Ioannides, Yiannis, Lokulo-Sodipe, Kemi, Mackay, Deborah J G, Davies, Justin H, Temple, I Karen

“…Chromosome 14 harbours an imprinted locus at 14q32. Maternal uniparental disomy of chromosome 14, paternal deletions and loss of methylation at the intergenic…”
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Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci by Eggermann, Thomas, Perez de Nanclares, Guiomar, Maher, Eamonn R, Temple, I Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah J G, Grønskov, Karen, Riccio, Andrea, Linglart, Agnès, Netchine, Irène

“…Congenital imprinting disorders (IDs) are characterised by molecular changes affecting imprinted chromosomal regions and genes, i.e. genes that are expressed…”
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DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins by Laborie, Lene Bjerke, Mackay, Deborah J. G., Temple, I. Karen, Molven, Anders, Søvik, Oddmund, Njølstad, Pål Rasmus

“…One known genetic mechanism for transient neonatal diabetes is loss of methylation at 6q24. The etiology of prune belly sequence is unknown but a genetic…”
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Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 by Mackay, Deborah J G, Callaway, Jonathan L A, Marks, Sophie M, White, Helen E, Acerini, Carlo L, Boonen, Susanne E, Dayanikli, Pinar, Firth, Helen V, Goodship, Judith A, Haemers, Andreas P, Hahnemann, Johanne M D, Kordonouri, Olga, Masoud, Ahmed F, Oestergaard, Elsebet, Storr, John, Ellard, Sian, Hattersley, Andrew T, Robinson, David O, Temple, I Karen

“…We have previously described individuals presenting with transient neonatal diabetes and showing a variable pattern of DNA hypomethylation at imprinted loci…”
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Insights Into the Molecular Mechanism for Type 2 Diabetes Susceptibility at the KCNQ1 Locus From Temporal Changes in Imprinting Status in Human Islets by TRAVERS, Mary E, MACKAY, Deborah J. G, GLOYN, Anna L, DEKKER NITERT, Marloes, MORRIS, Andrew P, LINDGREN, Cecilia M, BERRY, Andrew, JOHNSON, Paul R, HANLEY, Neil, GROOP, Leif C, MCCARTHY, Mark I

“…The molecular basis of type 2 diabetes predisposition at most established susceptibility loci remains poorly understood. KCNQ1 maps within the 11p15.5…”
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Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood by FLANAGAN, Sarah E, PATCH, Ann-Marie, MACKAY, Deborah J. G, EDGHILL, Emma L, GLOYN, Anna L, ROBINSON, David, SHIELD, Julian P. H, TEMPLE, Karen, ELLARD, Sian, HATTERSLEY, Andrew T

“…Mutations in ATP-Sensitive K + Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood Sarah E. Flanagan 1 , Ann-Marie…”
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Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging by Jeffries, Aaron R, Maroofian, Reza, Salter, Claire G, Chioza, Barry A, Cross, Harold E, Patton, Michael A, Dempster, Emma, Temple, I Karen, Mackay, Deborah J G, Rezwan, Faisal I, Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Hunter, Matthew F, Kamath, Arveen, Kumar, Ajith, Newbury-Ecob, Ruth, Selicorni, Angelo, Springer, Amanda, Van Maldergem, Lionel, Varghese, Vinod, Yachelevich, Naomi, Tatton-Brown, Katrina, Mill, Jonathan, Crosby, Andrew H, Baple, Emma L

“…Germline mutations in fundamental epigenetic regulatory molecules including DNA methyltransferase 3 alpha ( ) are commonly associated with growth disorders,…”
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Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57 by Bak, Mads, Boonen, Susanne E, Dahl, Christina, Hahnemann, Johanne M D, Mackay, Deborah J D G, Tümer, Zeynep, Grønskov, Karen, Temple, I Karen, Guldberg, Per, Tommerup, Niels

