Results 41 to 50 of about 52,359 (306)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Additional file 1: of Acid ceramidase deficiency: Farber disease and SMA-PME

, 2018
A description of the literature search method used to identify FD and SMA-PME patients from research articles and case reports.
Fabian Yu (5541767), Thierry Levade (163867), Jeffrey Medin (5541773), Samuel Amintas (5541770)   +3 more
core   +1 more source

A Self‐Healing Permanent Magnet Putty for Soft Robot Skins With Force Sensing and Functional Recovery

Advanced Robotics Research, EarlyView.
Permanent magnet putty (PMP) integrates high‐coercivity NdFeB particles with a dynamic polyborosiloxane–Ecoflex matrix, achieving rapid self‐healing (90% mechanical recovery in 10 s) and magnetic recovery within 20 min. With twice the sensitivity of commercial putties, PMP enables precise 5–30 N force detection and discrimination between pressing and ...
Ruotong Zhao, Mitsuhiro Kamezaki, Ryosuke Dobashi, Yuhiro Iwamoto, Yasushi Ido, Yoshihiro Kawahara   +5 more
wiley   +1 more source

Perceived message effectiveness of cigar warning themes among adults in the United States

Preventive Medicine Reports, 2023
Most tobacco warnings focus on health harms to the consumer, but other message themes may be promising. We assessed perceived message effectiveness (PME) among adults who smoke cigars for 12 cigar warning statements to discourage smoking, and measured ...
Jennifer Cornacchione Ross, Sarah D. Kowitt, Kristen L. Jarman, Leah M. Ranney, Allison J. Lazard, James F. Thrasher, Paschal Sheeran, Adam O. Goldstein   +7 more
doaj   +1 more source

QBP1 Peptide as a Potential Anti‐Amyloidogenic Therapy for Type 2 Diabetes: An In Vitro Study

Advanced Science, EarlyView.
The anti‐amyloidogenic peptide QBP1 effectively halts human islet amyloid polypeptide (hIAPP) aggregation, preventing the formation of toxic β‐structured intermediates. Through a combination of biophysical assays, molecular dynamics, and cell‐based studies, QBP1 is shown to preserve β‐cell viability and metabolic homeostasis, positioning it as a ...
María M. Tejero‐Ojeda, Ada Bernaus Vives, Michał Wojciechowski, Dinh Quoc Huy Pham, Mateusz Chwastyk, Mario Vallejo, Anna Novials, Douglas V. Laurents, Mariano Carrión‐Vázquez   +8 more
wiley   +1 more source

Influence du marché et de la clientèle desservi sur la croissance des PME manufacturières

, 2004
International audienceBiographie des auteurs Josée St-Pierre est professeure de finance à l'Université du Québec à Trois-Rivières, Titulaire de la Chaire J.A.Bombardier sur les relations interentreprises et la gestion du risque ; ses recherches portent ...
Janssen, Frank, St-Pierre, Josée, Therrien, Catherine, Julien, Pierre-André   +3 more
core   +2 more sources

FINANCE PARTICIPATIVE : UNE ALTERNATIVE DE FINANCEMENT POUR LES PME AU MAROC

Revue Marocaine de Recherche en Management et Marketing, 2021
La croissance des PME est un vecteur catalyseur de la création d’emploi et des richesses au Maroc. Néanmoins, l’accès au financement pour cette catégorie d’entreprises constitue un obstacle majeur à sa croissance.
ELFAIK SIRINE, HNICHE OMAR
doaj   +1 more source

Agnuside Stabilizes the Complex I Assembly Factor NDUFAF6 to Reinforce Mitochondrial Efficiency and Thermogenic Responsiveness

Advanced Science, EarlyView.
ABSTRACT Brown and beige adipocytes dissipate energy as heat, yet effective strategies to enhance their mitochondrial efficiency remain limited. Here, we identify Agnuside (AGN) as a selective stabilizer of the complex I assembly factor NDUFAF6. AGN directly binds cytosolic NDUFAF6, suppresses its ubiquitination, prolongs its half‐life, and facilitates
Qingwen Zhao, Li Xie, Qianzhuo Wang, Shuying Dai, Bei Li, Yingjuan Zhang, Zhe Sun, Yue Gao   +7 more
wiley   +1 more source

Genome-wide identification of PME gene family and expression of candidate genes associated with aluminum tolerance in tea plant (Camellia sinensis)

BMC Plant Biology, 2022
Background The major aluminum (Al) detoxication mechanism of tea plant (Camellia sinensis), as an Al hyperaccumulator plant, is the fixation of almost 70% of Al in the cell walls.
Danjuan Huang, Yingxin Mao, Guiyi Guo, Dejiang Ni, Liang Chen   +4 more
doaj   +1 more source

Crystal Facet‐Polysaccharide Matching in CFS‐P Nanocrystals Drives Fungal Uptake, Vacuole Destruction, and Selective Antifungal Activity

Advanced Science, EarlyView.
Facet‐engineered PVP‐capped CuFeSe2 nanocrystals exhibit potent, selective antifungal activity by strongly binding cell‐wall mannan, enabling vacuolar entry and organelle disruption. High‐index facets show superior mannan affinity, validated by theoretical calculations and experiments. CFS‐P induces vacuolar cavitation, mitochondrial abnormalities, and
Zhaohui Wang, Xiaojin Deng, Xujuan Huang, Yuhang Pan, Yao Qin, Lu Zhang, Le Xu, Tianyi Qin, Deteng Zhang, Yi Ma, Yalong Wang   +10 more
wiley   +1 more source