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Publications:  Prof Adrian Clark

Novoselova TV, Hussain M, King PJ, Guasti L, Metherell LA, Charalambous M, Clark AJL, Chan LF(2018). MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation. FASEB J
10.1096/fj.201701274RR
Novoselova TV, Chan LF, Clark AJL(2018). Pathophysiology of melanocortin receptors and their accessory proteins. Best Pract Res Clin Endocrinol Metab vol. 32, (2) 93-106.
10.1016/j.beem.2018.02.002
Clark AJL, Chan LF(2017). Promiscuity among the MRAPs. Journal of Molecular Endocrinology vol. 58, (3) F1-F4.
10.1530/JME-17-0002
Clark AJ, Forfar R, Hussain M, Jerman J, McIver E, Taylor D, Chan L(2016). ACTH Antagonists. Frontiers in Endocrinology vol. 7,
10.3389/fendo.2016.00101
Clark AJL, Lowry P(2016). 60 YEARS OF POMC: POMC: the consummate peptide hormone precursor. J Mol Endocrinol vol. 56, (4) E1-E2.
10.1530/JME-16-0016
Clark AJL(2016). 60 YEARS OF POMC: The proopiomelanocortin gene: discovery, deletion and disease. J Mol Endocrinol vol. 56, (4) T27-T37.
10.1530/JME-15-0268
Novoselova TV, Larder R, Rimmington D, Lelliott C, Wynn E, Gorrigan RJ, Tate P, Guasti L et al.(2016). Loss of Mrap2 is associated with Sim 1 deficiency and increased circulating cholesterol. Journal of EndocrinologyJOE-16-0057-JOE-16-0057.
10.1530/JOE-16-0057
Jackson DS, Ramachandrappa S, Clark AJ, Chan LF(2015). Melanocortin receptor accessory proteins in adrenal disease and obesity. Front Neurosci vol. 9,
10.3389/fnins.2015.00213
Chan LF, Campbell DC, Novoselova TV, Clark AJL, Metherell LA(2015). Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children. Front Endocrinol (Lausanne) vol. 6,
10.3389/fendo.2015.00113
Prasad R, Chan LF, Hughes CR, Kaski JP, Kowalczyk JC, Savage MO, Peters CJ, Nathwani N et al.(2014). Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). J Clin Endocrinol Metab vol. 99, (8) E1556-E1563.
10.1210/jc.2013-3844
Cooray SN, Gobbetti T, Montero-Melendez T, McArthur S, Thompson D, Clark AJL, Flower RJ, Perretti M(2013). Ligand-specific conformational change of the G-protein-coupled receptor ALX/FPR2 determines proresolving functional responses. Proc Natl Acad Sci U S A vol. 110, (45) 18232-18237.
10.1073/pnas.1308253110
Josep Agulleiro M, Cortés R, Fernández-Durán B, Navarro S, Guillot R, Meimaridou E, Clark AJL, Cerdá-Reverter JM(2013). Melanocortin 4 receptor becomes an ACTH receptor by coexpression of melanocortin receptor accessory protein 2. Mol Endocrinol vol. 27, (11) 1934-1945.
10.1210/me.2013-1099
Habeb AM, Hughes CR, Al-Arabi R, Al-Muhamadi A, Clark AJL, Metherell LA(2013). Familial glucocorticoid deficiency: a diagnostic challenge during acute illness. EUROPEAN JOURNAL OF PEDIATRICS vol. 172, (10) 1407-1410.
10.1007/s00431-013-2044-1
Prasad R, Metherell LA, Clark AJ, Storr HL(2013). Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis. Endocrinology vol. 154, (9) 3209-3218.
10.1210/en.2013-1241
Meimaridou E, Prasad R, Kowalczyk JC, Clark AJL, Storr HL, Metherell LA(2013). Genome sequencing reveals mitochondrial thiol systems are essential for antioxidant defence in human adrenal glands. FREE RADICAL BIOLOGY AND MEDICINE vol. 65, S38-S38.
10.1016/j.freeradbiomed.2013.08.052
Asai M, Ramachandrappa S, Joachim M, Shen Y, Zhang R, Nuthalapati N, Ramanathan V, Strochlic DE et al.(2013). Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity. Science vol. 341, (6143) 275-278.
10.1126/science.1233000
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL et al.(2013). Familial glucocorticoid deficiency: New genes and mechanisms. Molecular and Cellular Endocrinology vol. 371, (1-2) 195-200.
10.1016/j.mce.2012.12.010
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL et al.(2013). Familial glucocorticoid deficiency: New genes and mechanisms. Mol Cell Endocrinol vol. 371, (1-2) 195-200.
10.1016/j.mce.2012.12.010
Novoselova TV, Jackson D, Campbell DC, Clark AJL, Chan LF(2013). Melanocortin receptor accessory proteins in adrenal gland physiology and beyond. J Endocrinol vol. 217, (1) R1-11.
10.1530/JOE-12-0501
Meimaridou E, Hughes CR, Kowalczyk J, Chan LF, Clark AJL, Metherell LA(2013). ACTH resistance: genes and mechanisms. Endocr Dev vol. 24, 57-66.
10.1159/000342504
de Graaff LCG, Clark AJL, Tauber M, Ranke MB, Johnston LB, Caliebe J, Molinas C, Amin N et al.(2013). Association Analysis of Ten Candidate Genes in a Large Multinational Cohort of Small for Gestational Age Children and Children with Idiopathic Short Stature (NESTEGG study). HORMONE RESEARCH IN PAEDIATRICS vol. 80, (6) 466-476.
