The Contribution of Missense Mutations in Core and Rim Residues of Protein–Protein Interfaces to Human Disease

Por David, Alessia, Sternberg, Michael J.E.
Publicado no J Mol Biol (2015)

Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology Insights

Por Ittisoponpisan, Sirawit, Alhuzimi, Eman, Sternberg, Michael J. E., David, Alessia
Publicado no Hum Mutat (2017)

Exploring the cellular basis of human disease through a large-scale mapping of deleterious genes to cell types

Por Cornish, Alex J., Filippis, Ioannis, David, Alessia, Sternberg, Michael J.E.
Publicado no Genome Med (2015)

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

Por Metherell, Louise A, Guerra‐Assunção, José Afonso, Sternberg, Michael J, David, Alessia
Publicado no Hum Mutat (2016)

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

Por Savage, Martin O., Hwa, Vivian, David, Alessia, Rosenfeld, Ron G., Metherell, Louise A.
Publicado em 2011

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

Por David, Alessia, Srirangalingam, Umasuthan, Metherell, Louise A., Khoo, Bernard, Clark, Adrian J. L.
Publicado no Mol Endocrinol (2010)

Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency

Por Vairamani, Kanimozhi, Merjaneh, Lina, Casano-Sancho, Paula, Sanli, Merve Emecen, David, Alessia, Metherell, Louise A., Savage, Martin O., Sánchez del Pozo, Jaime, Backeljauw, Philippe F., Rosenfeld, Ron G., Aisenberg, Javier, Dauber, Andrew, Hwa, Vivian
Publicado no J Endocr Soc (2017)

IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty

Por Howard, Sasha R, Guasti, Leonardo, Ruiz‐Babot, Gerard, Mancini, Alessandra, David, Alessia, Storr, Helen L, Metherell, Lousie A, Sternberg, Michael JE, Cabrera, Claudia P, Warren, Helen R, Barnes, Michael R, Quinton, Richard, de Roux, Nicolas, Young, Jacques, Guiochon‐Mantel, Anne, Wehkalampi, Karoliina, André, Valentina, Gothilf, Yoav, Cariboni, Anna, Dunkel, Leo
Publicado no EMBO Mol Med (2016)

In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism

Por Salvatori, Roberto, Radian, Serban, Diekmann, Yoan, Iacovazzo, Donato, David, Alessia, Gabrovska, Plamena, Grassi, Giorgia, Bussell, Anna-Marie, Stals, Karen, Weber, Astrid, Quinton, Richard, Crowne, Elizabeth C, Corazzini, Valentina, Metherell, Lou, Kearney, Tara, Du Plessis, Daniel, Sinha, Ajay Kumar, Baborie, Atik, Lecoq, Anne-Lise, Chanson, Philippe, Ansorge, Olaf, Ellard, Sian, Trainer, Peter J, Balding, David, Thomas, Mark G, Korbonits, Márta
Publicado no Eur J Endocrinol (2017)