Whole-Exome Sequencing Revealed a Novel De Novo Pathogenic EFTUD2 Variant in Mandibulofacial Dysostosis, Guion-Almeida Type: Reinforcing Links to Choanal and Oesophageal Atresia [0.03%]
全外显子组测序发现成纤维细胞生长因子受体 1 结合蛋白新的致病突变：与后鼻孔闭锁和食管闭锁的关系证实
Omid Jazayeri,Nassim Gorjizadeh,Mohammad Reza Salehiomran et al.
Omid Jazayeri et al.
Mandibulofacial dysostosis type Guion-Almeida (MFDGA) is a rare autosomal dominant disorder characterized by malar and mandibular hypoplasia, microcephaly and diverse craniofacial and extracranial malformations, caused by pathogenic variant...
Probiotic Intervention Mitigates Behavioural Effects of Maternal Morphine Exposure in Offspring [0.03%]
益生菌干预缓解母亲海洛因暴露后代的行为影响
Mahsa Sadeghi-Adl,Samira Tarashi,Mohammad Saber Zamani et al.
Mahsa Sadeghi-Adl et al.
Recent research has highlighted the significant influence of the parental environment on offspring behaviour. Evidence suggests that parental exposure to morphine, even before conception, can have long-lasting adverse effects on offspring p...
Evaluation of Nucleated Red Blood Cell Levels in Children With Autism Spectrum Disorder: Relationship With Disorder Severity [0.03%]
自闭症谱系障碍儿童有核红细胞水平的评估：与疾病严重程度的关系
Burçin Özlem Ateş,Pınar Ayaroğlu,Mehmet Ayhan Cöngöloğlu
Burçin Özlem Ateş
Objectives: Autism spectrum disorder (ASD) has a complex aetiology and a heterogeneous clinical presentation. Having easily accessible and interpretable parameters that can be correlated with disorder severity will provid...
Epigenetics, Resilience, Protective Factors and Factors Promoting Positive Outcomes: A Scoping Review [0.03%]
表观遗传、韧性、保护性因素和促进良好结果的因素：系统综述研究
Simone G Assis,Pedro H Tavares,Nayara Oliveira et al.
Simone G Assis et al.
Introduction: While several studies have examined the relationship between adverse social exposures and epigenetic mechanisms, the association between DNA methylation, resilience, protective factors and factors that promo...
Valproic Acid Exposure During the Brain Growth Spurt Leads to Autistic-Like Behaviours in Mice [0.03%]
在大脑生长高峰期暴露于丙戊酸会导致小鼠出现自闭症样的行为反应
Bruna Lotufo-Denucci,Monica Cena de Sousa,Nathan Alesi de Paula Aguiar et al.
Bruna Lotufo-Denucci et al.
Prenatal exposure to valproic acid (VPA) has been associated with an increased risk of autism spectrum disorder (ASD). Studies in rodents have demonstrated that VPA exposure during the first trimester-equivalent period of gestation results ...
Clinical, Genetic and Molecular Divergences Between Full Mutation and Premutation in Fragile X Syndrome: A Systematic Review [0.03%]
脆性X综合征全突变和前突变的临床、遗传及分子差异：系统综述
Hajar Souski,Yousra Benmakhlouf,Mohcine Bennani Mechita
Hajar Souski
Background: Fragile X syndrome (FXS) is the most prevalent inherited form of intellectual disability (ID) and the primary monogenic cause of autism spectrum disorder (ASD) worldwide. The disorder arises from a CGG trinucl...
Therapeutic Effect of LEV in a Propionic Acid-Induced Autism Model via AMPK/SIRT1 Pathway [0.03%]
左乙拉西坦通过AMPK/SIRT1信号通路改善丙酸诱导的自闭症小鼠模型的作用研究
Tarık Mecit,İlknur Altuntaş,Mümin Alper Erdoğan et al.
Tarık Mecit et al.
Objectives: In this study, we aimed to evaluate the therapeutic effect of levetiracetam (LEV), an antiepileptic drug used in the treatment of both focal and generalized epilepsy, in a propionic acid (PPA)-induced autism m...
Identification of a Novel TRIT1 Mutation in a Consanguineous Iranian-Azeri-Turkish Family With Global Developmental Delay [0.03%]
在具有遗传性智力障碍的伊朗阿塞拜疆土耳其近亲婚配家系中鉴定TRIT1新突变
Fatemeh Beyad,Mortaza Bonyadi,Mohammad Barzegar
Fatemeh Beyad
Global developmental delay (GDD) and intellectual disability (ID) affect up to 3% of the paediatric population, with a multifactorial aetiology that complicates genetic identification. To date, over 400 genes have been implicated in GDD. He...
Integrative Analysis of Key Signalling Pathways in Neural Tube Defects: From Molecular Mechanisms to Therapeutic Strategies [0.03%]
神经管缺陷中关键信号通路的整合分析：从分子机制到治疗策略
Jiahao Zheng,Desheng Huo,Kaizhong Wang et al.
Jiahao Zheng et al.
Neural tube defects (NTDs), such as anencephaly and spina bifida, are prevalent congenital anomalies of the central nervous system. These defects can give rise to severe lifelong disabilities and incur substantial healthcare expenses for th...
Bahar Kulu,Pelin Teke Kısa,Esra Er et al.
Bahar Kulu et al.
Niemann-Pick disease type C (NPC) is a lysosomal storage disorder characterized by progressive neurological deterioration. Although there is no curative treatment, early initiation of miglustat, prior to significant neurological decline, ma...