Dyskeratosis congenita, stem cells and telomeres

por Kirwan, Michael, Dokal, Inderjeet
Publicado 2009

Regulatory Barriers Blocking Standardization of Interoperability

por Zhong, Daidi, Kirwan, Michael J, Duan, Xiaolian
Publicado 2013

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

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

por Vulliamy, Tom, Beswick, Richard, Kirwan, Michael, Marrone, Anna, Digweed, Martin, Walne, Amanda, Dokal, Inderjeet
Publicado 2008

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

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome

por Marrone, Anna, Walne, Amanda, Tamary, Hannah, Masunari, Yuka, Kirwan, Michael, Beswick, Richard, Vulliamy, Tom, Dokal, Inderjeet
Publicado 2007

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

Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and Myelodysplasia

por Kirwan, Michael, Walne, Amanda J., Plagnol, Vincent, Velangi, Mark, Ho, Aloysius, Hossain, Upal, Vulliamy, Tom, Dokal, Inderjeet
Publicado 2012

Exome sequencing identifies MPL as a causative gene in familial aplastic anemia

por Walne, Amanda J., Dokal, Arran, Plagnol, Vincent, Beswick, Richard, Kirwan, Michael, de la Fuente, Josu, Vulliamy, Tom, Dokal, Inderjeet
Publicado 2012

Mutations in the telomere capping complex in bone marrow failure and related syndromes

por Walne, Amanda J., Bhagat, Tanya, Kirwan, Michael, Gitiaux, Cyril, Desguerre, Isabelle, Leonard, Norma, Nogales, Elena, Vulliamy, Tom, Dokal, Inderjeet S.
Publicado 2013

Validation of a child-friendly version of the monetary incentive delay task

por Helfinstein, Sarah M., Kirwan, Michael L., Benson, Brenda E., Hardin, Michael G., Pine, Daniel S., Ernst, Monique, Fox, Nathan A.
Publicado 2013

ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function

por Tummala, Hemanth, Kirwan, Michael, Walne, Amanda J., Hossain, Upal, Jackson, Nicholas, Pondarre, Corinne, Plagnol, Vincent, Vulliamy, Tom, Dokal, Inderjeet
Publicado 2014

Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations

por Marrone, Anna, Sokhal, Priya, Walne, Amanda, Beswick, Richard, Kirwan, Michael, Killick, Sally, Williams, Mike, Marsh, Judith, Vulliamy, Tom, Dokal, Inderjeet
Publicado 2007

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

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

por Walne, Amanda J., Vulliamy, Tom, Marrone, Anna, Beswick, Richard, Kirwan, Michael, Masunari, Yuka, Al-Qurashi, Fat-hia, Aljurf, Mahmoud, Dokal, Inderjeet
Publicado 2007

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 en Proc Natl Acad Sci U S A (2018)

Relative telomere lengths in tumor and normal mucosa are related to disease progression and chromosome instability profiles in colorectal cancer

por Suraweera, Nirosha, Mouradov, Dmitri, Li, Shan, Jorissen, Robert N., Hampson, Debbie, Ghosh, Anil, Sengupta, Neel, Thaha, Mohamed, Ahmed, Shafi, Kirwan, Michael, Aleva, Floor, Propper, David, Feakins, Roger M., Vulliamy, Tom, Elwood, Ngaire J., Tian, Pei, Ward, Robyn L., Hawkins, Nicholas J., Xu, Zheng-Zhou, Molloy, Peter L., Jones, Ian T., Croxford, Matthew, Gibbs, Peter, Silver, Andrew, Sieber, Oliver M.
Publicado en Oncotarget (2016)