Publications: Ms Louise Metherell
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.
54
,
(
6
)
788
-
795
.
Patjamontri S, Lucas-Herald AK, McMillan M, Prasad R, Metherell LA, McGowan R, Tobias ES, Ahmed SF
(
2024
)
.
Thioredoxin Reductase 2 Variant as a Cause of Micropenis, Undescended Testis, and Selective Glucocorticoid Deficiency
.
Hormone Research in Paediatrics
.
vol.
97
,
1
-
6
.
Smith C, Al-Salihi A, Janecke A, Steichen E, Banka S, Jackson A, Darby D, Griffin L et al.
(
2023
)
.
Adrenal insufficiency can be associated with biallelic mutations in porphyria genes
.
Endocrine Abstracts
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
Smith C, Jackson A, Al-Salihi A, Janecke A, Steichen E, Darby D, Griffin L, Banka S et al.
(
2023
)
.
SAT292 Adrenal Insufficiency Associated With Biallelic Mutations In Porphyria Genes
.
Journal of the Endocrine Society
vol.
7
,
(
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
)
Williams J, Stewart M, Tinker A, Cutillas P, Metherell L
(
2023
)
.
BS18 Loss of full-length MYLK3 causes dilated cardiomyopathy via a MYL2-independent mechanism
.
Conference:
Basic Sciencea258
-
a259
.
Smith C, Jackson A, Al-Salihi A, Janecke A, Steichen E, Darby D, Griffin L, Banka S et al.
(
2023
)
.
Adrenal Insufficiency Associated with Biallelic Mutations in Porphyria Genes
.
Endocrine Abstracts
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
)
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
)
Corkery-Hayward M, Metherell LA
(
2023
)
.
Adrenal Dysfunction in Mitochondrial Diseases
.
International Journal of Molecular Sciences
vol.
24
,
(
2
)
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
)
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
.
Cottrell E, Andrews A, Williams J, Chatterjee S, Edate S, Metherell LA, Hwa V, Storr HL
.
A rare heterozygous IGFI variant impairing IGF-I cleavage and causing postnatal growth failure: a novel disease mechanism offering insights into IGF-I physiology
.
Endocrine Abstracts
.
Cottrell E, Maharaj A, Triggs-Raine B, Thanasupawat T, Williams J, Fujimoto M, A. VDH, De BC et al.
.
Characterisation of the first heterozygous missense HMGA2 variant helps delineate the crucial functional roles of a novel growth gene
.
Endocrine Abstracts
.
Ming WKR, Williams J, Maharaj AV, Metherell L, Prasad R
(
2022
)
.
SGPL1 deficiency impairs Leydig cell steroidogenesis and should be considered in 46XY individuals with DSD and adrenal insufficiency
.
Endocrine Abstracts
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
Maharaj A, Cottrell E, van DH, de BC, Joustra S, Kant S, van DKD, Inmaculada CDCLM et al.
(
2022
)
.
Understanding the molecular basis of short stature in six patients with pathogenic variants in HMGA2
.
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
.
A A, A M, E C, S C, P S, L D, K D, A B et al.
(
2022
)
.
Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes
.
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
)
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
Ali N, Maharaj AV, Buonocore F, Achermann JC, Metherell LA
(
2022
)
.
Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report
.
Frontiers in Endocrinology
vol.
13
,
Maharaj A, Güran T, Buonocore F, Achermann JC, Metherell L, Prasad R, Çetinkaya S
(
2022
)
.
Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency
.
Journal of the Endocrine Society
vol.
6
,
(
5
)
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
.
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
.
Farooqi N, Metherell LA, Schrauwen I, Acharya A, Khan Q, Nouel Saied LM, Ali Y, El-Serehy HA et al.
(
2021
)
.
Exome sequencing identifies a novel fbn1 variant in a pakistani family with marfan syndrome that includes left ventricle diastolic dysfunction
.
Genes
vol.
12
,
(
12
)
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
.
Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, del GEM, Festa A, Palumbo S et al.
(
2021
)
.
Growth hormone receptor 6Ω pseudoexon activation: a novel cause of severe growth hormone insensitivity
.
Endocrine Abstracts
Andrews A, Cottrell E, Maharaj A, Ladha T, Williams J, Metherell LA, McCormick PJ, Storr HL
.
Novel dominant negative GH receptor variants provide important insights into GH receptor physiology
.
Endocrine Abstracts
.
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
.
Maudhoo A, Maharaj A, Buonocore F, Martos-Moreno GA, Argente J, Achermann JC, Chan LF, Metherell LA
(
2021
)
.
Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency
.
Endocrinology Diabetes and Metabolism Case Reports
vol.
2021
,
21
-
0128
.
Zhou J, Azizan EAB, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Argentesi G, Cottrell E, Amar L et al.
