Louise A. Metherell

Charterhouse Square
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 49 publications

Reduced PPOX Expression Causes Intrinsic Pathogenicity in Keratinocytes, Contributing to the Cutaneous Variegate Porphyria Phenotype.

Reduced PPOX Expression Causes Intrinsic Pathogenicity in Keratinocytes, Contributing to the Cutaneous Variegate Porphyria Phenotype.

Journal: The Journal of investigative dermatology

Published: May 22, 2025

Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency.

Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency.

Journal: European journal of endocrinology

Published: October 18, 2024

Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.

Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.

Journal: European journal of endocrinology

Published: September 18, 2024

Choice of gDNA isolation method has a significant impact on average murine Telomere Length estimates.

Choice of gDNA isolation method has a significant impact on average murine Telomere Length estimates.

Journal: Preparative biochemistry & biotechnology

Published: December 13, 2023

Thioredoxin Reductase 2 Variant as a Cause of Micropenis, Undescended Testis, and Selective Glucocorticoid Deficiency.

Thioredoxin Reductase 2 Variant as a Cause of Micropenis, Undescended Testis, and Selective Glucocorticoid Deficiency.

Journal: Hormone research in paediatrics

Published: May 05, 2023

Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature.

Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature.

Journal: European journal of endocrinology

Published: December 24, 2022

Adrenal Dysfunction in Mitochondrial Diseases.

Adrenal Dysfunction in Mitochondrial Diseases.

Journal: International journal of molecular sciences

Published: November 28, 2022

Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation.

Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation.

Journal: Journal of lipid research

Published: October 13, 2022

A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review.

A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review.

Journal: Endocrine connections

Published: June 01, 2022

Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report.

Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report.

Journal: Frontiers in endocrinology

Published: January 22, 2022

Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency.

Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency.

Journal: Journal of the Endocrine Society

Published: November 29, 2021

Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction.

Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction.

Journal: Genes

Published: August 02, 2021

Showing 1-12 of 49

Last Updated: 09/26/2026