Search Results - "ALLEN, Hana Lango"

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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Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans by Cytlak, Urszula, Resteu, Anastasia, Pagan, Sarah, Green, Kile, Milne, Paul, Maisuria, Sheetal, McDonald, David, Hulme, Gillian, Filby, Andrew, Carpenter, Benjamin, Queen, Rachel, Hambleton, Sophie, Hague, Rosie, Lango Allen, Hana, Thaventhiran, James E.D., Doody, Gina, Collin, Matthew, Bigley, Venetia

“…The formation of mammalian dendritic cells (DCs) is controlled by multiple hematopoietic transcription factors, including IRF8. Loss of IRF8 exerts a…”
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Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease by Flanagan, Sarah E, Haapaniemi, Emma, Russell, Mark A, Caswell, Richard, Allen, Hana Lango, De Franco, Elisa, McDonald, Timothy J, Rajala, Hanna, Ramelius, Anita, Barton, John, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Kajosaari, Merja, Murphy, Nuala P, Milenkovic, Tatjana, Seppänen, Mikko, Lernmark, Åke, Mustjoki, Satu, Otonkoski, Timo, Kere, Juha, Morgan, Noel G, Ellard, Sian, Hattersley, Andrew T

“…Andrew Hattersley, Noel Morgan, Juha Kere and colleagues identify de novo activating germline STAT3 mutations in five unrelated individuals with early-onset…”
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GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health by Zhao, Yajie, Stankovic, Stasa, Koprulu, Mine, Wheeler, Eleanor, Day, Felix R., Lango Allen, Hana, Kerrison, Nicola D., Pietzner, Maik, Loh, Po-Ru, Wareham, Nicholas J., Langenberg, Claudia, Ong, Ken K., Perry, John R. B.

“…Mosaic loss of chromosome Y (LOY) in leukocytes is the most common form of clonal mosaicism, caused by dysregulation in cell-cycle and DNA damage response…”
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Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes by Johnson, Matthew B, De Franco, Elisa, Lango Allen, Hana, Al Senani, Aisha, Elbarbary, Nancy, Siklar, Zeynep, Berberoglu, Merih, Imane, Zineb, Haghighi, Alireza, Razavi, Zahra, Ullah, Irfan, Alyaarubi, Saif, Gardner, Daphne, Ellard, Sian, Hattersley, Andrew T, Flanagan, Sarah E

“…Young-onset autoimmune diabetes associated with additional autoimmunity usually reflects a polygenic predisposition, but rare cases result from monogenic…”
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Thousands of missing variants in the UK Biobank are recoverable by genome realignment by Jia, Tongqiu, Munson, Brenton, Lango Allen, Hana, Ideker, Trey, Majithia, Amit R.

“…The UK Biobank is an unprecedented resource for human disease research. In March 2019, 49,997 exomes were made publicly available to investigators. Here we…”
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GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes by SHAW-SMITH, Charles, DE FRANCO, Elisa, MIEDZYBRODZKA, Zosia, DEJA, Grazyna, WLODARSKA, Iwona, MLYNARSKI, Wojciech, FERRER, Jorge, HATTERSLEY, Andrew T, ELLARD, Sian, ALLEN, Hana Lango, BATLLE, Marta, FLANAGAN, Sarah E, BOROWIEC, Maciej, TAPLIN, Craig E, VAN ALFEN-VAN DER VELDEN, Janiëlle, CRUZ-ROJO, Jaime, PEREZ DE NANCLARES, Guiomar

“…The GATA family zinc finger transcription factors GATA4 and GATA6 are known to play important roles in the development of the pancreas. In mice, both Gata4 and…”
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A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development by De Franco, Elisa, Watson, Rachel A., Weninger, Wolfgang J., Wong, Chi C., Flanagan, Sarah E., Caswell, Richard, Green, Angela, Tudor, Catherine, Lelliott, Christopher J., Geyer, Stefan H., Maurer-Gesek, Barbara, Reissig, Lukas F., Lango Allen, Hana, Caliebe, Almuth, Siebert, Reiner, Holterhus, Paul Martin, Deeb, Asma, Prin, Fabrice, Hilbrands, Robert, Heimberg, Harry, Ellard, Sian, Hattersley, Andrew T., Barroso, Inês

“…We report a recurrent CNOT1 de novo missense mutation, GenBank: NM_016284.4; c.1603C>T (p.Arg535Cys), resulting in a syndrome of pancreatic agenesis and…”
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Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man by Flanagan, Sarah E., De Franco, Elisa, Lango Allen, Hana, Zerah, Michele, Abdul-Rasoul, Majedah M., Edge, Julie A., Stewart, Helen, Alamiri, Elham, Hussain, Khalid, Wallis, Sam, de Vries, Liat, Rubio-Cabezas, Oscar, Houghton, Jayne A.L., Edghill, Emma L., Patch, Ann-Marie, Ellard, Sian, Hattersley, Andrew T.