10.1159/000355409
Clark AJL (2013). Discussion on Nutrition and Genetics. RECENT ADVANCES IN GROWTH RESEARCH: NUTRITIONAL, MOLECULAR AND ENDOCRINE PERSPECTIVES. vol. 71, 39-42.
10.1159/000342547
Altobelli G, Bogdarina IG, Stupka E, Clark AJL, Langley-Evans S(2013). Genome-wide methylation and gene expression changes in newborn rats following maternal protein restriction and reversal by folic acid. PLoS One vol. 8, (12)
10.1371/journal.pone.0082989
Ramachandrappa S, Gorrigan RJ, Clark AJL, Chan LF(2013). The melanocortin receptors and their accessory proteins. Front Endocrinol (Lausanne) vol. 4,
10.3389/fendo.2013.00009
Dias RP, Bogdarina I, Cazier J-B, Buchanan C, Donaldson MC, Johnston LB, Hokken-Koelega AC, Clark AJL(2012). Multiple segmental uniparental disomy associated with abnormal DNA methylation of imprinted Loci in silver-russell syndrome. J Clin Endocrinol Metab vol. 97, (11) E2188-E2193.
10.1210/jc.2012-1980
Prasad R, Clark AJ, Storr HL(2012). Deficiency of ALADIN, the AAAS gene product, renders human adrenal and neuronal cells susceptible to oxidative stress. FREE RADICAL BIOLOGY AND MEDICINE vol. 53, S224-S224.
10.1016/j.freeradbiomed.2012.08.470
Meimaridou E, Kowalczyk J, Guasti L, Hughes CR, Wagner F, Frommolt P, Nürnberg P, Mann NP et al.(2012). Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. Nat Genet vol. 44, (7) 740-742.
10.1038/ng.2299
Turan S, Hughes C, Atay Z, Guran T, Haliloglu B, Clark AJL, Bereket A, Metherell LA(2012). An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W). J Clin Endocrinol Metab vol. 97, (5) E771-E774.
10.1210/jc.2011-2414
Hughes CR, Guasti L, Meimaridou E, Chuang C-H, Schimenti JC, King PJ, Costigan C, Clark AJL et al.(2012). MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. JOURNAL OF CLINICAL INVESTIGATION vol. 122, (3) 814-820.
10.1172/JCI60224
Clark AJL, Storr HL, Meimaridou E, Metherell AL (2012). Oxidative Stress as a Disease Mechanism in Inherited Adrenal Failure. JOURNAL OF PATHOLOGY. vol. 226, S6-S6.
Jain V, Metherell LA, David A, Sharma R, Sharma PK, Clark AJL, Chan LF(2011). Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein. Eur J Endocrinol vol. 165, (6) 987-991.
10.1530/EJE-11-0581
Cooray SN, Guasti L, Clark AJL(2011). The E3 ubiquitin ligase Mahogunin ubiquitinates the melanocortin 2 receptor. Endocrinology vol. 152, (11) 4224-4231.
10.1210/en.2011-0147
Meimaridou E, Gooljar SB, Ramnarace N, Anthonypillai L, Clark AJL, Chapple JP(2011). The cytosolic chaperone Hsc70 promotes traffic to the cell surface of intracellular retained melanocortin-4 receptor mutants. Mol Endocrinol vol. 25, (9) 1650-1660.
10.1210/me.2011-1020
David A, Hwa V, Metherell LA, Netchine I, Camacho-Hübner C, Clark AJL, Rosenfeld RG, Savage MO(2011). Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity. Endocr Rev vol. 32, (4) 472-497.
10.1210/er.2010-0023
Chan LF, Metherell LA, Clark AJL(2011). Effects of melanocortins on adrenal gland physiology. EUR J PHARMACOL vol. 660, (1) 171-180.
10.1016/j.ejphar.2010.11.041
Gorrigan RJ, Guasti L, King P, Clark AJ, Chan LF(2011). Localisation of the melanocortin-2-receptor and its accessory proteins in the developing and adult adrenal gland. J Mol Endocrinol vol. 46, (3) 227-232.
10.1530/JME-11-0011
Clark AJL, Ray DW(2011). Thematic reviews. J Endocrinol vol. 209, (3)
10.1530/JOE-11-0091
Cooray SN, Chung T-T, Mazhar K, Szidonya L, Clark AJL(2011). Bioluminescence resonance energy transfer reveals the adrenocorticotropin (ACTH)-induced conformational change of the activated ACTH receptor complex in living cells. Endocrinology vol. 152, (2) 495-502.
10.1210/en.2010-1053
Cooray SN, Clark AJL(2011). Melanocortin receptors and their accessory proteins. Mol Cell Endocrinol vol. 331, (2) 215-221.
10.1016/j.mce.2010.07.015
Hirsch A, Meimaridou E, Fernandez-Cancio M, Pandey AV, Clemente M, Audi L, Clark AJL, Flück CE(2011). Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity. J Clin Endocrinol Metab vol. 96, (1) E65-E72.
10.1210/jc.2010-1056
Hughes CR, Chung TT, Habeb AM, Kelestimur F, Clark AJL, Metherell LA(2010). Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2. J Clin Endocrinol Metab vol. 95, (7) 3497-3501.
10.1210/jc.2009-2731
David A, Srirangalingam U, Metherell LA, Khoo B, Clark AJL(2010). Repair of aberrant splicing in growth hormone receptor by antisense oligonucleotides targeting the splice sites of a pseudoexon. J Clin Endocrinol Metab vol. 95, (7) 3542-3546.
