The status of the human gene catalogue

P Amaral, S Carbonell-Sala, FM De La Vega, T Faial… - Nature, 2023 - nature.com
Scientists have been trying to identify every gene in the human genome since the initial draft
was published in 2001. In the years since, much progress has been made in identifying …

MDSC in mice and men: mechanisms of immunosuppression in cancer

C Vanhaver, P van der Bruggen, AM Bruger - Journal of clinical medicine, 2021 - mdpi.com
Myeloid-derived suppressor cells (MDSCs) expand during pathological conditions in both
humans and mice and their presence is linked to poor clinical outcomes for cancer patients …

Targeted single-cell RNA sequencing of transcription factors enhances the identification of cell types and trajectories

A Pokhilko, AE Handel, F Curion, V Volpato… - Genome …, 2021 - genome.cshlp.org
Single-cell RNA sequencing (scRNA-seq) is a widely used method for identifying cell types
and trajectories in biologically heterogeneous samples, but it is limited in its detection and …

Determining clinical course of diffuse large B-cell lymphoma using targeted transcriptome and machine learning algorithms

M Albitar, H Zhang, A Goy, ZY Xu-Monette… - Blood cancer …, 2022 - nature.com
Multiple studies have demonstrated that diffuse large B-cell lymphoma (DLBCL) can be
divided into subgroups based on their biology; however, these biological subgroups overlap …

Deciphering tumor cell evolution in cutaneous T-cell lymphomas: distinct differentiation trajectories in mycosis fungoides and Sézary syndrome

TT Jiang, S Cao, O Kruglov, A Virmani… - Journal of Investigative …, 2024 - Elsevier
Cutaneous T-cell lymphomas are a heterogeneous group of neoplasms originating in the
skin, with mycosis fungoides (MF) and Sézary syndrome (SS) representing the most …

Sbk2, a newly discovered atrium-enriched regulator of sarcomere integrity

PRR van Gorp, J Zhang, J Liu, R Tsonaka… - Circulation …, 2022 - Am Heart Assoc
Background: Heart development relies on tight spatiotemporal control of cardiac gene
expression. Genes involved in this intricate process have been identified using animals and …

A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis

F Sakura, K Noma, T Asano, K Tanita, E Toyofuku… - PNAS …, 2023 - academic.oup.com
Advances in next-generation sequencing technology have identified many genes
responsible for inborn errors of immunity (IEI). However, there is still room for improvement …

Role of long noncoding RNAs in diabetes-associated peripheral arterial disease

A Tapia, X Liu, NK Malhi, D Yuan, M Chen… - Cardiovascular …, 2024 - Springer
Diabetes mellitus (DM) is a metabolic disease that heightens the risks of many vascular
complications, including peripheral arterial disease (PAD). Various types of cells, including …

Current genetic diagnostics in inborn errors of immunity

S von Hardenberg, I Klefenz, D Steinemann… - Frontiers in …, 2024 - frontiersin.org
New technologies in genetic diagnostics have revolutionized the understanding and
management of rare diseases. This review highlights the significant advances and latest …

[PDF][PDF] Parallel DNA/RNA NGS Using an Identical Target Enrichment Panel in the Analysis of Hereditary Cancer Predisposition.

P Kleiblová, M Černá, P Zemánková… - Folia Biologica …, 2024 - foliabiologica.lf1.cuni.cz
Germline DNA testing using the next-generation sequencing (NGS) technology has become
the analytical standard for the diagnostics of hereditary diseases, including cancer. Its …