Search Results - "BABBS, Christian"

A tissue-specific self-interacting chromatin domain forms independently of enhancer-promoter interactions by Brown, Jill M., Roberts, Nigel A., Graham, Bryony, Waithe, Dominic, Lagerholm, Christoffer, Telenius, Jelena M., De Ornellas, Sara, Oudelaar, A. Marieke, Scott, Caroline, Szczerbal, Izabela, Babbs, Christian, Kassouf, Mira T., Hughes, Jim R., Higgs, Douglas R., Buckle, Veronica J.

“…Self-interacting chromatin domains encompass genes and their cis -regulatory elements; however, the three-dimensional form a domain takes, whether this relies…”
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Mechanical properties of calvarial bones in a mouse model for craniosynostosis by Moazen, Mehran, Peskett, Emma, Babbs, Christian, Pauws, Erwin, Fagan, Michael J

“…The mammalian cranial vault largely consists of five flat bones that are joined together along their edges by soft fibrous tissues called sutures. Premature…”
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A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias by Roy, Noémi B. A., Wilson, Edward A., Henderson, Shirley, Wray, Katherine, Babbs, Christian, Okoli, Steven, Atoyebi, Wale, Mixon, Avery, Cahill, Mary R., Carey, Peter, Cullis, Jonathan, Curtin, Julie, Dreau, Helene, Ferguson, David J. P., Gibson, Brenda, Hall, Georgina, Mason, Joanne, Morgan, Mary, Proven, Melanie, Qureshi, Amrana, Sanchez Garcia, Joaquin, Sirachainan, Nongnuch, Teo, Juliana, Tedgård, Ulf, Higgs, Doug, Roberts, David, Roberts, Irene, Schuh, Anna

“…Summary Accurate diagnosis of rare inherited anaemias is challenging, requiring a series of complex and expensive laboratory tests. Targeted…”
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Predicting calvarial growth in normal and craniosynostotic mice using a computational approach by Marghoub, Arsalan, Libby, Joseph, Babbs, Christian, Pauws, Erwin, Fagan, Michael J., Moazen, Mehran

“…During postnatal calvarial growth the brain grows gradually and the overlying bones and sutures accommodate that growth until the later juvenile stages. The…”
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Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia by Harteveld, Cornelis L, Achour, Ahlem, Fairuz Mohd Hasan, Nik Fatma, Legebeke, Jelmer, Arkesteijn, Sandra J G, Huurne, Jeanet Ter, Verschuren, Maaike, Bhagwandien-Bisoen, Sharda, Schaap, Rianne, Vijfhuizen, Linda, Idrissi, Hakima El, Babbs, Christian, Higgs, Douglas R, Koopmann, Tamara T, Vrettou, Christina, Traeger-Synodinos, Joanne, Baas, Frank

“…It is well known that modifiers play a role in ameliorating or exacerbating disease phenotypes in patients and carriers of recessively inherited disorders such…”
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Reactivation of a developmentally silenced embryonic globin gene by King, Andrew J., Songdej, Duantida, Downes, Damien J., Beagrie, Robert A., Liu, Siyu, Buckley, Megan, Hua, Peng, Suciu, Maria C., Marieke Oudelaar, A., Hanssen, Lars L. P., Jeziorska, Danuta, Roberts, Nigel, Carpenter, Stephanie J., Francis, Helena, Telenius, Jelena, Olijnik, Aude-Anais, Sharpe, Jacqueline A., Sloane-Stanley, Jacqueline, Eglinton, Jennifer, Kassouf, Mira T., Orkin, Stuart H., Pennacchio, Len A., Davies, James O. J., Hughes, Jim R., Higgs, Douglas R., Babbs, Christian

“…The α- and β-globin loci harbor developmentally expressed genes, which are silenced throughout post-natal life. Reactivation of these genes may offer…”
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Scalable in vitro production of defined mouse erythroblasts by Francis, Helena S, Harold, Caroline L, Beagrie, Robert A, King, Andrew J, Gosden, Matthew E, Blayney, Joseph W, Jeziorska, Danuta M, Babbs, Christian, Higgs, Douglas R, Kassouf, Mira T

“…Mouse embryonic stem cells (mESCs) can be manipulated in vitro to recapitulate the process of erythropoiesis, during which multipotent cells undergo lineage…”
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Mutations in Krüppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression by Viprakasit, Vip, Ekwattanakit, Supachai, Riolueang, Suchada, Chalaow, Nipon, Fisher, Chris, Lower, Karen, Kanno, Hitoshi, Tachavanich, Kalaya, Bejrachandra, Sasithorn, Saipin, Jariya, Juntharaniyom, Monthana, Sanpakit, Kleebsabai, Tanphaichitr, Voravarn S., Songdej, Duantida, Babbs, Christian, Gibbons, Richard J., Philipsen, Sjaak, Higgs, Douglas R.

