Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Mark J McCabe"'
Publikováno v:
Asian Journal of Andrology, Vol 18, Iss 4, Pp 620-626 (2016)
The Sertoli cell tight junction (TJ) is the key component of the blood-testis barrier, where it sequesters developing germ cells undergoing spermatogenesis within the seminiferous tubules. Hormonally regulated claudin-11 is a critical transmembrane p
Externí odkaz:
https://doaj.org/article/fe1def8776ad401d935685625402f98c
Autor:
Patricia J. Sullivan, Velimir Gayevskiy, Ryan L. Davis, Marie Wong, Chelsea Mayoh, Amali Mallawaarachchi, Yvonne Hort, Mark J. McCabe, Sarah Beecroft, Matilda R. Jackson, Peer Arts, Andrew Dubowsky, Nigel Laing, Marcel E. Dinger, Hamish S. Scott, Emily Oates, Mark Pinese, Mark J. Cowley
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-18 (2023)
Abstract Predicting the impact of coding and noncoding variants on splicing is challenging, particularly in non-canonical splice sites, leading to missed diagnoses in patients. Existing splice prediction tools are complementary but knowing which to u
Externí odkaz:
https://doaj.org/article/a68b29b28f7044f1a5d703764aca0078
Autor:
Mark J. McCabe, Christopher M. Snyder
Publikováno v:
Managerial and Decision Economics
Managerial and Decision Economics, Wiley, 2021, 42 (8), pp.1960-1979. ⟨10.1002/mde.3353⟩
Managerial and Decision Economics, Wiley, 2021, 42 (8), pp.1960-1979. ⟨10.1002/mde.3353⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1891ee04a5bda8b28ea7762b6c9cce1a
https://hal.archives-ouvertes.fr/hal-03561765
https://hal.archives-ouvertes.fr/hal-03561765
Autor:
Edwin P. Kirk, Luigi Scietti, Carles Gaston-Massuet, Ying Zhu, Corrina Walsh, Mark J. Cowley, Cecilia Giunta, David Sillence, Michael Buckley, Marcel E. Dinger, Angelica Gualtieri, Federico Forneris, Lisa Ewans, Kevin Ying, Salil A. Lachke, Tony Roscioli, David Miller, Deepti Anand, Mark J. McCabe, Alison Colley
Publikováno v:
Journal of Medical Genetics. 56:629-638
BackgroundPathogenic PLOD3 variants cause a connective tissue disorder (CTD) that has been described rarely. We further characterise this CTD and propose a clinical diagnostic label to improve recognition and diagnosis of PLOD3-related disease.Method
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5a7e4accb27748070f9392e35c12812b
https://doi.org/10.1136/jmedgenet-2019-106019
https://doi.org/10.1136/jmedgenet-2019-106019
Autor:
Anna Flavia Figueredo Benedetti, Michele Moreira Poina, Mohamad Maghnie, Ivo J.P. Arnhold, Mehul T. Dattani, Hironori Bando, Mark J. McCabe, Qing Fang, Berenice B. Mendonca, Marilena Nakaguma, Alexander A. L. Jorge, Ayse Bilge Ozel, Louise C. Gregory, Antonio M. Lerario, Giuseppa Patti, Sally A. Camper, Luciani R. Carvalho, Peter Gergics, Qianyi Ma, Jun Li
Publikováno v:
European Journal of Endocrinology
Objective The transcription factor OTX2is implicated in ocular, craniofacial, and pituitary development. Design We aimed to establish the contribution of OTX2 mutations in congenital hypopituitarism patients with/without eye abnormalities, study func
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3575fa9e5e8aa52f70ccabc922e4273
http://hdl.handle.net/11567/1057642
http://hdl.handle.net/11567/1057642
Autor:
Marcel E. Dinger, Melissa L. Thomas, Sunita M C De Sousa, Mark J. Cowley, Chia Ling Chan, Marie Gauthier, Sandra A O'Toole, Ann McCormack, Jiang Tao, Tanya J. Thompson, Amber L. Johns, Ruta Gupta, John P. Grady, Niantao Deng, Reginald V. Lord, S. Mueller, Arcadi Cipponi, Clare Puttick, Velimir Gayevskiy, Maija R.J. Kohonen-Corish, Kevin Ying, Alexander Swarbrick, kConFab, Mark J. McCabe, Jonathan R. Clark
Publikováno v:
McCabe, Mark J; Gauthier, Marie-Emilie A; Chan, Chia-Ling; Thompson, Tanya J; De Sousa, Sunita M C; Puttick, Clare; Grady, John P; Gayevskiy, Velimir; Tao, Jiang; Ying, Kevin; Cipponi, Arcadi; Deng, Niantao; Swarbrick, Alex; Thomas, Melissa L; Lord, Reginald V; Johns, Amber L; Kohonen-Corish, Maija; O'Toole, Sandra A; Clark, Jonathan; Müller, Simon A.; ... (2019). Development and validation of a targeted gene sequencing panel for application to disparate cancers. Scientific reports, 9(1), p. 17052. Springer Nature 10.1038/s41598-019-52000-3
Scientific Reports, Vol 9, Iss 1, Pp 1-16 (2019)
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-16 (2019)
Scientific Reports
Next generation sequencing has revolutionised genomic studies of cancer, having facilitated the development of precision oncology treatments based on a tumour’s molecular profile. We aimed to develop a targeted gene sequencing panel for application
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a13b8938bc2976f60fb47180f8c74dfb
Autor:
Giuseppa Patti, Mohamad Maghnie, Mehul T. Dattani, Mark J. McCabe, Peter Gergics, Emanuela Spadoni, Sally A. Camper, Louise C. Gregory
Publikováno v:
Journal of the Endocrine Society
The transcription factor OTX2 is implicated in pituitary, ocular and craniofacial development. Mutations have been described in patients with variable congenital hypopituitarism (CH) ranging from isolated growth hormone deficiency (IGHD) to combined
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea1c3594dfddaece93e1efb53364012d
http://europepmc.org/articles/PMC7207633
http://europepmc.org/articles/PMC7207633
Autor:
Mark J. McCabe, Zakaria Babutsidze
Publikováno v:
SSRN Electronic Journal.
We examine how prize announcements in economics influence the attention of insiders and outsiders to the field. Insiders pay greatest attention to consensus papers cited by the Nobel Prize Committee and written by past Clark Medal winners; outsiders
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b6c91c46a692e2b09a1e0f6970d45fd
https://doi.org/10.2139/ssrn.3534922
https://doi.org/10.2139/ssrn.3534922
Autor:
Nicole Laurencia Yuwono, Kristina Warton, Caroline E. Ford, Mark J. McCabe, Alwin So, Mark J. Cowley
Publikováno v:
Molecular Diagnosis & Therapy. 21:563-570
Blood samples for studies of circulating DNA in disease are often collected in clinical settings where prompt processing of samples is not possible. In order to avoid problems associated with leukocyte lysis after prolonged blood storage, stabilised
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f3048ec21cf94f479db6afb89c6a4f9
https://doi.org/10.1007/s40291-017-0284-x
https://doi.org/10.1007/s40291-017-0284-x
Autor:
Frank Mueller-Langer, Mark J. McCabe
Publikováno v:
SSRN Electronic Journal.
Does data disclosure have an impact on citations? Four leading economics journals introduced a data disclosure policy between 2004 and 2006. We use panel data consisting of 17,135 article citing-year observations from 1996 to 2015 for articles publis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::43ce6907df631a57f33b59d479484c49
https://doi.org/10.2139/ssrn.3329272
https://doi.org/10.2139/ssrn.3329272