Search Results - "Dunwoodie, Sally L"

The Role of Hypoxia in Development of the Mammalian Embryo by Dunwoodie, Sally L.

“…Hypoxia inducible factor (HIF) is a transcription factor that acts in low-oxygen conditions. The cellular response to HIF activation is transcriptional…”
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SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation by Whitelaw, Emma, Blewitt, Marnie E, Gendrel, Anne-Valerie, Pang, Zhenyi, Sparrow, Duncan B, Whitelaw, Nadia, Craig, Jeffrey M, Apedaile, Anwyn, Hilton, Douglas J, Dunwoodie, Sally L, Brockdorff, Neil, Kay, Graham F

“…X-chromosome inactivation is the mammalian dosage compensation mechanism by which transcription of X-linked genes is equalized between females and males. In an…”
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A Mechanism for Gene-Environment Interaction in the Etiology of Congenital Scoliosis by Sparrow, Duncan B., Chapman, Gavin, Smith, Allanceson J., Mattar, Muhammad Z., Major, Joelene A., O'Reilly, Victoria C., Saga, Yumiko, Zackai, Elaine H., Dormans, John P., Alman, Benjamin A., McGregor, Lesley, Kageyama, Ryoichiro, Kusumi, Kenro, Dunwoodie, Sally L.

“…Congenital scoliosis, a lateral curvature of the spine caused by vertebral defects, occurs in approximately 1 in 1,000 live births. Here we demonstrate that…”
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CITED2 inhibits STAT1‐IRF1 signaling and atherogenesis by Zafar, Atif, Pong Ng, Hang, Diamond‐Zaluski, Rachel, Kim, Gun‐Dong, Ricky Chan, Ernest, Dunwoodie, Sally L., Smith, Jonathan D., Mahabeleshwar, Ganapati H.

“…Macrophages are the principal component of the innate immune system. They play very crucial and multifaceted roles in the pathogenesis of inflammatory vascular…”
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Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice by Cuny, Hartmut, Bozon, Kayleigh, Kirk, Rosemary B, Sheng, Delicia Z, Bröer, Stefan, Dunwoodie, Sally L

“…Nicotinamide adenine dinucleotide (NAD) is a key metabolite synthesised from vitamin B3 or tryptophan. Disruption of genes encoding NAD synthesis enzymes…”
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CITED2 limits pathogenic inflammatory gene programs in myeloid cells by Pong Ng, Hang, Kim, Gun‐Dong, Ricky Chan, E., Dunwoodie, Sally L., Mahabeleshwar, Ganapati H.

“…Monocyte‐derived macrophages are the major innate immune cells that provide the first line of cellular defense against infections or injuries. These recruited…”
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Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease by Blue, Gillian M., MSc, Kirk, Edwin P., MBBS, PhD, Giannoulatou, Eleni, MEng, MPhil, DPhil, Dunwoodie, Sally L., PhD, Ho, Joshua W.K., PhD, Hilton, Desiree C.K., PhD, White, Susan M., MBBS, Sholler, Gary F., MBBS (Hons), Harvey, Richard P., PhD, Winlaw, David S., MBBS, MD

“…Abstract Background Many genes have been implicated in the development of congenital heart disease (CHD). Next-generation sequencing offers opportunities for…”
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ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data by Gudkov, Mikhail, Thibaut, Loïc, Khushi, Matloob, Blue, Gillian M, Winlaw, David S, Dunwoodie, Sally L, Giannoulatou, Eleni

“…A wide range of tools are available for the detection of copy number variants (CNVs) from whole-genome sequencing (WGS) data. However, none of them focus on…”
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A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data by Szot, Justin O, Cuny, Hartmut, Blue, Gillian M, Humphreys, David T, Ip, Eddie, Harrison, Katrina, Sholler, Gary F, Giannoulatou, Eleni, Leo, Paul, Duncan, Emma L, Sparrow, Duncan B, Ho, Joshua W K, Graham, Robert M, Pachter, Nicholas, Chapman, Gavin, Winlaw, David S, Dunwoodie, Sally L

“…Congenital heart disease (CHD)-structural abnormalities of the heart that arise during embryonic development-is the most common inborn malformation, affecting…”
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SVPV: a structural variant prediction viewer for paired-end sequencing datasets by Munro, Jacob E, Dunwoodie, Sally L, Giannoulatou, Eleni

“…A wide range of algorithms exist for the prediction of structural variants (SVs) from paired-end whole genome sequencing (WGS) alignments. It is essential for…”
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The pro-death role of Cited2 in stroke is regulated by E2F1/4 transcription factors by Huang, Tianwen, González, Yasmilde Rodríguez, Qu, Dianbo, Huang, En, Safarpour, Farzaneh, Wang, Eugene, Joselin, Alvin, Im, Doo Soon, Callaghan, Steve M., Boonying, Wassamon, Julian, Lisa, Dunwoodie, Sally L., Slack, Ruth S., Park, David S.

