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An analysis of whole-exome and RNA sequencing data reveals mutations

Insulinomas May Hold Key to Diabetes Drug Development

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Novel discovery of molecular pathways may reveal map to regenerate insulin-producing cells
Clinical exome sequencing is an effective diagnostic tool for infants suspected of having monogenic disorders

Clinical Exome Sequencing Useful for Critically Ill Infants

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Molecular diagnosis affects medical management in ~half of infants ID'd by clinical exome sequencing
For patients with diverse malignancies

Hypermutated ctDNA Linked to Checkpoint Inhibitor Response

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Patients with high alteration number in variants of unknown significance had better outcomes
Children with CYP2C19*17 alleles without corresponding loss-of-function alleles have longer times with pH <4 in response to proton pump inhibitor medication

CYPC19*17 Allele May Influence Response to PPI Treatment

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Kids with CYPC19&#42;17 alleles without corresponding loss-of-function alleles have longer times with pH &#60;4
Genotype-guided warfarin dosing is associated with reduced risk of adverse events compared with clinically-guided dosing among patients undergoing elective hip or knee arthroplasty

Genotype-Guided Warfarin Dosing Cuts Adverse Events

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Risk of composite of major bleeding, INR ≥4, VTE, death down for hip, knee arthroplasty patients
The apolipoprotein E (APOE) ε4 allele increases the risk of overall and cardiovascular mortality

APOE Allele Type Tied to Mortality Risk

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No racial difference in the association between these alleles and mortality
Alcohol improves cerebellar-learning deficit in the movement disorder myoclonus-dystonia

Alcohol Aids Cerebellar Deficit From Movement Disorder

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Cerebellar networks may play key role in symptom generation in these patients
Administration of histamine-producing gut microbes to histidine decarboxylase-deficient mice reduces inflammation and tumor formation

Histamine May Play Role in Colorectal Tumorigenesis

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Histamine-producing probiotic reduces inflammation, suppresses colon tumors in mice
The fibroblast growth factor receptor 3 transforming acidic coiled-coil containing protein 3 (TACC3) gene fusion recruits endogenous TACC3 away from the mitotic spindle

New Link Seen Between Gene Fusion and Bladder Cancer

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Previously overlooked section of fusion found to negatively impact cancer cells, researchers say
Programmed death-ligand 1 is primarily expressed in metastatic colorectal cancer lesions

PD-L1 Mainly Expressed in Metastatic CRC Lesions

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Overall, 81.8 percent of metastatic CRCs and 40.9 percent of primary lesions had PD-L1 expression