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  1. Article ; Online: Contactin 6, A Novel Causative Gene for Congenital Hypothyroidism, Mediates Thyroid Hormone Biosynthesis Through Notch Signaling.

    Zhang, Hai-Yang / Wu, Feng-Yao / Zhang, Cao-Xu / Wu, Chen-Yang / Cui, Ren-Jie / Liu, Xiao-Yu / Yang, Liu / Zhang, Yue / Sun, Feng / Cheng, Feng / Yang, Rui-Meng / Song, Huai-Dong / Zhao, Shuang-Xia

    Thyroid : official journal of the American Thyroid Association

    2024  Volume 34, Issue 3, Page(s) 324–335

    Abstract: Background: ...

    Abstract Background:
    MeSH term(s) Humans ; Animals ; Mice ; Congenital Hypothyroidism/genetics ; Dual Oxidases/genetics ; HEK293 Cells ; Mutation ; Iodide Peroxidase/genetics ; Thyroid Hormones ; Contactins/genetics
    Chemical Substances Dual Oxidases (EC 1.11.1.-) ; Iodide Peroxidase (EC 1.11.1.8) ; Thyroid Hormones ; Contactins
    Language English
    Publishing date 2024-02-12
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1086044-7
    ISSN 1557-9077 ; 1050-7256
    ISSN (online) 1557-9077
    ISSN 1050-7256
    DOI 10.1089/thy.2023.0594
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    Zs.A 3307: Show issues Location:
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  2. Article ; Online: TSHR

    Zhang, Hai-Yang / Wu, Feng-Yao / Li, Xue-Song / Tu, Ping-Hui / Zhang, Cao-Xu / Yang, Rui-Meng / Cui, Ren-Jie / Wu, Chen-Yang / Fang, Ya / Yang, Liu / Song, Huai-Dong / Zhao, Shuang-Xia

    Annals of laboratory medicine

    2024  Volume 44, Issue 4, Page(s) 343–353

    Abstract: Background: Genetic defects in the human thyroid-stimulating hormone (TSH) receptor (: Methods: In total, 367 patients with CH were recruited for : Results: Among the 367 patients with CH, 17 : Conclusions: We found a high frequency ... ...

    Abstract Background: Genetic defects in the human thyroid-stimulating hormone (TSH) receptor (
    Methods: In total, 367 patients with CH were recruited for
    Results: Among the 367 patients with CH, 17
    Conclusions: We found a high frequency of
    MeSH term(s) Humans ; China ; Congenital Hypothyroidism/diagnosis ; Congenital Hypothyroidism/genetics ; Cyclic AMP ; Dual Oxidases/genetics ; Mutation ; Phenotype ; Receptors, Thyrotropin/genetics ; Thyrotropin
    Chemical Substances Cyclic AMP (E0399OZS9N) ; Dual Oxidases (EC 1.11.1.-) ; Receptors, Thyrotropin ; Thyrotropin (9002-71-5) ; TSHR protein, human
    Language English
    Publishing date 2024-03-04
    Publishing country Korea (South)
    Document type Journal Article
    ZDB-ID 2677441-0
    ISSN 2234-3814 ; 2234-3814
    ISSN (online) 2234-3814
    ISSN 2234-3814
    DOI 10.3343/alm.2023.0337
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  3. Article ; Online: Identification of Eukaryotic Translation Initiation Factor 4B as a Novel Candidate Gene for Congenital Hypothyroidism.

    Sun, Feng / Zhang, Rui-Jia / Fang, Ya / Yan, Cheng-Yan / Zhang, Chang-Run / Wu, Feng-Yao / Yang, Rui-Meng / Han, Bing / Song, Huai-Dong / Zhao, Shuang-Xia

    The Journal of clinical endocrinology and metabolism

    2024  

    Abstract: Context: Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates, but its etiology is still poorly understood.: Objective: We performed whole exome sequencing to identify novel causative gene for CH and functional studies to ... ...

