Article
Genetics & Heredity
Jose Suazo, Carlos Salamanca, Patricio Gonzalez-Hormazabal, Gabriela Caceres-Rojas, Roberto Pantoja, Noemi Leiva, Rosa Pardo
Summary: This study assessed the association between PEMT variants and nonsyndromic cleft lip with or without cleft palate in Chile, as well as the effects of these variants on global DNA methylation. The study found that the variants rs7649 and rs4646409 increased the risk of nonsyndromic cleft lip with or without cleft palate in the Chilean population and led to a decrease in DNA methylation. This suggests that this gene may be involved in this birth defect.
Article
Obstetrics & Gynecology
Jose Suazo, Carlos Salamanca, Gabriela Caceres-Rojas, Patricio Gonzalez-Hormazabal, Roberto Pantoja, Noemi Leiva, Rosa Pardo
Summary: This study assessed the association between polymorphisms within genes involved in vitamin B12 transport and nonsyndromic cleft lip with or without cleft palate (NSCL/P), as well as global DNA methylation in Chile. The results showed that rs780807 in CUBN was associated with NSCL/P, and carriers of the protective allele had lower levels of DNA methylation.
REPRODUCTIVE SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Geon Kang, Seung-Hak Baek, Young Ho Kim, Dong-Hyun Kim, Ji Wan Park
Summary: Recent deep learning algorithms have improved risk classification capabilities, but a suitable feature selection method is needed for genetic studies. In this Korean case-control study of NSCL/P, the GANNE technique showed the highest predictive power among various methods, improving AUC by 23% and 17% compared to PRS and ANN, respectively. Functional validation of genes mapped with input SNPs selected by a genetic algorithm revealed their relevance to NSCL/P risk. GANNE is an efficient method for disease risk classification, but further validation is required for clinical utility in predicting NSCL/P risk.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Tianhui Xu, Mengmeng Du, Xinhua Bu, Donglan Yuan, Zhiping Gu, Pei Yu, Xuefang Li, Jiao Chen, Chunyan Jin
Summary: Cleft lip with or without cleft palate (CL/P) is a common craniofacial anomaly, with unclear pathogenesis. Study on the variation of tumor protein 63 (TP63) revealed its correlation with the phenotype of CL/P. A mutation in TP63 gene was found to be the possible cause of CL/P in the discussed pedigree, providing evidence for clinical diagnosis and the molecular mechanism of TP63 gene in causing nonsyndromic CL/P.
BMC MEDICAL GENOMICS
(2021)
Review
Biochemistry & Molecular Biology
Chihiro Iwaya, Akiko Suzuki, Junichi Iwata
Summary: Cleft lip and palate is a common congenital birth defect with varied causes. Recent studies suggest that non-coding RNAs, specifically microRNAs, may play a role in the development of cleft lip and palate. This review examines the potential of microRNAs as causative mechanisms in humans and mice.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Pediatrics
Carlos Salamanca, Patricio Gonzalez-Hormazabal, Andrea S. Recabarren, Pamela A. Recabarren, Roberto Pantoja, Noemi Leiva, Rosa Pardo, Jose Suazo
Summary: The study identified protective effects of certain intronic SNPs in the MTR gene against nonsyndromic cleft lip with or without cleft palate (NSCL/P) in a Chilean population. These SNPs are associated with decreased MTR enzyme expression, impacting SAM availability for substrate methylation. Functional analyses are needed to confirm these findings.
PEDIATRIC RESEARCH
(2021)
Article
Biochemistry & Molecular Biology
Zhenzhen Fu, Jin Yue, Lingfa Xue, Yaoxiang Xu, Qian Ding, Wenlin Xiao
Summary: In this study, WES was used to screen candidate genes for NSCL/P in children from East China, and the association of LAMA5 gene with NSCL/P was validated through immunohistochemistry and western blotting. The temporal and spatial expressions of LAMA5 during palatal development further demonstrated its involvement.
MOLECULAR GENETICS AND GENOMICS
(2023)
Article
Multidisciplinary Sciences
Shanshan Jia, Qiang Zhang, Yu Wang, Xiaowei Wei, Hui Gu, Dan Liu, Wei Ma, Yiwen He, Wenting Luo, Zhengwei Yuan
Summary: This study found that miRNAs in the plasma of pregnant women can serve as potential biomarkers for diagnosing nonsyndromic cleft lip with palate (nsCLP). Compared to plasma, eight let-7 cluster miRNAs in plasma-derived exosomes showed higher sensitivity and specificity in diagnosing fetal nsCLP. Among them, hsa-let-7a-3p was identified as a better diagnostic indicator and was downregulated in nsCLP fetal lip tissues.
