Christopher N Hahn
A5059827972- Acute Myeloid Leukemia Research
- RNA modifications and cancer
- Cancer-related molecular mechanisms research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- MicroRNA in disease regulation
- Machine Learning in Bioinformatics
- Chronic Myeloid Leukemia Treatments
- Cancer Genomics and Diagnostics
- Acute Lymphoblastic Leukemia research
- Blood disorders and treatments
- Histone Deacetylase Inhibitors Research
- Epigenetics and DNA Methylation
- RNA Research and Splicing
- Chronic Lymphocytic Leukemia Research
- Sphingolipid Metabolism and Signaling
- Genomics and Rare Diseases
- Eosinophilic Disorders and Syndromes
- Immunodeficiency and Autoimmune Disorders
- Angiogenesis and VEGF in Cancer
- Hemoglobinopathies and Related Disorders
- DNA Repair Mechanisms
- Genetic factors in colorectal cancer
- Lung Cancer Treatments and Mutations
- Cell Adhesion Molecules Research
- Lymphoma Diagnosis and Treatment
South Australia Pathology
2016-2025
The University of Adelaide
2014-2024
Centre for Cancer Biology
2015-2024
University of South Australia
2015-2024
SUNY College of Environmental Science and Forestry
2024
Purchase College
2024
Hudson Institute
2021
Hanover College
2021
Hanson Institute
2004-2016
Brigham and Women's Hospital
2016
Heterozygous germline mutations in the zinc finger transcription factor GATA2 have recently been shown to underlie a range of clinical phenotypes, including Emberger syndrome, disorder characterized by lymphedema and predisposition myelodysplastic syndrome/acute myeloid leukemia (MDS/AML). Despite well-defined roles hematopoiesis, functions lymphatic vasculature mechanisms which result not characterized. Here, we provided molecular explanation for subset patients with mutations....
First reported in 1999, germline runt-related transcription factor 1 (RUNX1) mutations are a well-established cause of familial platelet disorder with predisposition to myeloid malignancy (FPD-MM). We present the clinical phenotypes and genetic detected 10 novel RUNX1-mutated FPD-MM families. Genomic analyses on these families 2 partial gene deletions, 3 mutations, 5 recurrent as RUNX1 alterations leading FPD-MM. Combining genomic data from herein aggregated published sets resulted 130...
Bilateral macronodular adrenal hyperplasia (BMAH) is a rare form of Cushing's syndrome. Familial cases have been reported, but at the time we conducted this study, genetic basis BMAH was unknown. Recently, germline variants armadillo repeat containing 5 (ARMC5) in patients with isolated and somatic, second-hit mutations tumor nodules, were identified. Our objective to identify familial BMAH. We performed whole exome capture sequencing 2 affected individuals from each 4 families (BMAH-01,...
Titanium (Ti) and its alloys are attractive for a wide variety of structural functional applications owing to excellent specific strength, toughness stiffness, corrosion resistance. However, if exposed hydrogen sources, these susceptible hydride formation in the form TiHx (0 < x ≤ 2), leading crack initiation mechanical failure due lattice deformation stress accumulation. The kinetics hydriding process depends on several factors, including critical saturation threshold within Ti, interaction...
Revised diagnostic criteria for myeloid neoplasms (MN) issued by the International Consensus Classification (ICC) and World Health Organization (WHO) recommended major change pertaining to TP53-mutated (TP53
Human GM1-gangliosidosis is caused by a genetic deficiency of lysosomal acid β-galactosidase (β-gal). The disease manifests itself either as an infantile, juvenile or adult form and primarily neurological disorder with progressive brain dysfunction. A mouse model lacking functional β-gal gene has been generated homologous recombination embryonic stem cell technology. Tissues from affected mice are devoid mRNA totally deficient in GM1-ganglioside-hydrolyzing capacity. Storage material was...
GATA2 deficiency syndrome (G2DS) is a rare autosomal dominant genetic disease predisposing to range of symptoms, which myeloid malignancy and immunodeficiency including recurrent infections are most common. In the last decade since it was first reported, there have been over 480 individuals identified carrying pathogenic or likely germline variant with symptoms G2DS, 240 these confirmed be familial 24 de novo. For those that develop (75% all carriers G2DS symptoms), median age onset 17 years...
There is increasing recognition that pathogenic germ line variants drive the development of hematopoietic cancers in many individuals. Currently, patients with hereditary hematologic malignancies (HHMs) receive similar standard therapies and stem cell transplant (HSCT) approaches as those sporadic disease. We hypothesize myeloid deleterious predisposition have different posttransplant outcomes than without such alleles. studied 472 neoplasms, whom 26% had 34% underwent HSCT. Deleterious...
Individuals with germ line variants associated hereditary hematopoietic malignancies (HHMs) have a highly variable risk for leukemogenesis. Gaps in our understanding of premalignant states HHMs hampered efforts to design effective clinical surveillance programs, provide personalized preemptive treatments, and inform appropriate counseling patients. We used the largest known comparative international cohort germline RUNX1, GATA2, or DDX41 variant carriers without (HMs) identify patterns...
Transcription of the CYP24 gene is induced by 1,25-(OH)2D3 through a vitamin D receptor-dependent process. The functional activities three possible response elements (VDREs), located on antisense strand rat promoter, were investigated transient expression native and mutant promoter constructs in COS-1, JTC-12, ROS 17/2.8 cells. A putative VDRE with half-site spacing 6 base pairs at −249/−232 (VDRE-3) did not contribute to although activity has been reported when element was fused...
Subject- Peroxisome proliferator-activated receptor (PPAR)-gamma agonists are emerging as potential protectors against inflammatory cardiovascular diseases including atherosclerosis and diabetic complications. However, their molecular mechanism of action within vasculature remains unclear. We report here that PPARgamma agonists, thiazolidinedione class drugs (TZDs), or 15-deoxy-Delta12,14-prostaglandin J2 (15d-PGJ2) were capable activating diacylglycerol (DAG) kinase (DGK), resulting in...
Background: The growth of solid tumors depends on establishing blood supply; thus, inhibiting tumor angiogenesis has been a long-term goal in cancer therapy. SOX18 transcription factor is key regulator murine and human vessel formation. Methods: We established allograft melanoma wild-type mice, Sox18-null mice expressing dominant-negative form Sox18 (Sox18RaOp) (n = 4 per group) measured microvessel density by immunohistochemical analysis with antibodies to the endothelial marker CD31...