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)
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)
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
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
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
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
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
Biochemistry & Molecular Biology
Hoanh Duy Ba Phan, Lam Hoai Phuong, Tran Ngoc Dang, Duong Bich Tram, Hoang Anh Vu
Summary: This study found an association between five SNPs in the IRF6 gene and the risk of NSCL/P in the Vietnamese population. The genotypes of rs2236907, rs2013162, rs2235373, and rs2235375 were found to be associated with an increased risk of NSCL/P.
MOLECULAR BIOLOGY REPORTS
(2023)
Article
Chemistry, Multidisciplinary
Mohammad Khursheed Alam, Ahmed Ali Alfawzan, Fatema Akhter, Haytham Jamil Alswairki, Prabhat Kumar Chaudhari
Summary: This study investigated the variation between non-syndromic cleft lip and/or palate (NSCLP) and non-cleft (NC) subjects in relation to lip morphology (LM) and nasolabial angle (NLA). The results showed significant disparities in LM-1 and NLA between NSCLP and NC individuals.
APPLIED SCIENCES-BASEL
(2022)
Review
Dentistry, Oral Surgery & Medicine
Robert Frederick, Amy Claire Hogan, Natalie Seabolt, Rose Mary S. Stocks
Summary: This article emphasizes the benefits of a multidisciplinary team approach in the systemic management of patients with cleft lip and cleft palate, and suggests the addition of a registered dietitian to the care team. An ideal cleft palate care team should focus on a comprehensive, collaborative, and family-centered approach. While care teams may vary depending on context and location, there are still some key principles.
Article
Clinical Neurology
Shi Wang, Lei Fang, Guofu Miao, Zhichao Li, Bo Rao, Hua Cheng
Summary: This study used surface-based morphometry (SBM) analysis to investigate the structural patterns in speech-rehabilitated children with nonsyndromic cleft lip and palate (NSCLP). The results showed that these children exhibited structural abnormalities in language-related brain regions, particularly in the dominant hemisphere. The cortical thickness and folding in these language-related brain regions may be the neural mechanisms behind speech errors in NSCLP children after speech rehabilitation. The cortical thickness of the parahippocampal gyrus may serve as a biomarker for evaluating pronunciation function.
FRONTIERS IN NEUROLOGY
(2022)
Article
Chemistry, Multidisciplinary
Natalia Kaczorowska, Marcin Mikulewicz
Summary: This paper examines cephalometric parameters in patients with cleft lip and palate and cleft lip, and compares the differences between these patient groups. The results show that cleft palate surgery has an effect on the forward growth of the maxilla.
APPLIED SCIENCES-BASEL
(2022)
Article
Environmental Sciences
Alicja Zawislak, Krzysztof Wozniak, Xabier Agirre, Satish Gupta, Beata Kawala, Anna Znamirowska-Bajowska, Katarzyna Grocholewicz, Jan Lubinski, Felipe Prosper, Anna Jakubowska
Summary: This study found that two SNPs in the ABCA4 gene, rs4147811 and rs560426, are associated with the risk of NSCL/P in the Polish population. The AG genotype of rs4147811 was linked to a decreased risk, while the GG genotype of rs560426 was associated with an increased risk. However, the study had limitations including a small sample size and limited power in detecting complex inheritance patterns.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2021)
Article
Behavioral Sciences
Hua Cheng, Bo Rao, Wenjing Zhang, Renji Chen, Yun Peng
Summary: This study investigated the functional topological pattern of children with NSCLP after speech rehabilitation compared to healthy controls. Results showed significant differences in nodal metrics in language-related brain regions, but similar global network properties, module numbers, and participation coefficient, with increased modularity in the NSCLP group post-rehabilitation.
BRAIN AND BEHAVIOR
(2021)
Article
Cell Biology
Xiaofeng Li, Yu Tian, Ling Qiu, Shu Lou, Guirong Zhu, Yue Gao, Lan Ma, Yongchu Pan
Summary: This study utilized an expression quantitative trait locus (eQTL) dataset to identify multiple associations with the risk of non-syndromic cleft lip with or without cleft palate (NSCL/P). Functional annotation analysis showed that these risk loci were significantly enriched in transcription regulation and chromatin open regions on the genome. Additionally, these susceptible genes were closely related to cell fate determination, the pluripotency of stem cells, and Wnt signaling pathways.
