Phenotype News and Research

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Scientists determine 5,072 essential human genes

In a recent study published in the journal Cell, researchers examined the phenotypic landscape of multiple elusive essential human genes to create a detailed genotype-phenotype resource outlining the phenotypic consequences of disrupting fundamental cellular processes.

8 Nov 2022

Study confirms the implication of Mib1 mutations in non-compaction cardiomyopathy

Non-compaction cardiomyopathy is a heart condition caused by defects that arise during fetal development and can have diverse health impacts in affected individuals, including sudden cardiac death.

7 Nov 2022

Accelerating Scientific Discoveries through Advanced Data Analysis Platforms

In this interview, we speak to Victor Wong, Chief Scientific Officer at Core Life Analytics, about their StratoMineRTM product and how it helps researchers to rapidly process their data.

From Core Life Analytics 3 Nov 2022

Single-nucleus RNA sequencing and spatial transcriptome atlas of COVID-19 livers

Researchers performed single-nucleus RNA sequencing (snRNA-seq) and spatial transcriptomic profiling of livers from deceased coronavirus disease 2019 (COVID-19) patients.

1 Nov 2022

Low-density granulocytes are phenotypically altered in people with long-COVID

In a recent study posted to the bioRxiv* preprint server, researchers characterized low-density granulocyte (LDG) neutrophil (NP) proportion among individuals up to 14 months post-SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) infection.

28 Oct 2022

Discovery points to a new understanding of Stargardt disease progression

Using a new stem-cell-based model made from skin cells, scientists found the first direct evidence that Stargardt-related ABCA4 gene mutations affect a layer of cells in the eye called the retinal pigment epithelium (RPE).

27 Oct 2022

Some healthcare workers vaccinated against COVID-19 show unexpectedly low responses to immunizations

A subset of healthcare workers vaccinated against COVID-19 had unexpectedly low responses to the immunizations, according to Cedars-Sinai investigators.

27 Oct 2022

Dog ownership during infancy might attenuate the risk of persistent wheezing

In a new study, researchers examined the gene-environment (GxE) interactions between pet ownership in infancy and the 17q12-21 (asthma-risk) locus concerning wheezing.

24 Oct 2022

Study indicates that the major determinants of SARS-CoV-2 pathogenicity reside outside of the spike protein

Researchers at Boston University made a chimeric recombinant SARS-CoV-2 encoding the spike glycoprotein gene of Omicron in the backbone of an ancestral SARS-CoV-2 isolate.

22 Oct 2022

Scientists develop human salivary gland organoids to test SARS-CoV-2 infectivity

In a recent study published in the journal Nature Cell Biology, researchers demonstrated the susceptibility of salivary glands to severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection in vitro using an organoid culture model.

20 Oct 2022

Scientists develop a pseudovirus system to deep mutational scan the full SARS-CoV-2 spike

A pseudovirus system based on deep mutational scanning determines how SARS-CoV-2 mutations can affect its ability to escape neutralization.

18 Oct 2022

Study explores the effect of COVID-19 on platelet function

A new study posted in the pre-print server bioRxiv* aimed to analyze the impact of COVID-19 on platelet proteome and relate the functional responses of platelets and the formation of platelet-neutrophil aggregate in hospitalized COVID-19 patients.

17 Oct 2022

How the COVID-19 pandemic affected pregnant women in Mexico

Researchers assess COVID-19-related fatality rates among pregnant women in Mexico.

17 Oct 2022

Investigating plasma signatures of platelet-derived proteins in acute pulmonary embolism

In a new study, researchers determined plasma signatures of proteins related to or derived from platelets in acute isolated pulmonary embolism (iPE) and deep vein thrombosis-associated PE (DVT-PE), compared to isolated DVT (iDVT).

17 Oct 2022

Researchers identify a previously unknown mitochondrial disease in identical twins

In a set of identical twins, investigators led by researchers at Massachusetts General Hospital (MGH) and Children's Hospital Philadelphia (CHOP) have identified a mitochondrial disease not previously reported.

14 Oct 2022

Mouse model reveals how RNA splicing defects contribute to neurodegeneration in Alzheimer's disease

Researchers have puzzled over the neurodegenerative disorder Alzheimer's disease for decades, but treatments to stop or reverse the disease's effects on the brain have remained elusive.

13 Oct 2022

Study finds memory B cell clones harbor the capacity to adopt multiple and functionally different fates in COVID-19 patients

Researchers examined single clones of SARS-CoV-2-specific memory B cells to understand their adaptability and fate.

13 Oct 2022

Age plays a more important role than genetics in affecting gene expression profiles as we get older

Amid much speculation and research about how our genetics affect the way we age, a University of California, Berkeley, study now shows that individual differences in our DNA matter less as we get older and become prone to diseases of aging, such as diabetes and cancer.

7 Oct 2022

NEI researchers create a high-resolution map of retinal cell chromatin contract points

National Eye Institute researchers mapped the organization of human retinal cell chromatin, the fibers that package 3 billion nucleotide-long DNA molecules into compact structures that fit into chromosomes within each cell's nucleus.

7 Oct 2022

Study using human and animal-derived cell lines suggests human origin of SARS-CoV-2 Omicron variant

Researchers examined the replicative capacity of seven SARS-CoV-2 isolates in 17 cell lines to understand their phenotypic variations and host range.

7 Oct 2022

Phenotype News and Research

Scientists determine 5,072 essential human genes

Study confirms the implication of Mib1 mutations in non-compaction cardiomyopathy

Accelerating Scientific Discoveries through Advanced Data Analysis Platforms

Single-nucleus RNA sequencing and spatial transcriptome atlas of COVID-19 livers

Low-density granulocytes are phenotypically altered in people with long-COVID

Discovery points to a new understanding of Stargardt disease progression

Some healthcare workers vaccinated against COVID-19 show unexpectedly low responses to immunizations

Dog ownership during infancy might attenuate the risk of persistent wheezing

Study indicates that the major determinants of SARS-CoV-2 pathogenicity reside outside of the spike protein

Scientists develop human salivary gland organoids to test SARS-CoV-2 infectivity

Scientists develop a pseudovirus system to deep mutational scan the full SARS-CoV-2 spike

Study explores the effect of COVID-19 on platelet function

How the COVID-19 pandemic affected pregnant women in Mexico

Investigating plasma signatures of platelet-derived proteins in acute pulmonary embolism

Researchers identify a previously unknown mitochondrial disease in identical twins

Mouse model reveals how RNA splicing defects contribute to neurodegeneration in Alzheimer's disease

Study finds memory B cell clones harbor the capacity to adopt multiple and functionally different fates in COVID-19 patients

Age plays a more important role than genetics in affecting gene expression profiles as we get older

NEI researchers create a high-resolution map of retinal cell chromatin contract points

Study using human and animal-derived cell lines suggests human origin of SARS-CoV-2 Omicron variant

Revolutionizing Life Science: An Interview with SCIEX on ASMS, the SCIEX 7500+ System, and AI-Driven Quantitation

From Discovery Biology to ELRIG Chair

Breathing New Life into Diagnostics: Plasmion's SICRIT Technology

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