Results 241 to 250 of about 364,632 (296)

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Photo‐Triggered, Fast, and Fluorogenic Thiophene‐Based Cycloalkynes for the Bioorthogonal Fluorescent Labeling of 1,3‐Dipole‐Tagged Molecules in No‐Wash Conditions

Angewandte Chemie, EarlyView.
Thiophene is king! The fusion of thiophene rings to cycloalkynes super‐charged their copper‐free click chemistry applications, by (1) enhancing the alkyne reactivity (fastest cyclooctyne to date) and (2) rendering the alkyne fluorogenic (with fluorescence enhancement up to 150‐fold upon reaction), making these bioorthogonal reagents ideal for tracking ...
Jurgen Schulz, Zoeisha S. Chinoy, Tarek Khalaf, Yukang Li, Pengchen Ma, Dennis Svatunek, Kendall N. Houk, Frédéric Friscourt   +7 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   +1 more source

Anisotropic NMR as a Crucial Tool for Differentiation of Epimers With High Conformational Flexibility

Angewandte Chemie, EarlyView.
Epimer discrimination remains challenging due to subtle NMR differences. Here, we propose a methodology based on 13C‐RCSA and RDC anisotropic parameters, enabling the assignment of two flexible tetraprenyltoluquinol epimers (1a and 1b) with remote stereoclusters.
Juan Carlos C. Fuentes‐Monteverde, Abel M. Forero, Nilamoni Nath, Antonio Hernández Daranas, Carlos Jiménez, Jaime Rodríguez, Christian Griesinger   +6 more
wiley   +1 more source

A Cholesterol Analogue for Cell‐Surface Enzyme Display

Angewandte Chemie, EarlyView.
We report a non‐genetic strategy for bacterial cell surface enzyme immobilisation using cholesterol‐based artificial lipids containing Ni2+‐NTA binding groups that can integrate into biological membranes. The engineered cells can capture His‐tagged enzymes directly from cell lysates while preserving intracellular and surface activity, allowing for ...
Vasco F. Batista, Nele Van Wyngaerden, Changzhu Wu, Frank Glorius   +3 more
wiley   +1 more source

A Neutral “Masked” Diborene and Its Reactivity Toward Metal‐Free Pyridine Homocoupling

Angewandte Chemie, EarlyView.
An unprecedented neutral “masked” diborene, formed via intramolecular arene dearomatization of an N‐heterocyclic imine‐supported free diborene, can be photochemically released to regenerate the highly reactive triplet diborene intermediate. Computational analysis elucidates the bonding situation of the hitherto elusive free diborene species, and the ...
Ke Li, Arseni Kostenko, John A. Kelly, Tobias Weng, Shigeyoshi Inoue   +4 more
wiley   +1 more source

Crystal structure of 4-bromo-3-[(5-bromo-thio-phen-2-yl)methyl-idene]-2-(di-cyano-methyl-idene)-5,6-di-fluoro-2,3-di-hydro-inden-1-one. [PDF]

Acta Crystallogr E Crystallogr Commun
Cao S, Chen X, Yu Z.
europepmc   +1 more source

STRATEJ%c4%b0K%20Y%c3%96NET%c4%b0MDE%20S%c3%9cRD%c3%9cR%c3%9cLEB%c4%b0L%c4%b0RL%c4%b0K%20%c4%b0%c3%87%c4%b0N%20PAZARLAMA%20ET%c4%b0%c4%9e%c4%b0

Social Sciences Studies Journal, 2018
openaire   +1 more source

Y%c3%9cKSEKOKUL%20%c3%96%c4%9eRENC%c4%b0LER%c4%b0N%c4%b0N%20YAZILI%20ANLATIMLARINDA%20NOKTALAMA%20%c4%b0%c5%9eARETLER%c4%b0N%c4%b0%20KULLANMAMA%20NEDENLER%c4%b0%20(D%c4%b0CLE%20%c3%9cN%c4%b0VERS%c4%b0TES%c4%b0%20ERGAN%c4%b0%20MYO%20%c3%96RNE%c4%9e%c4%b0)

International Journal of Social Humanities Sciences Research (JSHSR), 2018
openaire   +1 more source