Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Lou, Metherell"'
Autor:
Jack L Williams, Chris Smith, Charlotte Hall, Zakaa Khaled, Avinaash Maharaj, Ruth Kwong, James Pittaway, Josefina Casas, Laila Parvanta, Tarek Ezzat Abdel-Aziz, Fausto Palazzo, Teng-Teng Chung, Leonardo Guasti, Lou Metherell, Rathi Prasad
Publikováno v:
European Journal of Endocrinology. 188
Adrenocortical carcinomas (ACCs) are invasive tumours arising in the adrenal cortex, and steroidogenic tumours are associated with worse prognostic outcomes. Loss-of-function mutations in sphingosine-1-phosphate lyase (SGPL1) cause primary adrenal in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::206764cc8f83217005eb62131418d1fd
https://doi.org/10.1093/ejendo/lvac007
https://doi.org/10.1093/ejendo/lvac007
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::72803f468629ae43074b61a4a20ca4de
https://doi.org/10.1530/endoabs.85.oc5.8
https://doi.org/10.1530/endoabs.85.oc5.8
Autor:
Sam O’Toole, Peyman Björklund, Samuel Backman, Per Hellman, Eva Wozniak, Sumedha Garg, Morris J. Brown, Emily Goodchild, Junhua Zhou, Alison Marker, Antoinette Tuthill, Giulia Argentesi, Caroline Joyce, Xilin Wu, Sheerazed Boulkroun, Celso E Gomez Sanchez, Russell Senanayake, Satyamaanasa Polubothu, Kate E Lines, Lou Metherell, Suzanne Jordan, Jyn Ling Kuan, Zenia Tiang, Laila Parvanta, Fiona E. Karet Frankl, Veronica A Kinsler, Rajesh V. Thakker, Elena A.B. Azizan, Fabio L. Fernandes-Rosa, Maria-Christina Zennaro, David Klinzing, Laurence Amar, Emily Cottrell, William Drake, Helen L Storr, Ada E. D. Teo, Juan Pablo Kaski, Roger Foo, Charles A. Mein, Tobias Åkerström, Daniel M. Berney, Claudia P. Cabrera, Anna K Gluck, Mark Gurnell
Publikováno v:
Nat Genet
Nature Genetics
Nature Genetics, 2021, 53 (9), pp.1360-1372. ⟨10.1038/s41588-021-00906-y⟩
Nature Genetics
Nature Genetics, 2021, 53 (9), pp.1360-1372. ⟨10.1038/s41588-021-00906-y⟩
Most aldosterone-producing adenomas (APAs) have gain-of-function somatic mutations of ion channels or transporters. However, their frequency in aldosterone-producing cell clusters of normal adrenal gland suggests a requirement for codriver mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f4b06af371bc122514ed8222140e35a
https://doi.org/10.1038/s41588-021-00906-y
https://doi.org/10.1038/s41588-021-00906-y
Autor:
Jack L Williams, Anju Paudyal, Michelle Stewart, Pedro Cutillas, Andrew Tinker, Lou Metherell
Publikováno v:
Circulation Research. 131
Introduction: We recently discovered C57BL/6N mice develop dilated cardiomyopathy (DCM), while the closely related C57BL/6J do not. We identified a variant (Chr8:85365179A>T, c.-5T>A) in myosin light chain kinase 3 ( Mylk3 ) in the C57BL/6N substrain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f4f3805b0b6e423c1b011f5246967bc
https://doi.org/10.1161/res.131.suppl_1.p2005
https://doi.org/10.1161/res.131.suppl_1.p2005
Autor:
Christopher Smith, Rathi Prasad, Lou Metherell, Josefina Casas, Charlotte Hall, Matthew Caley, Edel O'Toole, Jack Williams
Publikováno v:
J Lipid Res
Sphingosine 1-phosphate lyase (SGPL1) insufficiency (SPLIS) is a syndrome which presents with adrenal insufficiency, steroid-resistant nephrotic syndrome, hypothyroidism, neurological disease, and ichthyosis. Where a skin phenotype is reported, 94% h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fec8c5887cbd4aff61ca9de4967c250
https://doi.org/10.1016/j.jlr.2023.100351
https://doi.org/10.1016/j.jlr.2023.100351
Autor:
Li Chan, Chris Smith, Jordan Read, Charlotte Hall, Avinaash Maharaj, Lucia Marroquin Ramirez, Younus Qamar, Claire Hughes, Adrian Clark, Salwa Musa, Rathi Prasad, Lou Metherell
Publikováno v:
Journal of the Endocrine Society. 6:A140-A141
Introduction Mutations in MC2R causing familial glucocorticoid deficiency (FGD), a rare form of primary, isolated adrenal insufficiency, were first published in 1993, discovered by candidate gene sequencing (CGS). Through advances in genetic techniqu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::328e1c04640133ab418de1ac22a51413
https://doi.org/10.1210/jendso/bvac150.286
https://doi.org/10.1210/jendso/bvac150.286
Autor:
Jack Williams, anju paudyal, Michelle Stewart, Pedro Cutillas, Roger D Cox, Andrew Tinker, Lou Metherell
Publikováno v:
Circulation. 144
Introduction: The C57BL/6J and C57BL/6N are two of the most commonly used mouse strains in biological research. We recently discovered C57BL/6N males develop a modest dilated cardiomyopathy (DCM) by 12 months, which is absent from the closely related
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::09ec50f9cb93dce5c95ed337512f74c8
https://doi.org/10.1161/circ.144.suppl_1.14037
https://doi.org/10.1161/circ.144.suppl_1.14037
Autor:
Ruth Kwong, Avinaash Maharaj, Charlotte L. Hall, Rathi Prasad, Jack Williams, Lou Metherell, Christopher J. Smith
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2c68a7c7e6d7e9de9dcde124b528340e
https://doi.org/10.1530/endoabs.77.p11
https://doi.org/10.1530/endoabs.77.p11
Autor:
Giulia Argentesi, Chaz Mein, Laila Parvanta, Anna K Gluck, Mark Gurnell, Caroline Joyce, Antoinette Tuthill, Xilin Wu, Lou Metherell, Elena A.B. Azizan, Emily Goodchild, Sam O’Toole, Suzanne Jordan, Veronika Kinsler, Alison Marker, William Drake, Helen L Storr, Rajesh V. Thakker, Sumedha Garg, Morris J. Brown, Daniel M. Berney, Frankl Fiona Karet, Claudia P. Cabrera, Emily Cottrell, Russell Senanayake, Eva Wozniak, Ada E. D. Teo, Kate E Lines, Junhua Zhou
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::30a8ba6470d3461d28de0b689b3e9c41
https://doi.org/10.1530/endoabs.77.oc4.2
https://doi.org/10.1530/endoabs.77.oc4.2
Autor:
Li F. Chan, Jesús Argente, Avinaash Maharaj, Gabriel Á. Martos-Moreno, Ashwini Maudhoo, Lou Metherell, Federica Buonocore, John C. Achermann
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-6 (2021)
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-6 (2021)
Summary Congenital isolated ACTH deficiency (IAD) is a rare condition characterised by low plasma ACTH and serum cortisol with normal production of other pituitary hormones. TBX19 (also known as TPIT) is a T-box pituitary restricted transcription fac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1139d17a27507a69590a7f7052aba3c0
http://europepmc.org/articles/PMC8495723
http://europepmc.org/articles/PMC8495723