Results 251 to 260 of about 64,155 (301)

A recurrent synonymous KAT6B mutation causes Say‐Barber‐Biesecker/Young‐Simpson syndrome by inducing aberrant splicing

, 2015
Rüstem Yilmaz, Ana Beleza‐Meireles, Susan Price, Renata Maria Souza Oliveira, Christian Kubisch, Jill Clayton‐Smith, Katalin Szakszon, Guntram Borck   +7 more
openalex   +2 more sources

Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling

Developmental Dynamics, EarlyView.
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff, Sandra Schrenk, Kara Soroko, Chhiring Sherpa, Ashok Arasu, Damien Reynaud, Elisa Boscolo   +6 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

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

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 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

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Numerical Simulation of Post‐Yield Hysteretic Behavior of Lap‐Spliced Reinforced Concrete Bridge Pier Walls Under Earthquake Loading

Earthquake Engineering &Structural Dynamics, EarlyView.
ABSTRACT Reinforced concrete pier walls designed before the 1970s often incorporate lap splice in potential plastic‐hinge regions. Previous experimental tests indicate that most of pier walls experienced post‐yield lap splice failure, necessitating a modeling approach that captures not only lap splice strength but also deformation capacity.
Gun Chan Lee, Sujith Mangalathu, Jong‐Su Jeon   +2 more
wiley   +1 more source

Rumen Mycobiome Thiamine Metabolism Contributes to Subacute Rumen Acidosis Tolerance in Goats Through Enhancing Epithelial Cell Proliferation via IGFBP2/IGF1 Axis Activation

Exploration, EarlyView.
Schematic illustration of the mechanism underlying the differences between SARA‐susceptible and SARA‐tolerant dairy goats fed a high‐concentrate diet. SARA‐susceptible goats (HCS) exhibit low rumen pH and metabolic decline, characterized by epithelial inflammation.
Jingyi Xu, Xiaodong Chen, Yi Ma, Jianrong Ren, Guanghao Xu, Peilin Zhang, Wenhao Jia, Quanqiu Deng, Yuquan Xiao, Junhu Yao, Shengru Wu   +10 more
wiley   +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