Dyskeratosis congenita, stem cells and telomeres

por Kirwan, Michael, Dokal, Inderjeet
Publicado 2009

Inherited bone marrow failure in the pediatric patient

por Dokal, Inderjeet, Tummala, Hemanth, Vulliamy, Tom
Publicado 2022

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

por Walne, Amanda J., Vulliamy, Tom, Beswick, Richard, Kirwan, Michael, Dokal, Inderjeet
Publicado 2008

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome

por Walne, Amanda J., Vulliamy, Tom, Beswick, Richard, Kirwan, Michael, Dokal, Inderjeet
Publicado 2010

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

por Walne, Amanda J., Vulliamy, Tom, Kirwan, Michael, Plagnol, Vincent, Dokal, Inderjeet
Publicado 2013

Dyskeratosis congenita and the DNA damage response

por Kirwan, Michael, Beswick, Richard, Walne, Amanda J, Hossain, Upal, Casimir, Colin, Vulliamy, Tom, Dokal, Inderjeet
Publicado 2011

Single-Molecule Analysis of the Human Telomerase RNA·Dyskerin Interaction and the Effect of Dyskeratosis Congenita Mutations

por Ashbridge, Beth, Orte, Angel, Yeoman, Justin A., Kirwan, Michael, Vulliamy, Tom, Dokal, Inderjeet, Klenerman, David, Balasubramanian, Shankar
Publicado 2009

Differences in Disease Severity but Similar Telomere Lengths in Genetic Subgroups of Patients with Telomerase and Shelterin Mutations

por Vulliamy, Tom J., Kirwan, Michael J., Beswick, Richard, Hossain, Upal, Baqai, Charlotte, Ratcliffe, Anna, Marsh, Judith, Walne, Amanda, Dokal, Inderjeet
Publicado 2011

Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes

por Walne, Amanda J., Vulliamy, Tom, Bewicke-Copley, Findlay, Wang, Jun, Alnajar, Jenna, Bridger, Maria G., Ma, Bernard, Tummala, Hemanth, Dokal, Inderjeet
Publicado 2021

High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders

por Norris, Kevin, Walne, Amanda J., Ponsford, Mark J., Cleal, Kez, Grimstead, Julia W., Ellison, Alicia, Alnajar, Jenna, Dokal, Inderjeet, Vulliamy, Tom, Baird, Duncan M.
Publicado 2021

A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal Haemoglobinuria

por Keith, W Nicol, Vulliamy, Tom, Zhao, Jiangqin, Ar, Cem, Erzik, Can, Bilsland, Alan, Ulku, Birsen, Marrone, Anna, Mason, Philip J, Bessler, Monica, Serakinci, Nedime, Dokal, Inderjeet
Publicado 2004

Dyskeratosis Congenita Links Telomere Attrition to 
Age-Related Systemic Energetics

por James, Emma Naomi, Sagi-Kiss, Virag, Bennett, Mark, Mycielska, Maria Elzbieta, Karen-Ng, Lee Peng, Roberts, Terry, Matta, Sheila, Dokal, Inderjeet, Bundy, Jacob Guy, Parkinson, Eric Kenneth
Publicado 2023

A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure

por Tummala, Hemanth, Walne, Amanda J., Bewicke-Copley, Findlay, Ellison, Alicia, Pontikos, Nikolas, Bridger, Maria G., Rio-Machin, Ana, Sidhu, Jasmin K., Wang, Jun, Hasle, Henrik, Fitzgibbon, Jude, Vulliamy, Tom, Dokal, Inderjeet
Publicado 2020

Acquired somatic variants in inherited myeloid malignancies

por Armes, Hannah, Rio-Machin, Ana, Krizsán, Szilvia, Bödör, Csaba, Kaya, Fadimana, Bewicke-Copley, Findlay, Alnajar, Jenna, Walne, Amanda, Péterffy, Borbála, Tummala, Hemanth, Rouault-Pierre, Kevin, Dokal, Inderjeet, Vulliamy, Tom, Fitzgibbon, Jude
Publicado 2022

Germline ERCC excision repair 6 like 2 ( ERCC6L2 ) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment

por Armes, Hannah, Bewicke‐Copley, Findlay, Rio‐Machin, Ana, Di Bella, Doriana, Philippe, Céline, Wozniak, Anna, Tummala, Hemanth, Wang, Jun, Ezponda, Teresa, Prosper, Felipe, Dokal, Inderjeet, Vulliamy, Tom, Kilpivaara, Outi, Wartiovaara‐Kautto, Ulla, Fitzgibbon, Jude, Rouault‐Pierre, Kevin
Publicado 2022

