Article
Physics, Multidisciplinary
Keisuke Ishihara, Arghyadip Mukherjee, Elena Gromberg, Jan Brugues, Elly M. Tanaka, Frank Juelicher
Summary: Animal organs exhibit complex topologies involving cavities and tubular networks, which are governed by two distinct modes of topological transitions. These transitions can be regulated through a pharmacologically accessible pathway, enabling control over organ shape and topology.
Article
Cell Biology
Abdel Rahman Abdel Fattah, Sergei Grebenyuk, Laura P. M. H. de Rooij, Idris Salmon, Adrian Ranga
Summary: During tissue patterning, cells undergo changes in cell fate through the action of morphogens at multiple length scales. However, the coordination of cell fate changes and establishment of spatial organization across these scales is not well understood. In this study, human neural tube organoids were used as models to investigate epithelial patterning. An in silico approach was developed to determine the conditions necessary for patterning. The results showed that cells follow a neighborhood watch mechanism, which is determined by the initial positions of morphogen sources, reflecting scale-invariant phenotypes. The study also identified wingless-related integration site (WNT) and bone morphogenic protein (BMP) as inhibitors of patterning, which was validated in vitro. These findings suggest that developing neuroepithelia employ neighborhood watch-based mechanisms to organize morphogen sources, define cellular identity, and establish patterns.
Correction
Cell Biology
Zhongzhong Chen, Yunping Lei, Yufang Zheng, Vanessa Aguiar-Pulido, M. Elizabeth Ross, Rui Peng, Li Jin, Ting Zhang, Richard H. Finnell, Hongyan Wang
Summary: A correction to the paper has been published at the given DOI link.
Article
Biochemical Research Methods
Biying Hu, Dandan Li, Donge Tang, Yu Shangguan, Yuzhi Cao, Ruonan Guo, Shaodong Luan, Chen Yun, Stanislao Morgera, Berthold Hocher, Bernhard K. Kraemer, Yinglan Wang, Lianghong Yin, Yong Dai
Summary: The study identified significantly regulated acetylated proteins in GDM and PE patients, mainly enriched in endoplasmic reticulum stress and ferroptosis pathways. These findings help explore the underlying pathology, new biomarkers, and therapeutic targets of GDM and PE.
Article
Environmental Sciences
Mengyuan Liu, Di Wang, Chengrong Wang, Shengju Yin, Xin Pi, Zhiwen Li, Linlin Wang, Jufen Liu, Chenghong Yin, Lei Jin, Aiguo Ren
Summary: The study suggests that prenatal exposure to higher levels of aluminum may increase the risk of fetal neural tube defects, especially the anencephaly subtype.
Article
Chemistry, Applied
Silvia Pisani, Valeria Calcaterra, Stefania Croce, Rossella Dorati, Giovanna Bruni, Ida Genta, Antonia Avanzini, Marco Benazzo, Gloria Pelizzo, Bice Conti
Summary: This study aims to develop a shape memory engineered scaffold for improving the repair of myelomeningocele, the most common type of spina bifida defect, in fetuses. The engineered scaffold showed good shape memory properties and suitability for the proliferation of MSCs.
REACTIVE & FUNCTIONAL POLYMERS
(2022)
Article
Biochemistry & Molecular Biology
Maria Alicia Carrillo-Sepulveda, Nicole Maddie, Christina Mary Johnson, Cameron Burke, Osina Lutz, Bamwa Yakoub, Benjamin Kramer, Dhandevi Persand
Summary: The study demonstrated that vascular hyperacetylation is associated with vascular smooth muscle cell dysfunction in advanced type 2 diabetes mellitus. Inhibition of hyperacetylation by garcinol reduced high glucose-induced ROS production in VSMCs, highlighting a potential novel therapeutic approach for diabetic vascular complications.
