Browsing Centre for Endocrinology by Title

099 Ichthyosis associated with sphingosine 1-phosphate lyase deficiency is due to aberrant calcium and sphingolipid regulation

Smith, CJ; Williams, JL; Caley, MP; O’Toole, EA; Prasad, R; Metherell, LA (2021-10-01)

181 Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions

Smith, CJ; Williams, JL; Hall, C; Caley, MP; O’Toole, EA; Prasad, R; Metherell, LA (Elsevier, 2022-12)

2116-P: MAFA S64F Missense Mutation Causes Islet Beta-Cell Aging and Senescence

CHA, J; WALKER, EM; TONG, X; GUO, M; LIU, JH; YU, S; IACOVAZZO, D; MAUVAIS-JARVIS, F; FLANAGAN, SE; KORBONITS, M (2020-06-01)

3T MRI evaluation of regional catecholamine-producing tumor-induced myocardial injury.

Higuchi, S; Ota, H; Ueda, T; Tezuka, Y; Omata, K; Ono, Y; Morimoto, R; Kudo, M; Satoh, F; Takase, K (2019-05-01)

Objective: Regional differences in cardiac magnetic resonance, which can reveal catecholamine-induced myocardial injury in patients with pheochromocytoma, have not yet been assessed using 3T magnetic resonance imaging. We ...

46,XY Partial gonadal dysgenesis; diagnosis and long-term outcome at puberty

Cuccaro, RT; Hughes, I; Cools, M; van de Vijver, K; de Mendonca, BB; Domenice, S; Batista, RL; Dallago, RT; Gomes, NL; Costa, EF (2022)

Aberrant cyclic GMP-AMP synthase stimulator of interferon genes signalling in an AIP mutant cell line

Benjamin, LP; Suleyman, O; Begalli, F; Craig, SG; Hunter, SJ; McArt, DG; James, JA; Haworth, O; Barry, S; Korbonits, M

Abstract 14037: A Shorter Myosin Light Chain Kinase 3 Isoform Maintains Myosin Light Chain 2 Phosphorylation but Does Not Attenuate the Dilated Cardiomyopathy Seen in C57BL/6N Mice

Williams, J; paudyal, A; Stewart, M; Cutillas, P; Cox, RD; Tinker, A; Metherell, L (Wolters Kluwer, 2021-11-16)

Abstract P2005: Loss Of Full-length Mylk3 Causes Dilated Cardiomyopathy Via A MYL2-independent Mechanism

Williams, JL; Paudyal, A; Stewart, M; Cutillas, P; Tinker, A; Metherell, L (Wolters Kluwer, 2022-08-05)

Acromegalic cardiomyopathy in pituitary-specific aryl hydrocarbon receptor interacting protein (Aip) gene knockout animals

Mistry, A; Funge, G; Sebastian, S; Aziz, Q; Solomou, A; Vignola, ML; Thong, LC; Herincs, M; Caimari, F; Gaston-Massuet, C

Acromegaly associated with GIST, non-small cell lung carcinoma, clear cell renal carcinoma, multiple myeloma, medulla oblongata tumour, adrenal adenoma, and follicular thyroid nodules

Jawiarczyk-Przybylowska, A; Wojtczak, B; Whitworth, J; Sutkowski, K; Bidlingmaier, M; Korbonits, M; Bolanowski, M (2019)

ACTH signalling and adrenal development: lessons from mouse models.

Novoselova, TV; King, PJ; Guasti, L; Metherell, LA; Clark, AJL; Chan, LF (2019-07)

The melanocortin-2-receptor (MC2R), also known as the ACTH receptor, is a critical component of the hypothalamic-pituitary-adrenal axis. The importance of MC2R in adrenal physiology is exemplified by the condition familial ...

Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

Gualtieri, A; Kyprianou, N; Gregory, LC; Vignola, ML; Nicholson, JG; Tan, R; Inoue, S-I; Scagliotti, V; Casado, P; Blackburn, J (Springer Nature, 2021-04-01)

Acute kidney injury and mortality 1 year after major non-cardiac surgery

O'Connor, ME; Hewson, RW; Kirwan, CJ; Ackland, GL; Pearse, RM; Prowle, JR (2017-06)

Acute kidney injury in severe sepsis

PROWLE, JR; Bellomo, R (Oxford University Press, 2015-10-22)

Additive Anti-Tumor Effects of Lovastatin and Everolimus In Vitro through Simultaneous Inhibition of Signaling Pathways

Noelting, S; Maurer, J; Spoettl, G; Prada, ETA; Reuther, C; Young, K; Korbonits, M; Goeke, B; Grossman, A; Auernhammer, CJ (2015-12-04)

Adenovirus-based virotherapy enabled by cellular YB-1 expression in vitro and in vivo

Rognoni, E; Widmaier, M; Haczek, C; Mantwill, K; Holzmüller, R; Gansbacher, B; Kolk, A; Schuster, T; Schmid, RM; Saur, D (Springer Science and Business Media LLC, 2009-10)

Adrenal Dysfunction in Mitochondrial Diseases

Corkery-Hayward, M; Metherell, LAA (2023)

Age and puberty based IGF-1 normative data in healthy children from North India.

Malhotra, B; Teja, KR; Bhadada, S; Rastogi, A; Bhansali, A; Sachdeva, N; Minz, RW; Walia, R; Prakash, M; Aggarwal, AK

Age- gender- and tanner stage-specific reference intervals for serum insulin-like growth factor binding protein 3 (IGFBP-3) and the insulin-like growth factor I (IGF-I) to IGFBP-3 molar ratios in healthy school children of a north indian city

Ravi, TK; Marwaha, R; Malhotra, B; Sachdeva, N; Das, L; Rastogi, A; Mukherjee, S; Sharma, S; Verma, N; Malhotra, S

Aggressive pituitary tumours and carcinomas, characteristics and management of 171 patients.

Burman, P; Trouillas, J; Losa, M; McCormack, A; Petersenn, S; Popovic, V; Theodoropoulou, M; Raverot, G; Dekkers, OM; ESE survey collaborators † (2022-10-01)

OBJECTIVE: To describe clinical and pathological characteristics and treatment outcomes in a large cohort of aggressive pituitary tumours (APT)/pituitary carcinomas (PC). DESIGN: Electronic survey August 2020-May 2021. ...