Publications: Dr Christopher Smith

Perna L, Salsbury G, Dushti M, Smith CJ, Morales V, Bianchi K, Czibik G, Chapple JP ( 2024 ) . Altered Cellular Metabolism Is a Consequence of Loss of the Ataxia-Linked Protein Sacsin . International Journal of Molecular Sciences vol. 25 , ( 24 )

Smith CJ, Abdullah MA, Hassan SS, Fauzi LS, Qamar Y, Hall CL, Maitra S, Maharaj AV et al. ( 2024 ) . 8482 Genetic Aetiology Of Primary Adrenal Insufficiency In Sudan . Journal of the Endocrine Society vol. 8 , ( Supplement_1 )

Williams JL, Smith CJ, Mastroianni G, Stewart M, Cutillas P, Tinker A, Metherell L ( 2023 ) . Abstract P2043: Loss Of Full-length Mylk3 Causes Dilated Cardiomyopathy Via A Myl2-independent Mechanism . Circulation Research vol. 133 , ( Suppl_1 )

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, Chan L, Metherell LA ( 2023 ) . 769 Reduced expression of PPOX, the variegate porphyria gene, causes intrinsic pathological changes to keratinocytes . Journal of Investigative Dermatology vol. 143 , ( 5 )

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, Chan L, Metherell LA ( 2023 ) . Reduced expression of PPOX, the variegate porphyria gene, causes intrinsic pathological changes to keratinocytes . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 143 , S132 - S132 .

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 )

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 CJ, Parkinson EK, Yang J, Pratten J, O'Toole EA, Caley MP, Braun KM ( 2022 ) . Investigating wound healing characteristics of gingival and skin keratinocytes in organotypic cultures . Journal of Dentistry vol. 125 ,

Maharaj A, Kwong R, Williams J, Smith C, Storr H, Krone R, Braslavsky D, Clemente M et al. ( 2022 ) . A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review . Endocrine Connections vol. 11 , ( 8 )

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

Smith CJ, Williams JL, Hall C, Caley MP, O'Toole EA, Prasad R, Metherell LA ( 2022 ) . Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 142 , S211 - S211 .

Smith C, Maharaj A, Qamar Y, Read J, Williams J, Marimuthu V, Chan L, Metherell L ( 2021 ) . In vitro splicing assay proves the pathogenicity of intronic variants in MRAP . 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

Smith CJ, Williams JL, Caley MP, O’Toole EA, Prasad R, Metherell LA ( 2021 ) . 099 Ichthyosis associated with sphingosine 1-phosphate lyase deficiency is due to aberrant calcium and sphingolipid regulation . Journal of Investigative Dermatology vol. 141 , ( 10 ) s165 - s165 .

Smith C, Maharaj AV, Qamar Y, Read J, Williams J, Chan L, Marimuthu V, Metherell L ( 2021 ) . In Vitro Splicing Assay Proves the Pathogenicity of Intronic Variants in MRAP . Journal of the Endocrine Society vol. 5 , ( Suppl 1 ) a85 - a86 .

Smith CJ, Williams JL, Caley MP, O'Toole EA, Prasad R, Metherell LA ( 2021 ) . Ichthyosis associated with sphingosine 1-phosphate lyase deficiency is due to aberrant calcium and sphingolipid regulation . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 141 , S165 - S165 .

Smith C, Maharaj A, Prasad R, Hughes C, Qamar Y, Clark A, Chan L, Metherell L ( 2019 ) . Twenty-five years of familial glucocorticoid deficiency: genotypic and phenotypic variability . Endocrine Abstracts

Smith CJ, Maharaj AV, Prasad R, Hughes CR, Clark AJL, Chan LF, Metherell LA ( 2019 ) . Genetics of Familial Glucocorticoid Deficiency over the Decades: Phenotypic Variability and Associated Features . HORMONE RESEARCH IN PAEDIATRICS . vol. 91 , 108 - 109 .

Smith CJ, Caley M, Parkinson EK, O'Toole EA, Pratten J, Yang J ( 2018 ) . INVESTIGATING THE DIFFERENCES IN THE WOUND HEALING RESPONSES OF SKIN AND GINGIVAL KERATINOCYTES . WOUND REPAIR AND REGENERATION . vol. 26 , A30 - A31 .

Smith CJ, Caley M, Parkinson EK, O'Toole EA, Pratten J, Yang J, Braun KM ( 2018 ) . Investigating the differences in the wound healing responses of skin and gingival keratinocytes . BRITISH JOURNAL OF DERMATOLOGY . vol. 178 , E416 - E416 .