The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development.

Authors: Suntharalingham, Jenifer P., del Valle, Ignacio, Buonocore, Federica, McGlacken-Byrne, Sinead M., Brooks, Tony, Ogunbiyi, Olumide K., Liptrot, Danielle, Dunton, Nathan, Madhan, Gaganjit K., Metcalfe, Kate, Nel, Lydia, Marshall, Abigail R., Ishida, Miho, Sebire, Neil J., Moore, Gudrun E., Crespo, Berta, Solanky, Nita, Conway, Gerard S., Achermann, John C.

Source: Communications Biology; 2/16/2025, Vol. 8 Issue 1, p1-19, 19p

Subject Terms: ASCENDING aorta aneurysms, LINCRNA, GENE expression, LIFE sciences, X chromosome

Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype

Authors: Polubothu, Satyamaanasa, Zecchin, Davide, Al-Olabi, Lara, Lionarons, Daniël A., Harland, Mark, Horswell, Stuart, Thomas, Anna C., Hunt, Lilian, Wlodarchak, Nathan, Aguilera, Paula, Brand, Sarah, Bryant, Dale, Carrera, Cristina, Chen, Hui, Elgar, Greg, Harwood, Catherine A., Howell, Michael, Larue, Lionel, Loughlin, Sam, MacDonald, Jeff, Malvehy, Josep, Barberan, Sara Martin, da Silva, Vanessa Martins, Molina, Miriam, Morrogh, Deborah, Moulding, Dale, Nsengimana, Jérémie, Pittman, Alan, Puig-Butillé, Joan-Anton, Parmar, Kiran, Sebire, Neil J., Scherer, Stephen, Stadnik, Paulina, Stanier, Philip, Tell, Gemma, Waelchli, Regula, Zarrei, Mehdi, Puig, Susana, Bataille, Véronique, Xing, Yongna, Healy, Eugene, Moore, Gudrun E., Di, Wei-Li, Newton-Bishop, Julia, Downward, Julian, Kinsler, Veronica A.

Source: In Genetics in Medicine September 2021 23(9):1636-1647

Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans

Authors: Demetriou, Charalambos, Chanudet, Estelle, Joseph, Agnel, Topf, Maya, Thomas, Anna C, Bitner-Glindzicz, Maria, Regan, Lesley, Stanier, Philip, Moore, Gudrun E

Source: Human molecular genetics. 28(20):3466-3474

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100096875814.0x000001&indx=1&recIds=ETOCvdc_100096875814.0x000001

Human Chromosome 7: DNA Sequence and Biology

Authors: Scherer, Stephen W., Cheung, Joseph, MacDonald, Jeffrey R., Osborne, Lucy R., Nakabayashi, Kazuhiko, Herbrick, Jo-Anne, Carson, Andrew R., Parker-Katiraee, Layla, Skaug, Jennifer, Khaja, Razi, Zhang, Junjun, Hudek, Alexander K., Li, Martin, Haddad, May, Duggan, Gavin E., Fernandez, Bridget A., Kanematsu, Emiko, Gentles, Simone, Christopoulos, Constantine C., Choufani, Sanaa, Kwasnicka, Dorota, Zheng, Xiangqun H., Lai, Zhongwu, Nusskern, Deborah, Zhang, Qing, Gu, Zhiping, Lu, Fu, Zeesman, Susan, Nowaczyk, Malgorzata J., Teshima, Ikuko, Chitayat, David, Shuman, Cheryl, Weksberg, Rosanna, Zackai, Elaine H., Grebe, Theresa A., Cox, Sarah R., Kirkpatrick, Susan J., Rahman, Nazneen, Friedman, Jan M., Pelicci, Pier Giuseppe, Lo-Coco, Francesco, Belloni, Elena, Shaffer, Lisa G., Pober, Barbara, Morton, Cynthia C., Gusella, James F., Korf, Bruce R., Quade, Bradley J., Ligon, Azra H., Ferguson, Heather, Higgins, Anne W., Leach, Natalia T., Herrick, Steven R., Lemyre, Emmanuelle, Farra, Chantal G., Kim, Hyung-Goo, Summers, Anne M., Gripp, Karen W., Roberts, Wendy, Szatmari, Peter, Grzeschik, Karl-Heinz, Teebi, Ahmed, Minassian, Berge A., Kere, Juha, Armengol, Lluis, Pujana, Miguel Angel, Estivill, Xavier, Wilson, Michael D., Koop, Ben F., Tosi, Sabrina, Moore, Gudrun E., Boright, Andrew P., Zlotorynski, Eitan, Kerem, Batsheva, Kroisel, Peter M., Petek, Erwin, Oscier, David G., Mould, Sarah J., Döhner, Hartmut, Döhner, Konstanze, Rommens, Johanna M., Vincent, John B., Venter, J. Craig, Li, Peter W., Mural, Richard J., Adams, Mark D., Tsui, Lap-Chee

Source: Science, 2003 May 01. 300(5620), 767-772.

