Article
Endocrinology & Metabolism
Emily Cottrell, Avinaash Maharaj, Jack Williams, Sumana Chatterjee, Grazia Cirillo, Emanuele Miraglia del Giudice, Adalgisa Festa, Stefania Palumbo, Donatella Capalbo, Mariacarolina Salerno, Claudio Pignata, Martin O. Savage, Katharina Schilbach, Martin Bidlingmaier, Vivian Hwa, Louise A. Metherell, Anna Grandone, Helen L. Storr
Summary: This study identified a novel GHR 6 Omega pseudoexon variant that causes severe growth failure in individuals with growth hormone insensitivity. This represents a new mechanism of Laron syndrome and the first deep intronic variant identified to cause severe postnatal growth failure.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Naseer Ali, Avinaash Vickram Maharaj, Federica Buonocore, John C. Achermann, Louise A. Metherell
Summary: This is a case report of an eight-year-old South Asian boy with primary adrenal insufficiency (PAI) presenting with progressive hyperpigmentation. Molecular evaluation revealed changes in two genes associated with early stages of steroid biosynthesis. However, no variants in other known causal genes were detected. The parents of the boy did not show any signs of adrenal cortical dysfunction. The authors speculated that the phenotype of isolated glucocorticoid deficiency in this child may be due to tri-allelic inheritance or the combined effect of the two gene variants.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Madeleine Corkery-Hayward, Louise A. A. Metherell
Summary: Cortisol plays a central role in homeostasis, including the stress and immune response. Adrenal insufficiency and impaired cortisol production are potentially life-threatening disorders. Mitochondria, besides providing ATP for steroidogenesis, also play a crucial role in detoxifying harmful by-products during cortisol synthesis. Mutations in nuclear or mitochondrial DNA impairing mitochondrial function can lead to debilitating multi-system diseases. Recent findings indicate a link between mitochondrial diseases and isolated cortisol insufficiency. However, adrenal insufficiency in mitochondrial diseases is rare, suggesting that mitochondrial mutations alone may not be solely responsible for cortisol insufficiency. Further research is needed to understand the pathogenesis of adrenal disease in these individuals.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Endocrinology & Metabolism
Afiya Andrews, Emily Cottrell, Avinaash Maharaj, Tasneem Ladha, Jack Williams, Katharina Schilbach, Lena R. Kaisinger, John R. B. Perry, Louise A. Metherell, Peter J. McCormick, Helen L. Storr
Summary: Two novel GHR gene variants were found in two GHI patients, which resulted in increased levels of cleaved GHR and GHBP, leading to inhibition of growth hormone (GH) signaling. These findings suggest a potential therapeutic approach of inhibiting GH binding by excess GHBP.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Christopher J. Smith, Jack L. Williams, Charlotte Hall, Josefina Casas, Matthew P. Caley, Edel A. O'Toole, Rathi Prasad, Louise A. Metherell
Summary: SPLIS is a syndrome characterized by adrenal insufficiency, steroid-resistant nephrotic syndrome, hypothyroidism, neurological disease, and ichthyosis. A study found that the deficiency of SGPL1 leads to an accumulation of S1P, sphingosine, and ceramides, while its overexpression reduces these substances.
JOURNAL OF LIPID RESEARCH
(2023)
Article
Biochemical Research Methods
E. Kidd, E. Meimaridou, J. Williams, L. A. Metherell, A. J. Walley, U. L. Fairbrother
Summary: Telomere length and integrity are closely associated with age-related diseases, genetic and environmental factors. The methods used to isolate mouse genomic DNA have a significant impact on the estimation of average telomere length. This study shows that the T/S ratio, a measure of telomere length, is significantly smaller when gDNA is isolated using spin columns or magnetic beads compared to traditional phenol/chloroform methods. These findings highlight the discrepancies in telomere length measurements caused by different DNA extraction techniques.