10.1210/jc.2009-1968
Cooray SN, Chung TT, Szidonya L, Clark AJL (2010). Dissection of the MC2R-MRAP Complex in Live Cells Using Bioluminescence Resonance Energy Transfer. ENDOCRINE REVIEWS. vol. 31, S2464-S2464.
Hughes C, Chung TT, Clark AJ, Metherell L(2010). FUNCTIONAL CHARACTERISATION OF A MISSENSE MUTATION OF MRAP LEADING TO FAMILIAL GLUCOCORTICOID DEFICIENCY. IRISH J MED SCI vol. 179, S263-S263.
Hirsch A, Audi L, Meimaridou E, Clark AJL, Fluck CE (2010). Loss of the C-Terminus of Melanocortin Receptor 2 (MC2R) Results in Impaired Cell Surface Expression and ACTH Insensitivity. ENDOCRINE REVIEWS. vol. 31, S2463-S2463.
Moyes VJ, Walker DM, Owusu-Antwi S, Maher KT, Metherell L, Akker SA, Monson JP, Clark AJL et al.(2010). d3-GHR genotype does not explain heterogeneity in GH responsiveness in hypopituitary adults. Clin Endocrinol (Oxf) vol. 72, (6) 807-813.
10.1111/j.1365-2265.2009.03768.x
Chung T-TLL, Chan LF, Metherell LA, Clark AJL(2010). Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. Clin Endocrinol (Oxf) vol. 72, (5) 589-594.
10.1111/j.1365-2265.2009.03663.x
Szekeres M, Nádasy GL, Turu G, Süpeki K, Szidonya L, Buday L, Chaplin T, Clark AJL et al.(2010). Angiotensin II-induced expression of brain-derived neurotrophic factor in human and rat adrenocortical cells. Endocrinology vol. 151, (4) 1695-1703.
10.1210/en.2009-1060
Webb TR, Clark AJL(2010). Minireview: the melanocortin 2 receptor accessory proteins. Mol Endocrinol vol. 24, (3) 475-484.
10.1210/me.2009-0283
Bogdarina I, Haase A, Langley-Evans S, Clark AJL(2010). Glucocorticoid effects on the programming of AT1b angiotensin receptor gene methylation and expression in the rat. PLoS One vol. 5, (2)
10.1371/journal.pone.0009237
Dias RP, Chan LF, Metherell LA, Pearce SHS, Clark AJL(2010). Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency. Eur J Endocrinol vol. 162, (2) 357-359.
10.1530/EJE-09-0720
David A, Rose SJ, Miraki-Moud F, Metherell LA, Savage MO, Clark AJL, Camacho-Hübner C(2010). Acid-labile subunit deficiency and growth failure: description of two novel cases. Horm Res Paediatr vol. 73, (5) 328-334.
10.1159/000308164
Storr HL, Metherell LA, Dias R, Savage MO, Rasmussen AK, Clark AJL, Main KM(2010). Familial Isolated Primary Pigmented Nodular Adrenocortical Disease Associated with a Novel Low Penetrance PRKAR1A Gene Splice Site Mutation. HORM RES PAEDIAT vol. 73, (2) 115-119.
10.1159/000277629
Storr HL, Metherell LA, Dias R, Savage MO, Rasmussen AK, Clark AJL, Main KM(2010). Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation. Horm Res Paediatr vol. 73, (2) 115-119.
10.1159/000277629
David A, Miraki-Moud F, Shaw NJ, Savage MO, Clark AJL, Metherell LA(2010). Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity. Eur J Endocrinol vol. 162, (1) 37-42.
10.1530/EJE-09-0583
Storr HL, Kind B, Parfitt DA, Chapple JP, Lorenz M, Koehler K, Huebner A, Clark AJL(2009). Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism. Mol Endocrinol vol. 23, (12) 2086-2094.
10.1210/me.2009-0056
Metherell LA, Naville D, Halaby G, Begeot M, Huebner A, Nürnberg G, Nürnberg P, Green J et al.(2009). Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. J Clin Endocrinol Metab vol. 94, (10) 3865-3871.
10.1210/jc.2009-0467
Bogdarina IG, King PJ, Clark AJL(2009). Characterization of the angiotensin (AT1b) receptor promoter and its regulation by glucocorticoids. J Mol Endocrinol vol. 43, (2) 73-80.
10.1677/JME-09-0036
Chan LF, Metherell LA, Krude H, Ball C, O'Riordan SMP, Costigan C, Lynch SA, Savage MO et al.(2009). Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency. CLIN ENDOCRINOL vol. 71, (2) 171-175.
10.1111/j.1365-2265.2008.03511.x
Chan LF, Webb TR, Chung T-T, Meimaridou E, Cooray SN, Guasti L, Chapple JP, Egertová M et al.(2009). MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family. Proc Natl Acad Sci U S A vol. 106, (15) 6146-6151.
10.1073/pnas.0809918106
Welham SJM, Clark AJL, Salter AM(2009). A novel liver specific isoform of the rat LAR transcript is expressed as a truncated isoform encoded from a 5 ' UTR located within intron 11. BMC MOL BIOL vol. 10, Article 30,
10.1186/1471-2199-10-30
Chan LF, Chung T-T, Massoud AF, Metherell LA, Clark AJL(2009). Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations. Eur J Endocrinol vol. 160, (4) 705-710.
10.1530/EJE-08-0636
Johnston LB, Ester W, Caliebe J, Molinas C, Wollmann H, Fryklund L, Clark AJ, Ranke MB et al. (2009). Network of European studies of genes in growth (NESTEGG). Horm Res. vol. 71 Suppl 2, 48-54.