(
2021
)
.
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause
.
Nature Genetics
Argentesi G, Azizan E, Zhou J, Cabrera C, O’Toole S, Wu X, Goodchild E, Cottrell E et al.
(
2021
)
.
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause
.
Nature Genetics
Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-De-Souza B, Hughes CR et al.
(
2021
)
.
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK
.
Journal of the Endocrine Society
vol.
5
,
(
8
)
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
Andrews A, Maharaj A, Cottrell E, Chatterjee S, Shah P, Denvir L, Dumic K, Bossowski A et al.
(
2021
)
.
Genetic Characterization of Short Stature Patients with Overlapping Features of Growth Hormone Insensitivity Syndromes
.
Journal of Clinical Endocrinology and Metabolism
vol.
106
,
(
11
)
E4716
-
E4733
.
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
)
Zhou J, Boulkroun S, Cabrera CP, Azizan EAB, Fernandes-Rosa F, Cottrell E, Argentesi G, Wu X et al.
(
2021
)
.
CTNNB1-Mutant Aldosterone-Producing Adenomas With Somatic Mutations of GNA11/GNAQ Have Distinct Phenotype and Genotype
.
Journal of the Endocrine Society
vol.
5
,
(
Suppl 1
)
a65
-
a66
.
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
.
Azizan EAB, Zhou J, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Argentesi G, Cottrell E, Amar L et al.
(
2021
)
.
Somatic Mutations of GNA11 and GNAQ in CTNNB1-Mutant Aldosterone-Producing Adenomas Increases Aldosterone and Aldosterone Synthase (CYP11B2)
.
Journal of the Endocrine Society
vol.
5
,
(
Supplement_1
)
a72
-
a72
.
Kwong RMW, Maharaj AV, Metherell L, Prasad R
(
2021
)
.
Sphingosine 1- Phosphate Lyase Insufficiency Syndrome (SPLIS); A Role in Multiple Endocrinopathies
.
Journal of the Endocrine Society
vol.
5
,
(
Suppl 1
)
a662
-
a662
.
Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-de-Souza B, Hughes CR et al.
(
2021
)
.
Genetic analysis of paediatric primary adrenal insufficiency of unknown aetiology over 25 years
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
94
,
187
-
188
.
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
.
Chatterjee S, Bertola DR, Agwu C, Maharaj A, Williams J, Cottrell E, Shapiro L, Andrews A et al.
(
2021
)
.
Novel <i>LZTR1</i> mutations in subjects with features of Noonan Syndrome and GH insensitivity negatively regulate GH-induced IGF-I production and hyperactivate GH-induced ERK1/2 activation in response to GH <i>in</i> <i>vitro</i>
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
94
,
322
-
323
.
Kwong R, Maharaj A, Metherell L, Prasad R
(
2021
)
.
Sphingosine 1-phosphate lyase insufficiency syndrome (SPLIS) as a cause of primary adrenal insufficiency and primary hypogonadism
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
94
,
108
-
108
.
Cottrell E, Cabrera CP, Ishida M, Chatterjee S, Greening J, Wright N, Bossowski A, Dunkel L et al.
(
2020
)
.
Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity
.
European Journal of Endocrinology
vol.
183
,
(
6
)
581
-
595
.
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
,
Maharaj A, Theodorou D, Banerjee I, Metherell LA, Prasad R, Wallace D
(
2020
)
.
A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy
.
Frontiers in Pediatrics
vol.
8
,
Zhou J, Cabrera CP, Azizan EAB, Fernandes-Rosa F, Cottrell E, Amar L, Argentesi G, Wu X et al.
(
2020
)
.
SAT-224 Recurrent Co-Driver Mutation in CTNNB1-Mutant Aldosterone-producing Adenomas (APA), Causing Reversible Hypertension in Puberty, Pregnancy or Menopause
.
Journal of the Endocrine Society
vol.
4
,
(
Suppl 1
)
A624
-
A624
.
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
)
Kallali W, Gray E, Mehdi MZ, Lindsay R, Metherell LA, Buonocore F, Suntharalingham JP, Achermann JC et al.
(
2020
)
.
Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: The importance of early diagnosis
.
European Journal of Endocrinology
vol.
182
,
(
3
)
K15
-
K24
.
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
.
Chatterjee S, Bertola D, Agwu C, Karantza M, Cottrell E, Shapiro L, Maharaj AV, Williams J et al.
(
2019
)
.
Novel variants in the Leucine-zipper-like transcription regulator 1 (LZTR1) gene cause Noonan syndrome phenotype by upregulation of the RAS-MAPKinase pathway
.
Endocrine Abstracts
Qamar Y, Maharaj A, Chan L, AbdulBagi S, Abdullah M, Metherell L
(
2019
)
.
