نتائج البحث - "Metherell, Louise A."

1

Conference

04190 Adrenal insufficiency associated with mutations in haem biosynthesis genes

المؤلفون: Al-Salihi, Ahmed, Smith, Chris J, Jackson, Adam, Janecke, Andreas, Steichen, Elisabeth, Darby, Denise, Griffin, Liezel, Banka, Siddharth, Elsayed, Solaf, Talbi, Neila, Gouya, Laurent, Delemer, Brigitte, Chan, Li F, Metherell, Louise A

المصدر: Session 3 – Heme metabolism and cellular energy: inter-organ heme signaling and import/export systems (September 23rd, 2024) ; page A4.1-A4

الاتاحة: http://dx.doi.org/10.1136/bmjgast-2024-icpp.7
https://syndication.highwire.org/content/doi/10.1136/bmjgast-2024-ICPP.7

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2

Academic Journal

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

المؤلفون: Smith, Christopher J., Williams, Jack L., Hall, Charlotte, Casas, Josefina, Caley, Matthew P., O'Toole, Edel A., Prasad, Rathi, Metherell, Louise A.

مصطلحات موضوعية: Pyridoxal 5′-phosphate-dependent aldehyde lyase, Calcium signaling, Ceramides, Differentiation, Epidermis, Gene set enrichment analysis, Keratinocytes, Lipid lamellae imbalance, Organotypics, Sphingolipid accumulation, http://metadata.un.org/sdg/3, Ensure healthy lives and promote well-being for all at all ages

Relation: Journal of lipid research; Publisher's version; https://doi.org/10.1016/j.jlr.2023.100351; Sí; Journal of Lipid Research 64 (4): 100351 (2023); http://hdl.handle.net/10261/307834; 2-s2.0-85153548723; https://api.elsevier.com/content/abstract/scopus_id/85153548723

الاتاحة: http://hdl.handle.net/10261/307834
https://doi.org/10.1016/j.jlr.2023.100351
https://api.elsevier.com/content/abstract/scopus_id/85153548723

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3

Academic Journal

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

المؤلفون: Patjamontri, Supitcha, Lucas-Herald, Angela K., McMillan, Martin, Prasad, Rathi, Metherell, Louise A., McGowan, Ruth, Tobias, Edward S., Ahmed, S. Faisal

المصدر: Hormone Research in Paediatrics ; volume 97, issue 5, page 509-514 ; ISSN 1663-2818 1663-2826

الاتاحة: http://dx.doi.org/10.1159/000535528
https://karger.com/hrp/article-pdf/97/5/509/4283293/000535528.pdf

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4

Academic Journal

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

المؤلفون: Andrews, Afiya, Cottrell, Emily, Maharaj, Avinaash, Ladha, Tasneem, Williams, Jack, Schilbach, Katharina, Kaisinger, Lena R, Perry, John R B, Metherell, Louise A, McCormick, Peter J, Storr, Helen L

المساهمون: NIHR, ESPE, Medical Research Council

المصدر: European Journal of Endocrinology ; volume 188, issue 4, page 353-365 ; ISSN 0804-4643 1479-683X

الاتاحة: https://doi.org/10.1093/ejendo/lvad039
https://academic.oup.com/ejendo/advance-article-pdf/doi/10.1093/ejendo/lvad039/49582819/lvad039.pdf
https://academic.oup.com/ejendo/article-pdf/188/4/353/49761954/lvad039.pdf

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5

Academic Journal

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

المؤلفون: Patjamontri, Supitcha, Lucas-Herald, Angela K., McMillan, Martin, Prasad, Rathi, Metherell, Louise A., McGowan, Ruth, Tobias, Edward S., Ahmed, S. Faisal

المصدر: Hormone Research in Paediatrics; 2024, Vol. 97 Issue 5, p509-514, 6p

مصطلحات موضوعية: MONONUCLEAR leukocytes, WHOLE genome sequencing, CRYPTORCHISM, GENE expression, GENETIC variation

