Browsing by Author "Clark, AJL"
Now showing items 1-19 of 19
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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 ... -
Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations
Chan, LF; Chung, TT; Massoud, AF; Metherell, LA; Clark, AJL (2009-04) -
Genetics of Familial Glucocorticoid Deficiency over the Decades: Phenotypic Variability and Associated Features
Smith, CJ; Maharaj, AV; Prasad, R; Hughes, CR; Clark, AJL; Chan, LF; Metherell, LA (2019-09) -
Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency
Chan, LF; Metherell, LA; Krude, H; Ball, C; O'Riordan, SMP; Costigan, C; Lynch, SA; Savage, MO; Cavarzere, P; Clark, AJL (2009-08) -
Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity
David, A; Miraki-Moud, F; Shaw, NJ; Savage, MO; Clark, AJL; Metherell, LA (2010-01) -
Identification of a novel specific small-molecule melanocortin-2-receptor antagonist
Forfar, R; Hussain, M; Khurana, P; Cook, J; Lewis, S; Popat, D; Jackson, D; McIver, E; Jerman, J; Taylor, D (2022) -
Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency
Dias, RP; Chan, LF; Metherell, LA; Pearce, SHS; Clark, AJL (2010-02) -
Ligand-specific conformational change of the G-protein-coupled receptor ALX/FPR2 determines proresolving functional responses
Cooray, SN; Gobbetti, T; Montero-Melendez, T; McArthur, S; Thompson, D; Clark, AJL; Flower, RJ; Perretti, M (2013-11-05) -
Loss of Mrap2 is associated with Sim1 deficiency and increased circulating cholesterol
Novoselova, TV; Larder, R; Rimmington, D; Lelliott, C; Wynn, EH; Gorrigan, RJ; Tate, PH; Guasti, L; O'Rahilly, S; Clark, AJL (2016-07) -
The melanocortin receptors and their accessory proteins.
Ramachandrappa, S; Gorrigan, RJ; Clark, AJL; Chan, LF (2013)The five melanocortin receptors (MCRs) named MC1R-MC5R have diverse physiological roles encompassing pigmentation, steroidogenesis, energy homeostasis and feeding behavior as well as exocrine function. Since their ... -
MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation
Novoselova, TV; Hussain, M; King, PJ; Guasti, L; Metherell, LA; Charalambous, M; Clark, AJL; Chan, LF (2018-11) -
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency
Meimaridou, E; Kowalczyk, J; Guasti, L; Hughes, CR; Wagner, F; Frommolt, P; Nuernberg, P; Mann, NP; Banerjee, R; Saka, HN (2012-07) -
Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein
Jain, V; Metherell, LA; David, A; Sharma, R; Sharma, PK; Clark, AJL; Chan, LF (2011-12) -
Pathophysiology of melanocortin receptors and their accessory proteins
Novoselova, TV; Chan, LF; Clark, AJL (2018-04) -
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2
Chung, TTLL; Chan, LF; Metherell, LA; Clark, AJL (2010-05) -
Promiscuity among the MRAPs
Clark, AJL; Chan, LF (2017-04) -
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia
Lin, L; Hindmarsh, PC; Metherell, LA; Alzyoud, M; Al-Ali, M; Brain, CE; Clark, AJL; Dattani, MT; Achermann, JC (2007-02) -
Stability and Turnover of the ACTH Receptor Complex
Clark, AJL; Chan, L (2019-07-26) -
Whole-exome sequencing in the differential diagnosis of primary adrenal insufficiency in children
Chan, LF; Campbell, DC; Novoselova, TV; Clark, AJL; Metherell, LA (2016-08-05)