Rare causes of primary adrenal insufficiency (PAI) in children from Sudan
.
Endocrine Abstracts
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
Cottrell E, Maharaj A, Ladha T, Chatterjee S, Grandone A, Cirillo G, del GEM, Kostalova L et al.
(
2019
)
.
Three novel Growth Hormone Receptor (GHR) splicing mutations causing a spectrum of Growth Hormone Insensitivity
.
Endocrine Abstracts
Qamar Y, Maharaj A, Chan L, Deeb A, Metherell L
(
2019
)
.
Splice-site mutations in the melanocortin-2 receptor accessory protein that lead to early-onset familial glucocorticoid deficiency type 2
.
Endocrine Abstracts
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
SR H, R O, A P, V C, A F, G R-B, LA M, CP C et al.
(
2019
)
.
HS6ST1 insufficiency causes self-limited delayed puberty in contrast with other GnRH deficiency genes
.
Maharaj A, Meimaridou E, Williams J, Guran T, Braslavsky D, Metherell L, Prasad R
(
2019
)
.
SGPL1 deficiency leads to downregulation of key enzymes within the steroidogenic pathway
.
HORMONE RESEARCH IN PAEDIATRICS
.
Conference:
The 58th Annual ESPE Meeting
vol.
91
,
61
-
61
.
Novoselova TV, King PJ, Guasti L, Metherell LA, Clark AJL, Chan LF
(
2019
)
.
ACTH signalling and adrenal development: lessons from mouse models
.
Endocrine Connections
vol.
-1
,
(
aop
)
r122
-
r130
.
Maharaj A, Maudhoo A, Chan LF, Novoselova T, Prasad R, Metherell LA, Guasti L
(
2019
)
.
Isolated glucocorticoid deficiency: Genetic causes and animal models
.
Journal of Steroid Biochemistry and Molecular Biology
vol.
189
,
73
-
80
.
Chatterjee S, Rose SJ, Mushtaq T, Cottrell E, Maharaj AV, Williams J, Savage MO, Metherell LA et al.
(
2019
)
.
<i>GHR</i> transcript heterogeneity may explain the phenotypic variability in patients with homozygous <i>GHR</i> pseudoexon (6Ψ) mutation
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
91
,
111
-
111
.
Kallali W, Gray E, Mehdi MZ, Lindsay R, Metherell L, Buonocore F, Achermann J, Donaldson M
(
2019
)
.
CYP11A1 (side-chain cleavage enzyme) defect in three brothers causing glucocorticoid and mineralocorticoid deficiency and development of testicular adrenal rest testicular tumour
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
91
,
360
-
360
.
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
.
Settas N, Persky R, Faucz FR, Sheanon N, Voutetakis A, Lodish M, Metherell LA, Stratakis CA
(
2018
)
.
SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency
.
The Journal of Clinical Endocrinology & Metabolism
vol.
104
,
(
5
)
1484
-
1490
.
Maudhoo A, Maharaj A, Buonocore F, Martos-Moreno GA, Argente J, Achermann J, Chan L, Metherell L
(
2018
)
.
Missplicing due to a silent exonic substitution in the T-box transcription factor TBX19 resulting in Isolated ACTH deficiency
.
Endocrine Abstracts
Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng H-M, Capper CP, Burgos-Tirado N et al.
(
2018
)
.
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing
.
Journal of the Endocrine Society
vol.
3
,
(
1
)
201
-
221
.
Cottrell E, Maharaj A, Chatterjee S, Grandone A, Cirillo G, Miraglia DGE, Metherell LA, Storr HL
(
2018
)
.
A novel GHR pseudoexon mutation causing frameshift and severe postnatal growth failure
.
Endocrine Abstracts
Costa ARD, Qarin S, Bradshaw T, Watson D, Prasad R, Metherell LA, Barnes MR, Skarnes W et al.
(
2018
)
.
Can novel stem cell models help unpick the pathogenesis of the Triple A syndrome?
.
Endocrine Abstracts
Chatterjee S, Rose SJ, Mushtaq T, Cottrell E, Maharaj AV, Williams J, Savage MO, Metherell LA et al.
(
2018
)
.
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Patients with short stature and GH/IGF-1 insensitivity harbour copy number variants causing a Silver-Russell-like phenotype
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Prasad R, Maharaj A, Bradshaw T, Williams J, Guran T, Braslavsky D, Brugger B, Metherell L
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Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction
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Storr HL, Chatterjee S, Metherell LA, Foley C, Rosenfeld RG, Backeljauw PF, Dauber A, Savage MO et al.
