Blood disorders and treatments

Cytopenias and Functional Defects in a Novel Murine Model of VPS45 Severe Congenital Neutropenia

This paper develops a mouse model of severe congenital neutropenia caused by VPS45 mutations, showing similar neutropenia and functional defects as in humans.

Hog1/p38 and ZAKα drive Shwachman-Diamond syndrome and provide targets to improve cell growth

This study identifies Hog1/p38 and ZAKα as drivers of Shwachman-Diamond syndrome and shows their inhibition can restore cell growth in SDS models.

Multi-lineage natural gene therapy mediated by embryonic triploid mosaicism in the context of Fanconi anaemia

A patient with Fanconi anemia developed triploid hematopoietic stem cells that lacked the disease phenotype, enabling sustained hematopoiesis through restored DNA repair.

A lipid metabolism defect is an underlying contributor to Diamond Blackfan anemia syndrome

The paper identifies a lipid metabolism defect as a contributor to variable anemia in Diamond Blackfan anemia syndrome using a murine model and transcriptomic analysis.

Inhibition of NLRP1 Inflammasome Activation by Tyrosine Kinase Inhibitors Restores Erythropoiesis in Diamond-Blackfan Anemia Syndrome

This study shows that tyrosine kinase inhibitors can restore erythropoiesis in Diamond-Blackfan Anemia by inhibiting NLRP1 inflammasome activation.

Clinical and Genetic Spectrum of Fanconi Anaemia in Australia and New Zealand.

This study investigates the clinical and genetic spectrum of Fanconi anaemia in Australia and New Zealand, finding a correlation between testing rates and case detection, and highlighting increased susceptibility to HNSCC.

A scalable genetic tool for the functional analysis of the signal recognition particle.

This paper develops a yeast haploid model to study SRP54 mutations and their functional consequences, revealing dominant-negative phenotypes and growth defects associated with specific mutations.

Aggressive periodontitis with neutropenia caused by MMD2 mutation

The paper identifies a MMD2 mutation causing aggressive periodontitis and neutropenia in a Japanese family, showing impaired granulocyte differentiation and immune function.