“…Transient neonatal diabetes mellitus 1 (TNDM1) is a rare imprinting disorder characterized by intrautering growth retardation and diabetes mellitus usually…”
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The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype by Sparago, Angela, Verma, Ankit, Patricelli, Maria Grazia, Pignata, Laura, Russo, Silvia, Calzari, Luciano, De Francesco, Naomi, Del Prete, Rosita, Palumbo, Orazio, Carella, Massimo, Mackay, Deborah J G, Rezwan, Faisal I, Angelini, Claudia, Cerrato, Flavia, Cubellis, Maria Vittoria, Riccio, Andrea

“…A subset of individuals affected by imprinting disorders displays multi-locus imprinting disturbances (MLID). MLID has been associated with maternal-effect…”
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Mutation of HERC2 causes developmental delay with Angelman-like features by Harlalka, Gaurav V, Baple, Emma L, Cross, Harold, Kühnle, Simone, Cubillos-Rojas, Monica, Matentzoglu, Konstantin, Patton, Michael A, Wagner, Karin, Coblentz, Roselyn, Ford, Debra L, Mackay, Deborah J G, Chioza, Barry A, Scheffner, Martin, Rosa, Jose Luis, Crosby, Andrew H

“…Deregulation of the activity of the ubiquitin ligase E6AP (UBE3A) is well recognised to contribute to the development of Angelman syndrome (AS). The ubiquitin…”
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Prematurity and Genetic Testing for Neonatal Diabetes by Besser, Rachel E J, Flanagan, Sarah E, Mackay, Deborah G J, Temple, I K, Shepherd, Maggie H, Shields, Beverley M, Ellard, Sian, Hattersley, Andrew T

“…Hyperglycemia in premature infants is usually thought to reflect inadequate pancreatic development rather than monogenic neonatal diabetes. No studies, to our…”
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Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis by Mackay, Deborah J G, Gazdagh, Gabriella, Monk, David, Brioude, Frederic, Giabicani, Eloise, Krzyzewska, Izabela M, Kalish, Jennifer M, Maas, Saskia M, Kagami, Masayo, Beygo, Jasmin, Kahre, Tiina, Tenorio-Castano, Jair, Ambrozaitytė, Laima, Burnytė, Birutė, Cerrato, Flavia, Davies, Justin H, Ferrero, Giovanni Battista, Fjodorova, Olga, Manero-Azua, Africa, Pereda, Arrate, Russo, Silvia, Tannorella, Pierpaola, Temple, Karen I, Õunap, Katrin, Riccio, Andrea, de Nanclares, Guiomar Perez, Maher, Eamonn R, Lapunzina, Pablo, Netchine, Irène, Eggermann, Thomas, Bliek, Jet, Tümer, Zeynep

“…Imprinting disorders are rare diseases resulting from altered expression of imprinted genes, which exhibit parent-of-origin-specific expression patterns…”
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Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2 H19-imprinting control region, ICR1 by POOLE, Rebecca L, LEITH, Donald J, DOCHERTY, Louise E, SHMELA, Mansur E, GICQUEL, Christine, SPLITT, Miranda, KAREN TEMPLE, I, MACKAY, Deborah Jg

“…The imprinted expression of the IGF2 and H19 genes is controlled by the imprinting control region 1 (ICR1) located at chromosome 11p15.5. DNA methylation…”
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Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up by BOONEN, Susanne E, MACKAY, Deborah J. G, CHI VU, Dũng, BICH NGOC, C. T, BICH NGUYEN, Phuong, KORDONOURI, Olga, SUNDBERG, Frida, DAYANIKLI, Pinar, PUTHI, Vijith, ACERINI, Carlo, MASSOUD, Ahmed F, TÜMER, Zeynep, HAHNEMANN, Johanne M. D, KAREN TEMPLE, I, DOCHERTY, Louise, GRØNSKOV, Karen, LEHMANN, Anna, LARSEN, Lise G, HAEMERS, Andreas P, KOCKAERTS, Yves, DOOMS, Lutgarde

“…Transient neonatal diabetes mellitus 1 (TNDM1) is the most common cause of diabetes presenting at birth. Approximately 5% of the cases are due to recessive…”
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