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Article ; Online: Identification of Two Variants c.2697A > C and c.3305A > C in USP7 by Analysis of Whole-Exome Sequencing in Chinese Patients with Hao-Fountain Syndrome.

Sun, Mei / Li, Qing / Zhang, Ying / Cai, Yingzi / Dong, Yan / Shu, Jianbo / Li, Dong / Cai, Chunquan

2024 Volume 11, Issue 1, Page(s) 13–19

Abstract: ... ...

Abstract	Background
Language	English
Publishing date	2024-01-16
Publishing country	Germany
Document type	Case Reports
ZDB-ID	3009997-3
ISSN	2699-9404 ; 2699-9404
ISSN (online)	2699-9404
ISSN	2699-9404
DOI	10.1055/s-0043-1778089
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.

van der Laan, Liselot / Karimi, Karim / Rooney, Kathleen / Lauffer, Peter / McConkey, Haley / Caro, Pilar / Relator, Raissa / Levy, Michael A / Bhai, Pratibha / Mignot, Cyril / Keren, Boris / Briuglia, Silvana / Sobering, Andrew K / Li, Dong / Vissers, Lisenka E L M / Dingemans, Alexander J M / Valenzuela, Irene / Verberne, Eline A / Misra-Isrie, Mala /

Zwijnenburg, Petra J G / Waisfisz, Quinten / Alders, Mariëlle / Sailer, Sebastian / Schaaf, Christian P / Mannens, Marcel M A M / Sadikovic, Bekim / van Haelst, Mieke M / Henneman, Peter

Genetics in medicine : official journal of the American College of Medical Genetics

2023 Volume 26, Issue 3, Page(s) 101050

Abstract: Purpose: Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder caused by pathogenic ...

Abstract	Purpose: Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder caused by pathogenic variants in USP7. HAFOUS is characterized by developmental delay, intellectual disability, speech delay, behavioral abnormalities, autism spectrum disorder, seizures, hypogonadism, and mild dysmorphic features. We investigated the phenotype of 18 participants with HAFOUS and performed DNA methylation (DNAm) analysis, aiming to generate a diagnostic biomarker. Furthermore, we performed comparative analysis with known episignatures to gain more insight into the molecular pathophysiology of HAFOUS. Methods: We assessed genomic DNAm profiles of 18 individuals with pathogenic variants and variants of uncertain significance (VUS) in USP7 to map and validate a specific episignature. The comparison between the USP7 cohort and 56 rare genetic disorders with earlier reported DNAm episignatures was performed with statistical and functional correlation. Results: We mapped a sensitive and specific DNAm episignature for pathogenic variants in USP7 and utilized this to reclassify the VUS. Comparative epigenomic analysis showed evidence of HAFOUS similarity to a number of other rare genetic episignature disorders. Conclusion: We discovered a sensitive and specific DNAm episignature as a robust diagnostic biomarker for HAFOUS that enables VUS reclassification in USP7. We also expand the phenotypic spectrum of 9 new and 5 previously reported individuals with HAFOUS.
MeSH term(s)	Humans ; DNA Methylation/genetics ; Autism Spectrum Disorder/genetics ; Ubiquitin-Specific Peptidase 7/genetics ; Epigenomics ; Intellectual Disability/genetics ; Intellectual Disability/diagnosis ; Neurodevelopmental Disorders/genetics ; Phenotype ; Biomarkers ; Abnormalities, Multiple ; Bone Diseases, Developmental ; Deafness ; Craniofacial Abnormalities
Chemical Substances	Ubiquitin-Specific Peptidase 7 (EC 3.4.19.12) ; Biomarkers ; USP7 protein, human (EC 3.4.19.12)
Language	English
Publishing date	2023-12-18
Publishing country	United States
Document type	Journal Article
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1016/j.gim.2023.101050
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Article: Identification of Two Variants c.2697A > C and c.3305A > C in USP7 by Analysis of Whole-Exome Sequencing in Chinese Patients with Hao-Fountain Syndrome

Sun, Mei / Li, Qing / Zhang, Ying / Cai, Yingzi / Dong, Yan / Shu, Jianbo / Li, Dong / Cai, Chunquan

Global Medical Genetics

2024 Volume 11, Issue 01, Page(s) 13–19

Abstract: ... with a neurodevelopmental disorder—Hao-Fountain syndrome, its core symptoms including developmental delay, intellectual disability ... 3) from the proband.: Conclusion: We reported two cases of Hao-Fountain syndrome caused by novel ... the USP7 variants spectrum in Hao-Fountain syndrome. Moreover, we summarize the cases caused by USP7 ...