“…In this study, we report on 8 compound heterozygotes for mutations in the key erythroid transcription factor Krüppel-like factor 1 in patients who presented…”
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Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities by Scott, Caroline, Downes, Damien J, Brown, Jill M, Beagrie, Robert, Olijnik, Aude-Anais, Gosden, Matthew, Schwessinger, Ron, Fisher, Christopher A, Rose, Anna, Ferguson, David J P, Johnson, Errin, Hill, Quentin A, Okoli, Steven, Renella, Raffaele, Ryan, Kate, Brand, Marjorie, Hughes, Jim, Roy, Noemi B A, Higgs, Douglas R, Babbs, Christian, Buckle, Veronica J

“…The investigation of inherited disorders of erythropoiesis has elucidated many of the principles underlying the production of normal red blood cells and how…”
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Mutations of Ephrin-B1 (EFNB1), a Marker of Tissue Boundary Formation, Cause Craniofrontonasal Syndrome by Stephen R. F. Twigg, Kan, Rui, Babbs, Christian, Bochukova, Elena G., Robertson, Stephen P., Wall, Steven A., Morriss-Kay, Gillian M., Andrew O. M. Wilkie, Weatherall, David

“…Craniofrontonasal syndrome (CFNS) is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous…”
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The incredible ULK improves β-thalassemia by Babbs, Christian

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Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I by Babbs, C., Roberts, N. A., Sanchez-Pulido, L., McGowan, S. J., Ahmed, M. R., Brown, J. M., Sabry, M. A., Bentley, D. R., McVean, G. A., Donnelly, P., Gileadi, O., Ponting, C. P., Higgs, D. R., Buckle, V. J.

“…The congenital dyserythropoietic anemias are a heterogeneous group of rare disorders primarily affecting erythropoiesis with characteristic morphological…”
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The Craniofacial Phenotype of the Crouzon Mouse: Analysis of a Model for Syndromic Craniosynostosis Using Three-Dimensional MicroCT by Perlyn, Chad A., DeLeon, Valerie B., Babbs, Christian, Govier, Daniel, Burell, Lance, Darvann, Tron, Kreiborg, Sven, Morriss-Kay, Gillian

“…Objective: To characterize the craniofacial phenotype of a mouse model for Crouzon syndrome by a quantitative analysis of skull morphology in mutant and…”
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Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes by Twigg, Stephen R.F., Babbs, Christian, van den Elzen, Marijke E.P., Goriely, Anne, Taylor, Stephen, McGowan, Simon J., Giannoulatou, Eleni, Lonie, Lorne, Ragoussis, Jiannis, Akha, Elham Sadighi, Knight, Samantha J.L., Zechi-Ceide, Roseli M., Hoogeboom, Jeannette A.M., Pober, Barbara R., Toriello, Helga V., Wall, Steven A., Rita Passos-Bueno, M., Brunner, Han G., Mathijssen, Irene M.J., Wilkie, Andrew O.M.

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An international registry of survivors with Hb Bart's hydrops fetalis syndrome by Songdej, Duantida, Babbs, Christian, Higgs, Douglas R.

“…Hemoglobin (Hb) Bart's hydrops fetalis syndrome (BHFS) resulting from α0-thalassemia is considered a universally fatal disorder. However, over the last 3…”
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Skeletal analysis of the Fgfr3P244R mouse, a genetic model for the Muenke craniosynostosis syndrome by Twigg, Stephen R. F., Healy, Chris, Babbs, Christian, Sharpe, Jacqueline A., Wood, William G., Sharpe, Paul T., Morriss‐Kay, Gillian M., Wilkie, Andrew O. M.

“…Muenke syndrome, defined by heterozygosity for a Pro250Arg substitution in fibroblast growth factor receptor 3 (FGFR3), is the most common genetic cause of…”
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Hemoglobin Bart’s hydrops fetalis: charting the past and envisioning the future by Amid, Ali, Liu, Siyu, Babbs, Christian, Higgs, Douglas R.

“…[Display omitted] Hemoglobin Bart’s hydrops fetalis syndrome (BHFS) represents the most severe form of α-thalassemia, arising from deletion of the duplicated…”
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The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I by Roy, Noémi B. A., Babbs, Christian

“…Summary Congenital dyserythropoietic anaemia type I (CDA‐I) is one of a heterogeneous group of inherited anaemias characterised by ineffective erythropoiesis…”
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Super-enhancers include classical enhancers and facilitators to fully activate gene expression by Blayney, Joseph W, Francis, Helena, Rampasekova, Alexandra, Camellato, Brendan, Mitchell, Leslie, Stolper, Rosa, Cornell, Lucy, Babbs, Christian, Boeke, Jef D, Higgs, Douglas R, Kassouf, Mira

“…Super-enhancers are compound regulatory elements that control expression of key cell identity genes. They recruit high levels of tissue-specific transcription…”
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Genetic dissection of the α-globin super-enhancer in vivo by Hay, Deborah, Hughes, Jim R, Babbs, Christian, Davies, James O J, Graham, Bryony J, Hanssen, Lars L P, Kassouf, Mira T, Oudelaar, A Marieke, Sharpe, Jacqueline A, Suciu, Maria C, Telenius, Jelena, Williams, Ruth, Rode, Christina, Li, Pik-Shan, Pennacchio, Len A, Sloane-Stanley, Jacqueline A, Ayyub, Helena, Butler, Sue, Sauka-Spengler, Tatjana, Gibbons, Richard J, Smith, Andrew J H, Wood, William G, Higgs, Douglas R

“…Douglas Higgs and colleagues functionally test the α-globin super-enhancer in mice by genetically deleting its constituent enhancers. They find that the…”
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