Diana R. Alcantara

Brighton, ENG BN19PX, United Kingdom

Last Updated: 09/26/2026

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Found 16 publications

Differences in Cytokine Expression at Baseline and in Response to Mineral Stimulation by Peripheral Blood Mononuclear Cells from Podoconiosis Cases and Healthy Control Individuals.

Differences in Cytokine Expression at Baseline and in Response to Mineral Stimulation by Peripheral Blood Mononuclear Cells from Podoconiosis Cases and Healthy Control Individuals.

Journal: Tropical medicine and infectious disease

Published: September 06, 2024

Evidence for immune activation in pathogenesis of the HLA class II associated disease, podoconiosis.

Evidence for immune activation in pathogenesis of the HLA class II associated disease, podoconiosis.

Journal: Nature communications

Published: December 01, 2023

The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.

The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.

Journal: Oncotarget

Published: February 07, 2023

Multiplexed gene expression analysis of HLA class II-associated podoconiosis implicates chronic immune activation in its pathogenesis.

Multiplexed gene expression analysis of HLA class II-associated podoconiosis implicates chronic immune activation in its pathogenesis.

Journal: Transactions of the Royal Society of Tropical Medicine and Hygiene

Published: June 19, 2020

Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms.

Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms.

Journal: American journal of human genetics

Published: July 23, 2018

Primary brain calcification: an international study reporting novel variants and associated phenotypes.

Primary brain calcification: an international study reporting novel variants and associated phenotypes.

Journal: European journal of human genetics : EJHG

Published: December 19, 2017

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Journal: Brain : a journal of neurology

Published: April 27, 2017

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation.

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation.

Journal: Human molecular genetics

Published: April 23, 2017

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.

Journal: JCI insight

Published: October 05, 2016

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

Journal: American journal of human genetics

Published: November 04, 2015

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

Journal: Human mutation

Published: June 24, 2015

Congenital microcephaly.

Congenital microcephaly.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: May 13, 2014

Showing 1-12 of 16

Last Updated: 09/26/2026