Access URL: https://www.jstor.org/stable/3834252

A new biological and clinical resource for research into pregnancy complications: The Baby Bio Bank

Authors: Leon, Lydia J., Solanky, Nita, Stalman, Susanne E., Demetriou, Charalambos, Abu-Amero, Sayeda, Stanier, Philip, Regan, Lesley, Moore, Gudrun E.

Source: In Placenta October 2016 46:31-37

Investigation of the Annexin A5 M2 haplotype in 500 white European couples who have experienced recurrent spontaneous abortion

Authors: Demetriou, Charalambos ^*, Abu-amero, Sayeda, White, Shawnelle, Peskett, Emma, Markoff, Arseni, Stanier, Philip, Moore, Gudrun E., Regan, Lesley

Source: In Reproductive BioMedicine Online November 2015 31(5):681-688

The role and interaction of imprinted genes in human fetal growth

Authors: Moore, Gudrun E., Ishida, Miho, Demetriou, Charalambos, Al-Olabi, Lara, Leon, Lydia J., Thomas, Anna C., Abu-Amero, Sayeda, Frost, Jennifer M., Stafford, Jaime L., Chaoqun, Yao, Duncan, Andrew J., Baigel, Rachel, Brimioulle, Marina, Iglesias-Platas, Isabel, Apostolidou, Sophia, Aggarwal, Reena, Whittaker, John C., Syngelaki, Argyro, Nicolaides, Kypros H., Regan, Lesley, Monk, David, Stanier, Philip

Source: Philosophical Transactions: Biological Sciences, 2015 Mar 01. 370(1663), 1-12.

Access URL: http://www.jstor.org/stable/24504284

Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS

Authors: Kinsler, Veronica A. ^*, Thomas, Anna C., Ishida, Miho, Bulstrode, Neil W., Loughlin, Sam, Hing, Sandra, Chalker, Jane, McKenzie, Kathryn, Abu-Amero, Sayeda, Slater, Olga, Chanudet, Estelle, Palmer, Rodger, Morrogh, Deborah, Stanier, Philip, Healy, Eugene, Sebire, Neil J., Moore, Gudrun E.

Source: In Journal of Investigative Dermatology September 2013 133(9):2229-2236

Imprinted Chromatin around DIRAS3 Regulates Alternative Splicing of GNG12-AS1, a Long Noncoding RNA

Authors: Niemczyk, Malwina, Ito, Yoko, Huddleston, Joanna, Git, Anna, Abu-Amero, Sayeda, Caldas, Carlos, Moore, Gudrun E., Stojic, Lovorka, Murrell, Adele

Source: In The American Journal of Human Genetics 8 August 2013 93(2):224-235

The role of imprinted genes in humans

Authors: Ishida, Miho, Moore, Gudrun E.

Source: In Molecular Aspects of Medicine July-August 2013 34(4):826-840

Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations

Authors: Bryant, Dale, Seda, Marian, Peskett, Emma, Maurer, Constance, Pomeranz, Gideon, Ghosh, Marcus, Hawkins, Thomas A., Cleak, James, Datta, Sanchari, Hariri, Hanaa, Eckert, Kaitlyn M., Jafree, Daniyal J., Walsh, Claire, Demetriou, Charalambos, Ishida, Miho, Alemán-Charlet, Cristina, Vestito, Letizia, Seselgyte, Rimante, McDonald, Jeffrey G., Bitner-Glindzicz, Maria, Hemberger, Myriam, Rihel, Jason, Teboul, Lydia, Henne, W. Mike, Jenkins, Dagan, Moore, Gudrun E., Stanier, Philip

Source: Scientific reports. 10(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100174654969.0x000001&indx=1&recIds=ETOCvdc_100174654969.0x000001

