Louise A Metherell
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Explore the profile of Louise A Metherell including associated specialties, affiliations and a list of published articles.
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60
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1380
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Recent Articles
1.
Loughrey P, Mothojakan N, Iacovazzo D, Arni A, Aflorei E, Arnaldi G, et al.
Eur J Endocrinol
. 2025 Mar;
PMID: 40070360
Objective: Heterozygous germline loss-of-function variants in AIP are associated with young-onset growth hormone and/or prolactin-secreting pituitary tumours. However, the pathogenic role of the c.911G>A; p.(Arg304Gln) (R304Q) AIP variant has been...
2.
Musa S, Abdullah M, Hassan S, Fauzi L, Babiker O, Ahmed A, et al.
Eur J Endocrinol
. 2025 Mar;
PMID: 40063902
Background: Studies of Primary Adrenal Insufficiency (PAI) in African children are rare but in Sudan, congenital adrenal hyperplasia (CAH) and Triple A syndrome are the most common genetic causes. Differential...
3.
Patjamontri S, Lucas-Herald A, McMillan M, Prasad R, Metherell L, McGowan R, et al.
Horm Res Paediatr
. 2023 Nov;
97(5):509-514.
PMID: 38011841
Introduction: Variants in genes that play a role in maintaining cellular redox homeostasis in adrenocortical cells may be associated with glucocorticoid deficiency, and it is unclear whether these cases may...
4.
Andrews A, Cottrell E, Maharaj A, Ladha T, Williams J, Schilbach K, et al.
Eur J Endocrinol
. 2023 Mar;
188(4):353-365.
PMID: 36943306
Objective: Growth hormone insensitivity (GHI) encompasses growth restriction, normal/elevated growth hormone (GH), and low insulin-like growth factor I (IGF1). "Nonclassical" GHI is poorly characterized and is rarely caused by heterozygous...
5.
Smith C, Williams J, Hall C, Casas J, Caley M, OToole E, et al.
J Lipid Res
. 2023 Mar;
64(4):100351.
PMID: 36868360
Sphingosine 1-phosphate lyase (SGPL1) insufficiency (SPLIS) is a syndrome which presents with adrenal insufficiency, steroid-resistant nephrotic syndrome, hypothyroidism, neurological disease, and ichthyosis. Where a skin phenotype is reported, 94% had...
6.
Corkery-Hayward M, Metherell L
Int J Mol Sci
. 2023 Jan;
24(2).
PMID: 36674647
Cortisol is central to several homeostatic mechanisms including the stress and immune response. Adrenal insufficiency and impaired cortisol production leads to severe, potentially fatal disorders. Several fundamental stages of steroidogenesis...
7.
Ali N, Maharaj A, Buonocore F, Achermann J, Metherell L
Front Endocrinol (Lausanne)
. 2022 Apr;
13:860055.
PMID: 35418949
An eight-year old South Asian boy presenting with progressive hyperpigmentation was found to have primary adrenal insufficiency (PAI) in the form of isolated glucocorticoid deficiency. Follow up of this boy...
8.
Farooqi N, Metherell L, Schrauwen I, Acharya A, Khan Q, Nouel Saied L, et al.
Genes (Basel)
. 2021 Dec;
12(12).
PMID: 34946863
Introduction: Cardiomyopathies are diseases of the heart muscle and are important causes of heart failure. Dilated cardiomyopathy (DCM) is a common form of cardiomyopathy that can be acquired, syndromic or...
9.
Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Del Giudice E, et al.
J Clin Endocrinol Metab
. 2021 Aug;
PMID: 34453441
Context: Severe forms of growth hormone insensitivity (GHI) are characterized by extreme short stature, dysmorphism, and metabolic anomalies. Objective: This work aims to identify the genetic cause of growth failure...
10.
Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Del Giudice E, et al.
J Clin Endocrinol Metab
. 2021 Jul;
PMID: 34318893
Context: Severe forms of Growth Hormone Insensitivity (GHI) are characterized by extreme short stature, dysmorphism and metabolic anomalies. Objective: Identification of the genetic cause of growth failure in 3 'classical'...