Missense substitutions in the BTB domain of ZBTB24 can lead to protein instability and cause ICF2 syndrome [0.03%]
BTB结构域中的错义突变导致ZBTB24蛋白不稳定性和ICF2综合征产生
Or Givol,Ido S Han,Francesco Cecere et al.
Or Givol et al.
ZBTB24 is a member of a protein family containing a Broad-Complex, Tramtrack, and Bric a Brac (BTB) domain, which functions in protein-protein interactions. ZBTB24, a transcription factor, binds its DNA targets through its C-terminal zinc f...
Exploring erythroid cell transcriptomics to understand regulation of fetal hemoglobin expression for advanced sickle cell disease treatment [0.03%]
探索红细胞转录组学以了解胎儿血红蛋白表达的调节机制并用于治疗重症镰状细胞病
Siana Nkya,Collin Nzunda,Frida Kaywanga et al.
Siana Nkya et al.
Fetal hemoglobin (HbF) modulates the clinical severity of sickle cell disease (SCD) by inhibiting the polymerization of sickle hemoglobin. Elevated HbF levels are associated with milder disease phenotypes, fewer Vaso-occlusive crises, and r...
The dynamic nature of genetic risk for schizophrenia within genes regulated by FOXP1 during neurodevelopment [0.03%]
FOXP1调节的基因在神经发育过程中调控精神分裂症的遗传风险及其动态变化性质
Deema Ali,Gary Donohoe,Derek W Morris
Deema Ali
FOXP1 (Forkhead-box protein P1) is a crucial transcription factor in neural development and is associated with schizophrenia (SCZ). FOXP1-regulated genes may contribute to genetic risk of SCZ and this may vary across different stages of neu...
Widespread intron retention and exon skipping characterise alternative splicing changes in a C. elegans model of spinal muscular atrophy [0.03%]
脊髓性肌萎缩症线虫模型中可变剪接变化的特点是大量内含子滞留和外显子跳读
Saman Rashid,Aykut Shen,Amy Yong et al.
Saman Rashid et al.
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by reduced levels of the survival motor neuron (SMN) protein, an essential component of the RNA splicing machinery. Although disruption of alternative splicing is a well-es...
Observational and Mendelian randomization studies of plasma sclerostin levels do not provide evidence of cardiovascular adverse effects of sclerostin inhibition [0.03%]
关于血浆硬化素水平的观察研究和孟德尔随机化研究不能证明硬化素抑制的心血管不良反应证据
Rosa B Thorolfsdottir,Gardar Sveinbjornsson,Grimur Hjorleifsson Eldjarn et al.
Rosa B Thorolfsdottir et al.
The causal effect of lower plasma sclerostin on cardiovascular disease (CVD) risk has previously been examined with the aim of investigating potential side effects of pharmacological sclerostin inhibition for treatment of osteoporosis. We e...
Single-cell analysis reveals the diversity of human fetal membrane and adjacent placental cells with preterm premature rupture of membranes [0.03%]
单细胞测序揭示了胎膜早破的人类胎儿膜和相邻胎盘细胞的多样性
Congcong Sun,Mao Wu,Zhenzhen Zheng et al.
Congcong Sun et al.
The occurrence of preterm premature rupture of membranes (PPROM) significantly impacts maternal and fetal health due to its association with the cellular composition and genetic changes of the fetal membrane. However, the specific cell type...
Prevalence of germline MSH3 polymorphisms in ulcerative colitis and early-onset colorectal cancer patients that potentiates inflammation-to-cancer transformation [0.03%]
MSH3种系多态性在溃疡性结肠炎和早发性结直肠癌患者中的流行率及其对炎症至癌症转化的促进作用
Stephanie S Tseng-Rogenski,Anand Venugopal,Minoru Koi et al.
Stephanie S Tseng-Rogenski et al.
The DNA mismatch repair protein MSH3 reversibly shifts from nucleus to the cytosol upon IL-6 signaling, abrogating the repair function of the MSH3-MSH2 heterodimer in the nucleus and increases aggressiveness and metastasis potential of colo...
Age-stratified hypertension risk prediction: integrating genetic risk scores with clinical markers in Korean adults [0.03%]
基于遗传风险评分和临床标志物的分年龄段高血压发病预测：以韩国成年人为例
Ximei Huang,Minjoo Kim
Ximei Huang
Background: Hypertension is a prevalent age-related condition with varying life risk factors. This study aimed to develop age-stratified prediction models integrating genetic risk scores (GRS) with clinical factors to imp...
C-terminal extension of HSPB6 in a family with myopathy and cataract [0.03%]
HSPB6羧端延长在肌病和白内障家系中的突变作用分析
Jaakko Sarparanta,Per Harald Jonson,Anna Vihola et al.
Jaakko Sarparanta et al.
The small heat shock protein HSPB6 (a.k.a. Hsp20) is highly expressed in striated and smooth muscles. It modulates the oligomerization of its paralogs HSPB1 and CRYAB (HSPB5) and is involved e.g. in cytoskeletal regulation and autophagy. Wh...
Loss of adenylosuccinate synthetase 1 in mice recapitulates features of ADSS1 myopathy [0.03%]
小鼠腺苷磺酸合成酶1的丢失再现了ADSS1肌病的特点
Morgan E Kim,Kathryn M Yammine,Emily T Hickey et al.
Morgan E Kim et al.
ADSS1 myopathy is an ultrarare congenital myopathy characterized by progressive cardiac and skeletal muscle degeneration with childhood to adolescent onset. This autosomal recessive disease is caused by mutations in the ADSS1 gene, encoding...