Results 181 to 190 of about 111,505 (240)

On the Verge of Exclusion: The Unique Psychological Profile of the Threat of Social Exclusion

European Journal of Social Psychology, EarlyView.
ABSTRACT Past research, often using Cyberball—an online ball‐tossing game with two or more preprogrammed players—showed that being socially excluded produces various negative emotions and lower need satisfaction. However, in everyday life, people may experience the threat of social exclusion more frequently than actual exclusion. Across two experiments
Tiara R. Widiastuti, Hein T. van Schie, Ilja van Beest, Johan C. Karremans   +3 more
wiley   +1 more source

Clinical Characteristics and Gene Mutations of Hereditary Spherocytosis in 59 Chinese Children. [PDF]

Mol Genet Genomic Med
Li Y, Wang Y, Liu T, Xiao L, Huang L, Zhang Y, Xiang Y, Yu J.   +7 more
europepmc   +1 more source

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

Epileptic Disorders, EarlyView.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source

The nonsense-mediated mRNA decay factor Upf3 negatively regulates bulk autophagy progression in <i>Saccharomyces cerevisiae</i>. [PDF]

Autophagy Rep
Tasmi TA, Solomon E, Avogo EW, Badenahalli Narasimhaiah S, Delorme-Axford E.   +4 more
europepmc   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Recurrent mutations in the stress regulator Cap1 reveal a trade-off between azole resistance and oxidative stress response in Candida albicans. [PDF]

PLoS Biol
Zhou X, Hilk A, Solis NV, Scott N, Zajac C, Filler SG, Selmecki A.   +6 more
europepmc   +1 more source

Recovery of α-L-fucosidase in fucosidosis nonsense variants by readthrough stimulation and release factor degradation.

Dis Model Mech
Bäumges H, Lebeda D, Deppe P, Ilse MB, Thoms S, Lübke T.   +5 more
europepmc   +1 more source

Biallelic MINAR2 variant is associated with nonsyndromic severe to profound sensorineural hearing loss. [PDF]

Hum Genome Var
Almontashiri NAM.
europepmc   +1 more source

Behavioral and epileptic phenotypes in a CHD2‐related developmental delay model

Epilepsia, EarlyView.
Abstract Objective Heterozygous loss‐of‐function mutations in the CHD2 gene, encoding chromodomain helicase DNA‐binding protein 2, are associated with severe childhood onset epilepsy, global developmental delay, and autistic features. Animal models that accurately recapitulate human phenotypes are crucial for understanding rare neurodevelopmental ...
Anat Mavashov, Shaked Turk, Yael Sarusi, Marina Brusel, Rotem Ben Tov Perry, Shir Quinn, Yael Almog, Karni Vilian, Mor Yam, Igor Ulitsky, Moran Rubinstein   +10 more
wiley   +1 more source