Results 161 to 170 of about 79,230 (261)

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Integrated mass drug administration for yaws eradication: evidence from a comparative observational study in Papua New Guinea and a systematic review with network meta-analysis. [PDF]

BMJ Glob Health
Xu J, Yohogu M, Wong FSY, Jamil S, Morishita F, Sanikullah KH, Yadav RPH, Tran HTG.   +7 more
europepmc   +1 more source

To What Extent Do Australian Government Metrics Align With Indigenous and Non‐Indigenous Conceptualisations of Wellbeing? A Scoping Review of Wellbeing Frameworks

Australian Journal of Social Issues, EarlyView.
ABSTRACT Indigenous wellbeing theories offer potential to better measure social and cultural determinants. This scoping review aimed to identify the types of metrics used by the Australian government to assess wellbeing and evaluate the alignment of current frameworks against Indigenous and non‐Indigenous conceptualisations of wellbeing.
Sophie Wright‐Pedersen, Edward J. O'Connor, Megan Rebuli, Tiana Thorne, Naomi Kakoschke, Ray Mahoney   +5 more
wiley   +1 more source

Mechanochemistry Meets Catalysis: Metal Complexes for Greener Organic Transformations

Angewandte Chemie, EarlyView.
Mechanochemistry is redefining metal catalysis by controlling catalyst formulation, speciation, and deployment. This Review shows how milling, LAG, RAM, and TSE enable rapid metal‐complex assembly, distinctive catalytic manifolds, and scalable synthesis beyond solution chemistry.
Sourav Behera, Francesco Basoccu, Andrea Porcheddu   +2 more
wiley   +2 more sources

Comparative safety and efficacy of invasive therapies for carotid artery stenosis: a systematic review and network meta-analysis. [PDF]

J Neurointerv Surg
Amran MY, Fitrah YA, Larassaphira NP, Gunawan AMAK, Abdillah AMH, Toaha ARM, Zainal ATF, Gunadi SGA.   +7 more
europepmc   +1 more source

The HCMV‐encoded miR‐UL36‐3p promotes angiogenesis of endothelial cells by downregulating FOXO3

Animal Models and Experimental Medicine, EarlyView.
This illustration shows the role of hcmv‐miR‐UL36‐3p in endothelial cell angiogenesis. During productive infection, endothelial cells express HCMV‐encoded miRNAs. Viral hcmv‐miR‐UL36‐3p promotes endothelial cell proliferation, migration, and capillary tube formation by directly targeting and downregulating FOXO3. The pro‐angiogenic activity of hcmv‐miR‐
Chen Wang, Mengyu Li, Guosheng Li, Hao Zhang, Cheng Wang, Chen‐Yu Zhang   +5 more
wiley   +1 more source

Catalytic Enantioselective Multicomponent Reactions of Sulfoxonium Ylides Enabled by a Formal Rearrangement—A Versatile Entry to Enantioenriched α‐Sulfanyl Carbonyl Compounds

Angewandte Chemie, EarlyView.
A catalytic network embedding a formal rearrangement enables the first catalytic enantioselective multicomponent reaction (MCR) of sulfur ylides. In the presence of a bulky chiral phosphoric acid, the reaction combines sulfoxonium ylides, aldehydes and thiols, and affords synthetically versatile β‐hydroxy‐α‐sulfanyl carbonyl compounds in ...
Nicolò Santarelli, Pietro Pecchini, Nunzio Matera, Andrea Pellegrini, Riccardo Fabbri, Irati Celada Cubero, Leire Navarro Rubio, Cristina Di Pietro, Andrea Mazzanti, Mariafrancesca Fochi, Luca Bernardi   +10 more
wiley   +2 more sources

Animal models in molecular biology research: Challenges, ethical imperatives, and the path to human‐relevant translation

Animal Models and Experimental Medicine, EarlyView.
The graphical abstract shows how molecular biology research has shifted from using traditional animal models toward using methods that are more relevant to humans. It points out the main problems, differences between species, difficulty in reproducing results, moral issues, and lack of infrastructure that make translational accuracy harder to achieve ...
Md. Shajid Hossain Rafi, Md. Taslim Sarker, Ferdous‐Ul‐Haque Joy, Shahriar Mohd Shams, Tahmina Foyez, Md. Abdul Mazid, Syed Masudur Rahman Dewan   +6 more
wiley   +1 more source

Advances in BODIPY Derivatives for Antibacterial Phototherapy

Angewandte Chemie, EarlyView.
This review systematically summarizes the design strategies and structure‐activity relationships of BODIPY‐based antibacterial phototherapy, covering molecular engineering of small‐molecule photosensitizers and nanoplatforms, bacterial targeting and carrier design, and discussing the challenges and future perspectives associated with clinical ...
Li Lv, Heejeong Kim, Hongchen Zhai, Hanqi Ren, Silu Wang, Cong Sun, Yafu Wang, Hosoowi Lee, Juyoung Yoon, Hua Zhang   +9 more
wiley   +2 more sources