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

Characterising approaches to steroid therapy in paediatric multisystem inflammatory syndrome temporally associated with SARS‐CoV ‐2

Autor: Sinéad M McGlacken‐Byrne, Mae Johnson, Justin Penner, Pascale du Pré, Harshini Katugampola

Publikováno v: Journal of Paediatrics and Child Health.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c2912f32a441d2efadcd659a76240e54
https://doi.org/10.1111/jpc.16408

Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia

Autor: Sinéad M McGlacken-Byrne, Jasmina Kallefullah Mohammad, Niamh Conlon, Diliara Gubaeva, Julie Siersbæk, Anders Jørgen Schou, Huseyin Demirbilek, Antonia Dastamani, Jayne A L Houghton, Klaus Brusgaard, Maria Melikyan, Henrik Christesen, Sarah E Flanagan, Nuala P Murphy, Pratik Shah

Publikováno v: McGlacken-Byrne, S M, Mohammad, J K, Conlon, N, Gubaeva, D, Siersbæk, J, Schou, A J, Demirbilek, H, Dastamani, A, Houghton, J A L, Brusgaard, K, Melikyan, M, Christesen, H, Flanagan, S E, Murphy, N P & Shah, P 2022, ' Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia ', European Journal of Endocrinology, vol. 186, no. 4, pp. 417-427 . https://doi.org/10.1530/EJE-21-0897

Objective The phenotype mediated by HNF4A/HNF1A mutations is variable and includes diazoxide-responsive hyperinsulinaemic hypoglycaemia (HH) and maturity-onset diabetes of the young (MODY). Design We characterised an international multicentre paediat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6c633e75590c4bd7905fb8beb09f440
https://doi.org/10.1530/eje-21-0897

ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency

Autor: Nadjeda Moreno, Ignacio Del Valle Torres, Daniel Kelberman, Louise Ocaka, Chela James, Polona Le Quesne Stabej, Sinéad M. McGlacken-Byrne, Mehul T. Dattani, Gerard S. Conway, Andrey Gagunashvili, John C. Achermann, Berta Crespo, Chiara Bacchelli, Hywel Williams

Publikováno v: The Journal of Clinical Endocrinology and Metabolism

BackgroundPrimary ovarian insufficiency (POI) affects 1% of women and is associated with significant medical consequences. A genetic cause for POI can be found in up to 30% of women, elucidating key roles for these genes in human ovary development.Ob

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc91e3e3fd7b129e88b5a0fc1edf6ef2
https://pubmed.ncbi.nlm.nih.gov/34402903

Analysis of genetic variability in Turner syndrome linked to long-term clinical features

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