    Abstract Context: Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates, but its etiology is still poorly understood.
    Objective: We performed whole exome sequencing to identify novel causative gene for CH and functional studies to validate its role in the occurrence of CH.
    Methods: Whole exome sequencing in 98 CH patients not harboring known CH candidate genes and bioinformatic analysis were performed. Functional analysis was performed using morpholino, a synthetic short antisense oligonucleotide that contains 25 DNA bases on a methylene morpholine backbone, in zebrafish and CRISPR‒Cas9-mediated gene knockout in mice.
    Results: Eukaryotic translation initiation factor 4B (EIF4B) was identified as the most promising candidate gene. The EIF4B gene was inherited in an autosomal recessive model, and one patient with thyroid dysgenesis carried EIF4B biallelic variants (p.S430F/p.P328L). In zebrafish, the knockdown of eif4ba/b expression caused thyroid dysgenesis and growth retardation. Thyroid hormone levels were significantly decreased in morphants compared with controls. Thyroxine treatment in morphants partially rescued growth retardation. In mice, the homozygous conceptuses of Eif4b+/- parents did not survive. Eif4b knockout embryos showed severe growth retardation, including thyroid dysgenesis and embryonic lethality before E18.5.
    Conclusion: These experimental data supported a role for EIF4B function in the pathogenesis of the hypothyroid phenotype seen in CH patients. Our work indicated that EIF4B was identified as a novel candidate gene in CH. EIF4B is essential for animal survival, but further studies are needed to validate its role in the pathogenesis of CH.
    Language English
    Publishing date 2024-04-24
    Publishing country United States
    Document type Journal Article
    ZDB-ID 3029-6
    ISSN 1945-7197 ; 0021-972X
    ISSN (online) 1945-7197
    ISSN 0021-972X
    DOI 10.1210/clinem/dgae270
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    Uh III Zs.134: Show issues Location:
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  4. Article ; Online: Structure searches and superconductor discovery in XB

    Meng, Jingjing / Zheng, Pengyu / Peng, Yiran / Liu, Rui / Yang, Ying / Yin, Zhiping

    RSC advances

    2024  Volume 14, Issue 15, Page(s) 10507–10515

    Abstract: With extensive structure searches for ... ...

    Abstract With extensive structure searches for XB
    Language English
    Publishing date 2024-04-02
    Publishing country England
    Document type Journal Article
    ISSN 2046-2069
    ISSN (online) 2046-2069
    DOI 10.1039/d3ra08746h
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  5. Article: The

    Yan, Chen-Yan / Wu, Feng-Yao / Sun, Feng / Fang, Ya / Zhang, Rui-Jia / Zhang, Chang-Run / Zhang, Cao-Xu / Wang, Zheng / Yang, Rui-Meng / Yang, Liu / Dong, Mei / Zhang, Qian-Yue / Ye, Xiao-Ping / Song, Huai-Dong / Zhao, Shuang-Xia

    Frontiers in endocrinology

    2023  Volume 14, Page(s) 920548

    Abstract: Background: ISL LIM homeobox 2, also known as insulin gene enhancer protein ISL-2 (: Methods: We used the CRISPR/Cas9 system to successfully establish homozygous : Results: The : Conclusions: In summary, ...

    Abstract Background: ISL LIM homeobox 2, also known as insulin gene enhancer protein ISL-2 (
    Methods: We used the CRISPR/Cas9 system to successfully establish homozygous
    Results: The
    Conclusions: In summary,
    MeSH term(s) Animals ; Pituitary Gland/metabolism ; Thyroid Hormones/metabolism ; Transcription Factors/genetics ; Transcription Factors/metabolism ; Zebrafish/metabolism ; Zebrafish Proteins/genetics ; Zebrafish Proteins/metabolism
    Chemical Substances Thyroid Hormones ; Transcription Factors ; Zebrafish Proteins ; isl2a protein, zebrafish
    Language English
    Publishing date 2023-02-07
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2592084-4
    ISSN 1664-2392
    ISSN 1664-2392
    DOI 10.3389/fendo.2023.920548
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  6. Article ; Online: Myeloid cells interact with a subset of thyrocytes to promote their migration and follicle formation through NF-κB.