“…We previously reported that the cell cycle–related cyclin-dependent kinase 4–retinoblastoma (RB) transcriptional corepressor pathway is essential for…”
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Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application by Ip, Eddie K K, Troup, Michael, Xu, Colin, Winlaw, David S, Dunwoodie, Sally L, Giannoulatou, Eleni

“…Mitochondrial DNA (mtDNA) mutations contribute to human disease across a range of severity, from rare, highly penetrant mutations causal for monogenic…”
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VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants by Ip, Eddie, Chapman, Gavin, Winlaw, David, Dunwoodie, Sally L., Giannoulatou, Eleni

“…Next-generation sequencing (NGS) technologies generate thousands to millions of genetic variants per sample. Identification of potential disease-causal…”
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The role of Notch in patterning the human vertebral column by Dunwoodie, Sally L

“…The components of the Notch signaling pathway and the mechanics of signal transduction have largely been established in Drosophila . Although essential for…”
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Cited2 is required in trophoblasts for correct placental capillary patterning by Moreau, Julie L.M., Artap, Stanley T., Shi, Hongjun, Chapman, Gavin, Leone, Gustavo, Sparrow, Duncan B., Dunwoodie, Sally L.

“…CITED2 is a transcriptional co-factor with important roles in many organs of the developing mammalian embryo. Complete deletion of this gene causes severe…”
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Myeloid-CITED2 Deficiency Exacerbates Diet-Induced Obesity and Pro-Inflammatory Macrophage Response by Zafar, Atif, Ng, Hang Pong, Chan, E. Ricky, Dunwoodie, Sally L, Mahabeleshwar, Ganapati H

“…Macrophages are the principal component of the innate immune system that are found in all tissues and play an essential role in development, homeostasis,…”
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NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets by Bouveret, Romaric, Waardenberg, Ashley J, Schonrock, Nicole, Ramialison, Mirana, Doan, Tram, de Jong, Danielle, Bondue, Antoine, Kaur, Gurpreet, Mohamed, Stephanie, Fonoudi, Hananeh, Chen, Chiann-Mun, Wouters, Merridee A, Bhattacharya, Shoumo, Plachta, Nicolas, Dunwoodie, Sally L, Chapman, Gavin, Blanpain, Cédric, Harvey, Richard P

“…We take a functional genomics approach to congenital heart disease mechanism. We used DamID to establish a robust set of target genes for NKX2-5 wild type and…”
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Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line by Moradi Marjaneh, Mahdi, Kirk, Edwin P, Patrick, Ralph, Alankarage, Dimuthu, Humphreys, David T, Del Monte-Nieto, Gonzalo, Cornejo-Paramo, Paola, Janbandhu, Vaibhao, Doan, Tram B, Dunwoodie, Sally L, Wong, Emily S, Moran, Chris, Martin, Ian C A, Thomson, Peter C, Harvey, Richard P

“…Unlike single-gene mutations leading to Mendelian conditions, common human diseases are likely to be emergent phenomena arising from multilayer, multiscale,…”
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Divergent functions and distinct localization of the Notch ligands DLL1 and DLL3 in vivo by Geffers, Insa, Serth, Katrin, Chapman, Gavin, Jaekel, Robert, Schuster-Gossler, Karin, Cordes, Ralf, Sparrow, Duncan B, Kremmer, Elisabeth, Dunwoodie, Sally L, Klein, Thomas, Gossler, Achim

“…The Notch ligands Dll1 and Dll3 are coexpressed in the presomitic mesoderm of mouse embryos. Despite their coexpression, mutations in Dll1 and Dll3 cause…”
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An image analysis protocol using CellProfiler for automated quantification of post-ischemic cardiac parameters by Ward, Alexander O., Janbandhu, Vaibhao, Chapman, Gavin, Dunwoodie, Sally L., Harvey, Richard P.

“…Quantitative assessment of post-ischemic cardiac remodeling is often hampered by tissue complexity and structural heterogeneity of the scar. Automated…”
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