Search Results - "Stiff, Tom"

Prophase-Specific Perinuclear Actin Coordinates Centrosome Separation and Positioning to Ensure Accurate Chromosome Segregation by Stiff, Tom, Echegaray-Iturra, Fabio R., Pink, Harry J., Herbert, Alex, Reyes-Aldasoro, Constantino Carlos, Hochegger, Helfrid

“…Centrosome separation in late G2/ early prophase requires precise spatial coordination that is determined by a balance of forces promoting and antagonizing…”
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CRISPR screens in 3D tumourspheres identified miR-4787-3p as a transcriptional start site miRNA essential for breast tumour-initiating cell growth by Stiff, Tom, Bayraktar, Salih, Dama, Paola, Stebbing, Justin, Castellano, Leandro

“…Our study employs pooled CRISPR screens, integrating 2D and 3D culture models, to identify miRNAs critical in Breast Cancer (BC) tumoursphere formation. These…”
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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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ATM and DNA-PK function redundantly to phosphorylate H2AX after exposure to ionizing radiation by STIFF, Tom, O'DRISCOLL, Mark, RIEF, Nicole, IWABUCHI, Kuniyoshi, LÖBRICH, Markus, JEGGO, Penny A

“…H2AX phosphorylation is an early step in the response to DNA damage. It is widely accepted that ATM (ataxia telangiectasia mutated protein) phosphorylates H2AX…”
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Contractile acto-myosin network on nuclear envelope remnants positions human chromosomes for mitosis by Booth, Alexander Jr, Yue, Zuojun, Eykelenboom, John K, Stiff, Tom, Luxton, Gw Gant, Hochegger, Helfrid, Tanaka, Tomoyuki U

“…To ensure proper segregation during mitosis, chromosomes must be efficiently captured by spindle microtubules and subsequently aligned on the mitotic spindle…”
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Chromosome Breakage after G2 Checkpoint Release by Deckbar, Dorothee, Birraux, Julie, Krempler, Andrea, Tchouandong, Leopoldine, Beucher, Andrea, Walker, Sarah, Stiff, Tom, Jeggo, Penny, Löbrich, Markus

“…DNA double-strand break (DSB) repair and checkpoint control represent distinct mechanisms to reduce chromosomal instability. Ataxia telangiectasia (A-T) cells…”
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Cilia defects upon loss of WDR4 are linked to proteasomal hyperactivity and ubiquitin shortage by Burkhalter, Martin D., Stiff, Tom, Maerz, Lars D., Casar Tena, Teresa, Wiese, Heike, Gerhards, Julian, Sailer, Steffen A., Vu, Linh Anna Trúc, Duong Phu, Max, Donow, Cornelia, Alupei, Marius, Iben, Sebastian, Groth, Marco, Wiese, Sebastian, Church, Joseph A., Jeggo, Penelope A., Philipp, Melanie

“…The WD repeat-containing protein 4 (WDR4) has repeatedly been associated with primary microcephaly, a condition of impaired brain and skull growth. Often,…”
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Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome by Stiff, Tom, Alagoz, Meryem, Alcantara, Diana, Outwin, Emily, Brunner, Han G, Bongers, Ernie M H F, O'Driscoll, Mark, Jeggo, Penny A

“…Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause Meier-Gorlin syndrome (MGS), a…”
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Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome by Ogi, Tomoo, Walker, Sarah, Stiff, Tom, Hobson, Emma, Limsirichaikul, Siripan, Carpenter, Gillian, Prescott, Katrina, Suri, Mohnish, Byrd, Philip J, Matsuse, Michiko, Mitsutake, Norisato, Nakazawa, Yuka, Vasudevan, Pradeep, Barrow, Margaret, Stewart, Grant S, Taylor, A Malcolm R, O'Driscoll, Mark, Jeggo, Penny A

“…A homozygous mutational change in the Ataxia-Telangiectasia and RAD3 related (ATR) gene was previously reported in two related families displaying Seckel…”
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DNA double-strand break repair within heterochromatic regions by Murray, Johanne M, Stiff, Tom, Jeggo, Penny A

“…DNA DSBs (double-strand breaks) represent a critical lesion for a cell, with misrepair being potentially as harmful as lack of repair. In mammalian cells, DSBs…”
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ATR promotes cilia signalling: links to developmental impacts by Stiff, Tom, Casar Tena, Teresa, O'Driscoll, Mark, Jeggo, Penny A, Philipp, Melanie

“…Mutations in ATR(ataxia telangiectasia and RAD3-related) cause Seckel syndrome (ATR-SS), a microcephalic primordial dwarfism disorder. Hitherto, the clinical…”
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Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling by Jackson, Andrew P, Griffith, Elen, Walker, Sarah, Martin, Carol-Anne, Vagnarelli, Paola, Stiff, Tom, Vernay, Bertrand, Sanna, Nouriya Al, Saggar, Anand, Hamel, Ben, Earnshaw, William C, Jeggo, Penny A, O'Driscoll, Mark

“…Large brain size is one of the defining characteristics of modern humans. Seckel syndrome (MIM 210600), a disorder of markedly reduced brain and body size, is…”
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Nbs1 is required for ATR-dependent phosphorylation events by Stiff, Tom, Reis, Caroline, Alderton, Gemma K, Woodbine, Lisa, O'Driscoll, Mark, Jeggo, Penny A

“…Nijmegen breakage syndrome (NBS) is characterised by microcephaly, developmental delay, characteristic facial features, immunodeficiency and radiosensitivity…”
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Replication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1 by Stiff, Tom, Cerosaletti, Karen, Concannon, Patrick, O'Driscoll, Mark, Jeggo, Penny A.

“…Ataxia telangiectasia and Rad3-related (ATR) is a phosphoinositol-3-kinase like kinase (PIKK) that initiates a signal transduction response to replication fork…”
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Deficiency in Origin Licensing Proteins Impairs Cilia Formation: Implications for the Aetiology of Meier-Gorlin Syndrome: e1003360 by Stiff, Tom, Alagoz, Meryem, Alcantara, Diana, Outwin, Emily, Brunner, Han G, Bongers, M HF, Jeggo, Penny A

“…Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause Meier-Gorlin syndrome (MGS), a…”
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