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Midostaurin plus Chemotherapy for Acute Myeloid Leukemia with a FLT3 Mutation
TLDR
The addition of the multitargeted kinase inhibitor midostaurin to standard chemotherapy significantly prolonged overall and event‐free survival among patients with AML and a FLT3 mutation.
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.
TLDR
The results show that SMA is caused by insufficient SMN production by the SMN2 gene and that increased expression of the SMn2 gene may provide a strategy for treating SMA patients.
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).
TLDR
Routine molecular screening of patients with colorectal adenocarcinoma for the Lynch syndrome identified mutations in patients and their family members that otherwise would not have been detected.
Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.
TLDR
It is concluded that in central Ohio, at least 1.8% (95% confidence interval, 0.9-3.5%) of newly diagnosed endometrial cancer patients had Lynch syndrome, and a combination of MSI and immunohistochemical staining followed by gene sequencing and deletion analysis is feasible and may be desirable.
Feasibility of screening for Lynch syndrome among patients with colorectal cancer.
TLDR
One of every 35 patients with CRC has LS, and each has at least three relatives with LS; all of whom can benefit from increased cancer surveillance, but IHC is more readily available and helps to direct gene testing.
Single‐Dose Gene‐Replacement Therapy for Spinal Muscular Atrophy
TLDR
In patients with SMA1, a single intravenous infusion of adenoviral vector containing DNA coding for SMN resulted in longer survival, superior achievement of motor milestones, and better motor function than in historical cohorts.
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.
TLDR
This study completely sequenced and compared genomic clones containing the SMN genes and suggests that the exon 7 nucleotide change affects the activity of an exon splice enhancer which causes SMA.
The survival motor neuron protein in spinal muscular atrophy.
TLDR
Investigation of fibroblasts from SMA patients with various clinical severities of SMA showed a moderate reduction in the amount of SMN protein, particularly in type I (most severe) patients, which is consistent with features of this motor neuron disease.
Natural history of denervation in SMA: Relation to age, SMN2 copy number, and function
Denervation was assessed in 89 spinal muscular atrophy (SMA) 1, 2, and 3 subjects via motor unit number estimation (MUNE) and maximum compound motor action potential amplitude (CMAP) studies, and
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.
TLDR
A quantitative PCR assay is developed for the determination of SMNT and SMNC gene-copy number and demonstrates how risk estimates for the diagnosis and detection of SMA carriers can be modified by the accurate determination ofSMNT copy number.
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