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Amplification of the inflammation-responsive RNA editase adenosine deaminase acting on RNA (ADAR)1 gene is associated with reduced survival in multiple myeloma

Multiple Myeloma Survival Down With High ADAR1 RNA Expression

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ADAR1 knockdown reduces regeneration of high-risk multiple myeloma in patient-derived xenografts
SERPINA1 DNA sequencing can identify alpha-1 antitrypsin deficiency

DNA Sequencing Identifies Alpha-1 Antitrypsin Deficiency

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Six rare mutations identified in seven subjects that would not have been uncovered without sequencing
A new approach to gene therapy can restore immune cell types in infants with newly diagnosed X-linked severe combined immunodeficiency

ASH: New Approach to Gene Tx Restores Immune Cells in X-SCID

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Efficient vector marking in bone marrow CD34+ cells, myeloid cells, B cells in newly diagnosed SCID
For men with hemophilia B who have factor IX coagulant activity of 2 percent or less of normal value

Gene Therapy Shows Beneficial Effect in Men With Hemophilia B

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Reduction in annualized bleeding rate and in factor use with infusion of viral vector with transgene
Lipid-associated genetic risk correlates with the risk of abdominal aortic aneurysm

Lipid-Linked Genetic Risk Tied to Abdominal Aortic Aneurysm

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Genetic elevation of LDL-C linked to increased AAA risk; increase for HDL-C linked to lower risk of AAA
Transcription factor 7 like 2 (TCF7L2) genetic variants contribute to phenotypic heterogeneity of type 1 diabetes

Genetic Variants Tied to Type 1 Diabetes Heterogeneity

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TCF7L2 variants associated with single autoantibody, higher C-peptide, lower glucose
Functional genes in the upper airway microbiome may be tied to childhood asthma

Researchers ID Microbiome Genes Tied to Asthma

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Upper airway microbiota differs in children with asthma, asthma remission, and no asthma
The presence of multiple LRRK2 risk variants is associated with a younger age at onset of Parkinson's disease

LRRK2 Variants Linked to Lower Age at Onset of Parkinson’s

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Participants with three risk variants of LRRK2 have significantly lower age at onset than noncarriers
PARP inhibitors demonstrate activity in triple-negative breast cancer tumors without BRCA1/2 mutations

PARP Inhibitors Promising Beyond BRCA1/2 Altered Tumors

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Talazoparib caused regression in 5 patient-derived xenografts, 4 without germline BRCA1/2 mutations
Qualitative computed tomography features differ between patients with BRCA-mutant high-grade serous ovarian cancer (HGSOC) and patients with BRCA wild-type HGSOC

Computed Tomography Features Vary Based on BRCA Status

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Differences seen between BRCA-mutant versus BRCA wild-type high-grade serous ovarian cancer