Article
Clinical Neurology
Alessandra Dillenburg, Graeme Ireland, Rebecca K. Holloway, Claire L. Davies, Frances L. Evans, Matthew Swire, Marie E. Bechler, Daniel Soong, Tracy J. Yuen, Gloria H. Su, Julie-Clare Becher, Colin Smith, Anna Williams, Veronique E. Miron
ACTA NEUROPATHOLOGICA
(2018)
Article
Oncology
Wanglong Qiu, Helen E. Remotti, Sophia M. Tang, Elizabeth Wang, Lily Dobberteen, Ayman Lee Youssof, Joo Hee Lee, Edwin C. Cheung, Gloria H. Su
Article
Oncology
Xiang Chen, Jilai Tian, Gloria H. Su, Jiayuh Lin
CURRENT CANCER DRUG TARGETS
(2019)
Article
Oncology
Ling Ma, Jia Wei, Gloria H. Su, Jiayuh Lin
CANCER BIOLOGY & THERAPY
(2019)
Article
Oncology
Han Yan, Wanglong Qiu, Anne K. Koehne de Gonzalez, Ji-Shu Wei, Min Tu, Chun-Hua Xi, Ye-Ran Yang, Yun-Peng Peng, Wei-Yann Tsai, Helen E. Remotti, Yi Miao, Gloria H. Su
Article
Surgery
W. Jung, T. Park, Y. Kim, H. Park, Y. Han, J. He, C. L. Wolfgang, A. Blair, M. F. Rashid, M. D. Kluger, G. H. Su, J. A. Chabot, C-Y Yang, W. Lou, R. Valente, M. Del Chiaro, Y-M Shyr, S-E Wang, N. C. M. van Huijgevoort, M. G. Besselink, Y. Yang, H. Kim, W. Kwon, S-W Kim, J-Y Jang
BRITISH JOURNAL OF SURGERY
(2019)
Article
Oncology
Teena Dhir, Christopher W. Schultz, Aditi Jain, Samantha Z. Brown, Alex Haber, Austin Goetz, Chunhua Xi, Gloria H. Su, Liang Xu, James Posey, Wei Jiang, Charles J. Yeo, Talia Golan, Michael J. Pishvaian, Jonathan R. Brody
MOLECULAR CANCER RESEARCH
(2019)
Editorial Material
Oncology
Jeanine M. Genkinger, Gloria H. Su, Regina M. Santella
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2020)
Article
Oncology
Dario Garcia-Carracedo, Yi Cai, Wanglong Qiu, Kiyoshi Saeki, Richard A. Friedman, Andrew Lee, Yinglu Li, Elizabeth M. Goldberg, Elias E. Stratikopoulos, Ramon Parsons, Chao Lu, Argiris Efstratiadis, Elizabeth M. Philipone, Angela J. Yoon, Gloria H. Su
MOLECULAR CANCER RESEARCH
(2020)
Article
Biochemistry & Molecular Biology
Andrew T. Turk, Dario Garcia-Carracedo, David T. Kent, Elizabeth Philipone, Juana Maria Garcia-Pedrero, Salvatore M. Caruana, Lanny G. Close, Gloria H. Su
Summary: By comparing Stathmin IHC with the expression of other pathway components, we evaluated it as an indicator of PI3K pathway activity. We found a strong correlation between Stathmin IHC and pAKT1 expression, as well as an association with oropharyngeal primary site. There was no correlation with the mutation of the evaluated genes. This suggests the potential relevance of Stathmin IHC in the context of HNSCC.
Meeting Abstract
Gastroenterology & Hepatology
A. Gulla, Q. Wanglong, K. Strupas, G. H. Su
Meeting Abstract
Gastroenterology & Hepatology
W. Jung, T. Park, Y. Kim, H. Park, Y. Han, J. He, C. L. Wolfgang, A. Blair, M. F. Rashid, M. D. Kluger, G. H. Su, J. A. Chabot, C. Yang, W. Lou, R. Valente, M. Del Chiaro, Y. Shyr, S. Wang, N. C. van Huijgevoort, M. G. Besselink, Y. Yang, H. Kim, W. Kwon, S. Kim, J. Jang
Meeting Abstract
Pathology
Anne K. Koehne de Gonzalez, Han Yan, Gloria H. Su, Helen Remotti
Meeting Abstract
Medicine, Research & Experimental
Anne K. Koehne de Gonzalez, Han Yan, Gloria H. Su, Helen Remotti
LABORATORY INVESTIGATION
(2018)
Review
Oncology
Chih-Chieh Yu, Wanglong Qiu, Caroline S. Juang, Mahesh M. Mansukhani, Balazs Halmos, Gloria H. Su