Biallelic variants in DNA2 cause microcephalic primordial dwarfism

Authors: Tarnauskaitė, Žygimantė, Bicknell, Louise S., Marsh, Joseph A., Murray, Jennie E., Parry, David A., Logan, Clare V., Bober, Michael B., Silva, Deepthi C., Duker, Angela L., Sillence, David, Wise, Carol, Jackson, Andrew P., Murina, Olga, Reijns, Martin A. M.

Source: Human mutation. 40(8):1063-1070

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100087280498.0x000001&indx=1&recIds=ETOCvdc_100087280498.0x000001

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Authors: Logan, Clare V., Murray, Jennie E., Parry, David A., Robertson, Andrea, Bellelli, Roberto, Tarnauskaitė, Žygimantė, Challis, Rachel, Cleal, Louise, Borel, Valerie, Fluteau, Adeline, Santoyo-Lopez, Javier, Aitman, Tim, Barroso, Inês, Basel, Donald, Bicknell, Louise S., Goel, Himanshu, Hu, Hao, Huff, Chad, Hutchison, Michele, Joyce, Caroline, Knox, Rachel, Lacroix, Amy E., Langlois, Sylvie, McCandless, Shawn, McCarrier, Julie, Metcalfe, Kay A., Morrissey, Rose, Murphy, Nuala, Netchine, Irène, O'Connell, Susan M., Olney, Ann Haskins, Paria, Nandina, Rosenfeld, Jill A., Sherlock, Mark, Syverson, Erin, White, Perrin C., Wise, Carol, Yu, Yao, Zacharin, Margaret, Banerjee, Indraneel, Reijns, Martin, Bober, Michael B., Semple, Robert K., Boulton, Simon J., Rios, Jonathan J., Jackson, Andrew P.

Source: American journal of human genetics. 103(6):1038-1044

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100073209064.0x000001&indx=1&recIds=ETOCvdc_100073209064.0x000001

CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions

Authors: Zimmermann, Michal, Murina, Olga, Reijns, Martin, Agathanggelou, Angelo, Challis, Rachel, Tarnauskaitė, Žygimantė, Muir, Morwenna, Fluteau, Adeline, Aregger, Michael, McEwan, Andrea, Yuan, Wei, Clarke, Matthew, Lambros, Maryou, Paneesha, Shankara, Moss, Paul, Chandrashekhar, Megha, Angers, Stephane, Moffat, Jason, Brunton, Valerie, Hart, Traver, Bono, Johann, Stankovic, Tatjana, Jackson, Andrew, Durocher, Daniel

Source: Nature. 559(7713):285-289

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100171353587.0x000001&indx=1&recIds=ETOCvdc_100171353587.0x000001

Structure of the MeCP2–TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders

Authors: Kruusvee, Valdeko, Lyst, Matthew J., Taylor, Ceitidh, Tarnauskaitė, Žygimantė, Bird, Adrian P., Cook, Atlanta G.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2017 Apr . 114(16), E3243-E3250.

Access URL: https://www.jstor.org/stable/26480453

Ribonuclease H2 mutations induce a cGAS/STING‐dependent innate immune response

Authors: Mackenzie, Karen J, Carroll, Paula, Lettice, Laura, Tarnauskaitė, Žygimantė, Reddy, Kaalak, Dix, Flora, Revuelta, Ailsa, Abbondati, Erika, Rigby, Rachel E, Rabe, Björn, Kilanowski, Fiona, Grimes, Graeme, Fluteau, Adeline, Devenney, Paul S, Hill, Robert E, Reijns, Martin AM, Jackson, Andrew P

Source: EMBO journal. 35(8):831-844

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100186097429.0x000001&indx=1&recIds=ETOCvdc_100186097429.0x000001

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Authors: Aitman, Timothy J., Biankin, Andrew V., Cooke, Susanna L., Humphrey, Wendy Inglis, Martin, Sancha, Mennie, Lynne, Meynert, Alison, Miedzybrodzka, Zosia, Murphy, Fiona, Nourse, Craig, Santoyo-Lopez, Javier, Semple, Colin A., Williams, Nicola, Logan, Clare V., Murray, Jennie E., Parry, David A., Robertson, Andrea, Bellelli, Roberto, Tarnauskaitė, Žygimantė, Challis, Rachel, Cleal, Louise, Borel, Valerie, Fluteau, Adeline, Aitman, Tim, Barroso, Inês, Basel, Donald, Bicknell, Louise S., Goel, Himanshu, Hu, Hao, Huff, Chad, Hutchison, Michele, Joyce, Caroline, Knox, Rachel, Lacroix, Amy E., Langlois, Sylvie, McCandless, Shawn, McCarrier, Julie, Metcalfe, Kay A., Morrissey, Rose, Murphy, Nuala, Netchine, Irène, O’Connell, Susan M., Olney, Ann Haskins, Paria, Nandina, Rosenfeld, Jill A., Sherlock, Mark, Syverson, Erin, White, Perrin C., Wise, Carol, Yu, Yao, Zacharin, Margaret, Banerjee, Indraneel, Reijns, Martin, Bober, Michael B., Semple, Robert K., Boulton, Simon J., Rios, Jonathan J., Jackson, Andrew P.

Source: In The American Journal of Human Genetics 6 December 2018 103(6):1038-1044

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RNase H2, mutated in Aicardi‐Goutières syndrome, promotes LINE‐1 retrotransposition.

Authors: Benitez‐Guijarro, Maria, Lopez‐Ruiz, Cesar, Tarnauskaitė, Žygimantė, Murina, Olga, Mian Mohammad, Mahwish, Williams, Thomas C., Fluteau, Adeline, Sanchez, Laura, Vilar‐Astasio, Raquel, Garcia‐Canadas, Marta, Cano, David, Kempen, Marie‐Jeanne H. C., Sanchez‐Pozo, Antonio, Heras, Sara R., Jackson, Andrew P., Reijns, Martin A. M., Garcia‐Perez, Jose L.

Source: EMBO Journal; 8/1/2018, Vol. 37 Issue 15, p1-1, 22p, 16 Color Photographs, 2 Black and White Photographs, 1 Diagram, 1 Graph

Subject Terms: RIBONUCLEASE H, HUMAN genome, RETROTRANSPOSONS, AICARDI-Goutieres syndrome, IMMUNOLOGIC diseases

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Ribonuclease H2 mutations induce a cGAS/ STING-dependent innate immune response.

Authors: Mackenzie, Karen J, Carroll, Paula, Lettice, Laura, Tarnauskaitė, Žygimantė, Reddy, Kaalak, Dix, Flora, Revuelta, Ailsa, Abbondati, Erika, Rigby, Rachel E, Rabe, Björn, Kilanowski, Fiona, Grimes, Graeme, Fluteau, Adeline, Devenney, Paul S, Hill, Robert E, Reijns, Martin AM, Jackson, Andrew P

Source: EMBO Journal; 4/15/2016, Vol. 35 Issue 8, p831-844, 14p, 5 Graphs

Subject Terms: RIBONUCLEASE H, GENETIC mutation, NATURAL immunity, AICARDI-Goutieres syndrome, INFLAMMATION, NUCLEIC acids