10.1159/000192436
Clark AJL, Chan LF, Chung T-T, Metherell LA(2009). The genetics of familial glucocorticoid deficiency. Best Pract Res Clin Endocrinol Metab vol. 23, (2) 159-165.
10.1016/j.beem.2008.09.006
Cooray SN, Chan L, Webb TR, Metherell L, Clark AJL(2009). Accessory proteins are vital for the functional expression of certain G protein-coupled receptors. Mol Cell Endocrinol vol. 300, (1-2) 17-24.
10.1016/j.mce.2008.10.004
Webb TR, Chan L, Cooray SN, Cheetham ME, Chapple JP, Clark AJL(2009). Distinct melanocortin 2 receptor accessory protein domains are required for melanocortin 2 receptor interaction and promotion of receptor trafficking. Endocrinology vol. 150, (2) 720-726.
10.1210/en.2008-0941
Chan LF, David A, Jain V, Clark AJL, Metherell LA(2009). A novel splice mutation (IVSds3+3insTA) in the melanocortin 2 receptor accessory protein that leads to skipping of exon 3. HORM RES vol. 72, 70-70.
Hughes CR, Chung TT, Habeb AM, Clark AJ, Metherell LA(2009). Functional characterisation of a missense mutation (p.Y59D) of MRAP which leads to familial glucocorticoid deficiency type 2. HORM RES vol. 72, 42-42.
de Graaff L, Johnston L, Ester W, Tauber M, Clark A, Ranke M, Caliebe J, Molinas C et al.(2009). Genetic association analysis of 10 candidate genes in a large multinational cohort of SGA children and children with idiopathic short stature (NESTEGG). HORM RES vol. 72, 36-36.
Dias RP, Bogdarina I, Johnston LB, Buchanan C, Hokken-Koelega A, Clark AJL(2009). Genome-wide abnormalities in parental inheritance patterns and DNA methylation in Silver-Russell syndrome. HORM RES vol. 72, 43-44.
Metherell LA, Chung TT, Chan LF, Clark AJL(2009). Genotype:phenotype relationships in familial glucocorticoid deficiency types 1 and 2. HORM RES vol. 72, 211-211.
Savage MO, David A, Camacho-Hubner C, Metherell LA, Clark AJL(2009). Phenotypic aspects of growth hormone- and IGF-I-resistant syndromes. Endocr Dev vol. 14, 143-150.
10.1159/000207483
Elias LLK, Clark AJL(2009). The Molecular Basis of Adrenocorticotrophin Resistance Syndrome. G PROTEIN-COUPLED RECEPTORS IN HEALTH AND DISEASE, PT A vol. 88, 155-171.
10.1016/S1877-1173(09)88005-8
Chung TT, Webb TR, Chan LF, Cooray SN, Metherell LA, King PJ, Chapple JP, Clark AJL(2008). The Majority of Adrenocorticotropin Receptor (Melanocortin 2 Receptor) Mutations Found in Familial Glucocorticoid Deficiency Type 1 Lead to Defective Trafficking of the Receptor to the Cell Surface. J CLIN ENDOCR METAB vol. 93, (12) 4948-4954.
10.1210/jc.2008-1744
O'Riordan SMP, Lynch SA, Hindmarsh PC, Chan LF, Clark AJL, Costigan C(2008). A novel variant of familial glucocorticoid deficiency prevalent among the Irish traveler population. J CLIN ENDOCR METAB vol. 93, (7) 2896-2899.
10.1210/jc.2008-0034
Collares CVA, Antunes-Rodrigues J, Moreira AC, Franca SN, Pereira LA, Soares MMS, Elias J, Clark AJ et al.(2008). Heterogeneity in the molecular basis of ACTH resistance syndrome. EUR J ENDOCRINOL vol. 159, (1) 61-68.
10.1530/EJE-08-0079
Janes ME, Chu KME, Clark AJL, King PJ(2008). Mechanisms of adrenocorticotropin-induced activation of extracellularly regulated kinase 1/2 mitogen-activated protein kinase in the human H295R adrenal cell line. ENDOCRINOLOGY vol. 149, (4) 1898-1905.
10.1210/en.2007-0949
Cooray SN, Do Vale IA, Leung KY, Webb TR, Chapple JP, Egertova M, Cheetham ME, Elphick MR et al.(2008). The melanocortin 2 receptor accessory protein exists as a homodimer and is essential for the function of the melanocortin 2 receptor in the mouse Y1 cell line. ENDOCRINOLOGY vol. 149, (4) 1935-1941.
10.1210/en.2007-1463
Cooray SN, Chan L, Metherell L, Storr H, Clark AJL(2008). Adrenocorticotropin resistance syndromes. Endocr Dev vol. 13, 99-116.
10.1159/000134828
Johnston L, Ester W, Koelega AH, Ranke M, Caliebe J, Caulfield M, Tauber M, Molinas C et al.(2008). Analysis of GDF5-UQCC polymorphism with height in NESTEGG SGA and ISS subjects. HORM RES vol. 70, 90-90.
Chan LF, Clark AJL, Metherell LA(2008). Familial glucocorticoid deficiency: Advances in the molecular understanding of ACTH action. HORM RES vol. 69, (2) 75-82.
10.1159/000111810
Chan L, Chung TT, Massoud A, Metherell L, Clark A(2008). Functional consequence of two opposing MC2R mutations in a child with severe FGD phenotype. HORM RES vol. 70, 23-23.
