Lessons learned about prevalence and growth rates of abdominal aortic aneurysms from a 25-year ultrasound population screening programme

Autor: Michael J. Sweeting, D. Cooper, Clare Oliver-Williams, G. Turton, C. Rodd, J.J. Earnshaw, D. Parkin, Simon G. Thompson

Publikováno v: British Journal of Surgery. 105:68-74

Background This study aimed to assess how the prevalence and growth rates of small and medium abdominal aortic aneurysms (AAAs) (3·0–5·4 cm) have changed over time in men aged 65 years, and to evaluate long-term outcomes in men whose aortic diame

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de58c7178e2c1fac65b947c6eb6a8744
https://doi.org/10.1002/bjs.10715

Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency

Autor: James P. G. Turton, Mehul T. Dattani, P. Le Tissier, Molly Strom, S. Langham

Publikováno v: Clinical Endocrinology. 76:387-393

Summary Background Mutations in the POU1F1 gene severely affect the development and function of the anterior pituitary gland and lead to combined pituitary hormone deficiency (CPHD). Objective The clinical and genetic analysis of a patient presenting

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bb861e97e35e668f1e6c0c735b03e683
https://doi.org/10.1111/j.1365-2265.2011.04236.x

Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans

Autor: Rodrigo M. Young, Mark J. McCabe, Sara Pozzi, Bradley J. Merrill, James P. G. Turton, Valeria Scagliotti, Basudha Basu, Gabriela Carreno, Carles Gaston-Massuet, Markela Koniordou, Chun I. Wu, Federica Graziola, Elisa Rahikkala, Tuija Löppönen, Mehul T. Dattani, Massimo Signore, Sujatha A. Jayakody, Seyedeh Neda Mousavy Gharavy, Louise C. Gregory, Angelica Gualtieri, Sergei Y. Sokol, Riitta Veijola, Rodrigo E Bancalari, Juan Pedro Martinez-Barbera, Stephen W. Wilson, Cynthia L. Andoniadou, Nicoletta Charolidi

Publikováno v: Gaston-Massuet, C, McCabe, M J, Scagliotti, V, Young, R M, Carreno, G, Gregory, L C, Jayakody, S A, Pozzi, S, Gualtieri, A, Basu, B, Koniordou, M, Wu, C-I, Bancalari, R E, Rahikkala, E, Veijola, R, Lopponen, T, Graziola, F, Turton, J, Signore, M, Mousavy Gharavy, S N, Charolidi, N, Sokol, S Y, Andoniadou, C L, Wilson, S W, Merrill, B J, Dattani, M T & Martinez-Barbera, J P 2016, ' Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans ', Proceedings of the National Academy of Sciences of the United States of America . https://doi.org/10.1073/pnas.1503346113

Aberrant embryonic development of the hypothalamus and/or pituitary gland in humans results in congenital hypopituitarism (CH). Transcription factor 7-like 1 (TCF7L1), an important regulator of the WNT/β-catenin signaling pathway, is expressed in th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::489990bf9fe05fbe0256ad9326da327c
https://kclpure.kcl.ac.uk/en/publications/7ce20e71-c58a-4587-a3ad-c31ad2845f63

HESX1Mutations Are an Uncommon Cause of Septooptic Dysplasia and Hypopituitarism

Autor: Nele Haufs, James P. G. Turton, Anastasios Papadimitriou, David E. G. McNay, Daniel Kelberman, Stephen M Shalet, Kathryn S. Woods, Heiko Krude, Eberhard Keller, A. Keller, Mehul T. Dattani, Raja Brauner

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 92:691-697

Context: Mutations in the transcription factor HESX1 have previously been described in association with septooptic dysplasia (SOD) as well as isolated defects of the hypothalamic-pituitary axis. Objective: Given that previous screening was carried ou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6650e332eb141876224b36c5c55497c6
https://doi.org/10.1210/jc.2006-1609

Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD)

Autor: M. Eunice, Paul Q. Thomas, James P. G. Turton, Jerzy Starzyk, Ariachery C. Ammini, Jamal Raza, Pierre Bouloux, Ameeta Mehta, Joseph Cassar, Anatoly Tiulpakov, Kling Chong, Mehul T. Dattani, Kathryn S. Woods, Peter C. Hindmarsh

Publikováno v: Clinical Endocrinology. 63:10-18

Mutations within the pituitary-specific paired-like homeobox gene PROP1 have been described in 50-100% of patients with familial combined pituitary hormone deficiency (CPHD). We screened a cohort of sporadic (n = 189) and familial (n = 44) patients w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aefd4d505f9ec38b248d6d7911c8b4a6
https://doi.org/10.1111/j.1365-2265.2005.02291.x