Search
Search Results
-
Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis
PurposeRecently, a new form of congenital neutropenia that is caused by germline biallelic loss-of-function mutations in the SMARCD2 gene was...
-
In vivo screening characterizes chromatin factor functions during normal and malignant hematopoiesis
Cellular differentiation requires extensive alterations in chromatin structure and function, which is elicited by the coordinated action of chromatin...
-
A Novel CEBPE Variant Causes Severe Infections and Profound Neutropenia
PurposeSpecific granule deficiency (SGD) is a rare inborn error of immunity resulting from loss-of-function variants in CEBPE gene (encoding for...
-
SWI/SNF complexes in hematological malignancies: biological implications and therapeutic opportunities
Hematological malignancies are a highly heterogeneous group of diseases with varied molecular and phenotypical characteristics. SWI/SNF...
-
Epigenetic reprogramming of CAR T cells for in vivo functional persistence against solid tumors
Limited CAR T-cell expansion and persistence hinder therapeutic responses in solid cancer patients. To enhance the functional persistence of...
-
Outcome of Second Allogeneic HSCT for Patients with Inborn Errors of Immunity: Retrospective Study of 20 Years’ Experience
A significant complication of HSCT is graft failure, although few studies focus on this problem in patients with inborn errors of immunity (IE). We...
-
Genetic Syndromes with Associated Immunodeficiencies
Several genetic syndromes that feature prominent non-immune system problems can be associated with immunodeficiency. These disorders are sometimes...
-
Current Insights into Signature MicroRNA Networks and Signal Transduction in Osteosarcoma
Purpose of ReviewOsteosarcoma is one of the most common types of primary bone tumors that mainly occurs in children and adolescents. It is...
-
-
SOX4 and SMARCA4 cooperatively regulate PI3k signaling through transcriptional activation of TGFBR2
Dysregulation of PI3K/Akt signaling is a dominant feature in basal-like or triple-negative breast cancers (TNBC). However, the mechanisms regulating...
-
Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes
We identify SMARCD2 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 2), also known as BAF60b...
-
Context-specific functions of chromatin remodellers in development and disease
Chromatin remodellers were once thought to be highly redundant and nonspecific in their actions. However, recent human genetic studies demonstrate...
-
Malignancies in Inborn Errors of Immunity
Inborn errors of immunity (IEI), also known as primary immunodeficiencies (PIDs), are heterogeneous group of genetic disorders with various clinical...
-
SMARCD2 subunit of SWI/SNF chromatin-remodeling complexes mediates granulopoiesis through a CEBPɛ dependent mechanism
Recent studies suggest that individual subunits of chromatin-remodeling complexes produce biologically specific meaning in different cell types...
-
Connecting DCX, COMT and FMR1 in social behavior and cognitive impairment
Genetic variants of DCX , COMT and FMR1 have been linked to neurodevelopmental disorders related to intellectual disability and social behavior. In...
-
Ganglioglioma deep transcriptomics reveals primitive neuroectoderm neural precursor-like population
Gangliogliomas are brain tumors composed of neuron-like and macroglia-like components that occur in children and young adults. Gangliogliomas are...
-
High-sensitivity whole-mount in situ Hybridization of Mouse Oocytes and Embryos Visualizes the Super-resolution Structures and Distributions of mRNA Molecules
Mammalian oocytes accumulate more than ten thousand mRNAs, of which three to four thousand mRNAs are translationally repressed. The timings and sites...
-
The clinical utility of rapid exome sequencing in a consanguineous population
BackgroundThe clinical utility of exome sequencing is now well documented. Rapid exome sequencing (RES) is more resource-intensive than regular exome...
-
-
Congenital Neutropenia and Migration Defects
Congenital conditions caused by an absolute or functional deficiency of neutrophils are associated with considerable morbidity and mortality in...