Search Results - "Ghurye, Rohit"

Novel ADA2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (DADA2) by Ghurye, Rohit R., Sundaram, Kruthika, Smith, Frances, Clark, Barnaby, Simpson, Michael A., Fairbanks, Lynette, Adhya, Zoe, Mufti, Ghulam J., Marsh, Judith C. W., Ibrahim, Mohammad A. A.

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Successful Treatment of a Patient with Chronic Systemic Capillary Leak Syndrome, Neutropenia and Thymoma by Ghurye, Rohit R., Khan, Asim, Yung, Timothy, Kiani-Alikhan, Sorena, Pyne, Debasish, Grigoriadou, Sofia

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Successful rapid push subcutaneous desensitization in a patient with delayed local hypersensitivity reactions to immunoglobulins by Ghurye, Rohit R., Bright, Philip, Lowe, David, Buckland, Matthew S.

“…Subcutaneous immunoglobulin (SCIg) infusions are increasingly used, due to convenience of self-administration, more consistent IgG trough levels, and fewer…”
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Bromodomain inhibition by JQ1 suppresses lipopolysaccharide-stimulated interleukin-6 secretion in multiple myeloma cells by Ghurye, Rohit R., Stewart, Helen J.S., Chevassut, Timothy J.

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Abdominal hereditary angio-oedema caught on magnetic resonance imaging by Siow, Mayven Tien Li, Robertson, Alexander Myles, Ghurye, Rohit R, Blaker, Paul A

“…A 17-year-old woman presented with a 3-year history of recurrent, severe abdominal pain with spontaneous resolution within a few days. An ultrasound revealed…”
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Galectin-1 stimulates monocyte chemotaxis via the p44/42 MAP kinase pathway and a pertussis toxin-sensitive pathway by Malik, Reshad K.J, Ghurye, Rohit R, Lawrence-Watt, Diana J, Stewart, Helen J.S

“…Galectin-1, the prototype of a family of β-galactoside-binding proteins, has been implicated in a wide variety of biological processes. Data presented herein…”
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Molecular detection of BRAF-V600E is superior to flow cytometry for disease evaluation in hairy cell leukaemia by Rider, Tom, Powell, Robert, Gover, R., Ansell, Richard, Bastow, Sarah, Ghurye, Rohit R., Stewart, Helen, Chevassut, Timothy

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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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Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations by Lorenzini, Tiziana, Fliegauf, Manfred, Klammer, Nils, Proietti, Michele, Bulashevska, Alla, Schejter, Yael D., Atschekzei, Faranaz, Stepensky, Polina, Pedroza, Luis A., van der Flier, Michiel, Martínez-Gallo, Mónica, Svec, Peter, Fischer, Ute, Ip, Winnie, Geha, Raif, Chou, Janet, Alosaimi, Mohammed, Weintraub, Lauren, Dos Santos Vilela, Maria Marluce, Holzinger, Dirk, Seidl, Maximilian, Lougaris, Vassilios, Plebani, Alessandro, Abolhassani, Hassan, Thaventhiran, James E., Warnatz, Klaus, Grimbacher, Bodo, Ashford, Sofie, Bacchelli, Chiara, Batista, Joana, Bibi, Shahnaz, Boardman, Barbara, Booth, Claire, Breen, Gerome, Burns, Siobhan O., Burren, Oliver S., Carss, Keren, Chambers, John, Cooper, Nichola, Davies, E.G., Dempster, John, Dewhurst, Eleanor F., Drewe, Elizabeth, Duarte, Daniel, Edgar, J. David M., Egner, William, El-Shanawany, Tariq, Erwood, Marie, Fox, James, Frontini, Mattia, Furnell, Abigail, Gaspar, H. Bobby, Gleadall, Nicholas S., Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Haimel, Matthias, Hayman, Grant, Hu, Fengyuan, Huissoon, Aarnoud P., Jolles, Stephen, Kasanicki, Mary A., Kelleher, Peter, Klein, Nigel, Kreuzhuber, Roman, Kuijpers, Taco W., Kumararatne, Dinakantha, Allen, Hana Lango, Linger, Rachel, Lorenzo, Lorena E., Maimaris, Jesmeen, Martin, Jennifer, McDermott, Elizabeth M., Meacham, Stuart, Morrisson, Valerie, Nasir, Iman, Nejentsev, Sergey, Papadia, Sofia, Ponsford, Mark J., Quinn, Ellen, Quinti, Isabella, Rayner-Matthews, Paula J., Samani, Nilesh, Sanchis-Juan, Alba, Savic, Sinisa, Simpson, Michael A., Smith, Kenneth G.C., Thaventhiran, James E., Tilly, Tobias, Titterton, Catherine, Tuna, Salih, Urniaz, Rafal, von Ziegenweidt, Julie, Watt, Christopher, Welch, Steven B., Whitehorn, Deborah, Wood, Yvette, Workman, Sarita, Worth, Austen, Young, Timothy

