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

por Chan, Li F., Campbell, Daniel C., Novoselova, Tatiana V., Clark, Adrian J. L., Metherell, Louise A.
Publicado 2015

ACTH signalling and adrenal development: lessons from mouse models

por Novoselova, Tatiana V, King, Peter J, Guasti, Leonardo, Metherell, Louise A, Clark, Adrian J L, Chan, Li F
Publicado 2019

MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation

por Novoselova, Tatiana V., Hussain, Mashal, King, Peter J., Guasti, Leonardo, Metherell, Louise A., Charalambous, Marika, Clark, Adrian J. L., Chan, Li F.
Publicado 2018

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

por Novoselova, Tatiana V., Rath, Shoshana R., Carpenter, Karen, Pachter, Nicholas, Dickinson, Jan E., Price, Glynis, Chan, Li F., Choong, Catherine S., Metherell, Louise A.
Publicado 2015

Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells

por Sladen, Paul E, Jovanovic, Katarina, Guarascio, Rosellina, Ottaviani, Daniele, Salsbury, Grace, Novoselova, Tatiana, Chapple, J Paul, Yu-Wai-Man, Patrick, Cheetham, Michael E
Publicado 2022

CRISPR-Cas9 correction of OPA1 c.1334G>A: p.R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs

por Sladen, Paul E., Perdigão, Pedro R.L., Salsbury, Grace, Novoselova, Tatiana, van der Spuy, Jacqueline, Chapple, J. Paul, Yu-Wai-Man, Patrick, Cheetham, Michael E.
Publicado 2021

Oncometabolite induced primary cilia loss in pheochromocytoma

por O’Toole, Samuel M, Watson, David S, Novoselova, Tatiana V, Romano, Lisa E L, King, Peter J, Bradshaw, Teisha Y, Thompson, Clare L, Knight, Martin M, Sharp, Tyson V, Barnes, Michael R, Srirangalingam, Umasuthan, Drake, William M, Chapple, J Paul
Publicado 2018

Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization

por Romano, Lisa E.L., Aw, Wen Yih, Hixson, Kathryn M., Novoselova, Tatiana V., Havener, Tammy M., Howell, Stefanie, Taylor-Blake, Bonnie, Hall, Charlotte L., Xing, Lei, Beri, Josh, Nethisinghe, Suran, Perna, Laura, Hatimy, Abubakar, Altadonna, Ginevra Chioccioli, Graves, Lee M., Herring, Laura E., Hickey, Anthony J., Thalassinos, Konstantinos, Chapple, J. Paul, Wolter, Justin M.
Publicado 2022