Liang Liyang相关文献与解析，生知库 | 链接生命科学的每一步

Platelet desialylation, apoptosis, and T-lymphocyte-mediated immune dysregulation: unveiling the pathways of platelet clearance in platelet transfusion refractoriness

血小板去唾液酸化、细胞凋亡和T淋巴细胞介导的免疫失调：揭示血小板输注无效中血小板清除的途径

期刊:Research and Practice in Thrombosis and Haemostasis

影响因子:3.4

doi:10.1016/j.rpth.2026.103395

Zhou, Yan; Zhong, Zhoulin; Mo, Huihui; Liang, Liyang; Su, Changshan; Chen, Ying; Lu, Fang; Huang, Yuchen; Wu, Guoguang

Sox11 deficiency induces paravertebral muscle injury and scoliosis via Mlxipl upregulation

Sox11缺陷通过Mlxipl上调诱发椎旁肌损伤和脊柱侧弯

期刊:Genes and Diseases

影响因子:

doi:10.1016/j.gendis.2025.101970

Wu, Ruohao; Tang, Wenting; Li, Yu; Deng, Zihao; Zhang, Jing; Li, Xiaojuan; Cao, Chunwei; Liang, Liyang

发表日期：2026

文献求助收藏

Gut microbial GABA imbalance emerges as a metabolic signature in mild autism spectrum disorder linked to overrepresented Escherichia.

肠道微生物 GABA 失衡是轻度自闭症谱系障碍的代谢特征，与大肠杆菌过度表达有关

期刊:Cell Reports Medicine

影响因子:10.6

doi:10.1016/j.xcrm.2024.101919

Wang Dilong, Jiang Youheng, Jiang Jian, Pan Yihang, Yang Yanming, Fang Xiaoyi, Liang Liyang, Li Hai, Dong Zepeng, Fan Shilu, Ma Daqing, Zhang Xue-Song, Li Huiliang, He Yulong, Li Ningning

A Novel Y-Shaped Pegylated Recombinant Human Growth Hormone for Children With Growth Hormone Deficiency.

一种新型Y型聚乙二醇化重组人生长激素，用于治疗儿童生长激素缺乏症

期刊:Journal of Clinical Endocrinology & Metabolism

影响因子:5.1

doi:10.1210/clinem/dgae816

Liang Yan, Wei Haiyan, Yang Fan, Zhang Hua, Chen Linqi, Yao Hui, Luo Xiaoming, Cheng Xinran, Yang Yu, Lian Qun, Du Hongwei, Li Tang, Li Pin, Zhang Gaixiu, Song Fuying, Liang Liyang, Liu Deyun, Zhu Shunye, Gong Haihong, Gong Chunxiu, Cheng Xiangao, Xu Zhuangjian, Ma Yaping, Su Zhe, Zhou Weidong, He Ruoyi, Yin Yalin, Sun Li, Luo Xiaoping

Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs)

建立和验证基于表型的预测模型，用于评估三联体全外显子组测序（trio-WES）在儿童遗传性神经发育障碍（g-NDDs）诊断中的有效性

期刊:Frontiers in Neurology

影响因子:2.8

doi:10.3389/fneur.2025.1574021

Wu, Ruohao; Luo, Xiangyang; Meng, Zhe; Tang, Wenting; Liang, Liyang

Predicting the diagnostic efficacy of trio-based whole exome sequencing in children with low-function autism spectrum disorders: a multicenter study

预测基于三联体全外显子组测序对低功能自闭症谱系障碍儿童的诊断效能：一项多中心研究

期刊:Frontiers in Neurology

影响因子:2.8

doi:10.3389/fneur.2025.1597588

Wu, Ruohao; Luo, Xiangyang; He, Zhanwen; Meng, Zhe; Tang, Wenting; Liang, Liyang

Five-year safety and growth response of long-acting PEGylated recombinant human growth hormone in children with growth hormone deficiency-data from CGLS database

