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Page 1
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.
Nat Genet. 2021 Sep;53(9):1360-1372. doi: 10.1038/s41588-021-00906-y. Epub 2021 Aug 12.
Nat Genet. 2021.
PMID: 34385710
Free PMC article.
Mylk3 null C57BL/6N mice develop cardiomyopathy, whereas Nnt null C57BL/6J mice do not.
Williams JL, Paudyal A, Awad S, Nicholson J, Grzesik D, Botta J, Meimaridou E, Maharaj AV, Stewart M, Tinker A, Cox RD, Metherell LA.
Williams JL, et al. Among authors: metherell la.
Life Sci Alliance. 2020 Mar 25;3(4):e201900593. doi: 10.26508/lsa.201900593. Print 2020 Apr.
Life Sci Alliance. 2020.
PMID: 32213617
Free PMC article.
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Loss of Nnt Increases Expression of Oxidative Phosphorylation Complexes in C57BL/6J Hearts.
Williams JL, Hall CL, Meimaridou E, Metherell LA.
Williams JL, et al. Among authors: metherell la.
Int J Mol Sci. 2021 Jun 5;22(11):6101. doi: 10.3390/ijms22116101.
Int J Mol Sci. 2021.
PMID: 34198873
Free PMC article.
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Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency.
Maudhoo A, Maharaj A, Buonocore F, Martos-Moreno GA, Argente J, Achermann JC, Chan LF, Metherell LA.
Maudhoo A, et al. Among authors: metherell la.
Endocrinol Diabetes Metab Case Rep. 2021 Sep 1;2021:21-0128. doi: 10.1530/EDM-21-0128. Online ahead of print.
Endocrinol Diabetes Metab Case Rep. 2021.
PMID: 34564059
Free PMC article.
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Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected.
Tsai SL, Green J, Metherell LA, Curtis F, Fernandez B, Healey A, Curtis J.
Tsai SL, et al. Among authors: metherell la.
Horm Res Paediatr. 2016;85(1):35-42. doi: 10.1159/000441843. Epub 2015 Dec 10.
Horm Res Paediatr. 2016.
PMID: 26650942
Free article.
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Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene.
Hwa V, Camacho-Hübner C, Little BM, David A, Metherell LA, El-Khatib N, Savage MO, Rosenfeld RG.
Hwa V, et al. Among authors: metherell la.
Horm Res. 2007;68(5):218-24. doi: 10.1159/000101334. Epub 2007 Mar 28.
Horm Res. 2007.
PMID: 17389811
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