Dias R, Chaplin T, Jones J, Hall C, Ston H, Patton M, Savage M, Clark A(2008). Homozygosity mapping of possible genetic locus in small for gestational age siblings with a previously undescribed severe short stature syndrome. HORM RES vol. 70, 110-110.
Doufexis M, Storr HL, King PJ, Clark AJL(2007). Interaction of the melanocortin 2 receptor with nucleoporin 50: evidence for a novel pathway between a G-protein-coupled receptor and the nucleus. FASEB J vol. 21, (14) 4095-4100.
10.1096/fj.06-7927com
Rumie H, Metherell LA, Clark AJL, Beauloye V, Maes M(2007). Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein. EUR J ENDOCRINOL vol. 157, (4) 539-542.
10.1530/EJE-07-0242
Tauber M, Ester W, Auriol F, Molinas C, Fauvel J, Caliebe J, Nugent T, Fryklund L et al.(2007). GH responsiveness in a large multinational cohort of SGA children with short stature (NESTEGG) is related to the exon 3 GHR polymorphism. CLIN ENDOCRINOL vol. 67, (3) 457-461.
10.1111/j.1365-2265.2007.02911.x
Savage MO, Camacho-Hübner C, David A, Metherell LA, Hwa V, Rosenfeld RG, Clark AJL(2007). Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?. Eur J Endocrinol vol. 157 Suppl 1, S33-S37.
10.1530/EJE-07-0292
Keegan CE, Hutz JE, Krause AS, Koehler K, Metherell LA, Boikos S, Stergiopoulos S, Clark AJL et al.(2007). Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes. CLIN ENDOCRINOL vol. 67, (2) 168-174.
10.1111/j.1365-2265.2007.02855.x
Szidonya L, Supeki K, Karip E, Turu G, Varnai P, Clark AJL, Hunyady L(2007). AT(1) receptor blocker-insensitive mutant AT(1A) angiotensin receptors reveal the presence of G protein-independent signaling in C9 cells. BIOCHEM PHARMACOL vol. 73, (10) 1582-1592.
10.1016/j.bcp.2007.01.012
Bogdarina I, Welham S, King PJ, Burns SP, Clark AJL(2007). Epigenetic modification of the renin-angiotensin system in the fetal programming of hypertension. CIRC RES vol. 100, (4) 520-526.
10.1161/01.RES.0000258855.60637.58
David A, Camacho-Hubner C, Bhangoo A, Rose SJ, Miraki-Moud F, Akker SA, Butler GE, Ten S et al.(2007). An intronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes. J CLIN ENDOCR METAB vol. 92, (2) 655-659.
10.1210/jc.2006-1527
Lin L, Hindmarsh PC, Metherell LA, Alzyoud M, Al-Ali M, Brain CE, Clark AJL, Dattani MT et al.(2007). Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. CLIN ENDOCRINOL vol. 66, (2) 205-210.
10.1111/j.1365-2265.2006.02709.x
Noon LA, Clark AJL, O'Shaughnessy PJ, King PJ(2006). A CCAAT/enhancer-binding protein site at-87 is required for the activation of a novel murine melanocortin 2-receptor promoter at late stages during adipogenesis. ENDOCRINOLOGY vol. 147, (12) 6019-6026.
10.1210/en.2006-0867
Noon LA, Bakmanidis A, Clark AJL, O'Shaughnessy PJ, King PJ(2006). Identification of a novel melanocortin 2 receptor splice variant in murine adipocytes: implications for post-transcriptional control of expression during adipogenesis. J MOL ENDOCRINOL vol. 37, (3) 415-420.
10.1677/jme.1.02023
Metherell LA, Chan LF, Clark AJL(2006). The genetics of ACTH resistance syndromes. Best Pract Res Clin Endocrinol Metab vol. 20, (4) 547-560.
10.1016/j.beem.2006.09.002
Savage MO, Attie KM, David A, Metherell LA, Clark AJL, Camacho-Huubner C(2006). Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders. NAT CLIN PRACT ENDOC vol. 2, (7) 395-407.
10.1038/ncpendmet0195
Clark AJL, Metherell LA(2006). Mechanisms of disease: the adrenocorticotropin receptor and disease. NAT CLIN PRACT ENDOC vol. 2, (5) 282-290.
10.1038/ncpendmet0165
Maamra M, Milward A, Esfahani HZ, Abbott LP, Metherell LA, Savage MO, Clark AJL, Ross RJM(2006). A 36 residues insertion in the dimerization domain of the growth hormone receptor results in defective trafficking rather than impaired signaling. J ENDOCRINOL vol. 188, (2) 251-261.
10.1677/joe.1.06252
Turu G, Szidonya L, Gaborik Z, Buday L, Spat A, Clark AJL, Hunyady L(2006). Differential beta-arrestin binding of AT(1) and AT(2) angiotensin receptors. FEBS LETT vol. 580, (1) 41-45.
10.1016/j.febslet.2005.11.044
Storr H, Koehler K, Huebner A, Chapple JP, Clark AJL(2006). A candidate interacting protein for the nuclear pore protein ALADIN: a potential pathogenic mechanism for the triple A syndrome. HORM RES vol. 65, 16-16.
CLARK AJL, Johnston LB(2006). Pharmacogenetics Of Growth Hormone Therapy. KIGS Yearbook
10.1159/000101941
Johnston L, Nugent T, Ester W, Caliebe J, Molinas C, Payen C, Oliver I, Jones H et al.(2006). Phenotypic characterisation of parents of SGA or ISS children: results from the network of European studies of genes in growth (NESTEGG study). HORM RES vol. 65, 176-176.
