Full Text Journal Articles by
Author Bingbing Wu

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Bronchopulmonary Dysplasia Predicted by Developing a Machine Learning Model of Genetic and Clinical Information.

Dan Dai, Huiyao Chen, Xinran Dong, Jinglong Chen, Mei Mei, Yulan Lu, Lin Yang, Bingbing Wu, Yun Cao, Jin Wang, Wenhao Zhou, Liling Qian,

<h4>Background</h4>An early and accurate evaluation of the risk of bronchopulmonary dysplasia (BPD) in premature infants is pivotal in implementing preventive strategies. The risk prediction models nowadays for BPD risk that included only clinical factors but without genetic factors are either too complex without practicability or provide poor-to-moderate discrimination. We aim ... Read more >>

Front Genet (Frontiers in genetics)
[2021, 12:689071]

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Combining Metagenomic Sequencing With Whole Exome Sequencing to Optimize Clinical Strategies in Neonates With a Suspected Central Nervous System Infection.

Mengmeng Ge, Mingyu Gan, Kai Yan, Feifan Xiao, Lin Yang, Bingbing Wu, Mili Xiao, Yin Ba, Rong Zhang, Jin Wang, Guoqiang Cheng, Laishuan Wang, Yun Cao, Wenhao Zhou, Liyuan Hu,

<h4>Objectives</h4>Central nervous system (CNS) infection has a high incidence and mortality in neonates, but conventional tests are time-consuming and have a low sensitivity. Some rare genetic diseases may have some similar clinical manifestations as CNS infection. Therefore, we aimed to evaluate the performance of metagenomic next-generation sequencing (mNGS) in diagnosing ... Read more >>

Front Cell Infect Microbiol (Frontiers in cellular and infection microbiology)
[2021, 11:671109]

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Mass cytometry and transcriptomic profiling reveal body-wide pathology induced by Loxl1 deficiency.

Yu Li, Bingbing Wu, Chengrui An, Deming Jiang, Lin Gong, Yanshan Liu, Yixiao Liu, Jun Li, Hongwei Ouyang, XiaoHui Zou,

<h4>Objective</h4>The loss of LOXL1 expression reportedly leads to the prolapse of pelvic organs or to exfoliation syndrome glaucoma. Increasing evidence suggests that LOXL1 deficiency is associated with the pathogenesis of several other diseases. However, the characterization of the systemic functions of LOXL1 is limited by the lack of relevant investigative ... Read more >>

Cell Prolif (Cell proliferation)
[2021, 54(7):e13077]

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Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Dan Dai, Mei Mei, Liyuan Hu, Yun Cao, Xiaochuan Wang, Libo Wang, Yulan Lu, Lin Yang, Xinran Dong, Huijun Wang, Bingbing Wu, Liling Qian,

<h4>Objective</h4>This study aimed to investigate the prevalence and clinical characteristics of monogenic disease in paediatric patients with a predominant respiratory phenotype.<h4>Methods</h4>Exome sequencing was performed in a cohort of 971 children with a predominant respiratory phenotype and suspected genetic aetiology. A total of 140 positive cases were divided into subgroups based ... Read more >>

Arch Dis Child (Archives of disease in childhood)
[2021, :]

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Case Report: Complete Maternal Uniparental Isodisomy of Chromosome 5 (iUPD(5)mat) With PCSK1 Nonsense Variant in an Infant With Recurrent Diarrhea.

Yanyan Qian, Bingbing Wu, Renchao Liu, Yulan Lu, Ping Zhang, Caihong Shao, Ying Huang, Huijun Wang,

Congenital diarrhea diseases are a heterogeneous group of conditions and are the major cause of neonatal mortality worldwide. Proprotein convertase 1/3 (PC1/3) deficiency has been associated with severe malabsorptive diarrhea, obesity, and certain endocrine abnormalities. We report an infant born to non-consanguineous parents who is diagnosed with PC1/3 deficiency due ... Read more >>

Front Genet (Frontiers in genetics)
[2021, 12:668326]

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Diagnostic and clinical utility of genetic testing in children with kidney failure.

Jing Chen, Fang Lin, Yihui Zhai, Chunyan Wang, Bingbing Wu, Duan Ma, Jia Rao, Jiaojiao Liu, Jialu Liu, Minghui Yu, Qian Shen, Hong Xu,

<h4>Background</h4>Genetic kidney disease is well established as an important cause of pediatric kidney failure, and genetic testing might increase diagnostic accuracy, but evidence is limited. This study was conducted to determine the diagnostic yield and clinical impact of genetic testing for children with kidney failure.<h4>Methods</h4>Patients who were diagnosed with kidney ... Read more >>

Pediatr Nephrol (Pediatric nephrology (Berlin, Germany))
[2021, :]

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Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project.

