Search Results - "Bicknell, S"

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis by Martin, Carol-Anne, Murray, Jennie E, Carroll, Paula, Leitch, Andrea, Mackenzie, Karen J, Halachev, Mihail, Fetit, Ahmed E, Keith, Charlotte, Bicknell, Louise S, Fluteau, Adeline, Gautier, Philippe, Hall, Emma A, Joss, Shelagh, Soares, Gabriela, Silva, João, Bober, Michael B, Duker, Angela, Wise, Carol A, Quigley, Alan J, Phadke, Shubha R, Wood, Andrew J, Vagnarelli, Paola, Jackson, Andrew P

“…Compaction of chromosomes is essential for accurate segregation of the genome during mitosis. In vertebrates, two condensin complexes ensure timely chromosome…”
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Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism by Murray, Jennie E., van der Burg, Mirjam, IJspeert, Hanna, Carroll, Paula, Wu, Qian, Ochi, Takashi, Leitch, Andrea, Miller, Edward S., Kysela, Boris, Jawad, Alireza, Bottani, Armand, Brancati, Francesco, Cappa, Marco, Cormier-Daire, Valerie, Deshpande, Charu, Faqeih, Eissa A., Graham, Gail E., Ranza, Emmanuelle, Blundell, Tom L., Jackson, Andrew P., Stewart, Grant S., Bicknell, Louise S.

“…Non-homologous end joining (NHEJ) is a key cellular process ensuring genome integrity. Mutations in several components of the NHEJ pathway have been…”
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Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome by Bicknell, Louise S, Walker, Sarah, Klingseisen, Anna, Stiff, Tom, Leitch, Andrea, Kerzendorfer, Claudia, Martin, Carol-Anne, Yeyati, Patricia, Al Sanna, Nouriya, Bober, Michael, Johnson, Diana, Wise, Carol, Jackson, Andrew P, O'Driscoll, Mark, Jeggo, Penny A

“…Mark O'Driscoll, Andrew Jackson and colleagues report the identification of mutations in ORC1 in individuals with microcephalic primordial dwarfism. ORC1…”
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Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis by Fenwick, Aimee L., Kliszczak, Maciej, Cooper, Fay, Murray, Jennie, Sanchez-Pulido, Luis, Twigg, Stephen R.F., Goriely, Anne, McGowan, Simon J., Miller, Kerry A., Taylor, Indira B., Logan, Clare, Bozdogan, Sevcan, Danda, Sumita, Dixon, Joanne, Elsayed, Solaf M., Elsobky, Ezzat, Gardham, Alice, Hoffer, Mariette J.V., Koopmans, Marije, McDonald-McGinn, Donna M., Santen, Gijs W.E., Savarirayan, Ravi, de Silva, Deepthi, Vanakker, Olivier, Wall, Steven A., Wilson, Louise C., Yuregir, Ozge Ozalp, Zackai, Elaine H., Ponting, Chris P., Jackson, Andrew P., Wilkie, Andrew O.M., Niedzwiedz, Wojciech, Bicknell, Louise S.

“…DNA replication precisely duplicates the genome to ensure stable inheritance of genetic information. Impaired licensing of origins of replication during the G1…”
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Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency by Murray, Jennie E., Bicknell, Louise S., Yigit, Gökhan, Duker, Angela L., van Kogelenberg, Margriet, Haghayegh, Sara, Wieczorek, Dagmar, Kayserili, Hülya, Albert, Michael H., Wise, Carol A., Brandon, January, Kleefstra, Tjitske, Warris, Adilia, van der Flier, Michiel, Bamforth, J. Steven, Doonanco, Kurston, Adès, Lesley, Ma, Alan, Field, Michael, Johnson, Diana, Shackley, Fiona, Firth, Helen, Woods, C. Geoffrey, Nürnberg, Peter, Gatti, Richard A., Hurles, Matthew, Bober, Michael B., Wollnik, Bernd, Jackson, Andrew P.

“…ABSTRACT Ligase IV syndrome is a rare differential diagnosis for Nijmegen breakage syndrome owing to a shared predisposition to lympho‐reticular malignancies,…”
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Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome by Llorens‐Agost, Marta, Luessing, Janna, Beneden, Amandine, Eykelenboom, John, O'Reilly, Dawn, Bicknell, Louise S, Reynolds, John J, Koegelenberg, Marianne, Hurles, Matthew E, Brady, Angela F, Jackson, Andrew P, Stewart, Grant S, Lowndes, Noel F

“…Ataxia Telangiectasia and Rad3 related (ATR) is one of the main regulators of the DNA damage response. It coordinates cell cycle checkpoint activation,…”
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Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability by Knapp, Karen M, Luu, Rebecca, Baerenfaenger, Melissa, Zijlstra, Fokje, Wessels, Hans J C T, Jenkins, Danielle, Lefeber, Dirk J, Neas, Katherine, Bicknell, Louise S

“…Variants in SLC35C1 underlie leucocyte adhesion deficiency (LADII) or congenital disorder of glycosylation type 2c (CDGIIc), an autosomal recessive disorder of…”
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The molecular genetics of nELAVL in brain development and disease by Mulligan, Meghan R, Bicknell, Louise S

“…Abstract Embryonic development requires tight control of gene expression levels, activity, and localisation. This control is coordinated by multiple levels of…”
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Cerebral organoids model human brain development and microcephaly by Lancaster, Madeline A., Renner, Magdalena, Martin, Carol-Anne, Wenzel, Daniel, Bicknell, Louise S., Hurles, Matthew E., Homfray, Tessa, Penninger, Josef M., Jackson, Andrew P., Knoblich, Juergen A.