Abstract	Background: Variants of ubiquitin-specific protease 7 ( USP7 ) gene in humans are associated with a neurodevelopmental disorder—Hao-Fountain syndrome, its core symptoms including developmental delay, intellectual disability, and speech delay. Other variable symptoms can affect multiple systems. In present study, we report two patients with core features from two unrelated consanguineous families originating from the Tianjin Children's Hospital. Methods and Results: Genomic DNA was extracted from the peripheral blood samples collected from the probands with their family members and whole-exome sequencing (WES) was used to detect the pathogenic genes in the probands. Suspected variants were subsequently validated by Sanger sequencing. In family 1, WES revealed that the proband carried the de novo variant c.2697A > C (p.Leu899Phe) in USP7 (NM_003470.3). In family 2, WES identified the variant c.3305A > C (p.Asn1102Thr) in USP7 (NM_003470.3) from the proband. Conclusion: We reported two cases of Hao-Fountain syndrome caused by novel USP7 variants. In addition, we report the first case of mosaicism with a USP7 variant in Chinese family. Our findings demonstrate the importance of WES in diagnosis of genetic diseases and expands the USP7 variants spectrum in Hao-Fountain syndrome. Moreover, we summarize the cases caused by USP7 variants in the literature. Our study can provide a vital reference for the diagnosis of future cases.
Keywords	development delay ; intellectual disability ; whole-exome sequencing ; Hao-Fountain syndrome
Language	English
Publishing date	2024-01-01
Publisher	Georg Thieme Verlag KG
Publishing place	Stuttgart ; New York
Document type	Article
ZDB-ID	3009997-3
ISSN	2699-9404 ; 2699-9404
ISSN (online)	2699-9404
ISSN	2699-9404
DOI	10.1055/s-0043-1778089
Database	Thieme publisher's database

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Article: Toxicological evaluation of aqueous extract of the traditional Chinese formula Qing Hao Gan Cao.

Li, Yongchun / Zhang, Hui / Chen, Shanshan / Zhao, Liutao / Wu, Jie / Li, Pan / Wu, Guanlian / Wang, Qing / Wu, Chunli / Xu, Hongde

Toxicology research

2021 Volume 10, Issue 2, Page(s) 183–191

Abstract: Qing Hao Gan Cao ...

Abstract	Qing Hao Gan Cao
Language	English
Publishing date	2021-02-15
Publishing country	England
Document type	Journal Article
ZDB-ID	2684701-2
ISSN	2045-4538 ; 2045-452X
ISSN (online)	2045-4538
ISSN	2045-452X
DOI	10.1093/toxres/tfaa103
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Article ; Online: Understanding one's character through the voice: Dimensions of personality perception from Chinese greeting word "Ni Hao".

Wu, Qi / Liu, Ying / Li, Dong / Leng, Haizhou / Iqbal, Zahida / Jiang, Zhongqing

The Journal of social psychology

2021 Volume 161, Issue 6, Page(s) 653–663

Abstract: ... participants to evaluate other people's personality from recordings of Chinese vocal greeting word "Ni Hao ...

Abstract	Previous western studies revealed a two-dimensional model (valence and dominance) in voice impressions. To explore the cross-cultural validity of this model, the present study recruited Chinese participants to evaluate other people's personality from recordings of Chinese vocal greeting word "Ni Hao". Principal Component Analysis (PCA) with Varimax Rotation and Parallel Analysis was used to investigate the dimensions underlying personality judgments. The results also revealed a two-dimensional model: approachability and capability. The approachability dimension was similar to the valence dimension reported in a previous study. It indicated that the approachability/valence dimension has cross-cultural commonality. Unlike the dimension of dominance which was closely related to aggressiveness, the dimension of capability emphasized the social aspects of capability such as intellectuality, social skills, and tenacity. In addition, the acoustic parameters that were used to infer the personality of speakers, as well as the relationship between vocal attractiveness and the personality dimensions of voice, were also partially different from the findings in Western culture.
MeSH term(s)	China ; Humans ; Judgment ; Perception ; Personality ; Voice
Language	English
Publishing date	2021-01-07
Publishing country	United States
Document type	Journal Article
ZDB-ID	2066653-6
ISSN	1940-1183 ; 0022-4545
ISSN (online)	1940-1183
ISSN	0022-4545
DOI	10.1080/00224545.2020.1856026
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Article ; Online: Letter by Li and Hao Regarding Article, "Transdifferentiation of Human Fibroblasts to Endothelial Cells: Role of Innate Immunity".