Clark AJL, Metherell LA, Cheetham ME, Huebner A(2005). Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. TRENDS ENDOCRIN MET vol. 16, (10) 451-457.
10.1016/j.tem.2005.10.006
CLARK AJL, Storr HL, Priestley JV, Michael GJ(2005). Identification of the sites of expression of triple a syndrome mRNA in the rat using hybridisation. Neuroscience vol. 131, (1) 113-123.
10.1016/j.neuroscience.2004.10.029
David A, Metherell LA, Clark AJL, Camacho-Hubner C, Savage MO(2005). Diagnostic and therapeutic advances in growth hormone insensitivity. ENDOCRIN METAB CLIN vol. 34, (3) 581-+.
10.1016/j.ecl.2005.04.009
Clark JLA, Metherell LA, Naville D, Begeot M, Huebner A (2005). Genetics of ACTH insensitivity syndromes. Ann Endocrinol (Paris). vol. 66, 247-249.
10.1016/S0003-4266(05)81757-3
Swords FM, Aylwin S, Perry L, Arola J, Grossman AB, Monson JP, Clark AJL(2005). The aberrant expression of the gastric inhibitory polypeptide (GIP) receptor in adrenal hyperplasia: Does chronic adrenocorticotropin exposure stimulate up-regulation of GIP receptors in Cushing's disease?. J CLIN ENDOCR METAB vol. 90, (5) 3009-3016.
10.1210/jc.2004-0946
Metherell LA, Chapple JP, Cooray S, David A, Becker C, Ruschendorf F, Naville D, Begeot M et al.(2005). Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. NAT GENET vol. 37, (2) 166-170.
10.1038/ng1501
Hui HNT, Metherell LA, Ng KL, Savage MO, Camacho-Hubner C, Clark AJL(2005). Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome. J PEDIATR ENDOCR MET vol. 18, (2) 209-213.
10.1515/jpem.2005.18.2.209
CLARK AJL, Metherell LA, Huebner A, Begeot M, Naville D(2005). Genetics of ACTH insensitivity syndromes. Annals of Endocrinology vol. 66, 247-249.
Savage MO, Camacho-Hubner C, Walenkamp MJ, Metherell LA, David A, Pereira LA, Denley A, Clark AJL et al. (2005). IGF-I deficiency: Lessons from human mutations. Deciphering Growth. Editors: Carel, JC, Kelly, PA, Christen, Y, 95-105.
10.1007/3-540-28902-X_8
Storr HL, Clark AJL, Priestley JV, Michael GJ(2005). Identification of the sites of expression of triple a syndrome mRNA in the rat using in situ hybridisation. NEUROSCIENCE vol. 131, (1) 113-123.
10.1016/j.neuroscience.2004.10.029
Storr HL, Mitchell H, Swords FM, Main KM, Hindmarsh PC, Betts PR, Shaw NJ, Johnston DI et al.(2004). Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia. CLIN ENDOCRINOL vol. 61, (5) 553-559.
10.1111/j.1365-2265.2004.02124.x
Metherell LA, Savage MO, Dattani M, Walker J, Clayton PE, Farooqi IS, Clark AJL(2004). TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. EUR J ENDOCRINOL vol. 151, (4) 463-465.
10.1530/eje.0.1510463
Noon LA, Clark AJL, Peter JK(2004). A peroxisome proliferator-response element in the murine mc2-r promoter regulates its transcriptional activation during differentiation of 3T3-L1 adipocytes. J BIOL CHEM vol. 279, (22) 22803-22808.
10.1074/jbc.M401861200
Hunyady L, Gaborik Z, Shah BH, Jagadeesh G, Clark AJL, Catt KJ (2004). Structural determinants of agonist-induced signaling and regulation of the angiotensin AT(1) receptor. MOLECULAR AND CELLULAR ENDOCRINOLOGY. vol. 217, 89-100.
10.1016/j.mce.2003.10.014
Milward A, Metherell L, Maamra M, Barahona MJ, Wilkinson IR, Camacho-Hubner C, Savage MO, Bidlingmaier CM et al.(2004). Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after box1, resulting in isolated failure of STAT 5 signal transduction. J CLIN ENDOCR METAB vol. 89, (3) 1259-1266.
10.1210/jc.2003-031418
Bogdarina I, Murphy HC, Burns SP, Clark AJL(2004). Investigation of the role of epigenetic modification of the rat glucokinase gene in fetal programming. LIFE SCI vol. 74, (11) 1407-1415.
10.1016/j.lfs.2003.08.017
Swords FM, Noon LA, King PJ, Clark AJL(2004). Constitutive activation of the human ACTH receptor resulting from a synergistic interaction between two naturally occurring missense mutations in the MC2R gene. MOL CELL ENDOCRINOL vol. 213, (2) 149-154.
10.1016/j.mce.2003.10.052
Swords FM, Arola J, Aylwin S, Clark AJL (2004). Gastric inhibitory polypeptide receptor (GIPR) expression in Cushing's disease. ENDOCRINE RESEARCH. vol. 30, 965-966.
10.1081/ERC-20044176
Metherell LA, Cooray S, Huebner A, Ruschendorf F, Naville D, Begeot M, Clark AJL (2004). Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2. ENDOCRINE RESEARCH. vol. 30, 889-890.
10.1081/ERC-20044136
CLARK AJL, Jagdeesh G, Catt KJ, Shah BH, Hunyady L, Gaborik Z(2004). Structural determinants of agonist-induced signaling and regulaton of the angiotensin AT1 receptor. Molecular and cellular Endocrinology vol. 217, 89-100.
