Results 211 to 220 of about 65,308 (255)

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

<i>CDC73</i> c.1155-3A>G is a pathogenic variant that causes aberrant splicing, disrupted parafibromin expression, and hyperparathyroidism-jaw tumor syndrome. [PDF]

JBMR Plus
Needleman L, Chun N, Sitaraman S, Tan M, Sellmeyer DE, Kebebew E, Annes JP.   +6 more
europepmc   +1 more source

Seismic Performance and Vibration‐Based Damage Identification of Two‐Storey Balloon‐Framed CLT Shear Walls

Earthquake Engineering &Structural Dynamics, EarlyView.
ABSTRACT While cross‐laminated timber (CLT) is increasingly utilized in lateral force‐resisting systems in mass timber construction, research has predominantly focused on platform‐type construction. Balloon‐type CLT shear wall systems offer distinct structural advantages, notably the elimination of cumulative perpendicular‐to‐grain compression and a ...
Samira Mohammadyzadeh, Houman Ganjali, Jianhui Zhou, Thomas Tannert   +3 more
wiley   +1 more source

Protective effects of adiponectin receptor agonists against equine lamellar endoplasmic reticulum stress

Equine Veterinary Journal, EarlyView.
Abstract Background Lamellar endoplasmic reticulum (ER) stress occurs in hyperinsulinemia‐associated and sepsis‐related laminitis. Adiponectin is associated with reduced laminitis risk and inhibits ER stress in other species. Objectives To induce ER stress in ex vivo equine lamellar cells using pharmacological agents.
Marine A. Barnabé, Jonathan Elliott, Nicola J. Menzies‐Gow, Simon R. Bailey, Nicholas J. Bamford, Yu‐Mei Chang, Matthew C. Gage   +6 more
wiley   +1 more source

Aberrant splicing of Ca_V1.2 calcium channel induced by decreased Rbfox1 enhances arterial constriction during diabetic hyperglycemia. [PDF]

Cell Mol Life Sci
Hou W, Yin S, Li P, Zhang L, Chen T, Qin D, Mustafa AU, Liu C, Song M, Qiu C, Xiong X, Wang J.   +11 more
europepmc   +1 more source

From Temperature Fluctuations to Precise Control: Biochemical Techniques Integrated Digital‐Intelligent Technology for Vegetable Preservation

Future Postharvest and Food, EarlyView.
The physiological effects and molecular responses of postharvest vegetables to temperature fluctuations, and multi‐technology integration strategies for maintaining postharvest vegetable quality. ABSTRACT Vegetables are indispensable agricultural products in the human diet. With the continuous growth of vegetable production and consumption, postharvest
Shuaishuai Dai, Kuo Chen, Xing Xing, Liqun Ma, Hongliang Zhu   +4 more
wiley   +1 more source

Multi‐Cohort Analysis Reveals Genetic Predispositions to Clonal Hematopoiesis as Mutation‐Specific Risk Factors for Stroke

Advanced Genetics, Volume 6, Issue 1, March 2025.
This study comprehensively evaluated the differential effect of clonal hematopoiesis (CH) mutations on the risk of various stroke subtypes and functional recovery. It shows that TET2 is associated with small vessel stroke possibly via a pro‐inflammatory pathway. Abstract Recent observational studies have found an association between Clonal Hematopoesis
Shuyang Lin, Yang E. Li, Yan Wang
wiley   +1 more source

A Systematic Identification of RBPs Driving Aberrant Splicing in Cancer

Lobato-Fernández C, Gimeno M, Martín AS, Anorbe A, Rubio A, Ferrer-Bonsoms JA.   +5 more
europepmc   +1 more source

A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts. [PDF]

Mol Genet Genomic Med
Wang S, Zhu YM, Xu C, Ding W, Jia H, Bian P, Xu B, Guo Y, Liu X.   +8 more
europepmc   +1 more source

Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare <i>ABCA4</i> Variant in a Child with Early-Onset Stargardt Disease. [PDF]

Cells
Suárez-Herrera N, Li CHZ, Leijsten N, Karjosukarso DW, Corradi Z, Bukkems F, Duijkers L, Cremers FPM, Hoyng CB, Garanto A, Collin RWJ.   +10 more
europepmc   +1 more source