“…Understanding transcriptional regulation of pancreatic development is required to advance current efforts in developing beta cell replacement therapies for…”
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Detection and characterization of male sex chromosome abnormalities in the UK Biobank study by Zhao, Yajie, Gardner, Eugene J, Tuke, Marcus A, Zhang, Huairen, Pietzner, Maik, Koprulu, Mine, Jia, Raina Y, Ruth, Katherine S, Wood, Andrew R, Beaumont, Robin N, Tyrrell, Jessica, Jones, Samuel E, Lango Allen, Hana, Day, Felix R, Langenberg, Claudia, Frayling, Timothy M, Weedon, Michael N, Perry, John R B, Ong, Ken K, Murray, Anna

“…The study aimed to systematically ascertain male sex chromosome abnormalities, 47,XXY (Klinefelter syndrome [KS]) and 47,XYY, and characterize their risks of…”
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Predicting the Occurrence of Variants in RAG1 and RAG2 by Lawless, Dylan, Lango Allen, Hana, Thaventhiran, James, Hodel, Flavia, Anwar, Rashida, Fellay, Jacques, Walter, Jolan E., Savic, Sinisa

“…While widespread genome sequencing ushers in a new era of preventive medicine, the tools for predictive genomics are still lacking. Time and resource…”
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Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus by Sansbury, Francis H, Kirel, Birgül, Caswell, Richard, Allen, Hana Lango, Lango Allen, Hana, Flanagan, Sarah E, Hattersley, Andrew T, Ellard, Sian, Shaw-Smith, Charles J

“…Neonatal diabetes is a highly genetically heterogeneous disorder. There are over 20 distinct syndromic and non-syndromic forms, including dominant, recessive…”
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Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing by Stals, Karen L., Wakeling, Matthew, Baptista, Júlia, Caswell, Richard, Parrish, Andrew, Rankin, Julia, Tysoe, Carolyn, Jones, Garan, Gunning, Adam C., Lango Allen, Hana, Bradley, Lisa, Brady, Angela F., Carley, Helena, Carmichael, Jenny, Castle, Bruce, Cilliers, Deirdre, Cox, Helen, Deshpande, Charu, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Fry, Andrew E., Fryer, Alan, Holder, Muriel, Homfray, Tessa, Kivuva, Emma, McKay, Victoria, Newbury‐Ecob, Ruth, Parker, Michael, Savarirayan, Ravi, Searle, Claire, Shannon, Nora, Shears, Deborah, Smithson, Sarah, Thomas, Ellen, Turnpenny, Peter D., Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Baple, Emma L., Ellard, Sian

“…Objective Rare genetic disorders resulting in prenatal or neonatal death are genetically heterogeneous, but testing is often limited by the availability of…”
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Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency by Lawless, Dylan, Geier, Christoph B., Farmer, Jocelyn R., Lango Allen, Hana, Thwaites, Daniel, Atschekzei, Faranaz, Brown, Matthew, Buchbinder, David, Burns, Siobhan O., Butte, Manish J., Csomos, Krisztian, Deevi, Sri V.V., Egner, William, Ehl, Stephan, Eibl, Martha M., Fadugba, Olajumoke, Foldvari, Zsofia, Green, Deanna M., Henrickson, Sarah E., Holland, Steven M., John, Tami, Klemann, Christian, Kuijpers, Taco W., Moreira, Fernando, Piller, Alexander, Rayner-Matthews, Paula, Romberg, Neil D., Sargur, Ravishankar, Schmidt, Reinhold E., Schröder, Claudia, Schuetz, Catharina, Sharapova, Svetlana O., Smith, Ken G.C., Sogkas, Georgios, Speckmann, Carsten, Stirrups, Kathleen, Thrasher, Adrian J., Wolf, Hermann M., Notarangelo, Luigi D., Anwar, Rashida, Boyes, Joan, Ujhazi, Boglarka, Thaventhiran, James, Walter, Jolan E., Savic, Sinisa

“…To the Editor: Recombination-activating gene (RAG) deficiency has an estimated disease incidence of 1:181,000, including severe combined immunodeficiency…”
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Polygenic Risk Variants for Type 2 Diabetes Susceptibility Modify Age at Diagnosis in Monogenic HNF1A Diabetes by HANA LANGO ALLEN, JOHANSSON, Stefan, HATTERSLEY, Andrew T, WEEDON, Michael N, ELLARD, Sian, SHIELDS, Beverley, HERTEL, Jens K, RAEDER, Helge, COLCLOUGH, Kevin, MOLVEN, Anders, FRAYLING, Timothy M, NJØLSTAD, Pål R

“…Polygenic Risk Variants for Type 2 Diabetes Susceptibility Modify Age at Diagnosis in Monogenic HNF1A Diabetes Hana Lango Allen 1 , 2 , Stefan Johansson 3 , 4…”
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GATA6 haploinsufficiency causes pancreatic agenesis in humans by Allen, Hana Lango, Flanagan, Sarah E, Shaw-Smith, Charles, De Franco, Elisa, Akerman, Ildem, Caswell, Richard, Ferrer, Jorge, Hattersley, Andrew T, Ellard, Sian