Bingbing Wu, Wenqing Kang, Yingyuan Wang, Deyi Zhuang, Liping Chen, Long Li, Yajie Su, Xinnian Pan, Qiufen Wei, Zezhong Tang, Yangfang Li, Jin Gao, Rui Cheng, Wei Zhou, Zhangxing Wang, Gang Qiu, Jian Wang, Lin Yang, Ping Zhang, Xuemei Zhao, Yao Wang, Mingyu Gan, Gang Li, Renchao Liu, Qi Ni, Feifan Xiao, Kai Yan, Yun Cao, Guoping Lu, Yulan Lu, Huijun Wang, Wenhao Zhou,

<h4>Objectives</h4>To determine the diagnostic and clinical utility of trio-rapid genome sequencing in critically ill infants.<h4>Design</h4>In this prospective study, samples from critically ill infants were analyzed using both proband-only clinical exome sequencing and trio-rapid genome sequencing (proband and biological parents). The study occurred between April 2019 and December 2019.<h4>Setting</h4>Thirteen member hospitals ... Read more >>

Crit Care Med (Critical care medicine)
[2021, :]

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Genetic identification of pathogenic variations of the DMD gene: a retrospective study from 10,481 neonatal patients based on next-generation sequencing data.

Tiantian Xiao, Bingbing Wu, Yun Cao, Renchao Liu, Guoqiang Cheng, Laishuan Wang, Deyi Zhuang, Zhengyan Zhao, Huijun Wang, Wenhao Zhou,

<h4>Background</h4>An elevated level of creatine kinase (CK) is usually the primary screening marker for Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD). This study investigated the clinical application of next-generation sequencing (NGS) in newborns with a possible diagnosis of DMD/BMD in the neonatal intensive care unit (NICU).<h4>Methods</h4>NGS data from the NICU ... Read more >>

Ann Transl Med (Annals of translational medicine)
[2021, 9(9):766]

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Essential Role of CFAP53 in Sperm Flagellum Biogenesis.

Bingbing Wu, Xiaochen Yu, Chao Liu, Lina Wang, Tao Huang, Gang Lu, Zi-Jiang Chen, Wei Li, Hongbin Liu,

The sperm flagellum is essential for male fertility. Despite vigorous research progress toward understanding the pathogenesis of flagellum-related diseases, much remains unknown about the mechanisms underlying the flagellum biogenesis itself. Here, we show that the cilia and flagella associated protein 53 (<i>Cfap53</i>) gene is predominantly expressed in testes, and it ... Read more >>

Front Cell Dev Biol (Frontiers in cell and developmental biology)
[2021, 9:676910]

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Overdosage of HNF1B Gene Associated With Annular Pancreas Detected in Neonate Patients With 17q12 Duplication.

Feifan Xiao, Xiuyun Liu, Yulan Lu, Bingbing Wu, Renchao Liu, Bo Liu, Kai Yan, Huiyao Chen, Guoqiang Cheng, Laishuan Wang, Qi Ni, Gang Li, Ping Zhang, Xiaomin Peng, Yun Cao, Chun Shen, Huijun Wang, Wenhao Zhou,

The annular pancreas (AP) is a congenital anomaly of the pancreas that can cause acute abdominal pain and vomiting after birth. However, the genetic cause of AP is still unknown, and no study has reported AP in patients with 17q12 duplication. This study retrospectively analyzed the next-generation sequencing (NGS) data ... Read more >>

Front Genet (Frontiers in genetics)
[2021, 12:615072]

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Identification of TSC2 mosaic mutation limited to cortical tuber with TSC targeted sequencing: a case report and literature review.

Yuanfeng Zhou, Xinhua Wang, Ji Wang, Yifeng Ding, Yi Wang, Hao Li, Rui Zhao, Bingbing Wu,

<h4>Background</h4>Tuberous sclerosis complex (TSC) is an autosomal dominant disorder, mainly in childhood presents epilepsy due to cortical tubers. TSC1/TSC2 pathogenic variants cannot be detected in regular molecular genetic testing in around 10-15% of TSC patients.<h4>Methods</h4>We analyzed TSC genes in both cortical tuber, blood and skin samples from a pediatric patient ... Read more >>

Childs Nerv Syst (Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery)
[2021, :]

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A novel 333 bp deletion of IL10RA in Chinese patients with neonatal-onset inflammatory bowel disease.

Xiaomin Peng, Yulan Lu, Bingbing Wu, Xinran Dong, Wenbin Li, Huijun Wang, Ying Huang, Wenhao Zhou,

J Clin Immunol (Journal of clinical immunology)
[2021, 41(5):1095-1098]

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Essential role of CFAP53 in sperm flagellum biogenesis

Bingbing Wu, Xiaochen Yu, Chao Liu, Lina Wang, Tao Huang, Gang Lu, Zi-Jiang Chen, Wei Li, Hongbin Liu,

The sperm flagellum is essential for male fertility. Despite vigorous research progress towards understanding the pathogenesis of flagellum-related diseases, much remains unknown about the mechanisms underlying the flagellum biogenesis itself. Here, we show that the cilia and flagella associated protein 53 ( Cfap53 ) gene is predominantly expressed in testes, ... Read more >>

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Predictive Prenatal Diagnosis for Infantile-onset Inflammatory Bowel Disease Because of Interleukin-10 Signalling Defects.