PREPARATIVE BIOCHEMISTRY & BIOTECHNOLOGY
(2023)
Meeting Abstract
Dermatology
C. J. Smith, J. L. Williams, C. Hall, M. P. Caley, E. A. O'Toole, R. Prasad, L. A. Metherell
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2022)
Meeting Abstract
Endocrinology & Metabolism
Emily Cottrell, Avinaash V. Maharaj, Barbara Triggs-Raine, Thatchawan Thanasupawat, Jack Williams, Masanobu Fujimoto, Louise A. Metherell, Vivian Hwa, Thomas Klonisch, Sabine Hombach-Klonisch, Helen L. Storr
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Meeting Abstract
Endocrinology & Metabolism
Salwa A. Musa, Mohamed A. Abdullah, Samar S. Hassan, Younus Qamar, Charlotte Hall, Saptarshi Maitra, Avinaash V. Maharaj, Lucia Mariela Marroquin Ramirez, Jordan Read, Christopher Smith, Li F. Chan, Louise A. Metherell
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Meeting Abstract
Endocrinology & Metabolism
Emily Cottrell, Afiya Andrews, Jack Williams, Sumana Chatterjee, Sujata Edate, Louise A. Metherell, Vivian Hwa, Helen L. Storr
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Article
Endocrinology & Metabolism
Avinaash Maharaj, Tulay Guran, Federica Buonocore, John C. Achermann, Louise Metherell, Rathi Prasad, Semra Cetinkaya
Summary: Sphingosine-1-phosphate lyase (SGPL1) insufficiency syndrome (SPLIS) is a multisystemic disorder characterized by steroid-resistant nephrotic syndrome and primary adrenal insufficiency. This case report presents a young girl with a novel homozygous variant in SGPL1, p.D350G, who developed primary adrenal insufficiency and later primary hypothyroidism during follow-up.
JOURNAL OF THE ENDOCRINE SOCIETY
(2022)
Meeting Abstract
Dermatology
C. J. Smith, J. L. Williams, M. P. Caley, E. A. O'Toole, R. Prasad, L. A. Metherell
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2021)
Meeting Abstract
Endocrinology & Metabolism
Federica Buonocore, Avinaash Maharaj, Younus Qamar, Katrin Koehler, Jenifer P. Suntharalingham, Li F. Chan, Bruno Ferraz-de-Souza, Claire R. Hughes, Lin Lin, Rathi Prasad, Jeremy Allgrove, Edward T. Andrews, Charles R. Buchanan, Tim D. Cheetham, Elizabeth C. Crowne, Justin H. Davies, John W. Gregory, Peter C. Hindmarsh, Tony Hulse, Nils P. Krone, Pratik Shah, Mohamad G. Shaikh, Catherine Roberts, Peter E. Clayton, Mehul T. Dattani, N. Simon Thomas, Angela Huebner, Adrian J. Clark, Louise A. Metherell, John C. Achermann
HORMONE RESEARCH IN PAEDIATRICS
(2021)
Meeting Abstract
Endocrinology & Metabolism
Sumana Chatterjee, Debora Romeo Bertola, Chizo Agwu, Avinaash Maharaj, Jack Williams, Emily Cottrell, Lucy Shapiro, Afiya Andrews, Martin O. Savage, Carles Gaston-Massuet, Louise A. Metherell, Helen L. Storr
HORMONE RESEARCH IN PAEDIATRICS
(2021)
Meeting Abstract
Endocrinology & Metabolism
Emily Cottrell, Avinaash Maharaj, Jack Williams, Sumana Chatterjee, Grazia Cirillo, Emanuele Miraglia del Giudice, Adalgisa Festa, Stefania Palumbo, Donatella Capalbo, Mariacarolina Salerno, Claudio Pignata, Martin O. Savage, Katharina Schilbach, Martin Bidlingmaier, Vivian Hwa, Louise A. Metherell, Anna Grandone, Helen L. Storr
HORMONE RESEARCH IN PAEDIATRICS
(2021)