    Yang, Rui-Meng / Song, Shi-Yang / Wu, Feng-Yao / Yang, Rui-Feng / Shen, Yan-Ting / Tu, Ping-Hui / Wang, Zheng / Zhang, Jun-Xiu / Cheng, Feng / Gao, Guan-Qi / Liang, Jun / Guo, Miao-Miao / Yang, Liu / Zhou, Yi / Zhao, Shuang-Xia / Zhan, Ming / Song, Huai-Dong

    Nature communications

    2023  Volume 14, Issue 1, Page(s) 8082

    Abstract: The pathogenesis of thyroid dysgenesis (TD) is not well understood. Here, using a combination of single-cell RNA and spatial transcriptome sequencing, we identify a subgroup of NF-κB-activated thyrocytes located at the center of thyroid tissues in ... ...

    Abstract The pathogenesis of thyroid dysgenesis (TD) is not well understood. Here, using a combination of single-cell RNA and spatial transcriptome sequencing, we identify a subgroup of NF-κB-activated thyrocytes located at the center of thyroid tissues in postnatal mice, which maintained a partially mesenchymal phenotype. These cells actively protruded out of the thyroid primordium and generated new follicles in zebrafish embryos through continuous tracing. Suppressing NF-κB signaling affected thyrocyte migration and follicle formation, leading to a TD-like phenotype in both mice and zebrafish. Interestingly, during thyroid folliculogenesis, myeloid cells played a crucial role in promoting thyrocyte migration by maintaining close contact and secreting TNF-α. We found that cebpa mutant zebrafish, in which all myeloid cells were depleted, exhibited thyrocyte migration defects. Taken together, our results suggest that myeloid-derived TNF-α-induced NF-κB activation plays a critical role in promoting the migration of vertebrate thyrocytes for follicle generation.
    MeSH term(s) Animals ; Mice ; Myeloid Cells ; NF-kappa B ; Thyroid Epithelial Cells ; Tumor Necrosis Factor-alpha ; Zebrafish
    Chemical Substances NF-kappa B ; Tumor Necrosis Factor-alpha ; Nfkb1 protein, mouse (147257-52-1)
    Language English
    Publishing date 2023-12-06
    Publishing country England
    Document type Journal Article
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-023-43895-8
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  7. Article ; Online: Protocol for quantitative evaluation of misfolded protein degradation using Agrobacterium-mediated expression system in Nicotiana benthamiana.

    Cheng, Yang / Meng, Rui / Niu, Siqi / Peng, Hao / Jing, Maofeng

    STAR protocols

    2024  Volume 5, Issue 2, Page(s) 103034

    Abstract: Cellular protein homeostasis is maintained by the disposal of aggregated misfolded proteins. Here, we present a protocol for investigating the involvement of the proteins of interest in misfolded protein degradation via Agrobacterium-mediated transient ... ...

    Abstract Cellular protein homeostasis is maintained by the disposal of aggregated misfolded proteins. Here, we present a protocol for investigating the involvement of the proteins of interest in misfolded protein degradation via Agrobacterium-mediated transient expression in Nicotiana benthamiana. We describe in detail the steps of misfolded protein design, transient protein expression in N. benthamiana, subsequent total protein extraction, and quantification of misfolded proteins through western blotting. This generalizable system can be used for misfolded proteins derived from various plants or microbes. For complete details on the use and execution of this protocol, please refer to Ai et al.
    Language English
    Publishing date 2024-04-24
    Publishing country United States
    Document type Journal Article
    ISSN 2666-1667
    ISSN (online) 2666-1667
    DOI 10.1016/j.xpro.2024.103034
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  8. Article ; Online: Genetic screening and functional analysis of TPO variants in Chinese patients with congenital hypothyroidism.

    Zhang, Hai-Yang / Wu, Feng-Yao / Li, Xue-Song / Zhang, Cao-Xu / Tu, Ping-Hui / Yang, Rui-Meng / Liu, Xiao-Yu / Cui, Ren-Jie / Yang, Liu / Wu, Chen-Yang / Zhang, Rui-Jia / Fang, Ya / Sun, Feng / Liang, Jun / Cheng, Feng / Song, Huai-Dong / Zhao, Shuang-Xia

    Hormone research in paediatrics

    2023  

    Abstract: Introduction: Congenital hypothyroidism (CH), the most common neonatal endocrine disorder world-wide, can be caused by variants in the thyroid peroxidase (TPO) gene. This study aimed to identify TPO variants in Chinese patients with CH, analyze their ... ...