Li, Yangxin / Hao, Chang-Ning

Circulation

2015 Volume 132, Issue 15, Page(s) e196

MeSH term(s)	Animals ; Cell Transdifferentiation/physiology ; Endothelial Cells/physiology ; Fibroblasts/physiology ; Humans ; Immunity, Innate/physiology ; Male
Language	English
Publishing date	2015-10-13
Publishing country	United States
Document type	Comment ; Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	80099-5
ISSN	1524-4539 ; 0009-7322 ; 0069-4193 ; 0065-8499
ISSN (online)	1524-4539
ISSN	0009-7322 ; 0069-4193 ; 0065-8499
DOI	10.1161/CIRCULATIONAHA.114.014723
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Article ; Online: Evaluation of the chemical consistency of Yin-Chen-Hao-Tang prepared by combined and separated decoction methods using high-performance liquid chromatography and quadrupole time-of-flight mass spectrometry coupled with multivariate statistical analysis.

Tian, Qiang / Liu, Fang / Xu, Zhou / Liu, Huan / Yin, Hao / Sun, Zhaolin / Chen, Mingcang / Li, Zhixiong / Ma, Lin / Huang, Chenggang

Journal of separation science

2019 Volume 42, Issue 9, Page(s) 1664–1675

Abstract: In this study, Yin-Chen-Hao-Tang prepared by two decoction methods, namely, combined decoction ...

Abstract	In this study, Yin-Chen-Hao-Tang prepared by two decoction methods, namely, combined decoction (modern decoction method) and separated decoction (traditional decoction method), was analyzed by high-performance liquid chromatography with quadrupole time-of-flight mass spectrometry. The acquired datasets containing sample codes, t
MeSH term(s)	Caffeic Acids/analysis ; Chromatography, High Pressure Liquid/methods ; Discriminant Analysis ; Drugs, Chinese Herbal/analysis ; Iridoids/analysis ; Mass Spectrometry/methods ; Multivariate Analysis
Chemical Substances	Caffeic Acids ; Drugs, Chinese Herbal ; Iridoids ; yin-chen-hao-tang ; geniposide (145295QLXY) ; genipin (A3V2NE52YG) ; caffeic acid (U2S3A33KVM)
Language	English
Publishing date	2019-03-08
Publishing country	Germany
Document type	Evaluation Studies ; Journal Article
ZDB-ID	2047990-6
ISSN	1615-9314 ; 1615-9306
ISSN (online)	1615-9314
ISSN	1615-9306
DOI	10.1002/jssc.201800961
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Article ; Online: Comparative Analysis of the Fecal Microbiota of Relict Gull (Larus relictus) in Mu Us Desert (Hao Tongcha Nur) and Bojiang Haizi in Inner Mongolia, China

Li Liu / Chao Du / Yunpeng Liu / Li Gao

Frontiers in Veterinary Science, Vol

2022 Volume 9

Abstract: The gut microbiota contributes to host health by improving digestive efficiency and maintaining homeostasis. The relict gull (Larus relictus), a national first-class protected bird in China, is listed as vulnerable in the International Union for ... ...

Abstract	The gut microbiota contributes to host health by improving digestive efficiency and maintaining homeostasis. The relict gull (Larus relictus), a national first-class protected bird in China, is listed as vulnerable in the International Union for Conservation of Nature Red List. Here, 16S rRNA gene sequencing was performed to characterize and compare the community composition and diversity of the gut microbiota sampled from relict gulls in two breeding sites. In total, 418 operational taxonomic units (OUTs) were obtained and classified into 15 phyla and 228 genera. Alpha diversity analysis revealed no significant differences in community diversity among the two breeding sites. Beta diversity analyses showed that the microbial communities at the two sites were different. Six dominant phyla and fourteen dominant genera were identified. The most abundant bacterial genera had a significant relationship with the diet and living environment, and some bacterial genera were found to adapt to the plateau environment in which relict gulls live, which enables the relict gulls to use local resources effectively to accumulate energy. Simultaneously, a variety of highly abundant pathogenic bacteria were found, suggesting that these gulls may spread diseases among the local gull population. Certain measures should be taken to protect this species and to prevent the spread of diseases.
Keywords	gut microbiota ; relict gulls ; high-throughput sequencing ; 16S rRNA gene ; Mu Us Desert ; Bojiang Haizi ; Veterinary medicine ; SF600-1100
Subject code	590
Language	English
Publishing date	2022-04-01T00:00:00Z
Publisher	Frontiers Media S.A.
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article: The Study of Yin-Chen-Hao-Tang Preventing and Treating Alcoholic Fatty Liver Disease through PPAR Signaling Pathway Based on Network Pharmacology and RNA-Seq Transcriptomics.

