D. Pham

发表

Sphingosine Kinases: Biochemistry, Regulation, and Roles

S. Pitson, M. Pitman, K. Jarman, 2013 .

A systematic review and meta-analysis of 271 PCDH19-variant individuals identi ﬁ es psychiatric comorbidities, and association of seizure onset and disease severity

I. Scheffer, J. Gécz, L. Sadleir, 2019 .

A selective ATP-competitive sphingosine kinase inhibitor demonstrates anti-cancer properties

Lisa M. Ebert, J. Finnie, S. Pitson, 2015, Oncotarget.

An oncogenic role for sphingosine kinase 2

D. Creek, S. Pitson, M. Samuel, 2016, Oncotarget.

Isoform-selective assays for sphingosine kinase activity.

S. Pitson, M. Pitman, D. Pham, 2012, Methods in molecular biology.

Attenuation of leakiness in doxycycline-inducible expression via incorporation of 3' AU-rich mRNA destabilizing elements.

G. Goodall, S. Pitson, P. Moretti, 2008, BioTechniques.

Gene regulation by Sphingosine kinase.

D. Pham, Duyen H Pham, 2012 .

Protocadherin Mutations in Neurodevelopmental Disorders

J. Gécz, L. Jolly, Chuan Tan, 2016 .

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity

I. Scheffer, J. Gécz, L. Sadleir, 2018, Molecular Psychiatry.

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

I. Scheffer, E. Haan, J. Gécz, 2015, Human molecular genetics.

Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα)

J. Gécz, A. Fox, M. Corbett, 2017, Human molecular genetics.

Enhanced expression of transferrin receptor 1 contributes to oncogenic signalling by sphingosine kinase 1

G. Goodall, A. Tsykin, S. Pitson, 2014, Oncogene.

Sphingosine and FTY720 directly bind pro-survival 14-3-3 proteins to regulate their function.

Angel F. Lopez, S. Pitson, Angel F Lopez, 2010, Cellular signalling.

Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants

I. Scheffer, J. Gécz, S. Robertson, 2021, Human mutation.

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

I. Scheffer, J. Gécz, C. Depienne, 2020, Translational Psychiatry.

A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

K. Friend, M. Shaw, J. Gécz, 2016, European Journal of Human Genetics.

Aicardi Syndrome Is a Genetically Heterogeneous Disorder

I. Scheffer, J. Gécz, L. Richards, 2023, Genes.