10.1016/j.mce.2003.10.014
Johnston LB, Dahlgren J, Leger J, Gelander L, Savage MO, Czernichow P, Wikland KA, Clark AJL(2003). Association between insulin-like growth factor I (IGF-I) polymorphisms, circulating IGF-I, and pre- and postnatal growth in two European small for gestational age populations. J CLIN ENDOCR METAB vol. 88, (10) 4805-4810.
10.1210/jc.2003-030563
Orkin RD, New DI, Norman D, Chew SL, Clark AJL, Grossman AB, Korbonits M(2003). Rapid desensitisation of the GH secretagogue (ghrelin) receptor to hexarelin in vitro. J ENDOCRINOL INVEST vol. 26, (8) 743-747.
10.1007/BF03347357
Murphy HC, Regan G, Bogdarina IG, Clark AJL, Iles RA, Cohen RD, Hitman GA, Berry CL et al.(2003). Fetal programming of perivenous glucose uptake reveals a regulatory mechanism governing hepatic glucose output during refeeding. Diabetes vol. 52, (6) 1326-1332.
10.2337/diabetes.52.6.1326
Norman D, Isidori AM, Frajese V, Caprio M, Chew SL, Grossman AB, Clark AJ, Michael Besser G et al.(2003). ACTH and alpha-MSH inhibit leptin expression and secretion in 3T3-L1 adipocytes: model for a central-peripheral melanocortin-leptin pathway. Mol Cell Endocrinol vol. 200, (1-2) 99-109.
10.1016/S0303-7207(02)00410-0
Handschug K, CLARK AJL, Reshmi-Skarja S, Gollin SM, Finegold DN, Huebner A(2003). Chromosomal fragility in patients with triple A syndrome. Am J Med Genet. vol. 117A, (1) 30-36.
10.1002/ajmg.a.10846
CLARK AJL, Hunyady L, Catt KJ, Varnai P, Mihalik B, Gaborik Z(2003). Endocytosis of the AT(1A) angiotensin receptor is independent of ubiquitylation of its cytoplasmic serine/threonine-rich region. Int J biochem Cell Biol. vol. 35, (6) 992-1002.
10.1016/S1357-2725(02)00277-7
Clark AJL, Baig AH, Noon L, Swords FM, Hunyady L, King PJ (2003). Expression, desensitization, and internalization of the ACTH receptor (MC2R). MELANOCORTIN SYSTEM. Editors: Cone, RD, vol. 994, 111-117.
10.1111/j.1749-6632.2003.tb03169.x
CLARK AJL, de Jong FH, van Koetsveld PM, van der Lely AJ, Bonjer HJ, de Herder WW, Hofland LJ, Lamberts SW et al.(2003). Luteinizing hormone (LH)- responsive Cushing's syndrome: the demonstration of LH receptor messenger ribonucleic acid in hyperplastic adrenal cells, which respond to chorionic gonadotropin and serotonin agonists in vitro. J Clin Endocrinol Metab. vol. 88, (1) 230-237.
10.1210/jc.2002-020621
Storr HL, Savage MO, Clark AJL(2002). Advances in the understanding of the genetic basis of adrenal insufficiency. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM vol. 15, 1323-1328.
Johnston LB, Arends N, Dahlgren J, Leger J, Czernichow P, Albertsson-Wikland K, van Duijn C, Hokken-Koelega A et al.(2002). Gene association studies in small for gestational age infants. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM vol. 15, 1459-1459.
Swords FM, Baig A, Malchoff DM, Malchoff CD, Thorner MO, King PJ, Hunyady L, Clark AJL(2002). Impaired desensitization of a mutant adrenocorticotropin receptor associated with apparent constitutive activity. MOL ENDOCRINOL vol. 16, (12) 2746-2753.
10.1210/me.2002-0099
Camacho-Hübner C, Woods KA, Clark AJL, Savage MO(2002). Insulin-like growth factor (IGF)-I gene deletion. Rev Endocr Metab Disord vol. 3, (4) 357-361.
10.1023/a:1020957809082
Johnston LB, Fryklund L, Clark AJL, Hokken-Koelega A, Ranke M, Savage MO, Tauber M(2002). NESTEGG: Aims and strategies. Journal of Pediatric Endocrinology and Metabolism vol. 15, (SUPPL. 5) 1441-1442.
Johnston LB, Fryklund L, Clark AJL, Hokken-Koelega A, Ranke M, Savage MO, Tauber M(2002). NESTEGG: aims and strategies. Northern European Study of Genes in Growth. J Pediatr Endocrinol Metab vol. 15 Suppl 5, 1441-1442.
Savage MO, Blair JC, Burren CP, Camacho-Hubner C, Woods KA, Metherell L, Clark AJL (2002). Phenotypic variability in growth hormone insensitivity. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. vol. 15, 1449-1450.
Genin E, Huebner A, Jaillard C, Faure A, Halaby G, Saka N, Clark AJL, Durand P et al.(2002). Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity. HUM GENET vol. 111, (4-5) 428-434.
10.1007/s00439-002-0806-3
Bjarnason R, Banerjee K, Rose SJ, Rosberg S, Metherell L, Clark AJL, Albertsson-Wikland K, Savage MO(2002). Spontaneous growth hormone secretory characteristics in children with partial growth hormone insensitivity. CLIN ENDOCRINOL vol. 57, (3) 357-361.