6

Academic Journal

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

المؤلفون: Maharaj, Avinaash, Kwong, Ruth, Williams, Jack, Smith, Christopher, Storr, Helen, Krone, Ruth, Braslavsky, Debora, Clemente, Maria, Ram, Nanik, Banerjee, Indraneel, Çetinkaya, Semra, Buonocore, Federica, Güran, Tülay, Achermann, John C, Metherell, Louise, Prasad, Rathi

المصدر: Endocrine Connections , 11 (8) , Article e220250. (2022)

مصطلحات موضوعية: SGPL1, primary adrenal insufficiency, primary gonadal insufficiency, primary hypothyroidism, sphingolipids, sphingosine-1-phosphate lyase

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10153531/1/Achermann_A%20retrospective%20analysis%20of%20endocrine%20disease%20in%20sphingosine-1-phosphate%20lyase%20insufficiency_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10153531/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10153531/1/Achermann_A%20retrospective%20analysis%20of%20endocrine%20disease%20in%20sphingosine-1-phosphate%20lyase%20insufficiency_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10153531/

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7

Academic Journal

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

المؤلفون: Ali, Naseer, Maharaj, Avinaash Vickram, Buonocore, Federica, Achermann, John C, Metherell, Louise A

المصدر: Frontiers in Endocrinology , 13 , Article 860055. (2022)

مصطلحات موضوعية: primary adrenal insufficiency, isolated glucocorticoid deficiency, STAR, CYP11A1 (P450scc), puberty

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10147263/1/fendo-13-860055.pdf; https://discovery.ucl.ac.uk/id/eprint/10147263/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10147263/1/fendo-13-860055.pdf
https://discovery.ucl.ac.uk/id/eprint/10147263/

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8

Academic Journal

Insights from long term follow-up of a girl with adrenal insufficiency and sphingosine-1-phosphate lyase deficiency

المؤلفون: Maharaj, Avinaash, Güran, Tülay, Buonocore, Federica, Achermann, John C, Metherell, Louise, Prasad, Rathi, Çetinkaya, Semra

المصدر: Journal of the Endocrine Society (2022) (In press).

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10144114/1/Buonocore_bvac020.pdf; https://discovery.ucl.ac.uk/id/eprint/10144114/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10144114/1/Buonocore_bvac020.pdf
https://discovery.ucl.ac.uk/id/eprint/10144114/

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9

Academic Journal

Adrenal insufficiency associated with mutations in haem biosynthesis genes, is it a coincidence?

المؤلفون: Al-Salihi, Ahmed, Smith, Chris, Jackson, Adam, Janecke, Andreas, Steichen, Elisabeth, Darby, Denise, Griffin, Liezel, Banka, Siddharth, Elsayed, Solaf, Talbi, Neila, Gouya, Laurent, Delemer, Brigitte, Chan, Li, Metherell, Louise

المصدر: Endocrine Abstracts ; ISSN 1479-6848

الاتاحة: http://dx.doi.org/10.1530/endoabs.104.p18
http://www.endocrine-abstracts.org/ea/0104/ea0104P18

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10

Academic Journal

WES as a tool for differential diagnosis of adrenal insufficiency in sudanese children

المؤلفون: Smith, Chris, Abdullah, Mohamed, Hassan, Samar, Fauzi, Luqman, Qamar, Younus, Hall, Charlotte, Maitra, Saptarshi, Maharaj, Avinaash, Marroquin, Ramirez Lucia, Read, Jordan, Chan, Li, Musa, Salwa, Metherell, Louise

المصدر: Endocrine Abstracts ; ISSN 1479-6848

الاتاحة: http://dx.doi.org/10.1530/endoabs.104.p17
http://www.endocrine-abstracts.org/ea/0104/ea0104P17

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11

Academic Journal

Genetic analysis of pediatric primary adrenal insufficiency of unknown etiology: 25 years' experience in the UK