“…Andrew Hattersley and colleagues report an exome sequencing study that identifies de novo heterozygous inactivating mutations in GATA6 as a common cause of…”
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Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans by Tuijnenburg, Paul, Jansen, Machiel H., Carss, Keren J., Baxendale, Helen, Chandra, Anita, Seneviratne, Suranjith L., Oksenhendler, Eric, Tool, Anton T.J., Whitehorn, Deborah, Turro, Ernest, Thaventhiran, James E., Kuijpers, Taco W., Adhya, Zoe, Anantharachagan, Ariharan, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bibi, Shahnaz, Booth, Claire, Browning, Michael, Burns, Siobhan, Clifford, Hayley, Cooper, Nichola, Davies, Sophie, Devlin, Lisa, Edgar, David, Egner, William, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Hackett, Scott, Hague, Rosie, Hayman, Grant, Jolles, Stephen, Jones, Julie, Kelleher, Peter, Klein, Nigel, Kuijpers, Taco, Kumararatne, Dinakantha, Laffan, James, Lango Allen, Hana, Lear, Sara, Longhurst, Hilary, Maimaris, Jesmeen, McDermott, Elizabeth, Morrisson, Valerie, Nasir, Iman, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Samarghitean, Crina, Savic, Sinisa, Seneviratne, Suranjith, Simeoni, Ilenia, Staples, Emily, Steele, Cathal, Thaventhiran, James, Thomas, Moira, Thrasher, Adrian, Worth, Austen, Yong, Patrick, Bradley, John, Hammerton, Tracey, Ouwehand, Willem, Raymond, F Lucy, Veltman, Marijke, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Erwood, Marie, Frary, Amy, Linger, Rachel, Papadia, Sofia, Rehnstrom, Karola, Astle, William, Attwood, Antony, Bleda, Marta, Carss, Keren, Daugherty, Louise, Deevi, Sri, Graf, Stefan, Greene, Daniel, Halmagyi, Csaba, Matser, Vera, Meacham, Stuart, Megy, Karyn, Shamardina, Olga, Titterton, Catherine, Tuna, Salih, Turro, Ernest, von Ziegenweldt, Julie, Furnell, Abigail, Staines, Simon, Stephens, Jonathan, Whitehorn, Deborah, Watt, Christopher

“…The genetic cause of primary immunodeficiency disease (PID) carries prognostic information. We conducted a whole-genome sequencing study assessing a large…”
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Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses by Spencer, Sarah, Köstel Bal, Sevgi, Egner, William, Lango Allen, Hana, Raza, Syed I, Ma, Chi A, Gürel, Meltem, Zhang, Yuan, Sun, Guangping, Sabroe, Ruth A, Greene, Daniel, Rae, William, Shahin, Tala, Kania, Katarzyna, Ardy, Rico Chandra, Thian, Marini, Staples, Emily, Pecchia-Bekkum, Annika, Worrall, William P M, Stephens, Jonathan, Brown, Matthew, Tuna, Salih, York, Melanie, Shackley, Fiona, Kerrin, Diarmuid, Sargur, Ravishankar, Condliffe, Alison, Tipu, Hamid Nawaz, Kuehn, Hye Sun, Rosenzweig, Sergio D, Turro, Ernest, Tavaré, Simon, Thrasher, Adrian J, Jodrell, Duncan Ian, Smith, Kenneth G C, Boztug, Kaan, Milner, Joshua D, Thaventhiran, James E D

“…IL-6 excess is central to the pathogenesis of multiple inflammatory conditions and is targeted in clinical practice by immunotherapy that blocks the IL-6…”
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Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis by Weedon, Michael N, Cebola, Inês, Patch, Ann-Marie, Flanagan, Sarah E, De Franco, Elisa, Caswell, Richard, Rodríguez-Seguí, Santiago A, Shaw-Smith, Charles, Cho, Candy H-H, Allen, Hana Lango, Houghton, Jayne A L, Roth, Christian L, Chen, Rongrong, Hussain, Khalid, Marsh, Phil, Vallier, Ludovic, Murray, Anna, Ellard, Sian, Ferrer, Jorge, Hattersley, Andrew T

“…Andrew Hattersley, Jorge Ferrer and colleagues use epigenomic annotation of pancreatic progenitor cells to guide the interpretation of whole-genome sequences…”
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An exome sequencing strategy to diagnose lethal autosomal recessive disorders by Ellard, Sian, Kivuva, Emma, Turnpenny, Peter, Stals, Karen, Johnson, Matthew, Xie, Weijia, Caswell, Richard, Lango Allen, Hana

“…Rare disorders resulting in prenatal or neonatal death are genetically heterogeneous. For some conditions, affected fetuses can be diagnosed by ultrasound…”
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