Results 71 to 80 of about 679,454 (300)

Prenatal phenotype of Kabuki syndrome: A case series and literature review

, 2021
Objectives: Kabuki syndrome (KS) is a genetic disorder characterized by intellectual disability, facial dysmorphism and congenital anomalies. We aim to investigate the prenatal features of fetuses with KS and to provide a comprehensive review of the ...
Luk, HM, Cheung, KW, Lok, WY, Hau, EW.L., Ho, S, Yu, KPT, Mak, SLA, Chung, MY, Hui, W, Lam, ST.S., So, PL, Cheng, SS.W., Lo, IF.M.   +12 more
core   +1 more source

Drug Repurposing for Treating NCOR‐Related Intellectual Disability

Advanced Science, EarlyView.
An autism‐associated NCOR1 heterozygous mutation upregulates NRGs and activates NRG backward signaling in hypothalamic GABAergic neurons in mouse models, leading to Gabra2 downregulation and cognitive deficits, which can be therapeutically targeted by repurposing FDA‐approved drugs.
Yan Kong, Wenjun Zhou, Yuxiang Sun, Zihan Huang, Zhiyue Liu, Udhaya Kumar. S, Chenyan Li, Yi Lu, Chengchuang Song, Veronica C. Ciliberto, Makenna Mack, Lana E. Kim, Zhaoyong Hu, Fang Luo, Aihua Cao, Zheng Sun   +15 more
wiley   +1 more source

The accuracy of cell‐free fetal DNA‐based non‐invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta‐analysis

BJOG: an International Journal of Obstetrics and Gynaecology, 2017
Cell‐free fetal DNA (cffDNA) non‐invasive prenatal testing (NIPT) is rapidly expanding, and is being introduced at varying rates depending on country and condition.
F. Mackie, K. Hemming, S. Allen, R. Morris, M. Kilby   +4 more
semanticscholar   +1 more source

PBRM1 Deficiency in Microglia Leads to Excessive Neurogenesis and Autism‐Like Behaviors via the CCL5‐CCR1/5‐β‐catenin Signaling Axis

Advanced Science, EarlyView.
Microglial PBRM1 deficiency drives excessive hippocampal neurogenesis by enhancing CCL5–CCR1/5 signaling, leading to autism‐like behaviors. A pro‐inflammatory IL1α+/TNFα+ microglial subset is identified as a key cellular contributor to this process. PBRM1 represses Ccl5 expression at the transcriptional level.
Yang‐Yang Duan, Lin‐Fei Jiao, Pei‐Pei Liu, Chun‐Hui Duan, Xiao Li, Zi‐Han Zhang, Yue‐Qi Zhang, Xin‐Li Ouyang, Hong‐Zhen Du, Sha Liu, Yi Tang, Zhao‐Qian Teng, Chang‐Mei Liu   +12 more
wiley   +1 more source

Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experience

, 2019
What's already known? Prenatal diagnosis of lysosomal storage diseases is important to avoid high morbidity and mortality. What does this study add? Enzyme analysis may be alone used safely for the prenatal diagnosis of lysosomal storage disases.
Canan Unal, Ayse Nur Cakar, Fadıloğlu, Erdem, Erdem Fadiloglu, Incilay Lay, Cakar, Ayse Nur, Hatice Asuman Ozkara, TANAÇAN, ATAKAN, ÜNAL, CANAN, Mehmet Sinan Beksac, Meral Topçu, ÖZKARA, HATİCE ASUMAN, FADILOĞLU, ERDEM, Atakan Tanacan, LAY, İNCİLAY, BEKSAÇ, MEHMET SİNAN, TOPÇU, MERAL   +16 more
core   +1 more source

Maternal Hyperglycemia Disrupts Cerebral Cortex Development Through the Foxp1‐Dll1‐Notch Axis

Advanced Science, EarlyView.
Maternal hyperglycemia disrupts offspring cortical development through a Foxp1–Dll1–Notch signaling axis. In a PGDM mouse model, intrauterine hyperglycemia decreases cortical thickness and perturbs neuronal layering by downregulating Foxp1, which transcriptionally regulates the Notch ligand Dll1.
Longkai He, Ya Jin, Guosheng Liu, Hao Liu, Xinyi Zhu, Weipeng Xu, Wei Li, Meiyao He, Yao Shen, Bingxiao Li, Xuesong Yang, Xiaoyu Wang, Shasha Han   +12 more
wiley   +1 more source

Maternal prenatal substance use and behavior problems among children in the U.S. [PDF]

Prenatal exposure to smoking and alcohol-use is found to be correlated with various adverse consequences for children, including behavior problems. However, it is not clear whether this relationship is an artifact of underlying confounding factors that ...
Sen, Bisakha, Swaminathan, Shailender
core  

Arhgef1 Deletion Disrupts Early Cortical Neurogenesis via PAK1 Overactivation and Causes Motor Dysfunction in Adulthood

Advanced Science, EarlyView.
ARHGEF1 plays a pivotal role in both embryonic cortical neurogenesis and adult motor function. During early development, it governs genesis of deep‐layer cortical neurons by negatively regulating RAC1/CDC42‐PAK1‐Cofilin signaling. In adulthood, ARHGEF1 is important for the maintenance of neuronal morphology and activity in the motor cortex, ensuring ...
Liuren Li, Xuanyue Ma, Zhenyu Ding, Bang Sun, Linglin Liu, Hei Matthew Yip, Wei Wang, Tianying Wu, Yuan Guo, Yinghui Peng, Shiqing Zhang, Jacque Pak Kan Ip, Li Zhang, Keshen Li, Lei Shi   +14 more
wiley   +1 more source

The impact of maternal prenatal and postnatal anxiety on children’s emotional problems: a systematic review

European Child and Adolescent Psychiatry, 2018
Maternal mental health problems during pregnancy and the postnatal period are a major public health issue. Despite evidence that symptoms of both depression and anxiety are common during pregnancy and the postpartum, the impact of maternal anxiety on the
Sarah Rees, S. Channon, C. Waters
semanticscholar   +1 more source

The Changing Association Between Prenatal Participation in WIC and Birth Outcomes in New York City [PDF]

We analyze the relationship between prenatal WIC participation and birth outcomes in New York City from 1988-2001. The analysis is unique for several reasons.
Ted Joyce, Diane Gibson, Silvie Colman
core