Results 191 to 200 of about 134,608 (306)

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel   +41 more
wiley   +1 more source

Total Chemical Synthesis of Interleukin‐15 and Interleukin‐2: Taming Protein Hydrophobicity and Aggregation by a Versatile Solubilizing Strategy

open access: yesAngewandte Chemie, EarlyView.
A reducible solubilizing tag strategy (RST‐2.0) enables the synthesis, purification and ligation of difficult peptides while being readily removable just during folding, which overcomes the common challenges from protein hydrophobicity and aggregation. With this method, we achieved the first total synthesis of native and N‐glycosylated IL‐15 as well as
Jingwen Zeng   +4 more
wiley   +2 more sources

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

Expanding High‐Fidelity Multiplexing in Ultrasensitive Single‐Molecule Protein Detection via Proximity Barcoding

open access: yesAngewandte Chemie, EarlyView.
We develop an ultrasensitive, high‐accuracy multiplex protein detection platform integrating high‐throughput single‐molecule protein detection with proximity ligation. Using paired DNA barcodes, this platform breaks the digital immunoassay multiplexing ceiling imposed by cross‐reactivity and fluorescence spectral overlap, providing a broadly accessible
Chi‐Chia Wang, Emily Dorsey, Connie Wu
wiley   +2 more sources

Adaptation of clinical pharmacy services to meet patient care needs during the COVID-19 pandemic. [PDF]

open access: yesJ Am Coll Clin Pharm, 2021
Danelich IM   +10 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu   +23 more
wiley   +1 more source

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