长效聚乙二醇化重组人生长激素治疗生长激素缺乏症患儿五年安全性和生长反应——来自CGLS数据库的数据

期刊:European Journal of Pediatrics

影响因子:2.6

doi:10.1007/s00431-025-06268-5

Wu, Wei; Wei, Haiyan; Du, Hongwei; Liang, Liyang; Gong, Chunxiu; Zhong, Yan; Ma, Liyan; Luo, Feihong; Chen, Ruimin; Huang, Xiaoyan; Ye, Kan; Cui, Yunpu; Wang, Chunlin; Zhu, Min; Wang, Kundi; Zhao, Yufang; Zhang, Huiwen; Xu, Xu; Wu, Haiying; Li, Yuan; Cai, Jin; Zhang, Hongxiao; Ying, Lirong; Chen, Zhihong; Gu, Wei; Liu, Zheng; Li, Yuwen; Zheng, Rongxiu; Wan, Naijun; Li, Guimei; Luo, Jingsi; Ma, Yaping; Chen, Yuqing; Li, Nan; Wang, Tingting; Luo, Xiaoping

Multiple phenotypic traits including developmental impairment in a Chinese family with infantile convulsion and choreoathetosis syndrome: a case study expanding the clinical spectrum of prrt2-related syndrome

中国一个患有婴儿惊厥和舞蹈手足徐动症综合征的家庭中多种表型特征（包括发育障碍）：病例研究拓展了prrt2相关综合征的临床谱

期刊:BMC Pediatrics

影响因子:2

doi:10.1186/s12887-025-06180-9

Wu, Ruohao; Li, Xiaojuan; He, Zhanwen; Meng, Zhe; Liang, Liyang; Tang, Wenting

发育与干细胞

发表日期：2025

文献求助收藏

Case Report: Observation of early-onset high myopia with fundus tessellation changes in Coffin-Siris syndrome 9 (CSS9) and literature review

病例报告：Coffin-Siris综合征9型（CSS9）早期发病伴眼底斑驳改变的高度近视的观察及文献综述

期刊:Frontiers in Pediatrics

影响因子:2

doi:10.3389/fped.2025.1603863

Wu, Ruohao; Li, Yu; He, Zhanwen; Meng, Zhe; Tang, Wenting; Liang, Liyang

发表日期：2025

文献求助收藏

Estrogen deficiency and risk of hearing loss in pediatric Turner syndrome

儿童特纳综合征患者雌激素缺乏与听力丧失风险

Platelet desialylation, apoptosis, and T-lymphocyte-mediated immune dysregulation: unveiling the pathways of platelet clearance in platelet transfusion refractoriness

血小板去唾液酸化、细胞凋亡和T淋巴细胞介导的免疫失调：揭示血小板输注无效中血小板清除的途径

Sox11 deficiency induces paravertebral muscle injury and scoliosis via Mlxipl upregulation

Sox11缺陷通过Mlxipl上调诱发椎旁肌损伤和脊柱侧弯

Gut microbial GABA imbalance emerges as a metabolic signature in mild autism spectrum disorder linked to overrepresented Escherichia.

肠道微生物 GABA 失衡是轻度自闭症谱系障碍的代谢特征，与大肠杆菌过度表达有关

A Novel Y-Shaped Pegylated Recombinant Human Growth Hormone for Children With Growth Hormone Deficiency.

一种新型Y型聚乙二醇化重组人生长激素，用于治疗儿童生长激素缺乏症

Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs)

建立和验证基于表型的预测模型，用于评估三联体全外显子组测序（trio-WES）在儿童遗传性神经发育障碍（g-NDDs）诊断中的有效性

Predicting the diagnostic efficacy of trio-based whole exome sequencing in children with low-function autism spectrum disorders: a multicenter study

预测基于三联体全外显子组测序对低功能自闭症谱系障碍儿童的诊断效能：一项多中心研究

Five-year safety and growth response of long-acting PEGylated recombinant human growth hormone in children with growth hormone deficiency-data from CGLS database

长效聚乙二醇化重组人生长激素治疗生长激素缺乏症患儿五年安全性和生长反应——来自CGLS数据库的数据

Multiple phenotypic traits including developmental impairment in a Chinese family with infantile convulsion and choreoathetosis syndrome: a case study expanding the clinical spectrum of prrt2-related syndrome

中国一个患有婴儿惊厥和舞蹈手足徐动症综合征的家庭中多种表型特征（包括发育障碍）：病例研究拓展了prrt2相关综合征的临床谱

Case Report: Observation of early-onset high myopia with fundus tessellation changes in Coffin-Siris syndrome 9 (CSS9) and literature review

病例报告：Coffin-Siris综合征9型（CSS9）早期发病伴眼底斑驳改变的高度近视的观察及文献综述