Associated Papers
Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.
Zibetti C
International Journal of Molecular Sciences, 2025
Phenotypic expression of rare progressive cardiac conduction disease variants in the general population.
Shah RA et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2025
Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.
Valentine H et al.
Cancer Research Communications, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Discovering Genotype Variants in an Infant with VACTERL through Clinical Exome Sequencing: A Support for Personalized Risk Assessment and Disease Prevention.
Pelizzo G et al.
Pediatric Reports, 2021
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
Genomic imbalances defining novel intellectual disability associated loci.
Lopes F et al.
Orphanet Journal of Rare Diseases, 2019
Single nucleotide polymorphisms alter kinase anchoring and the subcellular targeting of A-kinase anchoring proteins.
Smith FD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Exome sequencing of primary breast cancers with paired metastatic lesions reveals metastasis-enriched mutations in the A-kinase anchoring protein family (AKAPs).
Kjällquist U et al.
Bmc Cancer, 2018
Polymorphisms/Mutations in A-Kinase Anchoring Proteins (AKAPs): Role in the Cardiovascular System.
Suryavanshi SV et al.
Journal of Cardiovascular Development and Disease, 2018
Predisposition of functional genetic variants of A-kinase anchoring protein 10 toward acquired repolarization disorders in high-risk vascular surgery patients.
Biernawska J et al.
Therapeutics and Clinical Risk Management, 2018
Genetic association of AKAP10 gene polymorphism with reduced risk of preterm birth.
Langmia IM et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2015
Association of functional genetic variants of A-kinase anchoring protein 10 with QT interval length in full-term Polish newborns.
Łoniewska B et al.
Archives of Medical Science : Ams, 2015
Genetic score based on high-risk genetic polymorphisms and early onset of ischemic heart disease in an Italian cohort of ischemic patients.
Vecoli C et al.
Thrombosis Research, 2014
Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.
Szeto CY et al.
Febs Open Bio, 2014
Polymorphism 1936A > G in the AKAP10 gene (encoding A-kinase-anchoring protein 10) is associated with higher cholesterol cord blood concentration in Polish full-term newsborns.
Łoniewska B et al.
Journal of Perinatal Medicine, 2013
Association of 1936A > G in AKAP10 (A-kinase anchoring protein 10) and blood pressure in Polish full-term newborns.
Łoniewska B et al.
Blood Pressure, 2013
Polymorphisms of glucose-regulated protein 78 and risk of colorectal cancer: a case-control study in southwest China.
Zhang D et al.
Plos One, 2013
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
Sequencing and analysis of a South Asian-Indian personal genome.
Gupta R et al.
Bmc Genomics, 2012
Possible counter effect in newborns of 1936A>G (I646V) polymorphism in the AKAP10 gene encoding A-kinase-anchoring protein 10.
Łoniewska B et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2012
Association of a matrix metallopeptidase 1 gene polymorphism with long-term outcome of thoracic aortic aneurysm.
Kato K et al.
International Journal of Molecular Medicine, 2012
1936A→G (I646 V) polymorphism in the AKAP10 gene encoding A-kinase-anchoring protein 10 in very long-lived poles is similar to that in newborns.
Łoniewska B et al.
Experimental Aging Research, 2012
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.
Zhang G et al.
Human Mutation, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Association of the A1936G (rs203462) of A-kinase anchoring protein 10 polymorphisms with QT interval prolongation during kidney transplantation.
Zukowski M et al.
Transplantation Proceedings, 2009
Genetically determined differences in sodium current characteristics modulate conduction disease severity in mice with cardiac sodium channelopathy.
Remme CA et al.
Circulation Research, 2009
Association of polymorphisms of SORBS1, GCK and WISP1 with hypertension in community-dwelling Japanese individuals.
Yamada Y et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2009
AKAP10 (I646V) functional polymorphism predicts heart rate and heart rate variability in apparently healthy, middle-aged European-Americans.
Neumann SA et al.
Psychophysiology, 2009
The Ile646Val (2073A>G) polymorphism in the kinase-binding domain of A-kinase anchoring protein 10 and the risk of colorectal cancer.
Wang MJ et al.
Oncology, 2009
Assessment of genetic risk factors for thoracic aortic aneurysm in hypertensive patients.
Kato K et al.
American Journal of Hypertension, 2008
Polymorphisms in multiple genes are associated with resting heart rate in a stepwise allele-dependent manner.
Wilton SB et al.
Heart Rhythm, 2008
Association of gene polymorphisms with myocardial infarction in individuals with different lipid profiles.
Yoshida T et al.
International Journal of Molecular Medicine, 2007
Gender differences in the association of gene polymorphisms with type 2 diabetes mellitus.
Yamaguchi S et al.
International Journal of Molecular Medicine, 2007
The functional genetic variant Ile646Val located in the kinase binding domain of the A-kinase anchoring protein 10 is associated with familial breast cancer.
Wirtenberger M et al.
Carcinogenesis, 2007
Genetic risk for atherothrombotic cerebral infarction in individuals stratified by sex or conventional risk factors for atherosclerosis.
Yamaguchi S et al.
International Journal of Molecular Medicine, 2006
Assessment of genetic factors for type 2 diabetes mellitus.
Yamada Y et al.
International Journal of Molecular Medicine, 2006
Amino acid variant in the kinase binding domain of dual-specific A kinase-anchoring protein 2: a disease susceptibility polymorphism.
Kammerer S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2003
Susceptibility to breast cancer: hereditary syndromes and low penetrance genes.
Nusbaum R et al.
Breast Disease, 0
Association of a polymorphism of BCHE with ischemic stroke in Japanese individuals with chronic kidney disease.
Oguri M et al.
Molecular Medicine Reports, 0
Centenarian Exomes as a Tool for Evaluating the Clinical Relevance of Germline Tumor Suppressor Mutations.
Balabanski L et al.
Technology in Cancer Research & Treatment, 0