Search
Search Results
-
Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?
BackgroundMesomelia-Synostoses Syndrome (MSS)(OMIM 600,383) is a rare autosomal dominant disorder characterized by mesomelic limb shortening, acral...
-
Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy
Background and objectivesFragile X Syndrome (FXS) is the most common cause of inherited intellectual disability, caused by CGG-repeat expansions...
-
-
Contribution of plasma levels of VEGF-A and angiopoietin-2 in addition to a genetic variant in KCNAB1 to predict the risk of bevacizumab-induced hypertension
Bevacizumab-induced hypertension poses a therapeutic challenge and identifying biomarkers for hypertension can enhance therapy safety. Lower plasma...
-
Advanced Targeting Strategies for Murine Retroviral and Adeno-associated Viral Vectors
Targeted gene delivery involves broadening viral tropism to infect previously nonpermissive cells, replacing viral tropism to infect a target cell...
-
Nonviral Delivery of Cancer Genetic Vaccines
The potential use of genetic vaccines to address numerous diseases including cancer is promising, but currently unrealized. Here, we review...
-
Production and Formulation of Adenovirus Vectors
Adenovirus vectors have attracted considerable interest over the past decade, with ongoing clinical development programs for applications ranging...
-
Molecular Conjugates
Molecular conjugates are nanometer-sized entities consisting of synthetic materials (lipids, polycations, targeting agents, and so on) and nucleic...
-
A novel homozygous missense TTC12 variant identified in an infertile Pakistani man with severe oligoasthenoteratozoospermia and primary ciliary dyskinesia
TTC12 is a cytoplasmic and centromere-localized protein that plays a role in the proper assembly of dynein arm complexes in motile cilia in both...
-
Adeno-associated Virus as a Gene Therapy Vector: Vector Development, Production and Clinical Applications
Adeno-associated virus (AAV) has emerged as an attractive vector for gene therapy. AAV vectors have successfully been utilized to promote...
-
Lentiviral Vectors
We review the use of lentiviral vectors in current human gene therapy applications that involve genetic modification of nondividing tissues with...
-
Plasmid Vaccines and Therapeutics: From Design to Applications
In the late 1980s, Vical and collaborators discovered that the injection into tissues of unformulated plasmid encoding various proteins resulted in...
-
The influence of the vaginal ecosystem on vaginitis, bacterial vaginosis, and sexually transmitted diseases: an epidemiological study and literature review
PurposeThis study aimed to demonstrate the correlation between altered balance of the vaginal ecosystem and increased risk of vaginitis, bacterial...
-
Impact of different obstetric interventions and types of delivery on breastfeeding: a nationwide cross-sectional survey of Hungarian women
BackgroundWe assessed the effect of different obstetric interventions and types of delivery on breastfeeding.
MethodsA quantitative, cross-sectional...
-
Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein
The clinical diagnosis of patients with multisystem involvement including a pronounced neurologic damage is challenging. High-throughput sequencing...
-
Silencing DOCK2 Attenuates Cardiac Fibrosis Following Myocardial Infarction in Mice Via Targeting PI3K/Akt and Wnt/β-Catenin Pathways
Cardiac fibrosis following myocardial infarction (MI) seriously affects the prognosis and survival rate of patients. This study aimed to determine...
-
Actn2 defects accelerates H9c2 hypertrophy via ERK phosphorylation under chronic stress
BackgroundIn humans, ACTN2 mutations are identified as highly relevant to a range of cardiomyopathies such as DCM and HCM, while their association...
-
Gut Microbiome and colorectal cancer: discovery of bacterial changes with metagenomics application in Turkısh population
BackgroundColorectal cancer (CRC) is the 3rd most common cancer in the world and colonic carcinogenesis is a multifactorial disease that involves...
-
Diagnosis, treatment and management of lipodystrophy: the physician perspective on the patient journey
BackgroundLipodystrophy syndromes are a heterogeneous group of rare, life-limiting diseases characterized by a selective loss of adipose tissue and...