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita

por Tummala, Hemanth, Walne, Amanda, Buccafusca, Roberto, Alnajar, Jenna, Szabo, Anita, Robinson, Peter, McConkie-Rosell, Allyn, Wilson, Meredith, Crowley, Suzanne, Kinsler, Veronica, Ewins, Anna-Maria, Madapura, Pradeepa M., Patel, Manthan, Pontikos, Nikolas, Codd, Veryan, Vulliamy, Tom, Dokal, Inderjeet
Publicado 2022

Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants

por Tummala, Hemanth, Dokal, Arran D., Walne, Amanda, Ellison, Alicia, Cardoso, Shirleny, Amirthasigamanipillai, Saranha, Kirwan, Michael, Browne, Isobel, Sidhu, Jasmin K., Rajeeve, Vinothini, Rio-Machin, Ana, Seraihi, Ahad Al, Duncombe, Andrew S., Jenner, Matthew, Smith, Owen P., Enright, Helen, Norton, Alice, Aksu, Tekin, Özbek, Namık Yaşar, Pontikos, Nikolas, Cutillas, Pedro, Dokal, Inderjeet, Vulliamy, Tom
Publicado 2018

GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML

por Al Seraihi, Ahad F., Rio-Machin, Ana, Tawana, Kiran, Bödör, Csaba, Wang, Jun, Nagano, Ai, Heward, James A., Iqbal, Sameena, Best, Steven, Lea, Nicholas, McLornan, Donal, Kozyra, Emilia J., Wlodarski, Marcin W., Niemeyer, Charlotte M., Scott, Hamish, Hahn, Chris, Ellison, Alicia, Tummala, Hemanth, Cardoso, Shirleny Romualdo, Vulliamy, Tom, Dokal, Inderjeet, Butler, Tom, Smith, Matthew, Cavenagh, Jamie, Fitzgibbon, Jude
Publicado 2018

Germline NPM1 mutations lead to altered rRNA 2’-O-methylation and cause dyskeratosis congenita

por Nachmani, Daphna, Bothmer, Anne H., Grisendi, Silvia, Mele, Aldo, Bothmer, Dietmar, Lee, Jonathan D., Monteleone, Emanuele, Cheng, Ke, Zhang, Yang, Bester, Assaf C., Guzzetti, Alison, Mitchell, Caitlin A., Mendez, Lourdes M., Pozdnyakova, Olga, Sportoletti, Paolo, Martelli, Maria-Paola, Vulliamy, Tom J., Safra, Modi, Schwartz, Schraga, Luzzatto, Lucio, Bluteau, Olivier, Soulier, Jean, Darnell, Robert B., Falini, Brunangelo, Dokal, Inderjeet, Ito, Keisuke, Clohessy, John G., Pandolfi, Pier Paolo
Publicado 2019

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

por Rio-Machin, Ana, Vulliamy, Tom, Hug, Nele, Walne, Amanda, Tawana, Kiran, Cardoso, Shirleny, Ellison, Alicia, Pontikos, Nikolas, Wang, Jun, Tummala, Hemanth, Al Seraihi, Ahad Fahad H., Alnajar, Jenna, Bewicke-Copley, Findlay, Armes, Hannah, Barnett, Michael, Bloor, Adrian, Bödör, Csaba, Bowen, David, Fenaux, Pierre, Green, Andrew, Hallahan, Andrew, Hjorth-Hansen, Henrik, Hossain, Upal, Killick, Sally, Lawson, Sarah, Layton, Mark, Male, Alison M., Marsh, Judith, Mehta, Priyanka, Mous, Rogier, Nomdedéu, Josep F., Owen, Carolyn, Pavlu, Jiri, Payne, Elspeth M., Protheroe, Rachel E., Preudhomme, Claude, Pujol-Moix, Nuria, Renneville, Aline, Russell, Nigel, Saggar, Anand, Sciuccati, Gabriela, Taussig, David, Toze, Cynthia L., Uyttebroeck, Anne, Vandenberghe, Peter, Schlegelberger, Brigitte, Ripperger, Tim, Steinemann, Doris, Wu, John, Mason, Joanne, Page, Paula, Akiki, Susanna, Reay, Kim, Cavenagh, Jamie D., Plagnol, Vincent, Caceres, Javier F., Fitzgibbon, Jude, Dokal, Inderjeet
Publicado 2020