    Abstract Introduction: Congenital hypothyroidism (CH), the most common neonatal endocrine disorder world-wide, can be caused by variants in the thyroid peroxidase (TPO) gene. This study aimed to identify TPO variants in Chinese patients with CH, analyze their impact on TPO function, and establish relationships between TPO genotypes and clinical characteristics.
    Methods: A total of 328 patients with CH were screened for TPO variants by performing whole exome sequencing. The function of the detected TPO variants was investigated via transfection assays in vitro. The pathogenic effect of five novel variants was further assessed in silico.
    Results: Among 328 patients with CH, 19 TPO variants, including six novel ones, were identified in 43 patients. Eighteen patients (5.5%) carried biallelic TPO variants. In vitro experiments showed that TPO activity was impaired to varying degrees in 17 variants. Furthermore, we determined that a residual TPO enzyme activity threshold of 15% may serve as a criterion for differentiating CH severity.
    Conclusions: According to our study, the prevalence of TPO variants among Chinese patients with CH was 13.1 %. Five novel variants led to impaired TPO function by altering its structure or by affecting its expression or cellular localization, which should result in impaired thyroid hormone synthesis.
    Language English
    Publishing date 2023-09-13
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2537278-6
    ISSN 1663-2826 ; 1663-2818
    ISSN (online) 1663-2826
    ISSN 1663-2818
    DOI 10.1159/000533969
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    Zs.A 414: Show issues Location:
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  9. Article ; Online: Erratum: [Corrigendum] MicroRNA‑23a inhibits endometrial cancer cell development by targeting SIX1.

    Li, Hong-Lin / Sun, Jun-Jie / Ma, Hui / Liu, Shen-Jia / Li, Na / Guo, Su-Jie / Shi, Yang / Xu, Yan-Ying / Qi, Zhi-Ying / Wang, Yu-Quan / Wang, Fang / Guo, Rui-Meng / Liu, Dong / Xue, Feng-Xia

    Oncology letters

    2023  Volume 26, Issue 4, Page(s) 445

    Abstract: This corrects the article DOI: 10.3892/ol.2019.10694.]. ...

    Abstract [This corrects the article DOI: 10.3892/ol.2019.10694.].
    Language English
    Publishing date 2023-08-29
    Publishing country Greece
    Document type Published Erratum
    ZDB-ID 2573196-8
    ISSN 1792-1082 ; 1792-1074
    ISSN (online) 1792-1082
    ISSN 1792-1074
    DOI 10.3892/ol.2023.14032
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  10. Article ; Online: Unpacking the Gap Box Against Data-Free Knowledge Distillation.

    Wang, Yang / Qian, Biao / Liu, Haipeng / Rui, Yong / Wang, Meng

    IEEE transactions on pattern analysis and machine intelligence

    2024  Volume PP

    Abstract: Data-free knowledge distillation (DFKD) improves the student model (S) by mimicking the class probability from a pre-trained teacher model (T) without training data. Under such setting, an ideal scenario is that T can help generate "good" samples from a ... ...

    Abstract Data-free knowledge distillation (DFKD) improves the student model (S) by mimicking the class probability from a pre-trained teacher model (T) without training data. Under such setting, an ideal scenario is that T can help generate "good" samples from a generator (G) to maximally benefit S. However, existing arts suffer from the non-ideal generated samples under the disturbance of the gap (i.e., either too large or small) between the class probabilities of T and S; for example, the generated samples with too large gap may exhibit excessive information for S, while too small gap leads to the limited knowledge in the samples, resulting into the poor generalization. Meanwhile, they fail to judge the "goodness" of the generated samples for S since the fixed T is not necessarily ideal. In this paper, we aim to answer what is inside the gap box; together with how to yield "good" generated samples for DFKD? To this end, we propose a Gap-Sensitive Sample Generation (GapSSG) approach, by revisiting the empirical distilled risk from a data-free perspective, which confirms the existence of an ideal teacher (T
    Language English
    Publishing date 2024-03-20
    Publishing country United States
    Document type Journal Article
    ISSN 1939-3539
    ISSN (online) 1939-3539
    DOI 10.1109/TPAMI.2024.3379505
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