Results 111 to 120 of about 253,684 (257)

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Local Chemical Gradients in a Mammalian Cortex Measured In Vivo With a Silicon Nanodialysis Mass Spectrometry Platform

Angewandte Chemie, EarlyView.
Fluorescence image of the coronal slice of mouse brain where multiple neurochemicals have been measured in vivo with a nanodialysis platform coupled to CE‐MS to reveal strong millimeter‐scale spatial chemical gradients. Formation and maintenance of such local chemical compartments in the otherwise diffusion‐homogeneous cortex indicates strong ...
Weihua Shi, Keyin Li, Yu Ding, Alex G. Armstrong, Jonathan V. Sweedler, Yurii Vlasov   +5 more
wiley   +2 more sources

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

American 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, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Spatial Orientation‐Dependent Double Hydrogen Bond/Photoredox Cooperative Catalysis in Metal–Organic Frameworks

Angewandte Chemie, EarlyView.
We report a heterogeneous double hydrogen bond/photoredox synergistic catalysis, wherein the flexibility and spatial orientation of catalytic centers, rather than catalyst activity, play a dominant role in catalytic performance. ABSTRACT Catalyst activity is typically the primary priority in designing a catalytic system. The higher catalyst activity is
Jing Ouyang, Sze Lam Lam, Chao Li, Peiqi Zhang, Le Yang, Zhiyi Yang, Teng‐Teng Chen, Xueliang Xiao, Yangjian Quan   +8 more
wiley   +2 more sources

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

A Crystalline and Thermally Stable Selenocysteine Selenenic Acid

Angewandte Chemie, EarlyView.
The long‐sought catalytic intermediate of selenoproteins, selenocysteine selenenic acid (Sec–SeOH), is isolated for the first time at ambient temperature. A bioinspired selenopeptide sequence encapsulated within a protective molecular cradle and an oxidant‐free route from selenenyl iodide (Sec–SeI) enable the isolation of Sec–SeOH. Contrary to the long‐
Ryosuke Masuda, Satoru Kuwano, Kei Goto
wiley   +2 more sources

Cyclo‐Polyproline: Chameleonic All‐Peptide Macrocycles With Induced‐Fit Host‐Guest Recognition

Angewandte Chemie, EarlyView.
Macrocycles served as the genesis of supramolecular chemistry, advancing synthetic, separation, and materials fields. Despite their utility, they typically lack synthetic control. This work establishes a robust platform for all‐peptide macrocycles capable of host‐guest complexation and chameleonic behavior.
Camilla Di Girolamo, Patricia C. Fleming, Caroline R. Kwawu, Amanda R. Guimarães, Jimmy Muldoon, Julia Bruno‐Colmenarez, Yannick Ortin, Michael R. Probert, Felipe Fantuzzi, Aniello Palma   +9 more
wiley   +2 more sources

Human Leukocyte Elastase Triggered Nanoparticles for Targeted Antimicrobial Delivery and Oral Microbial Modulation

Advanced NanoBiomed Research, EarlyView.
This study explores enzyme‐responsive nanoparticles for targeted antimicrobial release in inflamed oral environments. Nanoparticles formed by complexing peptides and chlorhexidine respond to human leukocyte elastase and release chlorhexidine selectively. P7 (ECAAPVCE)‐based formulations show optimal properties and stability, with antimicrobial activity
Mohammed A. Hadis, Ignacio Insua, Farah N. S. Raja, Álvaro Vila, William M. Palin, Michael R. Milward, Paul R. Cooper, Sarah A. Kuehne, Owen Addison, Paco Fernandez‐Trillo   +9 more
wiley   +1 more source

Harnessing the thermotolerant methylotroph Bacillus methanolicus for methanol-based synthetic L-proline production. [PDF]

Microb Cell Fact
Frank C, Virant D, Kosec G, Hoffmann T, Zelder O, Felle MF, Bremer E.   +6 more
europepmc   +1 more source

Cancer stem cells synthesize proline to attenuate oxidative stress. [PDF]

J Clin Invest
Wu W, Zhang P, Wang D, Wu X, Wu Q, Li D, Huang T, Wang R, Li H, Mi H, Taori S, Yuan F, Duan T, Chen Z, Yuan H, Rich JN.   +15 more
europepmc   +1 more source