Results 211 to 220 of about 88,240 (296)

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

Electrochemical ammonia oxidation using nickel copper hydroxide with H₂ recovery at high current density and selectivity.

Green Chem
van Noordenne DD, Jungbacker PJ, Urakawa A, Mulder FM.   +3 more
europepmc   +1 more source

A Clue for the Hen and Egg Question: The Simultaneous Formation of Uracil and Amino Acids Under Simulated Hadean Conditions. [PDF]

Life (Basel)
Seitz C, Schuldeis D, Vogel K, Eisenreich W, Huber C.   +4 more
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Chemoenzymatic Synthesis of Well‐Defined α(2,8)‐ and α(2,9)‐Linked Oligosialosides

Angewandte Chemie, EarlyView.
Well‐defined α(2,8)‐ and α(2,9)‐linked oligosialic acids of different lengths can be prepared by employing recombinant bacterial polysialyltransferases in combination with chemically modified CMP‐Neu5Ac derivatives. After transfer, a sialoside is formed bearing an artificial entity, which blocks further glycosylation.
Jelle A. Fok, Keshav Kishor, Mehman I. Bunyatov, Gerlof P. Bosman, Geert‐Jan Boons   +4 more
wiley   +2 more sources

Biological valorization of methane and nitrogen gas-derived ammonia via methanotrophic bacteria for gut-beneficial nutrients. [PDF]

Nat Commun
Gao Z, Liu Y, Jiao S, Fu R, Chen Y, Zhang C, Shen X, Yang G, Yang S, Wang X, Shi L, Fei Q.   +11 more
europepmc   +1 more source

Study of the green ammonia distribution for shipping

A report that outlines a strategy for green ammonia production for shipping. This will include a review of supply and infrastructure for green ammonia for shipping, a review of the requirements of the shipping use case, and recommendations on how to proceed towards meeting shipping requirements.
openaire   +1 more source

Multi‐Responsive Bowl‐Shaped Janus Nanomotors Based on Polyitaconic acid/Polypyrrole on the Surface of Iron Oxide Nanoparticles with Chemical, Electrical, and Magnetic Field Actuation for Targeted Drug Delivery Applications

Advanced NanoBiomed Research, EarlyView.
Bowl‐shaped Janus nanomotors with platinum, iron oxide, and polypyrrole integrate catalytic, magnetic, and electric propulsion for targeted drug delivery. They demonstrate controlled, directional motion under varying pH and hydrogen peroxide conditions, with optimal performance in neutral media.
Kimia Tavakoli Dehaghi, Sepideh Khoee, Shima Tavakoli, Oommen P. Varghese   +3 more
wiley   +1 more source

Solar-Driven Ammonia Synthesis From Nitrate Reduction Paired With CO₂ Capture for Sustainable Agriculture via a Robust CuPd Heterojunction. [PDF]

Angew Chem Int Ed Engl
Guo W, Huang X, Ma Y, Song Y, Li Z, Zhang Q, Xin Y, Su J, He M, Wang R, Xue R, Li X, Xi S, Wang J, Zhao S, Zhang S, Tang BZ, Jen AKY, Ye R.   +18 more
europepmc   +1 more source

Injectable Bone Cements: A Generational Framework for Bioactivity, Porosity, and Mechanobiological Design at the Nanoscale

Advanced NanoBiomed Research, EarlyView.
Key demographic, biological, and material considerations that drive the need for advanced injectable bone cement technologies. Injectable bone cements (IBCs) are widely used in orthopaedic and craniofacial applications due to their minimally invasive delivery and ability to provide early mechanical stabilisation.
Frank Fei, Yogambha Ramaswamy, Young Jung No   +2 more
wiley   +1 more source