Andrew A. Hicks
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View article: Protocol for recording of neural activity in 3D midbrain organoids using a multiple-electrode array
Protocol for recording of neural activity in 3D midbrain organoids using a multiple-electrode array Open
View article: The complete genome sequence of the cluster BE1 <i>Streptomyces Bacteriophage Riptide</i> includes genes encoding ribosome-associated proteins
The complete genome sequence of the cluster BE1 <i>Streptomyces Bacteriophage Riptide</i> includes genes encoding ribosome-associated proteins Open
This study isolated bacteriophage Riptide , a BE1 cluster siphovirus, from soil using Streptomyces mirabilis NRRL B-2400. Riptide follows a lytic life cycle contains a genome length of 132,142 bp encoding 236 protein coding genes including…
View article: Large-scale copy number variant analysis in genes linked to Parkinson´s disease
Large-scale copy number variant analysis in genes linked to Parkinson´s disease Open
View article: Complete genome sequences of <i>Streptomyces</i> phages HazuAndZazu and Tubberson
Complete genome sequences of <i>Streptomyces</i> phages HazuAndZazu and Tubberson Open
Bacteriophages HazuAndZazu and Tubberson, belonging to the BI1 and BC1 subclusters, are Caudoviricetes with a siphoviral morphology that infect Streptomyces species. They have GC contents of 59.5% and 71.5%, and genomes 55,823 and 39,028 b…
View article: Cohort Profile: the Cooperative Health Research in South Tyrol study
Cohort Profile: the Cooperative Health Research in South Tyrol study Open
Key Features
View article: All-cause mortality and neighborhood social vulnerability among women with ovarian cancer
All-cause mortality and neighborhood social vulnerability among women with ovarian cancer Open
View article: An improved polygenic score for Parkinson’s disease partly explains variable penetrance of genetic Parkinson’s disease
An improved polygenic score for Parkinson’s disease partly explains variable penetrance of genetic Parkinson’s disease Open
While genetic causes are identified in up to 15% of all Parkinson’s disease (PD) patients, the remaining idiopathic PD (iPD) patients are attributed to polygenic risk, environmental and lifestyle factors, and interactions thereof. We appli…
View article: How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study
How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study Open
Recall-by-genotype (RbG) is a bottom-up approach using existing genetic data to design follow-up stratified studies. Genetic information may be partially disclosed at invitation, thus raising ethical issues which call for defined best prac…
View article: Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits Open
View article: Stomatin-like protein 2 senses oxidative stress through the interaction with phosphatidic acid to promote mitochondrial unfolded protein response
Stomatin-like protein 2 senses oxidative stress through the interaction with phosphatidic acid to promote mitochondrial unfolded protein response Open
The mitochondrial unfolded protein response (mtUPR) is an essential mechanism that maintains mitochondrial fitness during stress. Using a genetic screen in Caenorhabditis elegans looking for regulators of the mtUPR, we identified stl-1 , a…
View article: Prioritization of Kidney Cell Types Highlights Myofibroblast Cells in Regulating Human Blood Pressure
Prioritization of Kidney Cell Types Highlights Myofibroblast Cells in Regulating Human Blood Pressure Open
Our findings provide a solid basis for follow-up studies to further identify genes and mechanisms in myofibroblast cells that underlie the regulation of BP.
View article: Genome-wide association study identifies novel loci for type 2 diabetes-Attributed end-stage kidney disease in African Americans
Genome-wide association study identifies novel loci for type 2 diabetes-Attributed end-stage kidney disease in African Americans Open
Background: End-stage kidney disease (ESKD) is a significant public health concern disproportionately affecting African Americans (AAs). Type 2 diabetes (T2D) is the leading cause of ESKD in the USA, and efforts to uncover genetic suscepti…
View article: NFAT5 and SLC4A10 loci associate with plasma osmolality
NFAT5 and SLC4A10 loci associate with plasma osmolality Open
Disorders of water balance, an excess or deficit of total body water relative to body electrolyte content, are common and ascertained by plasma hypo- or hypernatremia, respectively. We performed a two-stage genome-wide association study me…
View article: Hypoxia Sensing and Responses in Parkinson’s Disease
Hypoxia Sensing and Responses in Parkinson’s Disease Open
Parkinson’s disease (PD) is associated with various deficits in sensing and responding to reductions in oxygen availability (hypoxia). Here we summarize the evidence pointing to a central role of hypoxia in PD, discuss the relation of hypo…
View article: Nuclear and mitochondrial genetic variants associated with mitochondrial DNA copy number
Nuclear and mitochondrial genetic variants associated with mitochondrial DNA copy number Open
Mitochondrial DNA copy number (mtDNA-CN) is a biomarker for mitochondrial dysfunction associated with several diseases. Previous genome-wide association studies (GWAS) have been performed to unravel underlying mechanisms of mtDNA-CN regula…
View article: Intracellular delivery of Parkin-RING0-based fragments corrects Parkin-induced mitochondrial dysfunction through interaction with SLP-2
Intracellular delivery of Parkin-RING0-based fragments corrects Parkin-induced mitochondrial dysfunction through interaction with SLP-2 Open
