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Research

Publications: Mr Jack Williams

Williams JL, Paudyal A, Stewart M, Cutillas P, Tinker A, Metherell L ( 2022 ) . Abstract P2005: Loss Of Full-length Mylk3 Causes Dilated Cardiomyopathy Via A MYL2-independent Mechanism . Circulation Research vol. 131 , ( Suppl_1 )
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 )
Williams J, paudyal A, Stewart M, Cutillas P, Cox RD, Tinker A, Metherell L ( 2021 ) . Abstract 14037: A Shorter Myosin Light Chain Kinase 3 Isoform Maintains Myosin Light Chain 2 Phosphorylation but Does Not Attenuate the Dilated Cardiomyopathy Seen in C57BL/6N Mice . Circulation vol. 144 , ( Suppl_1 ) a14037 - a14037 .
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 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 .
Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia Del Giudice E, Festa A, Palumbo S et al. ( 2021 ) . Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity . J Clin Endocrinol Metab
Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia Del Giudice E, Festa A, Palumbo S et al. ( 2021 ) . Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi) . J Clin Endocrinol Metab
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 )
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 .
Maharaj A, Williams J, Bradshaw T, Güran T, Braslavsky D, Casas J, Chan LF, Metherell LA et al. ( 2020 ) . Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction . J Steroid Biochem Mol Biol vol. 202 ,
Williams JL, Paudyal A, Awad S, Nicholson J, Grzesik D, Botta J, Meimaridou E, Maharaj AV et al. ( 2020 ) . Mylk3 null c57bl/6n mice develop cardiomyopathy, whereas nnt null c57bl/6j mice do not . Life Science Alliance vol. 3 , ( 4 )
Chatterjee S, Cottrell E, Rose SJ, Mushtaq T, Maharaj AV, Williams J, Savage MO, Metherell LA et al. ( 2020 ) . GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients . Endocrine Connections vol. 9 , ( 3 ) 211 - 222 .
Maharaj A, Williams J, Guran T, Braslavsky D, Casas J, Metherell L, Prasad R ( 2019 ) . SGPL1 deficiency leads to accumulation of sphingolipid species and downregulation of key enzymes within the steroidogenic pathway . Endocrine Abstracts
Broadberry E, McConnell J, Williams J, Yang N, Zindy E, Leek A, Waddington R, Joseph L et al. ( 2018 ) . Disrupted circadian clocks and altered tissue mechanics in primary human breast tumours . Breast Cancer Research vol. 20 , ( 1 )
Chatterjee S, Rose SJ, Mushtaq T, Cottrell E, Maharaj AV, Williams J, Savage MO, Metherell LA et al. ( 2018 ) . Genotype-phenotype correlation in patients with homozygous GHR pseudoexon (6Ψ) mutation . Endocrine Abstracts
Prasad R, Maharaj A, Bradshaw T, Williams J, Guran T, Braslavsky D, Brugger B, Metherell L ( 2018 ) . Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction . Endocrine Abstracts
Maharaj A, Bradshaw T, Williams J, Guran T, Braslavsky D, Bruegger B, Metherell L, Prasad R ( 2018 ) . Sphingosine-1-Phosphate Lyase (SGPL1) Deficiency Is Associated with Mitochondrial Dysfunction . HORMONE RESEARCH IN PAEDIATRICS . Conference: 57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) ( Athens, Greece ) from: 27/09/2018 to: 29/09/2018 , vol. 90 , 78 - 78 .
Wood AM, Sun H, Williams J, Brennan KR, Gilmore AP, Streuli CH ( 2018 ) . Three-dimensional breast culture models: New culture models for analyzing breast development and function. New culture models for analyzing breast development and function . Organoids and Mini-Organs ,
Williams J, Yang N, Wood A, Zindy E, Meng QJ, Streuli CH ( 2018 ) . Epithelial and stromal circadian clocks are inversely regulated by their mechano-matrix environment . Journal of Cell Science vol. 131 , ( 5 )
Wood AM, Sun H, Williams J, Brennan KR, Gilmore AP, Streuli CH ( 2018 ) . Three-dimensional breast culture models . Organoids and Mini-Organs ,
Dudek M, Yang N, Ruckshanthi JPD, Williams J, Borysiewicz E, Wang P, Adamson A, Li J et al. ( 2017 ) . The intervertebral disc contains intrinsic circadian clocks that are regulated by age and cytokines and linked to degeneration . Annals of the Rheumatic Diseases vol. 76 , ( 3 ) 576 - 584 .
Yang N, Williams J, Pekovic-Vaughan V, Wang P, Olabi S, McConnell J, Gossan N, Hughes A et al. ( 2017 ) . Cellular mechano-environment regulates the mammary circadian clock . Nature Communications vol. 8 ,
Blakeman V, Williams JL, Meng QJ, Streuli CH ( 2016 ) . Circadian clocks and breast cancer . Breast Cancer Research vol. 18 , ( 1 )
Guo B, Yang N, Borysiewicz E, Dudek M, Williams JL, Li J, Maywood ES, Adamson A et al. ( 2015 ) . Catabolic cytokines disrupt the circadian clock and the expression of clock-controlled genes in cartilage via an NFkB-dependent pathway . Osteoarthritis and Cartilage vol. 23 , ( 11 ) 1981 - 1988 .