Germline Melanocortin-1-Receptor Genotype Is Associated with Severity of Cutaneous Phenotype in Congenital Melanocytic Nevi: A Role for MC1R in Human Fetal Development

Authors: Kinsler, Veronica A. ^*, Abu-Amero, Sayeda, Budd, Peter, Jackson, Ian J., Ring, Susan M., Northstone, Kate, Atherton, David J., Bulstrode, Neil W., Stanier, Philip, Hennekam, Raoul C., Sebire, Neil J., Moore, Gudrun E., Healy, Eugene ^*

Source: In Journal of Investigative Dermatology August 2012 132(8):2026-2032

Maternal Inheritance of a Promoter Variant in the Imprinted PHLDA2 Gene Significantly Increases Birth Weight

Authors: Ishida, M., Monk, D., Duncan, Andrew J., Abu-Amero, S., Chong, J., Ring, Susan M., Pembrey, Marcus E., Hindmarsh, Peter C., Whittaker, John C., Stanier, P., Moore, Gudrun E.

Source: AMERICAN JOURNAL OF HUMAN GENETICS. 90(4):715-719

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN309879026&indx=1&recIds=ETOCRN309879026

The emerging role of epigenetic mechanisms in the etiology of neural tube defects

Authors: Greene, Nicholas D.E., Stanier, Philip, Moore, Gudrun E.

Source: Epigenetics. 6(7):875-883

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100053904477.0x000001&indx=1&recIds=ETOCvdc_100053904477.0x000001

The effects of culture on genomic imprinting profiles in human embryonic and fetal mesenchymal stem cells

Authors: Frost, Jennifer M., Monk, Dave, Moschidou, Dafni, Guillot, Pascale V., Stanier, Philip, Minger, Stephen L., Fisk, Nicholas M., Moore, Harry D., Moore, Gudrun E.

Source: Epigenetics. 6(1):52-62

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100053917159.0x000001&indx=1&recIds=ETOCvdc_100053917159.0x000001

Functional Variants of the Central Bile Acid Sensor FXR Identified in Intrahepatic Cholestasis of Pregnancy

Authors: van Mil, Saskia W.C., Milona, Alexandra, Dixon, Peter H., Mullenbach, Roman, Geenes, Victoria L., Chambers, Jenny, Shevchuk, Vasylyna, Moore, Gudrun E., Lammert, Frank, Glantz, Anna G., Mattsson, Lars–Åke, Whittaker, John, Parker, Malcolm G., White, Roger, Williamson, Catherine

Source: In Gastroenterology August 2007 133(2):507-516

TBX22 Missense Mutations Found in Patients with X-Linked Cleft Palate Affect DNA Binding, Sumoylation, and Transcriptional Repression

Authors: Andreou, Artemisia M., Pauws, Erwin, Jones, Marius C., Singh, Manvendra K., Bussen, Markus, Doudney, Kit, Moore, Gudrun E., Kispert, Andreas, Brosens, Jan J., Stanier, Philip

Source: In The American Journal of Human Genetics 2007 81(4):700-712

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.

Authors: Suntharalingham, Jenifer P., Ishida, Miho, Del Valle, Ignacio, Stalman, Susanne E., Solanky, Nita, Wakeling, Emma, Moore, Gudrun E., Achermann, John C., Buonocore, Federica

Source: Frontiers in Endocrinology; 8/18/2022, Vol. 13, p1-14, 14p

Subject Terms: SMALL for gestational age, OPTICAL illusions, FETAL growth retardation, HYPOSPADIAS, RECURRENT miscarriage, MISCARRIAGE

Tissue- and ethnicity-independent hypervariable DNA methylation states show evidence of establishment in the early human embryo.

Authors: Derakhshan, Maria, Kessler, Noah J, Ishida, Miho, Demetriou, Charalambos, Brucato, Nicolas, Moore, Gudrun E, Fall, Caroline H D, Chandak, Giriraj R, Ricaut, Francois-Xavier, Prentice, Andrew M, Hellenthal, Garrett, Silver, Matt J

Source: Nucleic Acids Research; 7/8/2022, Vol. 50 Issue 12, p6735-6752, 18p

Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies

Authors: Zhou, Haiyan, Brockington, Martin, Jungbluth, Heinz, Monk, David, Stanier, Philip, Sewry, Caroline A., Moore, Gudrun E., Muntoni, Francesco

Source: In The American Journal of Human Genetics 2006 79(5):859-868