Results 151 to 160 of about 21,988 (263)

A lightweight metaheuristic-driven adaptive PID approach for nonlinear conical tank regulation. [PDF]

Sci Rep
Rajaram K, Kathirvel M, Subburathinam K.
europepmc   +1 more source

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

Temperature‐ and Light‐Regulated Liquid Crystal Smart Window for Dynamic Control of Daylight and Solar Heat in All‐Weather Conditions

Angewandte Chemie, EarlyView.
An environmentally adaptive smart window based on the interplay of light‐driven molecular motors and liquid crystal (LC) polymers is developed. The window can dynamically switch among three distinct working states: transparent, reflective, and scattering, depending on ambient temperature and solar light intensity, enabling excellent modulation of ...
Yang Zhang, Ying Wu, Wenxuan Liu, Xin Wang, Dirk J. Broer, Ben L. Feringa, Jiawen Chen   +6 more
wiley   +2 more sources

Investigating the Effects of Electron Correlation and Methylation on the <i>S</i>₁/<i>S</i>₀ Conical Intersection Seam of Fulvene. [PDF]

J Chem Theory Comput
Segarra-Martí J, Bearpark MJ.
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Nuclei isolation from rat and cow white adipose tissues for single-nucleus RNA sequencing; rat WAT remains a challenge. [PDF]

Front Physiol
Thompson JM, Chirivi M, Terrian L, Contreras GA, Watts SW, Nault R.   +5 more
europepmc   +1 more source

Liposomal Delivery of L‐2‐Hydroxyglutarate for Targeting Epigenetic Dysregulation in Osteoarthritis

Advanced NanoBiomed Research, EarlyView.
Osteoarthritis involves cartilage degeneration, inflammation, and epigenetic dysregulation. A liposomal formulation of the TET1 inhibitor L‐2‐hydroxyglutarate to overcome rapid joint clearance was developed. The formulation showed good physicochemical properties, reduced inflammatory and catabolic gene expression in chondrocytes, and alleviated ...
Denise Murgia, Akshay Pandey, Raffaele Spanò, Bianca Martins Estevão, Roberto Palomba, Greta Avancini, Tamaghna Gupta, Ana Maria Lopez Estevez, Stuart B. Goodman, Nidhi Bhutani, Paolo Decuzzi   +10 more
wiley   +1 more source

A new spiny frog of the genus <i>Pristimantis</i> (Anura, Strabomantidae) from the eastern slopes of the Ecuadorian Andes. [PDF]

Zookeys
Reyes-Puig JP, Yánez-Muñoz MH, Ron SR, Venegas PJ, Ortega J, Carrión-Olmedo JC, Reyes-Puig C.   +6 more
europepmc   +1 more source

Case Report: Effective management of acute corneal hydrops with concurrent nystagmus and retinitis pigmentosa: combination of deep lamellar corneal suturing and anterior chamber gas injection. [PDF]

Front Med (Lausanne)
Zhou Y, Aishan A, Yang Y, Li X.
europepmc   +1 more source