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A Novel Stem Cell Model for the Triple a Syndrome
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A Second Growth Hormone Receptor Pseudoexon Mutation Causing Frameshift and Severe Postnatal Growth Failure
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Novel evidence implies that ALADIN, the triple A syndrome gene product is involved in mitochondrial physiology
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Mutations in SGPL1, encoding sphingosine-1-phosphate lyase, cause a novel form of primary adrenal insufficiency with steroid resistant nephrotic syndrome
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Stressed to death - antioxidant pathway targeting as a novel therapeutic approach in adrenocortical carcinoma
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Dominant negative STAT5B variants in two families with mild GH insensitivity and eczema
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Endocrine Abstracts
Shapiro L, Savage M, Metherell L, Storr H
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Genetic characterisation of children with short stature and GH or IGF1 insensitivity by single gene and whole exome sequencing
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Howard S, Poliandre A, Storr HL, Metherell LA, Cabrera C, Warren H, Barnes M, Wehkalampi K et al.
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Mutations in HS6ST1 cause self-limited delayed puberty (DP) in addition to idiopathic hypogonadotropic hypogonadism (IHH)
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Endocrine Abstracts
Howard S, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell L, Cabrera C et al.
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Mutations in IGSF10 cause self-limited delayed puberty
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Endocrine Abstracts
Buonocore F, Chan L, Achermann J, Metherell L
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Molecular diagnosis of patients with adrenal insufficiency using a targeted custom Haloplex next-generation sequencing panel
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Endocrine Abstracts
Howard S, Poliandri A, Storr H, Metherell L, Cabrera C, Barnes M, Warren H, Wehkalampi K et al.
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Mutations in HS6ST1 are causal in self-limited delayed puberty as well as idiopathic hypogonadotropic hypogonadism
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Endocrine Abstracts
Howard S, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell L, Sternberg M et al.
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Mutations in IGSF10 cause self-limited delayed puberty, via disturbance of GnRH neuronal migration
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Endocrine Abstracts
Chortis V, Taylor A, Doig C, Meimaridou E, Metherell L, Arlt W, Foster P
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2015
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Nicotinamide nucleotide transhydrogenase (NNT) as a novel molecular target in adrenocortical carcinoma - impact of NNT knockdown on adrenocortical cell proliferation, redox balance and steroidogenesis
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Endocrine Abstracts
Meimaridou E, Goldsworthy M, Chortis V, Foster P, Arlt W, Cox R, Metherell L
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RNA-sequencing of mouse adrenals reveals the pathways perturbed by loss of nicotinamide nucleotide transhydrogenase
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Endocrine Abstracts
Chan LF, Campbell DC, Novoselova TV, Clark AJL, Metherell LA
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Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children
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Frontiers in Endocrinology
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Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation
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JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
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Encyclopedia of Life Sciences
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Pease-Gevers E, Kowalczyk J, Storr H, Metherell L, Dattani M
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A heterozygous STAT5B variant in a family with short stature and transient hyperprolactinaemia: a possible dominant negative effect
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Endocrine Abstracts
Novoselova T, Spoudeas H, Huebner A, Cheetham T, Chan L, Metherell L
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Varied clinical presentations of six patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc
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Endocrine Abstracts
Chan L, Novoselova T, Rath S, Carpenter K, Pachter N, Price G, Dickinson J, Choong C et al.
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cDNA analysis reveals NNT pseudoexon activation in two siblings with familial glucocorticoid deficiency
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Prasad R, Chan LF, Hughes CR, Kaski JP, Kowalczyk JC, Savage MO, Peters CJ, Nathwani N et al.
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Oxidative stress and adrenocortical insufficiency
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Mitochondrial thiol systems are important players in antioxidant defence for the human adrenal cortex
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Endocrine Abstracts
Högler W, Martin DD, Crabtree N, Nightingale P, Tomlinson J, Metherell L, Rosenfeld R, Hwa V et al.
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IGFALS gene dosage effects on serum IGF-I and glucose metabolism, body composition, bone growth in length and width, and the pharmacokinetics of recombinant human IGF-I administration
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A novel gene affecting the timing of puberty
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Endocrine Abstracts
Poukoulidou T, Kowalczyk J, Metherell L, De Schepper J, Maes M
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A Novel Homozygous Mutation of the IGFALS Gene in a Female Adolescent: Indirect Evidence for a Contributing Role of the Circulating IGF-I Pool in the Pubertal Growth Spurt
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PP43 Genome sequencing reveals mitochondrial thiol systems are essential for antioxidant defence in human adrenal glands
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A mutation in thioredoxin reductase 2 (TXNRD2) is associated with a predominantly adrenal phenotype in humans
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Howard S, Barnes M, Storr H, Wehkalampi K, Metherell L, Dunkel L
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Familial constitutional delay in growth and puberty is a condition with significant genetic heterogeneity and limited overlap with the timing of puberty in the general population
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