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UnknownHypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.

Background

Recurrent bacterial and fungal infections, eczema, and increased serum IgE levels characterize patients with the hyper-IgE syndrome (HIES). Known genetic causes for HIES are mutations in signal transducer and activator of transcription 3 (STAT3) and dedicator of cytokinesis 8 (DOC...
S-EPMC4825677 | biostudies-literature
UnknownOutcomes of SARS-CoV-2 infected pregancies after medically assisted reproduction.

Study question

What is the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection on the outcome of a pregnancy after medically assisted reproduction (MAR)?

Summary answer

Our results suggest that MAR pregnancies are not differentially affected by SARS-CoV-2 ...
S-EPMC8523208 | biostudies-literature
UnknownProtecting stable biological nomenclatural systems enables universal communication: A collective international appeal.
The fundamental value of universal nomenclatural systems in biology is that they enable unambiguous scientific communication. However, the stability of these systems is threatened by recent discussions asking for a fairer nomenclature, raising the possibility of bulk revision processes for "inapprop...
S-EPMC11328142 | biostudies-literature
UnknownThe tale of TILs in breast cancer: A report from The International Immuno-Oncology Biomarker Working Group.
The advent of immune-checkpoint inhibitors (ICI) in modern oncology has significantly improved survival in several cancer settings. A subgroup of women with breast cancer (BC) has immunogenic infiltration of lymphocytes with expression of programmed death-ligand 1 (PD-L1). These patients may potenti...
S-EPMC8636568 | biostudies-literature
UnknownEnhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Purpose

Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical...
S-EPMC7790744 | biostudies-literature
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