“…The complexity of the human brain has made it difficult to study many brain disorders in model organisms, highlighting the need for an in vitro model of human…”
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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB by Bicknell, Louise S, Farrington-Rock, Claire, Shafeghati, Yousef, Rump, Patrick, Alanay, Yasemin, Alembik, Yves, Al-Madani, Navid, Firth, Helen, Karimi-Nejad, Mohammad Hassan, Kim, Chong Ae, Leask, Kathryn, Maisenbacher, Melissa, Moran, Ellen, Pappas, John G, Prontera, Paolo, de Ravel, Thomy, Fryns, Jean-Pierre, Sweeney, Elizabeth, Fryer, Alan, Unger, Sheila, Wilson, L C, Lachman, Ralph S, Rimoin, David L, Cohn, Daniel H, Krakow, Deborah, Robertson, Stephen P

“…Background: Larsen syndrome is an autosomal dominant osteochondrodysplasia characterised by large-joint dislocations and craniofacial anomalies. Recently,…”
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Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome by Carter, Shannon, Fellows, Bridget J, Gibson, Kate, Bicknell, Louise S

“…Oculo-auriculo-vertebral syndrome (OAVS) is a clinically heterogeneous disorder, with both genetic and environmental contributors. Multiple genes have been…”
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Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes by HUANG-DORAN, Isabel, BICKNELL, Louise S, BOBER, Michael, O'RAHILLY, Stephen, JACKSON, Andrew P, SEMPLE, Robert K, FINUCANE, Francis M, ROCHA, Nuno, PORTER, Keith M, TUNG, Y. C. Loraine, SZEKERES, Ferenc, KROOK, Anna, NOLAN, John J, O'DRISCOLL, Mark

“…Genetic defects in human pericentrin (PCNT), encoding the centrosomal protein pericentrin, cause a form of osteodysplastic primordial dwarfism that is…”
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Mutations in FLNB cause boomerang dysplasia by Bicknell, L S, Morgan, T, Bonafé, L, Wessels, M W, Bialer, M G, Willems, P J, Cohn, D H, Krakow, D, Robertson, S P

“…Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia, characterised by absence or underossification of the limb bones and vertebrae. The BD…”
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Histones: coming of age in Mendelian genetic disorders by Knapp, Karen, Naik, Nihar, Ray, Sankalita, van Haaften, Gijs, Bicknell, Louise S

“…Histones hold significant interest in development and genetic disorders due to their critical roles in chromatin dynamics, influencing gene expression and…”
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The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome by Nielsen-Dandoroff, Emily, Ruegg, Mischa S G, Bicknell, Louise S

“…High-throughput sequencing has become a standard first-tier approach for both diagnostics and research-based genetic testing. Consequently, this…”
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Rare variants of the 3'-5' DNA exonuclease TREX1 in early onset small vessel stroke by McGlasson, Sarah, Rannikmäe, Kristiina, Bevan, Steven, Logan, Clare, Bicknell, Louise S, Jury, Alexa, Jackson, Andrew P, Markus, Hugh S, Sudlow, Cathie, Hunt, David P J

“…Monoallelic and biallelic mutations in the exonuclease cause monogenic small vessel diseases (SVD). Given recent evidence for genetic and pathophysiological…”
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Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome by Knapp, Karen M, Sullivan, Rosie, Murray, Jennie, Gimenez, Gregory, Arn, Pamela, D'Souza, Precilla, Gezdirici, Alper, Wilson, William G, Jackson, Andrew P, Ferreira, Carlos, Bicknell, Louise S

“…Linked-read whole genome sequencing (WGS) presents a new opportunity for cost-efficient singleton sequencing in place of traditional trio-based designs while…”
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103 Eradication of methicillin-resistant Staphylococcus aureus in cystic fibrosis patients by Buckland, M.J, McGregor, G, Ross, E, Bicknell, S

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Expanding the phenotypic spectrum associated with DPF2: A new case report by Knapp, Karen M, Poke, Gemma, Jenkins, Danielle, Truter, Werner, Bicknell, Louise S.

“…Coffin–Siris syndrome (CSS) is a clinically and genetically heterogeneous developmental disorder, linked to disruption of the BAF chromatin‐remodeling complex…”
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DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency by 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, 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, 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.

“…During genome replication, polymerase epsilon (Pol ε) acts as the major leading-strand DNA polymerase. Here we report the identification of biallelic mutations…”
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