“…An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. To characterize the clinical and cellular…”
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Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes by West, Hannah, Carss, Keren, Shakeel, Hassan, Adlard, Julian, Cole, Trevor, Kwong, Ava, Paterson, Joan, Searle, Claire, Skytte, Anne-Bine, Aitman, Timothy, Ambegaonkar, Gautum, Antrobus, Richard, Arno, Gavin, Astle, William, Attwood, Antony, Austin, Steve, Bakchoul, Tamam, Bennett, David, Bitner-Glindzicz, Maria, Bleda, Marta, Bolton-Maggs, Paula, Booth, Claire, Clements-Brod, Naomi, Clowes, Virginia, Collins, Peter, Cookson, Victoria, Creaser-Myers, Amanda, DaCosta, Rosa, Davies, Sophie, Deegan, Patrick, Dewhurst, Eleanor, Doffinger, Rainer, Drewe, Elizabeth, Favier, Remi, Firth, Helen, Furie, Bruce, Furnell, Abigail, Gardham, Alice, Gissen, Paul, Gomez, Keith, Graf, Stefan, Gräf, Stefan, Greenhalgh, Alan, Hackett, Scott, Haimel, Matthias, Herwadkar, Archana, Holder, Muriel, Huissoon, Aarnoud, James, Roger, Kennedy, Fiona, Kingston, Nathalie, Kuijpers, Taco, Lawrie, Allan, Lentaigne, Claire, Machado, Rajiv, Maher, Eamonn, Mangles, Sarah, Manson, Ania, Matser, Vera, McDermott, Elizabeth, Megy, Karyn, Millar, Carolyn M., Morrell, Nicholas, Ouwehand, Willem H., Papadia, Sofia, Payne, Jeanette, Peacock, Andrew, Pollock, Val, Quinti, Isabella, Rayner-Matthews, Paula, Rehnstrom, Karola, Rhodes, Christopher J., Richardson, Sylvia, Richter, Alex, Rondina, Matthew, Rosser, Elisabeth, Rue-Albrecht, Kevin, Sargur, Ravishankar, Savic, Sinisa, Schotte, Gwen, Schulze, Harald, Seneviratne, Suranjith, Shamardina, Olga, Simeoni, Ilenia, Staines, Simon, Stark, Hannah, Stock, Sophie, Thaventhiran, James, Thompson, Dorothy, Toh, Cheng-Hock, Turek, Wojciech, Wassmer, Evangeline, Watt, Christopher, Wharton, John, Williamson, Catherine, Woods, Geoff, Wort, John, Yeatman, Nigel, Tischkowitz, Marc D., Maher, Eamonn R.

“…Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition…”
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Novel ADA 2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 ( DADA 2) by Ghurye, Rohit R., Sundaram, Kruthika, Smith, Frances, Clark, Barnaby, Simpson, Michael A., Fairbanks, Lynette, Adhya, Zoe, Mufti, Ghulam J., Marsh, Judith C. W., Ibrahim, Mohammad A. A.

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Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma by Minskaia, Ekaterina, Maimaris, Jesmeen, Jenkins, Persephone, Albuquerque, Adriana S., Hong, Ying, Eleftheriou, Despina, Gilmour, Kimberly C., Grace, Richard, Moreira, Fernando, Grimbacher, Bodo, Morris, Emma C., Burns, Siobhan O.

“…The transcription factor STAT6 (Signal Transducer and Activator of Transcription 6) is a key regulator of Th2 (T-helper 2) mediated allergic inflammation via…”
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Practical challenges for functional validation of STAT1 gain of function genetic variants by Albuquerque, Adriana S, Maimaris, Jesmeen, McKenna, Alexander J, Lambourne, Jonathan, Moreira, Fernando, Workman, Sarita, Megy, Karyn, Simeoni, Ilenia, Lango Allen, Hana, Morris, Emma C, Burns, Siobhan O

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Loss‐of‐function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees by Sprenkeler, Evelien G. G., Tool, Anton T. J., Kreft, Iris C., Alphen, Floris P. J., Seneviratne, Suranjith L., Maimaris, Jesmeen, Luqmani, Asad, Leeuwen, Karin, Bruggen, Robin, Burns, Siobhan O., Kuijpers, Taco W.

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BET bromodomain inhibition by JQ1 suppresses interleukin-6 secretion in myeloma cells by Rohit, Ghurye, Helen, Stewart, Timothy, Chevassut

“…Abstract only…”
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Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data by Farmery, James H. R., Smith, Mike L., Lynch, Andy G.

“…A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper…”
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Successful rapid push subcutaneous desensitization in a patient with delayed local hypersensitivity reactions to immunoglobulins by Ghurye, Rohit R, Bright, Philip, Lowe, David, Buckland, Matthew S

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Successful Treatment of a Patient with Chronic Systemic Capillary Leak Syndrome, Neutropenia and Thymoma by Ghurye, Rohit R, Khan, Asim, Yung, Timothy, Kiani-Alikhan, Sorena, Pyne, Debasish, Grigoriadou, Sofia

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Novel ADA2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (DADA2) by Ghurye, Rohit R, Sundaram, Kruthika, Smith, Frances, Clark, Barnaby, Simpson, Michael A, Fairbanks, Lynette, Adhya, Zoe, Mufti, Ghulam J, Marsh, Judith C W, Ibrahim, Mohammad A A

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