• SUN-LB43 DLK1 Expressing Cells Contribute to the Zonation of the Adrenal Gland 

  Mariniello, K; Rognoni, E; Guasti, L (2020-05-08)

• GHRH secretion from a pancreatic neuroendocrine tumor causing gigantism in a patient with MEN1. 

  Srirangam Nadhamuni, V; Iacovazzo, D; Evanson, J; Sahdev, A; Trouillas, J; McAndrew, L; R Kurzawinski, T; Bryant, D; Hussain, K; Bhattacharya, S (2021-06-01)

  Summary: A male patient with a germline mutation in MEN1 presented at the age of 18 with classical features of gigantism. Previously, he had undergone resection of an insulin-secreting pancreatic neuroendocrine tumour ...

• Distinct Fibroblast Lineages Give Rise to NG2+ Pericyte Populations in Mouse Skin Development and Repair. 

  Goss, G; Rognoni, E; Salameti, V; Watt, FM (Frontiers Media, 2021-05-28)

  We have examined the developmental origins of Ng2+ perivascular cell populations that adhere to the basement membrane of blood vessels, and their contribution to wound healing. Neural/glial antigen 2 (Ng2) labeled most ...

• Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes. 

  Andrews, A; Maharaj, A; Cottrell, E; Chatterjee, S; Shah, P; Denvir, L; Dumic, K; Bossowski, A; Mushtaq, T; Vukovic, R (Oxford University Press, 2021-06-16)

  CONTEXT AND OBJECTIVE: Growth hormone insensitivity (GHI) in children is characterized by short stature, functional IGF-I deficiency and normal or elevated serum GH concentrations. The clinical and genetic etiology of GHI ...

• Loss of Nnt Increases Expression of Oxidative Phosphorylation Complexes in C57BL/6J Hearts 

  Williams, JL; Hall, CL; Meimaridou, E; Metherell, LA (MDPI, 2021-06-05)

  Nicotinamide nucleotide transhydrogenase (NNT) is a proton pump in the inner mitochondrial membrane that generates reducing equivalents in the form of NAPDH, which can be used for anabolic pathways or to remove reactive ...

• Efficacy and safety of radiation therapy in advanced adrenocortical carcinoma (ACC) 

  Kimpel, O; Paul, S; Bülent, P; Megerle, F; Haak, HR; Pittaway, J; Quinkler, M; Matthias, K; Fassnacht, M (2021-05-15)

• 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)

• Mutation in SGPL1, Causing Sphingosine-1-Phosphate Lyase Deficiency, Leads to a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic Syndrome 

  Braslavsky, D; Barbagelata, E; Prasad, R; Cassinelli, H; Maharaj, A; Piantanida, JJ; Wainberg, E; Vallejo, G; Metherell, L; Bergada, I (2016)

• Genetic analysis of pediatric primary adrenal insufficiency of unknown etiology: 25 years’ experience in the UK 

  Buonocore, F; Maharaj, A; Qamar, Y; Koehler, K; Suntharalingham, JP; Chan, LF; Ferraz-de-Souza, B; Hughes, CR; Lin, L; Prasad, R (Oxford University Press, 2021-05-12)

  Context Although primary adrenal insufficiency (PAI) in children and young people is often due to congenital adrenal hyperplasia (CAH) or autoimmunity, other genetic causes occur. The relative prevalence of these conditions ...

• Sphingosine 1- Phosphate Lyase Insufficiency Syndrome (SPLIS); A Role in Multiple Endocrinopathies 

  Wai Kwong, RM; Maharaj, AV; Metherell, L; Prasad, R (2021-05-03)

• Somatic Mutations of GNA11 and GNAQ in CTNNB1-Mutant Aldosterone-Producing Adenomas Increases Aldosterone and Aldosterone Synthase (CYP11B2) 

  Azizan, EAB; Zhou, J; Cabrera, CP; Fernandes-Rosa, FL; Boulkroun, S; Argentesi, G; Cottrell, E; Amar, L; Wu, X; Marker, A (2021-05-03)

• Role of Genetic Analysis for the Differential Diagnosis of Delayed Puberty from the UK Puberty Cohort 

  Saengkaew, T; Dunkel, L; Howard, SR (2021-05-03)

• One Fourth of Adult Patients With Acromegaly Have Tall Stature With Similar Frequency in Males And Females 

  Bogusławska, A; Gilis-Januszewska, A; Magdid, K; Godlewska, M; Olszewska, M; Nowak, AJ; Starzyk, J; Korbonits, M; Hubalewska-Dydejczyk, A (Oxford University Press, 2021-05-03)

• In Vitro Splicing Assay Proves the Pathogenicity of Intronic Variants in MRAP 

  Smith, C; Maharaj, AV; Qamar, Y; Read, J; Williams, J; Chan, L; Marimuthu, V; Metherell, L (2021-05-03)

• CTNNB1-Mutant Aldosterone-Producing Adenomas With Somatic Mutations of GNA11/GNAQ Have Distinct Phenotype and Genotype 

  Zhou, J; Boulkroun, S; Cabrera, CP; Azizan, EAB; Fernandes-Rosa, F; Cottrell, E; Argentesi, G; Wu, X; O’Toole, S; Marker, A (Oxford University Press, 2021-05-03)

• Defects in the GnRH Neuronal Migration factor, CCDC141, Lead to Self-Limited Delayed Puberty 

  Saengkaew, T; Mancini, A; Ruiz-Babot, G; Cabrera, CP; Barnes, MR; Dunkel, L; Guasti, L; Howard, S (Oxford University Press, 2021-05-03)

• Serum inflammation-based scores in endocrine tumors. 

  Marques, P; de Vries, F; Dekkers, OM; Korbonits, M; Biermasz, NR; Pereira, AM (2021-04-10)

  CONTEXT: Serum inflammation-based scores reflect systemic inflammatory response and/or patients' nutritional status, and may predict clinical outcomes in cancer. While these are well-described and increasingly used in ...

• Invasive ACTH-Producing Pituitary Gland Neoplasm Secondary to MSH2 Mutation 

  Loughrey, PB; Baker, G; Herron, B; Cooke, S; Iacovazzo, D; Lindsay; Korbonits, M (Elsevier, 2021-04-04)

• Genetics of Acromegaly and Gigantism. 

  Bogusławska, A; Korbonits, M (MDPI, 2021-03-29)

  Growth hormone (GH)-secreting pituitary tumours represent the most genetically determined pituitary tumour type. This is true both for germline and somatic mutations. Germline mutations occur in several known genes (AIP, ...

• Structure reveals the activation mechanism of the MC4 receptor to initiate satiation signaling 

  Israeli, H; Degtjarik, O; Fierro, F; Chunilal, V; Gill, AK; Roth, NJ; Botta, J; Prabahar, V; Peleg, Y; Chan, LF

  Obesity is a global epidemic causing morbidity and impaired quality of life. The melanocortin receptor 4 (MC4R) is at the crux of appetite, energy homeostasis, and body-weight control in the central nervous system and is ...

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