Publications by authors named "Louise Metherell"

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Reduced PPOX Expression Causes Intrinsic Pathogenicity in Keratinocytes, Contributing to the Cutaneous Variegate Porphyria Phenotype.
Christopher J Smith, Ahmed Al-Salihi, Jack L Williams, Li Chan, Louise A Metherell

J Invest Dermatol· September 2025

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Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency.
Salwa A Musa, Mohamed A Abdullah, Samar S Hassan, Luqman S Fauzi, Omer O Babiker, Louise A Metherell

Eur J Endocrinol· March 2025

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Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.
Paul Benjamin Loughrey, Nadira B Mothojakan, Donato Iacovazzo, Ankit Arni, Elena D Aflorei, Louise A Metherell

Eur J Endocrinol· March 2025

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Thioredoxin Reductase 2 Variant as a Cause of Micropenis, Undescended Testis, and Selective Glucocorticoid Deficiency.
Supitcha Patjamontri, Angela K Lucas-Herald, Martin McMillan, Rathi Prasad, Louise A Metherell

Horm Res Paediatr· October 2024

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Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation.
Christopher J Smith, Jack L Williams, Charlotte Hall, Josefina Casas, Matthew P Caley, Louise A Metherell

J Lipid Res· April 2023

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Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature.
Afiya Andrews, Emily Cottrell, Avinaash Maharaj, Tasneem Ladha, Jack Williams, Louise A Metherell

Eur J Endocrinol· April 2023

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Adrenal Dysfunction in Mitochondrial Diseases.
Madeleine Corkery-Hayward, Louise A Metherell

Int J Mol Sci· January 2023

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A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review.
Avinaash Maharaj, Ruth Kwong, Jack Williams, Christopher Smith, Helen Storr, Louise Metherell

Endocr Connect· August 2022

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Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency.
Avinaash Maharaj, Tülay Güran, Federica Buonocore, John C Achermann, Louise Metherell

J Endocr Soc· May 2022

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Can Digenic, Tri-Allelic Inheritance of Variants in and Give Rise to Primary Adrenal Insufficiency? A Case Report.
Naseer Ali, Avinaash Vickram Maharaj, Federica Buonocore, John C Achermann, Louise A Metherell

Front Endocrinol (Lausanne)· April 2022

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Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction.
Nadia Farooqi, Louise A Metherell, Isabelle Schrauwen, Anushree Acharya, Qayum Khan

Genes (Basel)· November 2021

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Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
Afiya Andrews, Avinaash Maharaj, Emily Cottrell, Sumana Chatterjee, Pratik Shah, Louise A Metherell

J Clin Endocrinol Metab· October 2021

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Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
Federica Buonocore, Avinaash Maharaj, Younus Qamar, Katrin Koehler, Jenifer P Suntharalingham, Louise A Metherell

J Endocr Soc· August 2021

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Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi).
Emily Cottrell, Avinaash Maharaj, Jack Williams, Sumana Chatterjee, Grazia Cirillo, Louise A Metherell

J Clin Endocrinol Metab· July 2021

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Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity.
Emily Cottrell, Avinaash Maharaj, Jack Williams, Sumana Chatterjee, Grazia Cirillo, Louise A Metherell

J Clin Endocrinol Metab· July 2021

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Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.
Emily Cottrell, Claudia P Cabrera, Miho Ishida, Sumana Chatterjee, James Greening, Louise A Metherell

Eur J Endocrinol· December 2020

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A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy.
Avinaash Maharaj, Demetria Theodorou, Indraneel Indi Banerjee, Louise A Metherell, Rathi Prasad

Front Pediatr· April 2020

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Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis.
Wafa Kallali, Ewan Gray, Muhammad Zain Mehdi, Robert Lindsay, Louise A Metherell

Eur J Endocrinol· March 2020

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GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients.
Sumana Chatterjee, Emily Cottrell, Stephen J Rose, Talat Mushtaq, Avinaash V Maharaj, Louise A Metherell

Endocr Connect· March 2020

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ACTH signalling and adrenal development: lessons from mouse models.
Tatiana V Novoselova, Peter J King, Leonardo Guasti, Louise A Metherell, Adrian J L Clark

Endocr Connect· July 2019

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SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.
Nikolaos Settas, Rebecca Persky, Fabio R Faucz, Nicole Sheanon, Antonis Voutetakis, Louise A Metherell

J Clin Endocrinol Metab· May 2019

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Isolated glucocorticoid deficiency: Genetic causes and animal models.
Avinaash Maharaj, Ashwini Maudhoo, Li F Chan, Tatiana Novoselova, Rathi Prasad, Louise A Metherell

J Steroid Biochem Mol Biol· May 2019

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Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.
Helen L Storr, Sumana Chatterjee, Louise A Metherell, Corinne Foley, Ron G Rosenfeld

Endocr Rev· April 2019

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Predicted Benign and Synonymous Variants in Cause Primary Adrenal Insufficiency Through Missplicing.
Avinaash Maharaj, Federica Buonocore, Eirini Meimaridou, Gerard Ruiz-Babot, Leonardo Guasti, Louise A Metherell

J Endocr Soc· January 2019

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HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes.
Sasha R Howard, Roberto Oleari, Ariel Poliandri, Vasiliki Chantzara, Alessandro Fantin, Louise A Metherell

J Clin Endocrinol Metab· September 2018

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