Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Raja S. Vasireddy"'
Autor:
Samantha Chin‐Yun Kung, Olivia Dixon, Sarah Kentwell, Raja S. Vasireddy, Jonathan Rodgers, Yuming Ding, Tony Rahman, Caroline Tallis, Ian A. Yang, John A. Mackintosh
Publikováno v:
Respirology Case Reports, Vol 11, Iss 8, Pp n/a-n/a (2023)
Abstract A 33‐year‐old man presented with acute dyspnoea and profound hypoxaemia, and had clubbing, greying of hair, orthodeoxia and fine inspiratory crackles. CT chest showed established pulmonary fibrosis in a usual interstitial pneumonia patte
Externí odkaz:
https://doaj.org/article/4f005229bf8e49679982419de20a0c87
Autor:
Jonathan W. Arthur, Hilda A. Pickett, Pasquale M. Barbaro, Tatjana Kilo, Raja S. Vasireddy, Traude H. Beilharz, David R. Powell, Emma L. Hackett, Bruce Bennetts, Julie A. Curtin, Kristi Jones, John Christodoulou, Roger R. Reddel, Juliana Teo, Tracy M. Bryan
Publikováno v:
eJHaem, Vol 2, Iss 2, Pp 157-166 (2021)
Abstract Telomere biology disorders (TBDs), including dyskeratosis congenita (DC), are a group of rare inherited diseases characterized by very short telomeres. Mutations in the components of the enzyme telomerase can lead to insufficient telomere ma
Externí odkaz:
https://doaj.org/article/36c1fe6971a84a47afc842d5b03c9c42
Autor:
Vivian F. S. Kahl, Joshua A. M. Allen, Christopher B. Nelson, Alexander P. Sobinoff, Michael Lee, Tatjana Kilo, Raja S. Vasireddy, Hilda A. Pickett
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Telomeres are repetitive regions of DNA bound by specialized proteins at the termini of linear chromosomes that prevent the natural chromosome ends from being recognized as DNA double strand breaks. Telomeric DNA is gradually eroded with each round o
Externí odkaz:
https://doaj.org/article/649c238faa204dd4846cc96ec599c988
Autor:
Traude H. Beilharz, Roger R. Reddel, Tatjana Kilo, Kristi J. Jones, David R. Powell, Bruce Bennetts, Jonathan W. Arthur, Raja S. Vasireddy, Tracy M. Bryan, Julie Curtin, Pasquale M Barbaro, Hilda A. Pickett, John Christodoulou, Juliana Teo, Emma L. Hackett
Publikováno v:
eJHaem. 2:157-166
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b4b5b9063c2bbec0eda983589fdf8a4d
https://doi.org/10.1002/jha2.165
https://doi.org/10.1002/jha2.165
Autor:
Aram Niaz, Jia Truong, Annabel Manoleras, Lucy C. Fox, Piers Blombery, Raja S. Vasireddy, Hilda A. Pickett, Julie A. Curtin, Pasquale M. Barbaro, Jonathan Rodgers, John Roy, Lisa G. Riley, Jessica K. Holien, Scott B. Cohen, Tracy M. Bryan
Publikováno v:
Blood advances. 6(12)
Telomere biology disorders (TBDs) are a spectrum of multisystem inherited disorders characterized by bone marrow failure, resulting from mutations in the genes encoding telomerase or other proteins involved in maintaining telomere length and integrit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df80db68ed41e40506ddb4341f8d7044
https://pubmed.ncbi.nlm.nih.gov/35477117
https://pubmed.ncbi.nlm.nih.gov/35477117
Autor:
Nicholas K. Hayward, Sunil K Warrier, Hilda A. Pickett, Peter Johansson, Hayley Hamilton, Raja S. Vasireddy, Vaishnavi Nathan, Antonia L. Pritchard, Kelly Brooks, Vivian Francília Silva Kahl, William Glasson, Jane M. Palmer, Lindsay A. McGrath
Publikováno v:
Journal of Medical Genetics. 58:234-236
Pathogenic germline variants in protection of telomeres 1 ( POT1 ) result in a tumour predisposition syndrome (POT1-TPDS), which includes cutaneous melanoma (CM), glioma, chronic lymphocytic leukaemia (CLL), colorectal cancer, thyroid cancer and sarc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c88d5b2a84632fa2630cbe50ea580800
https://doi.org/10.1136/jmedgenet-2020-107098
https://doi.org/10.1136/jmedgenet-2020-107098
Autor:
Jonathan W, Arthur, Hilda A, Pickett, Pasquale M, Barbaro, Tatjana, Kilo, Raja S, Vasireddy, Traude H, Beilharz, David R, Powell, Emma L, Hackett, Bruce, Bennetts, Julie A, Curtin, Kristi, Jones, John, Christodoulou, Roger R, Reddel, Juliana, Teo, Tracy M, Bryan
Publikováno v:
EJHaem. 2(2)
Telomere biology disorders (TBDs), including dyskeratosis congenita (DC), are a group of rare inherited diseases characterized by very short telomeres. Mutations in the components of the enzyme telomerase can lead to insufficient telomere maintenance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::eb19f0017cc4b4217c670f7544e8b74b
https://pubmed.ncbi.nlm.nih.gov/35845273
https://pubmed.ncbi.nlm.nih.gov/35845273
Autor:
Alexander P. Sobinoff, Michael Lee, Joshua A. M. Allen, Tatjana Kilo, Hilda A. Pickett, Raja S. Vasireddy, Christopher B. Nelson, Vivian Francília Silva Kahl
Publikováno v:
Frontiers in Cell and Developmental Biology
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Telomeres are repetitive regions of DNA bound by specialized proteins at the termini of linear chromosomes that prevent the natural chromosome ends from being recognized as DNA double strand breaks. Telomeric DNA is gradually eroded with each round o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce10a5e7b5612faf6cb5728b3d176578
https://doi.org/10.3389/fcell.2020.00493
https://doi.org/10.3389/fcell.2020.00493
Autor:
Vaishnavi, Nathan, Jane M, Palmer, Peter A, Johansson, Hayley R, Hamilton, Sunil K, Warrier, William, Glasson, Lindsay A, McGrath, Vivian F S, Kahl, Raja S, Vasireddy, Hilda A, Pickett, Kelly M, Brooks, Antonia L, Pritchard, Nicholas K, Hayward
Publikováno v:
Journal of medical genetics. 58(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::85a4fa816a50c0147ba642d96337929f
https://pubmed.ncbi.nlm.nih.gov/32907878
https://pubmed.ncbi.nlm.nih.gov/32907878
Autor:
Jeffery M. Craig, Sandra Verschoor, Michael J. McKay, Martin F. Lavin, Huiling Xu, Raja S. Vasireddy, Sergei Kozlov, Robert G. Ramsay, Ravi Savarirayan, Pavel Lobachevsky, Jacinta Ryan, Yuqian Yan, P. Chen, Paul Kalitsis, George McGillivray
Publikováno v:
International journal of radiation oncology, biology, physics. 103(5)
Purpose: Roberts syndrome (RBS) is a rare, recessively transmitted developmental disorder characterized by growth retardation, craniofacial abnormalities, and truncation of limbs. All affected individuals to date have mutations in the ESCO2 (establis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8d9a52dcf54b09aa03b7de34e34fc32
https://pubmed.ncbi.nlm.nih.gov/30508616
https://pubmed.ncbi.nlm.nih.gov/30508616