MOLECULAR MEDICINE
(2022)
Article
Cell Biology
J. Michael Salbaum, Kirsten P. Stone, Claudia Kruger, Claudia Kappen
Summary: Maternal diabetes during pregnancy is associated with a higher risk for structural birth defects in the offspring. This study investigated the transcriptomic profiles of yolk sacs and embryos in a mouse model of non-obese diabetic (NOD) mice. The results showed significant gene expression changes in embryos exposed to maternal diabetes, with cholesterol biosynthesis and NAD metabolism pathways being affected.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Genetics & Heredity
Yalan Wang, Yue Qin, Rui Peng, Hongyan Wang
Summary: This study identified novel VCL variations specific to human NTDs, with p.D256fs being a loss-of-function variant and p.L555V showing a gain of function in PCP pathway regulation and cell migration.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Cell Biology
Man Zhang, J. Michael Salbaum, Sydney Jones, David Burk, Claudia Kappen
Summary: Maternal diabetes and obesity in pregnancy increase the risk of birth defects and cardiometabolic diseases in offspring. This study found excessive lipid accumulation in the yolk sacs of embryos from diabetic and obese pregnancies. Lipid processing was defective in pregnancies affected by maternal metabolic disease, leading to reduced availability of lipids for the developing embryo. The implications of insufficient lipid supply to embryos experiencing adverse pregnancy conditions are discussed.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Obstetrics & Gynecology
R. Corroenne, K. H. Zhu, E. Johnson, R. Johnson, W. E. Whitehead, J. Espinoza, J. Castillo, H. Castillo, G. Orman, T. A. G. M. Huisman, A. R. Mehollin-Ray, A. A. Shamshirsaz, A. A. Nassr, M. A. Belfort, M. Sanz Cortes
Summary: This study compared brain findings between large and non-large neural tube defect (NTD) patients. It found that patients with large lesions were more likely to require relaxing incisions postoperatively and had a higher risk of repair dehiscence at birth.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2021)
Article
Neurosciences
Shan Wang, Yubing Zeng, Xuejia He, Fan Liu, Pei Pei, Ting Zhang
Summary: Maternal folate deficiency increases the risk of neural tube defects (NTDs), and our study using a mouse model shows that this is potentially due to altered levels of butyrate acid, key crotonyl-CoA-producing enzymes, and lysine crotonylation. Folate deficiency also leads to proteomic changes and ultrastructural changes in mouse embryonic stem cells (mESCs). These findings suggest that folate deficiency may cause NTDs by altering the expression of ACSS2 and protein crotonylation.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2023)
Review
Obstetrics & Gynecology
Flaminia Vena, Valentina D'Ambrosio, Vanessa Paladini, Enrica Saluzzi, Daniele Di Mascio, Chiara Boccherini, Lorenzo Spiniello, Alessandro Mondo, Antonio Pizzuti, Antonella Giancotti
Summary: Obese pregnant women are at significantly higher risk of NTDs, such as spina bifida, compared with normal weight women. No significant difference was found in overweight and underweight pregnant women when compared with normal weight women.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2022)
Article
Obstetrics & Gynecology
R. Corroenne, M. Yepez, M. Pyarali, R. M. Johnson, W. E. Whitehead, H. A. Castillo, J. Castillo, A. R. Mehollin-Ray, J. Espinoza, A. A. Shamshirsaz, A. A. Nassr, M. A. Belfort, M. S. Cortes
Summary: This study found that predictors for intact motor function at birth and at 12 months in babies who underwent prenatal repair of open spina bifida included absence of clubfeet, intact motor function at different ultrasound evaluations, and having a flat lesion. In the postnatal repair group, intact motor function at birth was the only predictor for intact motor function at 12 months.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Christopher J. Derrick, Emmanuelle Szenker-Ravi, Adrian Santos-Ledo, Ahlam Alqahtani, Amirah Yusof, Lorraine Eley, Alistair H. L. Coleman, Sumanty Tohari, Alvin Yu-Jin Ng, Byrappa Venkatesh, Essa Alharby, Luke Mansard, Marie-Noelle Bonnet-Dupeyron, Anne-Francoise Roux, Christel Vache, Joelle Roume, Patrice Bouvagnet, Naif A. M. Almontashiri, Deborah J. Henderson, Bruno Reversade, Bill Chaudhry
Summary: This study investigates the impact of VANGL2 gene variants on developmental disorders such as heterotaxy, congenital heart disease, and hearing loss. By using zebrafish as a model organism, the researchers demonstrate that these variants disrupt Vangl2 function to varying degrees, potentially due to haploinsufficiency. The findings highlight the importance of understanding the clinical significance of different VANGL2 missense variants in different developmental contexts.
