Results 161 to 170 of about 218,037 (308)
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
Angewandte Chemie, EarlyView.We present a bioluminescent diagnostic platform that integrates DNA amplification and detection in a single step. The engineering of thermostable luciferase‐intercalating dye conjugates and controlled release of caged luciferin substrates enable real‐time, detection of attomolar concentrations of viral DNA within 30 min.
Yosta de Stigter +8 more
wiley +2 more sources
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Although shifts in nasal microbiota have been well‐documented in inflammatory upper airway conditions, microbiota tumor‐associated alterations remain uncharacterized. This study is the first to compare sinonasal microbiota profiles of patients with malignant tumors (MT), benign tumors (BT), and controls, offering insights into tumor‐
Evan A. Patel +13 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang +14 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.Transcutaneous electrical nerve stimulation (TENS) improved knee osteoarthritis (KOA) in rats by regulating interleukin‐1β (IL‐1β), IL‐6, and IL‐8 expressions and the bone morphogenetic protein 2 (BMP‐2)/transforming growth factor β (TGF‐β) signaling pathway.
Yan Sun +6 more
wiley +1 more source
Earth Microbiome Project and Global Systems Biology
mSystems, 2018 Jack A. Gilbert +2 more
doaj +1 more source
, 2007 This study sought to develop a sensitive DNA-based protocol capable of detecting D. germinate in environmental samples with extreme sensitivity. This report is a direct extension from our previous interim report and addresses the subsequent progress in ...
Rueckert, Andreas +5 more
core
Bioinformatic Processing of Amplicon Sequencing Datasets
, 2017 Amplicon sequencing can be a very powerful approach for detecting toxic cyanobacteria or any other kind of microorganism during monitoring programs. However, owing to the huge size of next-generation sequencing (NGS) datasets (up to several Gb), there is an obvious need for semi-automatic data processing and statistical analysis, as well as ...
Sweetlove, Maxime +5 more
openaire +2 more sources