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Article
Open AccessCompensatory evolution in NusG improves fitness of drug-resistant M. tuberculosis
Drug-resistant bacteria are emerging as a global threat, despite frequently being less fit than their drug-susceptible ancestors1–8. Here we sought to define the mechanisms that drive or buffer the fitness cost o...
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Article
Open AccessCRISPRi chemical genetics and comparative genomics identify genes mediating drug potency in Mycobacterium tuberculosis
Mycobacterium tuberculosis (Mtb) infection is notoriously difficult to treat. Treatment efficacy is limited by Mtb’s intrinsic drug resistance, as well as its ability to evolve acquired resistance to all antitube...
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Article
Defining Polysaccharide Antibody Deficiency: Measurement of Anti-Pneumococcal Antibodies and Anti-Salmonella typhi Antibodies in a Cohort of Patients with Recurrent Infections
The correlation between different methods for the detection of pneumococcal polysaccharide vaccine (PPV) responses to diagnose specific polysaccharide antibody deficiency (SAD) is poor and the criteria for def...
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Article
Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction
DOCK2 is a guanine-nucleotide-exchange factor for Rac proteins. Activated Rac serves various cellular functions including the reorganization of the actin cytoskeleton in lymphocytes and neutrophils and product...
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Article
Open AccessLiver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome
Vitamin A intoxication is a rare cause of liver disease, but the risk increases in patients with underlying liver dysfunction. We present a patient with Shwachman-Diamond Syndrome who developed liver fibrosis,...
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Article
Open AccessCystic fibrosis carriership and tuberculosis: hints toward an evolutionary selective advantage based on data from the Brazilian territory
The reason why Cystic Fibrosis (CF) is the most common fatal genetic disease among Caucasians has been incompletely studied. We aimed at deepening the hypothesis that CF carriers have a relative protection aga...
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Article
AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity
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Article
Role of Percutaneous Glue Treatment After Persisting Leak After Laparoscopic Sleeve Gastrectomy
Over the years, many treatment modes have been attempted for gastrocutaneous fistula (GCF) after laparoscopic sleeve gastrectomy (LSG). Minimally invasive techniques for GCF treatment include stent placement a...
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Article
Searching for a cure for cystic fibrosis. A 25-year quest in a nutshell
After 25 years of intensive search, there is not yet a cure for cystic fibrosis (CF). However, the quest has led to major breakthroughs in understanding the basic disease defect and defining strategies to corr...
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Article
Nicknames as Sex-Role Stereotypes
Nicknames are powerful indicators of attitudes towards gender categories and because of their transient and optional nature, it has been argued that they are more likely to show a closer relationship to ongoin...