HUMAN MOLECULAR GENETICS
(2023)
Article
Oncology
Chunlei Wan, Xiaozhen Liu, Baoling Bai, Haiyan Cao, Huili Li, Qin Zhang
MOLECULAR MEDICINE REPORTS
(2018)
Article
Genetics & Heredity
Dan Li, Chunlei Wan, Baoling Bai, Haiyan Cao, Changyun Liu, Qin Zhang
MOLECULAR GENETICS & GENOMIC MEDICINE
(2019)
Article
Developmental Biology
Jizhen Zou, Fang Wang, Xueyan Yang, Hongyan Wang, Lee Niswander, Ting Zhang, Huili Li
NEURAL DEVELOPMENT
(2020)
Article
Genetics & Heredity
Qin Zhang, Tanxi Cai, Zonghui Xiao, Dan Li, Chunlei Wan, Xiaodai Cui, Baoling Bai
MOLECULAR GENETICS & GENOMIC MEDICINE
(2020)
Article
Biochemical Research Methods
Qin Zhang, Lihua Wu, Baoling Bai, Dan Li, Ping Xiao, Qi Li, Zhen Zhang, Hui Wang, Long Li, Qian Jiang
Summary: Hirschsprung disease (HSCR) is a complex neurocristopathy characterized by the absence of enteric ganglia in the intestine. Through large-scale proteomic analysis of human colon tissues, differentially expressed proteins were identified in HSCR patients, including those related to neuron projection development. This study sheds new light on the pathogenesis of HSCR and potential therapeutic targets.
MOLECULAR & CELLULAR PROTEOMICS
(2021)
Article
Biochemistry & Molecular Biology
Yan-Hong Gu, Qin Zhang, Jin Guo, Fang Wang, YiHua Bao, ZhiYong Qiu, Ping Zheng, Masaru Ushijima, Masaaki Matsuura, XiangHui Xie, Ting Zhang
Summary: The study identified that abnormal maternal metabolism of homocysteine and thyroid hormones is associated with an increased risk of neural tube defects in fetuses. Additionally, biological interaction between the two pathways was demonstrated through a cell model.
JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY
(2021)
Article
Nutrition & Dietetics
Kexin Zhang, Yanyan Liu, Lingyun Liu, Baoling Bai, Lin Shi, Qin Zhang
Summary: This study analyzed plasma metabolomics characteristics to explore the potential mechanism of hypertension in children. The results showed that children with hypertension had obvious disorders of lipid metabolism, especially in the overweight hypertension group, which led to the occurrence of hypertension. Additionally, the concentration of NO production-related NG,NG-dimethyl-L-arginine was significantly increased, which may play an important role in H-type hypertension in children.
Article
Genetics & Heredity
Baoling Bai, Qian Jiang, Lingyun Liu, Changyun Liu, Qin Zhang
Summary: This study found nine rare mutations in the CECR2 gene that are associated with NTDs through NGS analysis of 373 NTD cases and 222 healthy controls. It also showed that high homocysteine levels can further decrease the expression of CECR2 and synergistically increase the risk of NTDs with CECR2 gene mutations.
FRONTIERS IN GENETICS
(2023)
Article
Genetics & Heredity
Fang Wang, Haiqin Cheng, Qin Zhang, Jin Guo
Summary: This study identified novel missense variants in the TCOF1 gene associated with human neural tube defects (NTDs). Cell-based assays revealed that one variant led to nucleolar disruption and stabilization of p53 protein, suggesting an imbalance in cell apoptosis. These findings provide insights into the pathogenicity of NTDs and identify potential new causative factors.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