10.1046/j.1365-2265.2002.01607.x
Noon LA, Franklin JM, King PJ, Goulding NJ, Hunyady L, Clark AJL(2002). Failed export of the adrenocorticotrophin receptor from the endoplasmic reticulum in non-adrenal cells: evidence in support of a requirement for a specific adrenal accessory factor. J ENDOCRINOL vol. 174, (1)
10.1677/joe.0.1740017
Arends N, Johnston L, Hokken-Koelega A, van Duijn C, De Ridder M, Savage M, Clark A(2002). Polymorphism in the IGF-I gene: Clinical relevance for short children born small for gestational age (SGA). J CLIN ENDOCR METAB vol. 87, (6) 2720-2724.
10.1210/jcem.87.6.8673
Orrell RW, Clark AJL(2002). ALADIN, but where's the Genie?. NEUROLOGY vol. 58, (6) 847-848.
10.1212/wnl.58.6.847
Baig AH, Swords FM, Szaszak M, King PJ, Hunyady L, Clark AJL(2002). Agonist activated adrenocorticotropin receptor internalizes via a clathrin-mediated G protein receptor kinase dependent mechanism. ENDOCRINE RESEARCH vol. 28, (4) 281-289.
10.1081/ERC-120016798
CLARK AJL, Savage MO, Johnston LB(2002). Genetic factors contributing to birth weight. Arch dis child (Fetal & Neonatal Ed.) vol. 86, (1) F2-F3.
10.1136/fn.86.1.f2-a
Clark AJL, Savage MO, JOHNSTON LB, de Ridder MAJ, van Duijn CM, Arends NJT, Hokken-Koelega ACS(2002). Linkage disequilibrium in the IGF-I gene in short children born small for gestational age (SGA). Journal of Clinical Endocrinology & Metabolism. vol. 87, (6)
CLARK AJL, Catt KJ, Hunyady L, Gaborik A, McPherson PS, Turu G, Szaszak M(2002). Role of the proline-rich domain of dynamin -2 and its interactions with Src homology 3 domains during endocytosis of the AT1 angiotensin receptor. J Biol Chem. vol. 277, (24) 21650-21656.
10.1074/jbc.M200778200
Baig AH, Swords FM, Noon LA, King PJ, Hunyady L, Clark AJL(2001). Desensitization of the Y1 cell adrenocorticotropin receptor - Evidence for a restricted heterologous mechanism implying a role for receptor-effector complexes. J BIOL CHEM vol. 276, (48) 44792-44797.
10.1074/jbc.M108572200
Metherell LA, Akker SA, Munroe PB, Rose SJ, Caulfield M, Savage MO, Chew SL, Clark AJ(2001). Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity. Am J Hum Genet vol. 69, (3) 641-646.
10.1086/323266
Clark AJ, Metherell L, Swords FM, Elias LL(2001). The molecular pathogenesis of ACTH insensitivity syndromes. Ann Endocrinol (Paris) vol. 62, (2) 207-211.
Newell-Price J, King P, Clark AJL(2001). The CpG island promoter of the human proopiomelanocortin gene is methylated in nonexpressing normal tissue and tumors and represses expression. MOL ENDOCRINOL vol. 15, (2) 338-348.
10.1210/me.15.2.338
Gaborik Z, Szaszak M, Szidonya L, Balla B, Paku S, Catt KJ, Clark AJL, Hunyady L (2001). beta-arrestin- and dynamin-dependent endocytosis of the AT(1) angiotensin receptor. MOLECULAR PHARMACOLOGY. vol. 59, 239-247.
10.1124/mol.59.2.239
CLARK AJL, Hunyady L, Catt KJ, Balla B, Paku S, Szidonya L, Gaborik Z, Szaszak M(2001). Beta-arrestin-and dynamin-dependent endocytosis of the AT1 angiotensin receptor. Mol Pharmacol. vol. 59, (2) 239-247.
Savage MO, Lebrethon MC, Blair JC, Ho JTF, Johnston LB, Lienhardt A, Clark AJL, Chaussain JL(2001). Growth abnormalities associated with adrenal disorders and their management. HORMONE RESEARCH vol. 56, 19-23.
10.1159/000048129
Savage MO, Burren CP, Blair JC, Woods KA, Metherell L, Clark AJL, Camacho-Hubner C (2001). Growth hormone insensitivity: Pathophysiology, diagnosis, clinical variation and future perspectives. HORMONE RESEARCH. vol. 55, 32-35.
10.1159/000063471
CAULFIELD MJ, Clark A, Stewart PM, Nikkila H, Li A, Mc Ternan C, Pratt JH, Agarwal AK et al.(2001). Possible association but no linkage of the HSD 11B2 gene encoding the kidney isozyme of 11 beta-hydroxsteroid dehydrogenase to hypertension in Black people. Clin Endocrinol (Oxf). vol. 55, (2) 249-252.
10.1046/j.1365-2265.2001.01314.x
Clark AJ, Metherell L, Swords FM, Elias LL(2001). The molecular pathogenesis of ACTH insensitivity syndromes. Annales d'endocrinologie vol. 62, (2) 207-211.
CLARK AJL, Handschug K, Huebner A, Hennig S, Yoon SJ, Sperling S(2001). Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet. vol. 10, (3) 283-290.
10.1093/hmg/10.3.283
Munroe P, Sandhu M, Jadhav D, Knight J, Clark A, Caulfield M(2000). No association of the epithelial sodium channel beta-subunit T594M variant with essential hypertension in an African Caribbean population. J HYPERTENS vol. 18, S178-S178.
Huebner A, Yoon SJK, Ozkinay F, Hilscher C, Lee H, Clark AJL, Handschug K (2000). Triple A syndrome - Clinical aspects and molecular genetics. ENDOCRINE RESEARCH. vol. 26, 751-759.
10.3109/07435800009048596
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