وصف الملف: text

Relation: https://eprints.soton.ac.uk/453425/1/bvab086.pdf; Buonocore, Federica, Maharaj, Avinaash, Qamar, Younus, Koehler, Katrin, Suntharalingham, Jenifer P, Chan, Li F, Ferraz-de-Souza, Bruno, Lin, Lin, Prasad, Rathi, Allgrove, Jeremy, Andrews, Edward T, Buchanan, Charles R, Cheetham, Tim D, Crowne, Elizabeth C, Davies, Justin H, Gregory, John W, Hindmarsh, Peter C, Hulse, Tony, Krone, Nils P, Shah, Pratik, Shaikh, M Guftar, Roberts, Catherine, Clayton, Peter E, Dattani, Mehul T, Thomas, N Simon, Huebner, Angela, Clark, Adrian J, Metherell, Louise A and Achermann, John C (2021) Genetic analysis of pediatric primary adrenal insufficiency of unknown etiology: 25 years' experience in the UK. Journal of the Endocrine Society, 5 (8), [bvab086]. (doi:10.1210/jendso/bvab086 ).

الاتاحة: https://eprints.soton.ac.uk/453425/
https://eprints.soton.ac.uk/453425/1/bvab086.pdf

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12

Academic Journal

Loss of NNT increases expression of oxidative phosphorylation complexes in C57BL/6J hearts

المؤلفون: Williams, Jack L., Hall, Charlotte L., Meimaridou, Eirini, Metherell, Louise A.

مصطلحات موضوعية: 570 Life sciences, biology, 610 Medicine & health

وصف الملف: text

Relation: http://repository.londonmet.ac.uk/6737/1/ijms-22-06101.pdf; Williams, Jack L., Hall, Charlotte L., Meimaridou, Eirini and Metherell, Louise A. (2021) Loss of NNT increases expression of oxidative phosphorylation complexes in C57BL/6J hearts. International Journal of Molecular Sciences, 22 (11). pp. 1-12. ISSN 1422-0067

الاتاحة: http://repository.londonmet.ac.uk/6737/
https://doi.org/10.3390/ijms22116101
http://repository.londonmet.ac.uk/6737/1/ijms-22-06101.pdf

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13

Academic Journal

Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis

المؤلفون: Kallali, Wafa, Gray, Ewan, Mehdi, Muhammad Zain, Lindsay, Robert, Metherell, Louise A., Buonocore, Federica, Suntharalingham, Jenifer P., Achermann, John C., Donaldson, Malcolm

وصف الملف: text

Relation: http://eprints.gla.ac.uk/210895/1/210895.pdf; Kallali, W. , Gray, E. , Mehdi, M. Z., Lindsay, R. , Metherell, L. A., Buonocore, F., Suntharalingham, J. P., Achermann, J. C. and Donaldson, M. (2020) Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis. European Journal of Endocrinology , 182(3), K15-K24. (doi:10.1530/eje-19-0696 ) (PMID:31917682)

الاتاحة: http://eprints.gla.ac.uk/210895/
http://eprints.gla.ac.uk/210895/1/210895.pdf

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14

Academic Journal

Mylk3 null C57BL/6N mice develop cardiomyopathy, whereas Nnt null C57BL/6J mice do not

المؤلفون: Williams, Jack L., Paudyal, Anju, Awad, Sherine, Nicholson, James, Grzesik, Dominika, Botta, Joaquin, Meimaridou, Eirini, Maharaj, Avinaash, Stewart, Michelle, Tinker, Andrew, Cox, Roger D., Metherell, Louise A.

مصطلحات موضوعية: 570 Life sciences, biology

وصف الملف: text

Relation: https://repository.londonmet.ac.uk/5716/1/e201900593.full.pdf; Williams, Jack L., Paudyal, Anju, Awad, Sherine, Nicholson, James, Grzesik, Dominika, Botta, Joaquin, Meimaridou, Eirini, Maharaj, Avinaash, Stewart, Michelle, Tinker, Andrew, Cox, Roger D. and Metherell, Louise A. (2020) Mylk3 null C57BL/6N mice develop cardiomyopathy, whereas Nnt null C57BL/6J mice do not. Life Science Alliance, 3 (4). pp. 1-15. ISSN 2575-1077

