A Case Report of a Special Type of Multiple Myeloma: Kappa Light Chain‐Only
Organ Medicine, EarlyView.This case illustrates the clinical course of a patient diagnosed with kappa light chain‐only multiple myeloma, a rare subtype of multiple myeloma. Of note, light chain multiple myeloma is characterized by rapid disease progression and severe target organ damage.
Yanhua Dai +8 more
wiley +1 more source
Identification of the novel c.149-8C>G splicing variant in RHCE*02 that weakens C antigen expression. [PDF]
TransfusionTournamille C +6 more
europepmc +1 more source
Genetic analysis of primary lung interdigitating dendritic cell sarcomas
The Journal of Pathology, EarlyView.Abstract Interdigitating dendritic cell sarcomas (IDCSs) are rare tumors that commonly arise in the hematopoietic system and rarely outside. The genetic drivers of IDCS carcinogenesis are unknown; therefore, therapeutic options are limited. We investigated somatic gene mutations and copy‐number alterations (CNAs) in nine IDCSs arising in the lung by ...
Mikhail S Ermakov +6 more
wiley +1 more source
Mutations in ribosomal protein uS5 alter translation fidelity and mutagenesis in <i>Pseudomonas putida</i>. [PDF]
J BacteriolJürgenstein K +5 more
europepmc +1 more source
Frameshift Mutagenesis in Salmonella
Cold Spring Harbor Symposia on Quantitative Biology, 1966 B N, Ames, H J, Whitfield
openaire +2 more sources
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis
Prenatal Diagnosis, EarlyView.ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell +6 more
wiley +1 more source
Lycorine Derivative Inhibits SARS-CoV-2 Replication by Reducing -1 Programmed Ribosomal Frameshifting via Targeting ZAP. [PDF]
MedComm (2020)Du T +11 more
europepmc +1 more source
Molecular characterization of porcine respiratory and reproductive syndrome virus (PRRSV), a member of the arterivirus group [PDF]
, 1993 Conzelmann, Karl-Klaus +3 more
core
A Framework for Bioinformatic Reporting in Prenatal Sequencing: Insights From a Systematic Review
Prenatal Diagnosis, EarlyView.ABSTRACT Genomic sequencing has become a key tool in the investigation of foetal anomalies, with a growing shift from targeted panels to exome and genome sequencing. These broader approaches generate significantly more data, underscoring the need for robust bioinformatics pipelines. However, practices vary widely between laboratories.
Ashley J. Pritchard +6 more
wiley +1 more source