Background Loss-of-function mutations in the PRKN gene, encoding Parkin, are the most common cause of autosomal recessive Parkinson’s disease (PD). We have previously identified mitoch ondrial Stomatin-like protein 2 (SLP-2), which functio…
View article: Fluorescent reporter of Caenorhabditis elegans Parkin: Regulators of its abundance and role in autophagy-lysosomal dynamics
Fluorescent reporter of Caenorhabditis elegans Parkin: Regulators of its abundance and role in autophagy-lysosomal dynamics Open
Background: Parkin, which when mutated leads to early-onset Parkinson’s disease, acts as an E3 ubiquitin ligase. How Parkin is regulated for selective protein and organelle targeting is not well understood. Here, we used protein interactor…
View article: Antithrombin, Protein C, and Protein S: Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels
Antithrombin, Protein C, and Protein S: Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels Open
Background: Antithrombin, PC (protein C), and PS (protein S) are circulating natural anticoagulant proteins that regulate hemostasis and of which partial deficiencies are causes of venous thromboembolism. Previous genetic association studi…
View article: Molecular phenotypes of mitochondrial dysfunction in clinically non-manifesting heterozygous PRKN variant carriers
Molecular phenotypes of mitochondrial dysfunction in clinically non-manifesting heterozygous PRKN variant carriers Open
Homozygous or compound heterozygous (biallelic) variants in PRKN are causal for PD with highly penetrant symptom expression, while the much more common heterozygous variants may predispose to PD with highly reduced penetrance, through alte…
View article: The small GTPase Rit2 modulates LRRK2 kinase activity, is required for lysosomal function and protects against alpha-synuclein neuropathology
The small GTPase Rit2 modulates LRRK2 kinase activity, is required for lysosomal function and protects against alpha-synuclein neuropathology Open
View article: Role of Ceramides and Sphingolipids in Parkinson's Disease
Role of Ceramides and Sphingolipids in Parkinson's Disease Open
Sphingolipids, including the basic ceramide, are a subset of bioactive lipids that consist of many different species. Sphingolipids are indispensable for proper neuronal function, and an increasing number of studies have emerged on the com…
View article: Increased Levels of the Parkinson’s Disease-Associated Gene ITPKB Correlate with Higher Expression Levels of α-Synuclein, Independent of Mutation Status
Increased Levels of the Parkinson’s Disease-Associated Gene ITPKB Correlate with Higher Expression Levels of α-Synuclein, Independent of Mutation Status Open
Autosomal dominant mutations in the gene encoding α-synuclein (SNCA) were the first to be linked with hereditary Parkinson’s disease (PD). Duplication and triplication of SNCA has been observed in PD patients, together with mutations at th…
View article: Participant perspective on the recall-by-genotype research approach: a mixed-method embedded study with participants of the CHRIS study
Participant perspective on the recall-by-genotype research approach: a mixed-method embedded study with participants of the CHRIS study Open
View article: Genome-wide association study reveals loci with sex-specific effects on plasma bile acids
Genome-wide association study reveals loci with sex-specific effects on plasma bile acids Open
Bile acids are essential for food digestion and nutrient absorption, but also act as signalling molecules involved in hepatobiliary diseases, gastrointestinal disorders and carcinogenesis. While many studies have focused on the genetic det…
View article: Mitochondrial DNA heteroplasmy distinguishes disease manifestation in <i>PINK1</i> / <i>PRKN-</i> linked Parkinson’s disease
Mitochondrial DNA heteroplasmy distinguishes disease manifestation in <i>PINK1</i> / <i>PRKN-</i> linked Parkinson’s disease Open
Biallelic mutations in PINK1/PRKN cause recessive Parkinson’s disease. Given the established role of PINK1/Parkin in regulating mitochondrial dynamics, we explored mitochondrial DNA integrity and inflammation as disease modifiers in carrie…
View article: Antithrombin, protein C and protein S: Genome and transcriptome wide association studies identify 7 novel loci regulating plasma levels
Antithrombin, protein C and protein S: Genome and transcriptome wide association studies identify 7 novel loci regulating plasma levels Open
Objective Antithrombin, protein C (PC) and protein S (PS) are circulating natural-anticoagulant proteins that regulate hemostasis and of which partial deficiencies are causes of venous thromboembolism. Previous genetic association studies …
View article: Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene
Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene Open
Mutations in the SZT2 gene have been associated with developmental and epileptic encephalopathy-18, a rare severe autosomal recessive neurologic disorder, characterized by psychomotor impairment/intellectual disability, dysmorphic facial f…
View article: Auditing the Prescription Drug Consumer Price Index in a Changing Marketplace
Auditing the Prescription Drug Consumer Price Index in a Changing Marketplace Open
View article: Pain sensitivity is modulated by affective temperament: Results from the population-based CHRIS Affective Disorder (CHRIS-AD) study
Pain sensitivity is modulated by affective temperament: Results from the population-based CHRIS Affective Disorder (CHRIS-AD) study Open
These findings support the hypothesis of a biological dichotomous diathesis of affective temperaments towards pain sensitivity; hyperthymic suggesting protection, whereas cyclothymic suggesting predisposition.
View article: Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals Open