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
(2022)
Article
Nanoscience & Nanotechnology
Dong-Dong Yang, Han-Wen Zheng, Fan-Qi Meng, Yong-Sheng Shi, Tong Xiao, Bo Jin, Yu-Hui Fang, Hong-Wei Tan, Xiang-Jun Zheng
Summary: In this study, a 4,4'-bipyridinium derivative with both photochromism and dynamic afterglow was discovered for the first time. A one-dimensional Cd(II) coordination polymer assembled by the derivative and cadmium chloride exhibited photochromism, room-temperature phosphorescence, and electrochromism. The research also found that the crystal of the coordination polymer underwent single crystal-to-single-crystal transformation during anion exchange.
ACS APPLIED MATERIALS & INTERFACES
(2023)
Article
Biotechnology & Applied Microbiology
Bohui Sun, Yangjia Liu, Wenbin Huang, Qian Zhang, Jiuxiang Lin, Weiran Li, Jieni Zhang, Feng Chen
Summary: The study revealed that a rare VEGFA mutation has adverse effects on cell functions and osteogenesis, impacting palate development. This mutation may lead to nonsyndromic cleft lip with or without cleft palate and provides new insights into the mechanism of VEGFA gene in osteogenesis and palatogenesis.
Article
Physiology
Norliana Ghazali, Normastura Abd Rahman, Azlina Ahmad, Sarina Sulong, Thirumulu Ponnuraj Kannan
Summary: This study identified genetic aberrations involved in the development of nonsyndromic cleft lip and hypodontia, with a significant gain and loss of copy numbers for SKI and FHIT genes in NSCL/P with hypodontia patients compared to noncleft subjects. The findings suggest that copy number variations play an important role in the pathogenesis of NSCL/P with hypodontia.
FRONTIERS IN PHYSIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Xiaofeng Li, Xinze Xu, Luwei Liu, Yu Tian, Yue Gao, Guirong Zhu, Shu Lou, Weijie Zhong, Dandan Li, Yongchu Pan
Summary: This study found that the expression of the long noncoding RNA (lncRNA) MIR31HG was significantly downregulated in patients with nonsyndromic cleft lip with or without cleft palate (NSCL/P) compared to healthy individuals. Additionally, a single nucleotide polymorphism (SNP) in MIR31HG was associated with NSCL/P susceptibility. Functional studies showed that MIR31HG may affect NSCL/P risk through the matrix Gla protein (MGP) signaling pathway. This research reveals a novel lncRNA involved in the development of NSCL/P.
DNA AND CELL BIOLOGY
(2023)
Article
Dentistry, Oral Surgery & Medicine
Aura Sofia Caceres Manfio, Sunjay Suri, Annie Dupuis, Kyle Stevens
Summary: This study found that the maxillary canine in patients with cleft lip and palate may be impacted after secondary alveolar bone grafting. The angulation and position of the canine before the grafting procedure were associated with an increased risk of impaction.
AMERICAN JOURNAL OF ORTHODONTICS AND DENTOFACIAL ORTHOPEDICS
(2022)
Article
Cell Biology
Hiroki Yoshioka, Yurie Mikami, Sai Shankar Ramakrishnan, Akiko Suzuki, Junichi Iwata
Summary: The study indicates that excess intake of all-trans retinoic acid (atRA) causes cleft palate in mice through the induction of miR-124-3p, while miR-27a-3p and miR-27b-3p do not significantly affect cell proliferation.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Li Peng, Zhenmin Niu, Jiapei Chen, Teng Wan, Dandan Wu, Yusheng Yang, Guomin Wang, Lin Yang, Wei Huang, Zhenqi Chen
Summary: This case-control study confirmed the association between ten single-nucleotide polymorphisms (SNPs) in six genes and nonsyndromic cleft lip with or without palate (NSCL/P) in the Chinese population. Specifically, VAX1 rs7078160, MAFB rs11696257, and NTN1 rs4791774 were found to be associated with NSCL/P.
MOLECULAR GENETICS AND GENOMICS
(2022)
