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Dysregulated metabolic pathways in age-related macular degeneration

Scientific reports, 2020-02, Vol.10 (1), p.2464, Article 2464

2020

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Clinical and Molecular Genetics of the Phosphodiesterases (PDEs)

Endocrine reviews, 2014-04, Vol.35 (2), p.195-233

2014

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Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation

The New England journal of medicine, 2014-12, Vol.371 (25), p.2363-2374

2014

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Exosomes containing HIV protein Nef reorganize lipid rafts potentiating inflammatory response in bystander cells

PLoS pathogens, 2019-07, Vol.15 (7), p.e1007907-e1007907

2019

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SCReadCounts: estimation of cell-level SNVs expression from scRNA-seq data

BMC genomics, 2021-09, Vol.22 (1), p.689-689, Article 689

2021

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Alternative splicing promotes tumour aggressiveness and drug resistance in African American prostate cancer

Nature communications, 2017-06, Vol.8 (1), p.15921-15921, Article 15921

2017

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Embryonic stem cell factor FOXD3 (Genesis) defects in gastrointestinal stromal tumors

Endocrine-related cancer, 2023-10, Vol.30 (10)

2023

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scReQTL: an approach to correlate SNVs to gene expression from individual scRNA-seq datasets

BMC genomics, 2021-01, Vol.22 (1), p.40-40, Article 40

2021

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Sex-dependent transcription of cardiac electrophysiology and links to acetylation modifiers based on the GTEx database

Frontiers in cardiovascular medicine, 2022-07, Vol.9, p.941890-941890

2022

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Prostate cancer cell-platelet bidirectional signaling promotes calcium mobilization, invasion and apoptotic resistance via distinct receptor-ligand pairs

Scientific reports, 2023-02, Vol.13 (1), p.2864-2864, Article 2864

2023

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Systematic pan-cancer analysis of somatic allele frequency

Scientific reports, 2018-05, Vol.8 (1), p.7735-12, Article 7735

2018

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Identification of novel gene targets and functions of p21-activated kinase 1 during DNA damage by gene expression profiling

PloS one, 2013-08, Vol.8 (8), p.e66585-e66585

2013

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Selective disruption of trigeminal sensory neurogenesis and differentiation in a mouse model of 22q11.2 deletion syndrome

Disease models & mechanisms, 2022-02, Vol.15 (2)

2022

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Evaluation of an angiotensin Type 1 receptor blocker on the reconsolidation of fear memory

Translational psychiatry, 2020-10, Vol.10 (1), p.363-363, Article 363

2020

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Phosphodiesterase sequence variants may predispose to prostate cancer

Endocrine-related cancer, 2015-08, Vol.22 (4), p.519-530

2015

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Carney complex and lentiginosis

Pigment cell and melanoma research, 2009-10, Vol.22 (5), p.580-587

2009

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Genomic insights into triple-negative and HER2-positive breast cancers using isogenic model systems

PloS one, 2013-09, Vol.8 (9), p.e74993-e74993

2013

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Clinical and molecular genetics of acromegaly: MEN1, Carney complex, McCune–Albright syndrome, familial acromegaly and genetic defects in sporadic tumors

Reviews in endocrine & metabolic disorders, 2008-03, Vol.9 (1), p.1-11

2008

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Estimating the Allele-Specific Expression of SNVs From 10× Genomics Single-Cell RNA-Sequencing Data

Genes, 2020-02, Vol.11 (3), p.240

2020

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Deletions of the PRKAR1A Locus at 17q24.2-q24.3 in Carney Complex: Genotype-Phenotype Correlations and Implications for Genetic Testing

The journal of clinical endocrinology and metabolism, 2014-01, Vol.99 (1), p.E183-E188

2014

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BRCA1 deficiency in mature CD8+ T lymphocytes impairs antitumor immunity

Journal for immunotherapy of cancer, 2023-02, Vol.11 (2), p.e005852

2023

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Activation of Cyclic AMP Signaling Leads to Different Pathway Alterations in Lesions of the Adrenal Cortex Caused by Germline PRKAR1A Defects versus Those due to Somatic GNAS Mutations

The journal of clinical endocrinology and metabolism, 2012-04, Vol.97 (4), p.E687-E693

2012

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Phosphodiesterase 11A (PDE11A) and Genetic Predisposition to Adrenocortical Tumors

Clinical cancer research, 2008-06, Vol.14 (12), p.4016-4024

2008

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Is IGSF1 involved in human pituitary tumor formation?

Endocrine-related cancer, 2015-02, Vol.22 (1), p.47-54

2015

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In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay

Human mutation, 2008-05, Vol.29 (5), p.633-639

2008

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Dysregulated metabolic pathways in age-related macular degeneration

Clinical and Molecular Genetics of the Phosphodiesterases (PDEs)

Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation

Exosomes containing HIV protein Nef reorganize lipid rafts potentiating inflammatory response in bystander cells

SCReadCounts: estimation of cell-level SNVs expression from scRNA-seq data

Alternative splicing promotes tumour aggressiveness and drug resistance in African American prostate cancer

Embryonic stem cell factor FOXD3 (Genesis) defects in gastrointestinal stromal tumors

scReQTL: an approach to correlate SNVs to gene expression from individual scRNA-seq datasets

Sex-dependent transcription of cardiac electrophysiology and links to acetylation modifiers based on the GTEx database

Prostate cancer cell-platelet bidirectional signaling promotes calcium mobilization, invasion and apoptotic resistance via distinct receptor-ligand pairs

Systematic pan-cancer analysis of somatic allele frequency

Identification of novel gene targets and functions of p21-activated kinase 1 during DNA damage by gene expression profiling

Selective disruption of trigeminal sensory neurogenesis and differentiation in a mouse model of 22q11.2 deletion syndrome

Evaluation of an angiotensin Type 1 receptor blocker on the reconsolidation of fear memory

Phosphodiesterase sequence variants may predispose to prostate cancer

Carney complex and lentiginosis

Genomic insights into triple-negative and HER2-positive breast cancers using isogenic model systems

Clinical and molecular genetics of acromegaly: MEN1, Carney complex, McCune–Albright syndrome, familial acromegaly and genetic defects in sporadic tumors

Estimating the Allele-Specific Expression of SNVs From 10× Genomics Single-Cell RNA-Sequencing Data

Deletions of the PRKAR1A Locus at 17q24.2-q24.3 in Carney Complex: Genotype-Phenotype Correlations and Implications for Genetic Testing

BRCA1 deficiency in mature CD8+ T lymphocytes impairs antitumor immunity

Activation of Cyclic AMP Signaling Leads to Different Pathway Alterations in Lesions of the Adrenal Cortex Caused by Germline PRKAR1A Defects versus Those due to Somatic GNAS Mutations

Phosphodiesterase 11A (PDE11A) and Genetic Predisposition to Adrenocortical Tumors

Is IGSF1 involved in human pituitary tumor formation?

In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay

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