Michael Trinh
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View article: ETNK1 mutations define a distinct subset of myeloid neoplasms with unique cytogenetic and molecular features
ETNK1 mutations define a distinct subset of myeloid neoplasms with unique cytogenetic and molecular features Open
Background: Mutations in ethanolamine kinase-1 (ETNK1) have been identified in a wide range of myeloid neoplasms (MN), but their clinical significance remains poorly defined. Key gaps remain, including the true prevalence, variant- and dis…
View article: Interrogation of Interfering Factors in <scp>ELISA</scp> Detecting Angiotensin Receptor Antibodies and Specificity Validation Using the Adsorption Elution Crossmatch (<scp>AXE</scp>) Technique
Interrogation of Interfering Factors in <span>ELISA</span> Detecting Angiotensin Receptor Antibodies and Specificity Validation Using the Adsorption Elution Crossmatch (<span>AXE</span>) Technique Open
Accurate detection of HLAs and non‐HLA antigens is critical for managing long‐term allograft transplantation, particularly in the context of hyperacute, acute, and chronic allograft rejection. Recent studies have identified the role of non…
View article: “Incidentally” discovered Von Hippel Lindau disease: an emerging clinical phenotype
“Incidentally” discovered Von Hippel Lindau disease: an emerging clinical phenotype Open
Increasing accessibility to genetic screening for cancer risk can lead to earlier surveillance and prevention, but with this comes the caveat of incidental identification of germline pathogenic gene variants. Here, we report a single insti…
View article: Loss of Negative Metabolic Feedback Drives <i>TET2</i> Mutant Inflammation
Loss of Negative Metabolic Feedback Drives <i>TET2</i> Mutant Inflammation Open
TET2 mutations are clinically significant mutations in clonal hematopoiesis of indeterminate potential (CHIP) and myeloid malignancies driving inflammation and clonal progression, but the underlying mechanism of how TET2 loss leads to thes…
View article: Exome wide association study for blood lipids in 1,158,017 individuals from diverse populations
Exome wide association study for blood lipids in 1,158,017 individuals from diverse populations Open
Rare coding alleles play crucial roles in the molecular diagnosis of genetic diseases. However, the systemic identification of these alleles has been challenging due to their scarcity in the general population. Here, we discovered and char…
View article: Programmable RNA-guided endonucleases are widespread in eukaryotes and their viruses
Programmable RNA-guided endonucleases are widespread in eukaryotes and their viruses Open
TnpB proteins are RNA-guided nucleases that are broadly associated with IS200/605 family transposons in prokaryotes. TnpB homologs, named Fanzors, have been detected in genomes of some eukaryotes and large viruses, but their activity and f…
View article: Multicenter Validation of a Urine CXCL10 Assay for Noninvasive Monitoring of Renal Transplants
Multicenter Validation of a Urine CXCL10 Assay for Noninvasive Monitoring of Renal Transplants Open
Background. Urine CXCL10 (C-X-C motif chemokine ligand 10, interferon gamma-induced protein 10 [IP10]) outperforms standard-of-care monitoring for detecting subclinical and early clinical T-cell–mediated rejection (TCMR) and may advance TC…
View article: Sequencing and Detection of Two Missense Variants at Chromosome 7 as Potential Azole Resistance Markers in Saccharomyces Cerevisiae
Sequencing and Detection of Two Missense Variants at Chromosome 7 as Potential Azole Resistance Markers in Saccharomyces Cerevisiae Open
Introduction: Widespread practices of over-prescribing antibiotic, antiviral, and antifungal drugs have sparked concern over the risk of antimicrobial resistance arising in bacterial, viral, and fungal pathogens. This risk threatens to jeo…
View article: Interplay between Asters/GRAMD1s and phosphatidylserine in intermembrane transport of LDL cholesterol
Interplay between Asters/GRAMD1s and phosphatidylserine in intermembrane transport of LDL cholesterol Open
Significance Cholesterol constitutes 50% of lipids in the plasma membrane (PM) of animal cells. Sensors in the endoplasmic reticulum (ER) maintain this level by adjusting cholesterol uptake, synthesis, and storage. Uptake is mediated by LD…
View article: Sequencing and Detection of Two Missense Variants at Chromosome 7 as Potential Azole Resistance Markers in Saccharomyces Cerevisiae
Sequencing and Detection of Two Missense Variants at Chromosome 7 as Potential Azole Resistance Markers in Saccharomyces Cerevisiae Open
Introduction: Widespread practices of over-prescribing antibiotic, antiviral, and antifungal drugs have sparked concern over the risk of antimicrobial resistance arising in bacterial, viral, and fungal pathogens. This risk threatens to jeo…
View article: Last step in the path of LDL cholesterol from lysosome to plasma membrane to ER is governed by phosphatidylserine
Last step in the path of LDL cholesterol from lysosome to plasma membrane to ER is governed by phosphatidylserine Open
Significance Feedback control of cholesterol metabolism is essential for cell viability and prevention of heart attacks. Cells acquire cholesterol from receptor-mediated uptake of low-density lipoprotein, which delivers cholesterol to lyso…
View article: Lysosomal cholesterol export reconstituted from fragments of Niemann-Pick C1
Lysosomal cholesterol export reconstituted from fragments of Niemann-Pick C1 Open
Niemann-Pick C1 (NPC1) is a polytopic membrane protein with 13 transmembrane helices that exports LDL-derived cholesterol from lysosomes by carrying it through the 80 Å glycocalyx and the 40 Å lipid bilayer. Transport begins when cholester…
View article: Author response: Lysosomal cholesterol export reconstituted from fragments of Niemann-Pick C1
Author response: Lysosomal cholesterol export reconstituted from fragments of Niemann-Pick C1 Open
Article Figures and data Abstract Introduction Results Discussion Materials and methods Data availability References Decision letter Author response Article and author information Metrics Abstract Niemann-Pick C1 (NPC1) is a polytopic memb…
View article: 3.3 Å structure of Niemann–Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport
3.3 Å structure of Niemann–Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport Open
Significance The Niemann–Pick C1 (NPC1) protein is responsible for transporting LDL-derived cholesterol out of late endosomes. Mutations in NPC1 lead to the fatal Niemann–Pick Type C disease. We present here an improved structure of an NPC…
View article: Triazoles inhibit cholesterol export from lysosomes by binding to NPC1
Triazoles inhibit cholesterol export from lysosomes by binding to NPC1 Open
Significance In animal cells, cholesterol is essential for the assembly of membranes and production of steroid hormones and bile acids. Cells obtain cholesterol through receptor-mediated endocytosis of LDL into lysosomes. After lysosomal d…