Zobrazeno 1 - 10
of 211
pro vyhledávání: '"Gerard S. Conway"'
Autor:
Denis Houzelstein, Caroline Eozenou, Carlos F. Lagos, Maëva Elzaiat, Joelle Bignon-Topalovic, Inma Gonzalez, Vincent Laville, Laurène Schlick, Somboon Wankanit, Prochi Madon, Jyotsna Kirtane, Arundhati Athalye, Federica Buonocore, Stéphanie Bigou, Gerard S. Conway, Delphine Bohl, John C. Achermann, Anu Bashamboo, Ken McElreavey
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-12 (2024)
Abstract The Y-linked SRY gene initiates mammalian testis-determination. However, how the expression of SRY is regulated remains elusive. Here, we demonstrate that a conserved steroidogenic factor-1 (SF-1)/NR5A1 binding enhancer is required for appro
Externí odkaz:
https://doaj.org/article/4d468f3ebfe74e169182e3c50aa5412e
Autor:
Jenifer P. Suntharalingham, Miho Ishida, Antoinette Cameron-Pimblett, Sinead M. McGlacken-Byrne, Federica Buonocore, Ignacio del Valle, Gaganjit Kaur Madhan, Tony Brooks, Gerard S. Conway, John C. Achermann
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
BackgroundWomen with Turner syndrome (TS) (45,X and related karyotypes) have an increased prevalence of conditions such as diabetes mellitus, obesity, hypothyroidism, autoimmunity, hypertension, and congenital cardiovascular anomalies (CCA). Whilst t
Externí odkaz:
https://doaj.org/article/ee6eb85adb354a4193d7aee6c6ee8b19
Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency
Autor:
Sinéad M. McGlacken-Byrne, Ignacio Del Valle, Polona Le Quesne Stabej, Laura Bellutti, Luz Garcia-Alonso, Louise A. Ocaka, Miho Ishida, Jenifer P. Suntharalingham, Andrey Gagunashvili, Olumide K. Ogunbiyi, Talisa Mistry, Federica Buonocore, GOSgene, Berta Crespo, Nadjeda Moreno, Paola Niola, Tony Brooks, Caroline E. Brain, Mehul T. Dattani, Daniel Kelberman, Roser Vento-Tormo, Carlos F. Lagos, Gabriel Livera, Gerard S. Conway, John C. Achermann
Publikováno v:
JCI Insight, Vol 7, Iss 5 (2022)
Primary ovarian insufficiency (POI) affects 1% of women and carries significant medical and psychosocial sequelae. Approximately 10% of POI has a defined genetic cause, with most implicated genes relating to biological processes involved in early fet
Externí odkaz:
https://doaj.org/article/8de8a399e8464d42b747b0aa3003ebbc
Autor:
Gerard Ruiz-Babot, Mariya Balyura, Irene Hadjidemetriou, Sharon J. Ajodha, David R. Taylor, Lea Ghataore, Norman F. Taylor, Undine Schubert, Christian G. Ziegler, Helen L. Storr, Maralyn R. Druce, Evelien F. Gevers, William M. Drake, Umasuthan Srirangalingam, Gerard S. Conway, Peter J. King, Louise A. Metherell, Stefan R. Bornstein, Leonardo Guasti
Publikováno v:
Cell Reports, Vol 22, Iss 5, Pp 1236-1249 (2018)
Summary: Adrenal insufficiency is managed by hormone replacement therapy, which is far from optimal; the ability to generate functional steroidogenic cells would offer a unique opportunity for a curative approach to restoring the complex feedback reg
Externí odkaz:
https://doaj.org/article/b1f4e353e7f448a3a66cb5d9fd291cc4
Publikováno v:
Best Practice & Research Clinical Obstetrics & Gynaecology. 81:98-110
The natural lifespan of the ovary is occasionally interrupted by pathological processes; some are known, but many are unknown. Premature ovarian insufficiency (POI) can be a devastating diagnosis for an adolescent or for someone who has yet to start
Publikováno v:
Journal of the Endocrine Society. 6
A girl presenting with delayed puberty and elevated gonadotropins may have a range of conditions such as Turner syndrome (TS), primary ovarian insufficiency (POI), and 46,XY disorders of sexual development (DSD). An organized and measured approach to
Autor:
Davina Puri, Hazel Isabella Learner, Carol Cardona Attard, Vikram Sinai Talaulikar, Lih-Mei Liao, Antoinette Cameron-Pimblett, Clementina La Rosa, Gerard S. Conway, Melanie C. Davies
Publikováno v:
Clinical Endocrinology. 93:473-481
Age at first date and sexual intercourse have been observed to be delayed in women with Turner syndrome (TS), with delayed puberty being the main factor. We sought to assess relationship and sexual experiences comparing women with TS and premature ov
Autor:
Jack C. Wilson, Jessica Elliot, Gerard S. Conway, Vikram Sinai Talaulikar, Antoinette Cameron-Pimblett, Carol Cardona Attard, Melanie C. Davies, Davina Puri
Publikováno v:
Clinical Endocrinology. 91:743-749
Objective Women with early-onset oestrogen deficiency are at risk of reduced bone mineral density (BMD). We sought to assess fracture history and BMD in women with Turner syndrome (TS) and premature ovarian insufficiency (POI). Design A cross-section
Autor:
Jenifer P. Suntharalingham, Ignacio del Valle, John C. Achermann, Gerard S. Conway, Elim Man, Niccolo Striglioni, Gill Rumsby, Federica Buonocore, Lin Lin, Thomas F J King, Oliver Clifford-Mobley, Carlos F. Lagos
Publikováno v:
Journal of the Endocrine Society
Context The genetic basis of human sex development is slowly being elucidated, and >40 different genetic causes of differences (or disorders) of sex development (DSDs) have now been reported. However, reaching a specific diagnosis using traditional a
Publikováno v:
Fertility and Sterility. 112:758-763
Objective To study the effects of increasingly prosperous diet content on clinical features of polycystic ovary syndrome (PCOS). Design A cross-sectional cohort study of 711 women with PCOS from a heterogeneous population spanning a wide spectrum of