Results 171 to 180 of about 16,158 (263)

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim   +12 more
wiley   +1 more source

Structural and Functional Siderophore Remodeling by Enzymatic Delipidation

open access: yesAngewandte Chemie, EarlyView.
A surprising functional switch in bacterial siderophores was discovered through genome mining and the analysis of environmental and pathogenic Pandoraea species. Pandorachelin B, a lipocyclopeptide that promotes swarming motility, is cleaved by a specialized acylase, yielding a ring‐contracted, homodetic cyclopeptide, pandorachelin A, which exhibits ...
Elena Herzog   +5 more
wiley   +2 more sources

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen   +8 more
wiley   +1 more source

Synthesis of Six Natural Products Enabled by Selective Hydroxylation of Orcinaldehyde‐Like Substrates With an Enzyme Library

open access: yesAngewandte Chemie, EarlyView.
Achieving selective (sp3)C–H hydroxylation can streamline the synthesis of complex organic molecules. Biocatalysis presents an opportunity to realize this transformation, however, identifying useful enzymes that enable synthetic strategies can be a challenge due to limitations in enzyme substrate scope.
Gonzalo J. Villegas Rodríguez   +5 more
wiley   +2 more sources

Nothing to See Here: Researching Non‐Recent Child Abuse in Schools and the Politics of Silence

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT While institutions, including schools, have responsibilities to protect children from harm, responses to instances of child sexual abuse have often exhibited avoidance and denial. Recent public inquiries in Australia revealed that some institutions, particularly in the Catholic sector, employed a deliberate strategy of silence which was used ...
John Crowley   +2 more
wiley   +1 more source

Barriers and Enablers for Effective Support Coordination in the National Disability Insurance Scheme

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Support coordinators act as intermediaries between the National Disability Insurance Scheme (NDIS) and participants, facilitating access to funded supports. To optimise outcomes, they must navigate NDIS complexities, identify services that meet individual needs and engage with diverse stakeholders.
Sharyn McDonald   +3 more
wiley   +1 more source

Chemoenzymatic Radiosynthesis of a Gluconate Transporter‐Targeted In Vivo Bacterial Sensor From Clinical [18F]FDG

open access: yesAngewandte Chemie, EarlyView.
An efficient radiosynthesis of fluorine‐18 labeled gluconic acid ([18F]FGA) was developed using two readily available materials, 2‐deoxy‐2‐[18F]fluoro‐D‐glucose ([18F]FDG) and glucose oxidase. [18F]FGA is highly specific for bacterial gluconate metabolism mediated by gluconate permease (GntP) and gluconate kinase (GntK), with rapid clearance, low off ...
Sang Hee Lee   +7 more
wiley   +2 more sources

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