Publications: Mr Jack Williams
Kidd E, Meimaridou E, Williams J, Metherell LA, Walley AJ, Fairbrother UL
(
2023
)
.
Choice of gDNA isolation method has a significant impact on average murine Telomere Length estimates
.
Preparative Biochemistry & Biotechnology
vol.
ahead-of-print
,
(
ahead-of-print
)
1
-
8
.
Andrews A, Cottrell E, Maharaj A, Ladha T, Williams J, Schilbach K, Kaisinger LR, Perry JRB et al.
(
2023
)
.
Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature
.
European Journal of Endocrinology
vol.
188
,
(
4
)
353
-
365
.
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
)
67
-
77
.
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
)
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
)
ap2005
-
ap2005
.
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
.
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
.
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
.
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
.
The Journal of Steroid Biochemistry and Molecular Biology
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.
-1
,
(
aop
)
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
,
Wood AM, Sun H, Williams J, Brennan KR, Gilmore AP, Streuli CH
(
2018
)
.
Chapter 4 Three-dimensional breast culture models New culture models for analyzing breast development and function
.
Organs and Organoids
,
Elsevier
Williams J, Yang N, Wood A, Zindy E, Meng Q-J, Streuli CH
(
2018
)
.
Epithelial and stromal circadian clocks are inversely regulated by their mechano-matrix environment
.
Journal of Cell Science
vol.
131
,
(
5
)
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
,
(
1
)
Blakeman V, Williams JL, Meng Q-J, Streuli CH
(
2016
)
.
Circadian clocks and breast cancer
.
Breast Cancer Research
vol.
18
,
(
1
)
Dudek M, Yang N, Ruckshanthi JP, Williams J, Borysiewicz E, Wang P, Adamson A, Li J et al.
(
2016
)
.
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
)
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 NFкB-dependent pathway
.
Osteoarthritis and Cartilage
vol.
23
,
(
11
)
1981
-
1988
.