Zhu, Yi-Wei / Li, Du / Ye, Ting-Jie / Qiu, Feng-Jun / Wang, Xiao-Ling / Yan, Xiao-Feng / Lu, Yan-Lin / Xu, Wei / Li, Hua / Hu, Xu-Dong

Evidence-based complementary and alternative medicine : eCAM

2021 Volume 2021, Page(s) 8917993

Abstract: ... course. Yin-Chen-Hao-Tang (YCHT) has a good clinical effect on the treatment of AFLD, but its molecular ...

Abstract	Background: Alcoholic fatty liver disease (AFLD) is the first stage of the alcoholic liver disease course. Yin-Chen-Hao-Tang (YCHT) has a good clinical effect on the treatment of AFLD, but its molecular mechanism has not been elucidated. In this study, we tried to explore the molecular mechanism of YCHT in improving hepatocyte steatosis in AFLD mice through network pharmacology and RNA sequencing (RNA-Seq) transcriptomics. Methods: Network pharmacological methods were used to analyze the potential therapeutic signaling pathways and targets of YCHT on AFLD. Then, the AFLD mice model was induced and YCHT was administered concurrently. Liver injury was measured by serum alanine aminotransferase (ALT) activity and liver tissue H&E staining, and liver steatosis was determined by serum triglyceride (TG) level and liver tissue Oil Red staining. The molecular mechanism of YCHT on prevention and treatment of mice AFLD was investigated according to the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis of the differential expression genes data obtained by liver tissue RNA-Seq. Finally, ethanol-induced AFLD AML12 hepatocyte model was established, YCHT with or without PPAR Results: The results of network pharmacology analysis showed that YCHT may exert its pharmacological effect on AFLD through 312 potential targets which are involved in many signaling pathways including the PPAR signaling pathway. AFLD mice experiments results showed that YCHT markedly decreased mice serum ALT activity and serum TG levels. YCHT also significantly improved alcohol-induced hepatic injury and steatosis in mice livers. Furthermore, KEGG pathway enrichment results of RNA-Seq showed that the PPAR signaling pathway should be the most relevant pathway of YCHT in the prevention and treatment of AFLD. AFLD hepatocyte model experiment results showed that YCHT could remarkably reduce hepatocyte steatosis through reducing PPAR Conclusions: Our study discovered that PPAR
Language	English
Publishing date	2021-12-31
Publishing country	United States
Document type	Journal Article
ZDB-ID	2171158-6
ISSN	1741-4288 ; 1741-427X
ISSN (online)	1741-4288
ISSN	1741-427X
DOI	10.1155/2021/8917993
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Article ; Online: Serum metabolomics strategy for understanding the therapeutic effects of Yin-Chen-Hao-Tang against Yanghuang syndrome.

Liu, Xing-Yuan / Zhang, Ai-Hua / Fang, Heng / Li, Meng-Xi / Song, Qi / Su, Jing / Yu, Meng-Die / Yang, Le / Wang, Xi-Jun

RSC advances

2018 Volume 8, Issue 14, Page(s) 7403–7413

Abstract: Yin-Chen-Hao-Tang (YCHT), a classic Chinese herbal formula, is characterized by its strong ...

Abstract	Yin-Chen-Hao-Tang (YCHT), a classic Chinese herbal formula, is characterized by its strong therapeutic effects of liver regulation and relief of jaundice, especially Yanghuang syndrome (YHS). YHS is a type of jaundice with damp-heat pathogenesis, and it is considered a complicated Chinese medicine syndrome (CMS). The accurate mechanism for healing YHS has not yet been completely reported. The purpose of the current research is to investigate the expression of endogenous biomarkers in YHS mice and evaluate the clinical therapeutic effect of YCHT. Serum samples were analyzed using UPLC-Q/TOF-MS techniques in order to determine differential metabolites to elucidate the functional mechanism of YCHT on YHS through metabolite profiling combined with multivariate analysis. Simultaneously, the exact diversification of YHS mice was elucidated using blood biochemistry indexes and histopathological examination, and the results indicated that YHS is markedly improved by YCHT. Unsupervised principal component analysis (PCA) patterns were constructed to dissect the variances of metabolic profiling. Overall, 22 potential biomarkers were identified using a metabolomics approach based on an accurate MS/MS approach, clustering and distinguishing analysis. The present work demonstrates that the effectiveness of YCHT against YHS prompts distinct discrepancies in metabolic profiles by adjusting biomarkers and regulating metabolic disorders. A total of 15 metabolic pathways were involved in biological disturbance. This demonstrates that metabolomic techniques are powerful means to explore the pathogenesis of CMS and the therapeutic effects of traditional Chinese formulae.
Language	English
Publishing date	2018-02-15
Publishing country	England
Document type	Journal Article
ISSN	2046-2069
ISSN (online)	2046-2069
DOI	10.1039/c7ra11048k
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