Publications: Miss Charlotte Hall

Smith C, Abdullah M, Hassan S, Fauzi L, Qamar Y, Hall C, Maitra S, Maharaj A et al. ( 2023 ) . Genetic aetiology of primary adrenal insufficiency in Sudan . Endocrine Abstracts

Hall CL, Read JE, Salsbury G, Lim E, Akker S, Chapple P ( 2023 ) . SAT266 Transcriptional Changes Associated With Loss Of Function Of Fumarate Hydratase In A Cellular Model Of Pheochromocytoma . Journal of the Endocrine Society vol. 7 , ( Supplement_1 )

Mistry JN, Silvennoinen S, Zaman F, Sävendahl L, Mariniello K, Hall C, Howard SR, Dunkel L et al. ( 2023 ) . The crosstalk between FGF21 and GH leads to weakened GH receptor signaling and IGF1 expression and is associated with growth failure in very preterm infants . Frontiers in Endocrinology vol. 14 ,

Smith C, Abdullah M, Hassan S, Qamar Y, Hall C, Maitra S, Maharaj A, Mariela MRL et al. ( 2023 ) . Genetic Aetiology of Primary Adrenal Insufficiency in Sudan . Endocrine Abstracts

Smith CJ, Williams JL, Hall C, Casas J, Caley MP, O'Toole EA, Prasad R, Metherell LA ( 2023 ) . Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation . Journal of Lipid Research vol. 64 , ( 4 )

Williams JL, Smith C, Hall C, Khaled Z, Maharaj A, Kwong R, Pittaway J, Casas J et al. ( 2023 ) . Elevated sphingosine-1-phosphate lyase leads to increased metabolism and reduced survival in adrenocortical carcinoma . European Journal of Endocrinology vol. 188 , ( 1 )

Smith CJ, Williams JL, Hall C, Caley MP, O’Toole EA, Prasad R, Metherell LA ( 2022 ) . 181 Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions . Journal of Investigative Dermatology vol. 142 , ( 12 )

Romano LEL, Aw WY, Hixson KM, Novoselova TV, Havener TM, Howell S, Taylor-Blake B, Hall CL et al. ( 2022 ) . Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization . Cell Reports vol. 41 , ( 5 )

Chan L, Smith C, Read J, Hall C, Maharaj A, Ramirez LM, Qamar Y, Hughes C et al. ( 2022 ) . RF33 | PSAT69 A Combined Candidate Gene/Whole Exome Sequencing Approach Permits a Rapid Genetic Diagnosis for >81% Individuals with Primary Adrenal Insufficiency . Journal of the Endocrine Society vol. 6 , ( Supplement_2 ) a140 - a141 .

Maitra S, Smith C, Hall C, Read J, Maharaj AV, Mariela MRL, Qamar Y, Prasad R et al. ( 2022 ) . The lack of genotype: phenotype correlations in rare causes of primary adrenal insufficiency highlights the need for genetic testing . Endocrine Abstracts

Smith C, Williams J, Hall C, Caley M, O'Toole E, Prasad R, Metherell L ( 2022 ) . ESDR181 - Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions .

Smith C, Read J, Hall C, Maharaj A, Marroquin RL, Qamar Y, Hughes C, Clark A et al. ( 2022 ) . A rapid genetic diagnosis for >80% individuals with non-CAH Primary Adrenal Insufficiency is achievable by candidate gene sequencing combined with WES . Endocrine Abstracts

Williams J, Smith C, Hall C, Khaled Z, Maharaj A, Kwong R, Pittaway J, Casas J et al. ( 2022 ) . Elevated SGPL1 expression is associated with increased metabolic rate in cells and reduced survival in individuals with adrenocortical carcinoma . Endocrine Abstracts

Musa SA, Abdullah MA, Hassan SS, Qamar Y, Hall C, Maitra S, Maharaj AV, Ramirez LMM et al. ( 2022 ) . Clinical and Genetic characterization of primary adrenal insufficiency in Sudanese children . HORMONE RESEARCH IN PAEDIATRICS . vol. 95 , 114 - 115 .

Salsbury G, Read JE, Morales V, Hall CL, Lim ES, Akker SA, Bianchi K, Chapple P ( 2021 ) . Metabolomic analysis of succinate dehydrogenase subunit knockout in phaeochromocytoma and neuroblastoma cell lines . Endocrine Abstracts

Williams J, Smith C, Maharaj A, Kwong R, Hall C, Metherell L, Prasad R ( 2021 ) . SGPL1 regulates expression of electron transport chain components to modulate cellular metabolism in the adrenal gland . Endocrine Abstracts

Salsbury G, Hall C, Lim E, Read J, Akker S, Chapple P ( 2021 ) . Transcriptomic analysis of succinate dehydrogenase subunit deleted cells to identify molecular mechanisms underlying the increased metastatic potential of SDHB-deficient tumours . Endocrine Abstracts

Williams JL, Hall CL, Meimaridou E, Metherell LA ( 2021 ) . Loss of Nnt Increases Expression of Oxidative Phosphorylation Complexes in C57BL/6J Hearts . International Journal of Molecular Sciences vol. 22 , ( 11 )

Hall CL, Gurha P, Sabater-Molina M, Asimaki A, Futema M, Lovering RC, Suárez MP, Aguilera B et al. ( 2019 ) . RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy . International Journal of Cardiology vol. 302 , 124 - 130 .