Three‐Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence‐Structure Analysis of its Disease‐Causing Variations

по Metherell, Louise A, Guerra‐Assunção, José Afonso, Sternberg, Michael J, David, Alessia
Опубликовано в: Hum Mutat (2016)

Genetic Defects in the Growth Hormone–IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth

по Savage, Martin O., Hwa, Vivian, David, Alessia, Rosenfeld, Ron G., Metherell, Louise A.
Опубликовано 2011

Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon

по David, Alessia, Srirangalingam, Umasuthan, Metherell, Louise A., Khoo, Bernard, Clark, Adrian J. L.
Опубликовано в: Mol Endocrinol (2010)

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

по Maharaj, Avinaash, Theodorou, Demetria, Banerjee, Indraneel (Indi), Metherell, Louise A., Prasad, Rathi, Wallace, Dean
Опубликовано в: Front Pediatr (2020)

Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2

по Chung, Teng-Teng L L, Chan, Li F, Metherell, Louise A, Clark, Adrian J L
Опубликовано 2010

Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations

по Chan, Li F, Chung, Teng-Teng, Massoud, Ahmed F, Metherell, Louise A, Clark, Adrian J L
Опубликовано 2009

Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children

по Chan, Li F., Campbell, Daniel C., Novoselova, Tatiana V., Clark, Adrian J. L., Metherell, Louise A.
Опубликовано в: Front Endocrinol (Lausanne) (2015)

ACTH signalling and adrenal development: lessons from mouse models

по Novoselova, Tatiana V, King, Peter J, Guasti, Leonardo, Metherell, Louise A, Clark, Adrian J L, Chan, Li F
Опубликовано в: Endocr Connect (2019)

An Atypical Case of Familial Glucocorticoid Deficiency without Pigmentation Caused by Coexistent Homozygous Mutations in MC2R (T152K) and MC1R (R160W)

по Turan, Serap, Hughes, Claire, Atay, Zeynep, Guran, Tulay, Haliloglu, Belma, Clark, Adrian J. L., Bereket, Abdullah, Metherell, Louise A.
Опубликовано 2012

SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency

по Settas, Nikolaos, Persky, Rebecca, Faucz, Fabio R, Sheanon, Nicole, Voutetakis, Antonis, Lodish, Maya, Metherell, Louise A, Stratakis, Constantine A
Опубликовано в: J Clin Endocrinol Metab (2018)

MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation

по Novoselova, Tatiana V., Hussain, Mashal, King, Peter J., Guasti, Leonardo, Metherell, Louise A., Charalambous, Marika, Clark, Adrian J. L., Chan, Li F.
Опубликовано в: FASEB J (2018)

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

по Kallali, Wafa, Gray, Ewan, Mehdi, Muhammad Zain, Lindsay, Robert, Metherell, Louise A, Buonocore, Federica, Suntharalingham, Jenifer P, Achermann, John C, Donaldson, Malcolm
Опубликовано в: Eur J Endocrinol (2020)

NNT Pseudoexon Activation as a Novel Mechanism for Disease in Two Siblings With Familial Glucocorticoid Deficiency

по Novoselova, Tatiana V., Rath, Shoshana R., Carpenter, Karen, Pachter, Nicholas, Dickinson, Jan E., Price, Glynis, Chan, Li F., Choong, Catherine S., Metherell, Louise A.
Опубликовано в: J Clin Endocrinol Metab (2015)

Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action

по Storr, Helen L, Chatterjee, Sumana, Metherell, Louise A, Foley, Corinne, Rosenfeld, Ron G, Backeljauw, Philippe F, Dauber, Andrew, Savage, Martin O, Hwa, Vivian
Опубликовано в: Endocr Rev (2018)

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

по Chatterjee, Sumana, Cottrell, Emily, Rose, Stephen J, Mushtaq, Talat, Maharaj, Avinaash V, Williams, Jack, Savage, Martin O, Metherell, Louise A, Storr, Helen L
Опубликовано в: Endocr Connect (2020)

Pseudoexon Activation as a Novel Mechanism for Disease Resulting in Atypical Growth-Hormone Insensitivity

по Metherell, Louise A., Akker, Scott A., Munroe, Patricia B, Rose, Stephen J, Caulfield, Mark, Savage, Martin O., Chew, Shern L., Clark, Adrian J. L.
Опубликовано 2001

Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia

по Lin, Lin, Hindmarsh, Peter C, Metherell, Louise A, Alzyoud, Mahmoud, Al-Ali, Maryam, Brain, Caroline E, Clark, Adrian J L, Dattani, Mehul T, Achermann, John C
Опубликовано 2007

MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans

по Hughes, Claire R., Guasti, Leonardo, Meimaridou, Eirini, Chuang, Chen-Hua, Schimenti, John C., King, Peter J., Costigan, Colm, Clark, Adrian J.L., Metherell, Louise A.
Опубликовано 2012

Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid defi...

по Chan, Li F, Metherell, Louise A, Krude, Heiko, Ball, Colin, O'Riordan, Stephen M P, Costigan, Colm, Lynch, Sally A, Savage, Martin O, Cavarzere, Paolo, Clark, Adrian J L
Опубликовано 2009

Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD)

по Prasad, Rathi, Chan, Li F., Hughes, Claire R., Kaski, Juan P., Kowalczyk, Julia C., Savage, Martin O., Peters, Catherine J., Nathwani, Nisha, Clark, Adrian J. L., Storr, Helen L., Metherell, Louise A.
Опубликовано 2014