الاتاحة: http://repository.londonmet.ac.uk/5716/
https://doi.org/10.26508/lsa.201900593
https://repository.londonmet.ac.uk/5716/1/e201900593.full.pdf

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15

Academic Journal

A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy

المؤلفون: Maharaj, Avinaash, Theodorou, Demetria, Banerjee, Indraneel (Indi), Metherell, Louise A., Prasad, Rathi, Wallace, Dean

المصدر: Frontiers in Pediatrics ; volume 8 ; ISSN 2296-2360

الاتاحة: http://dx.doi.org/10.3389/fped.2020.00151
https://www.frontiersin.org/article/10.3389/fped.2020.00151/full

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16

Academic Journal

GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients

المؤلفون: Chatterjee, Sumana, Cottrell, Emily, Rose, Stephen J, Mushtaq, Talat, Maharaj, Avinaash V, Williams, Jack, Savage, Martin O, Metherell, Louise A, Storr, Helen L

المصدر: Endocrine Connections ; volume 9, issue 3, page 211-222 ; ISSN 2049-3614

الاتاحة: http://dx.doi.org/10.1530/ec-20-0026
https://ec.bioscientifica.com/view/journals/ec/9/3/EC-20-0026.xml
https://ec.bioscientifica.com/downloadpdf/journals/ec/9/3/EC-20-0026.xml

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17

Academic Journal

Predicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing

المؤلفون: Maharaj, Avinaash, Buonocore, Federica, Meimaridou, Eirini, Ruiz-Babot, Gerard, Guasti, Leonardo, Peng, Hwei Ming, Capper, Cameron P., Burgos-Tirado, Neikelyn, Prasad, Rathi, Hughes, Claire R., Maudhoo, Ashwini, Crowne, Elizabeth, Cheetham, Timothy D., Brain, Caroline E., Suntharalingham, Jenifer P., Striglioni, Niccolò, Yuksel, Bilgin, Gurbuz, Fatih, Gupta, Sangay, Lindsay, Robert, Couch, Robert, Spoudeas, Helen A., Guran, Tulay, Johnson, Stephanie, Fowler, Dallas J., Conwell, Louise S., McInerney-Leo, Aideen M., Drui, Delphine, Cariou, Bertrand, Lopez-Siguero, Juan P., Harris, Mark, Duncan, Emma L., Hindmarsh, Peter C., Auchus, Richard J., Donaldson, Malcolm D., Achermann, John C., Metherell, Louise A.

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: Addison disease, CYP11A1, Cytochrome p450scc, Side chain cleavage enzyme, Silent variant

وصف الملف: application/pdf

Relation: https://eprints.qut.edu.au/231086/1/js.2018_00130.pdf; Maharaj, Avinaash, Buonocore, Federica, Meimaridou, Eirini, Ruiz-Babot, Gerard, Guasti, Leonardo, Peng, Hwei Ming, Capper, Cameron P., Burgos-Tirado, Neikelyn, Prasad, Rathi, Hughes, Claire R., Maudhoo, Ashwini, Crowne, Elizabeth, Cheetham, Timothy D., Brain, Caroline E., Suntharalingham, Jenifer P., Striglioni, Niccolò, Yuksel, Bilgin, Gurbuz, Fatih, Gupta, Sangay, Lindsay, Robert, Couch, Robert, Spoudeas, Helen A., Guran, Tulay, Johnson, Stephanie, Fowler, Dallas J., Conwell, Louise S., McInerney-Leo, Aideen M., Drui, Delphine, Cariou, Bertrand, Lopez-Siguero, Juan P., Harris, Mark, Duncan, Emma L., Hindmarsh, Peter C., Auchus, Richard J., Donaldson, Malcolm D., Achermann, John C., & Metherell, Louise A. (2019) Predicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing. Journal of the Endocrine Society, 3(1), pp. 201-221.; https://eprints.qut.edu.au/231086/; Institute of Health and Biomedical Innovation

الاتاحة: https://eprints.qut.edu.au/231086/

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