Results 101 to 110 of about 2,057,508 (290)

Proteogenomic Profiling of Idiopathic Pulmonary Arterial Hypertension Identifies Sex‐Differential Proteins and Candidate Therapeutic Targets

open access: yesAdvanced Science, EarlyView.
An integrated proteogenomic analysis of 44,137 predominantly European‐ancestry UK Biobank participants aged 40–69 years identifies 12 robust proteins associated with idiopathic pulmonary arterial hypertension. These proteins define a high‐mortality molecular endotype, support early detection and mortality prediction, reveal sex‐differential proteomic ...
Xinjie Lin   +18 more
wiley   +1 more source

The burden of congenital rubella syndrome in the Philippines: results from a retrospective assessment

open access: yesWestern Pacific Surveillance and Response, 2017
Introduction: In line with the regional aim of eliminating rubella and congenital rubella syndrome (CRS), phased introduction of rubella-containing vaccines (RCV) in the Philippines’ routine immunization programme began in 2010.
Anna Lena Lopez   +10 more
doaj   +1 more source

A review of congenital heart block [PDF]

open access: yes, 2003
Congenital heart block is a rare disorder. It has an incidence of about 1 in 22,000 live births. It may be associated with high mortality and morbidity.
Glickstein, J.   +3 more
core  

Congenital cytomegalovirus infection registry in Flanders : opportunities and pitfalls

open access: yes, 2021
: In 2007, a prospective multicentre registry was set up to collect data on incidence and outcome of children with congenital cytomegalovirus infection in Flanders.
Goderis, Julie   +14 more
core  

CRISPR and Gene Augmentation Rescue Trabecular Meshwork Dysfunction in iPSC Models of Lowe Syndrome

open access: yesAdvanced Science, EarlyView.
By modeling Lowe syndrome using patient‐derived iPSCs, this study establishes a human disease model that faithfully recapitulates OCRL deficiency‐associated ciliary and cytoskeletal defects. The model enables evaluation of both mutation‐agnostic DNA augmentation and CRISPR‐mediated mutation correction strategies, both of which restore OCRL function and
Siyu Chen   +11 more
wiley   +1 more source

CHD8‐Dependent Chromatin Licensing Sustains Trophoblast Stem Cell Transcriptional Programs

open access: yesAdvanced Science, EarlyView.
In this study, Huang et al., identify chromatin remodeler CHD8 as an essential factor in TSC maintenance and placental development. CHD8‐dependent chromatin accessibility supports the occupancy of key trophoblast TFs and is coupled to KMT2A‐associated H3K4me3 deposition at TSC stem and cell cycle genes, providing a permissive chromatin environment for ...
Yuanyuan Huang   +16 more
wiley   +1 more source

Consanguinity and the risk of congenital heart disease [PDF]

open access: yes, 2012
Consanguineous unions have been associated with an increased susceptibility to various forms of inherited disease. Although consanguinity is known to contribute to recessive diseases, the potential role of consanguinity in certain common birth defects is
Hudgins, L.   +2 more
core  

An Adenoviral‐Vectored Tp0326 Vaccine Elicits Robust Functional Antibodies to Prevent Treponema pallidum Dissemination in a Rabbit Model

open access: yesAdvanced Science, EarlyView.
Vaccination promotes cellular infiltration into primary lesions and effectively inhibits T. pallidum dissemination to distal organs. Notably, transfer of lesion tissue from immunized animals fails to establish infection in naive recipients, confirming specific protective immunity.
Yinbo Jiang   +4 more
wiley   +1 more source

Zika Virus Infection in Pregnancy: Advanced Diagnostic Approaches in Dengue-Naive and Dengue-Experienced Pregnant Women and Possible Implication for Cross-Reactivity and Cross-Protection

open access: yesMicroorganisms, 2019
Zika virus (ZIKV) infection has been linked to congenital defects in fetuses and infants, as exemplified by the microcephaly epidemic in Brazil. Given the overlapping presence of Dengue virus (DENV) in the majority of ZIKV epidemic regions, advanced ...
Maurizio Zavattoni   +10 more
doaj   +1 more source

Presence of Cytomegalovirus in urine and blood of pregnant women with primary infection might be associated with fetal infection

open access: yes, 2016
Background Cytomegalovirus (CMV) congenital infection can result from primary infection, reinfection or reactivation among pregnant women. The risk of vertical transmission is much higher in case of primary infection, and the transmission rate increases ...
Zaytouni, Siham   +15 more
core   +1 more source

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