Ziqing Ye, Wenhui Hu, Bingbing Wu, Yueping Zhang, Caixia Lei, Isabelle Williams, Dror S Shouval, Hirokazu Kanegane, Kyung Mo Kim, Lissy de Ridder, Neil Shah, Galina Ling, Baruch Yerushalmi, Daniel Kotlarz, Scott Snapper, Ruth Horn, Christoph Klein, Aleixo M Muise, Ying Huang, Holm H Uhlig,

<h4>Objectives</h4>Advances in genetic technologies provide opportunities for patient care and ethical challenges. Clinical care of patients with rare Mendelian disorders is often at the forefront of those developments. Whereas in classical polygenic inflammatory bowel disease (IBD), the predictive value of genetic variants is very low, predictive prenatal genetic diagnosis can ... Read more >>

J Pediatr Gastroenterol Nutr (Journal of pediatric gastroenterology and nutrition)
[2021, 72(2):276-281]

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Diagnostic and clinical utility of next-generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project.

Huijun Wang, Feifan Xiao, Xinran Dong, Yulan Lu, Guoqiang Cheng, Laishuan Wang, Wei Lu, Lin Yang, Liping Chen, Wenqing Kang, Long Li, Xinnian Pan, Qiufen Wei, Deyi Zhuang, Dongmei Chen, Zhaoqing Yin, Ling Yang, Qi Ni, Renchao Liu, Gang Li, Ping Zhang, Yanyan Qian, Xu Li, Xiaomin Peng, Yao Wang, Fang Liu, Dahui Wang, Hao Li, Chun Shen, Liling Qian, Yun Cao, Bingbing Wu, Wenhao Zhou,

Multiple congenital anomalies (MCAs) at birth have emerged as an important cause of neonatal morbidity and mortality. This study aimed to investigate the genetic causes and characteristics of clinical outcomes in a large cohort of neonates with MCAs. Clinical exome sequencing/exome sequencing/genome sequencing were undertaken from December 1, 2016 to ... Read more >>

Hum Mutat (Human mutation)
[2021, 42(4):434-444]

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Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant.

Ping Zhang, Wenjing Ying, Bingbing Wu, Renchao Liu, Huijun Wang, Xiaochuan Wang, Yulan Lu,

J Clin Immunol (Journal of clinical immunology)
[2021, 41(4):834-836]

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Recurrent abdominal pain, vomiting, velvet-like changes in the small intestine in a patient with multiple acyl-CoA dehydrogenase deficiency: a case report.

Ziqing Ye, Jieru Shi, Xiaolan Lu, Yingying Meng, Wei Lu, Bingbing Wu, Ying Huang,

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inborn error of metabolism in fatty acid oxidation. We described an unusual case of recurrent vomiting and abdominal pain in a child with MADD, presenting with velvet-like changes in the small intestine. Because of prominent gastrointestinal manifestations and small intestine ulcers, the patient ... Read more >>

Transl Pediatr (Translational pediatrics)
[2021, 10(1):183-187]

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Digital Cell Atlas of Mouse Uterus: From Regenerative Phase to Maturational Phase

Leyi Zhang, Bingbing Wu,

<h4>Background: </h4> Endometria undergo repeated repair and regeneration during the menstrual cycle. Using gene expression to define the menstrual cycle has been seen in a couple of researches, which shares little consistency. The possible reason lies in the fact that the composition of each specimen is different. The objective of ... Read more >>

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Genetic heterogeneity in Chinese children with systemic lupus erythematosus.

Guomin Li, Haimei Liu, Yifan Li, Tao Zhang, Wen Yao, Wanzhen Guan, Yu Shi, Bingbing Wu, Hong Xu, Li Sun,

<h4>Objectives</h4>Systemic lupus erythematosus (SLE) is a prototype autoimmune disease with extreme clinical heterogeneity and significant differences between populations. Here, we performed whole exome sequencing (WES) in 52 children with SLE from China.<h4>Methods</h4>The patients all fulfilled the 2012 SLICC criteria for the classification of SLE. Patients were enrolled if they met ... Read more >>

Clin Exp Rheumatol (Clinical and experimental rheumatology)
[2021, 39(1):214-222]

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Atlas of Musculoskeletal Stem Cells with the Soft and Hard Tissue Differentiation Architecture.

Zi Yin, Junxin Lin, Ruojin Yan, Richun Liu, Mengfei Liu, Bo Zhou, Wenyan Zhou, Chengrui An, Yangwu Chen, Yejun Hu, Chunmei Fan, Kun Zhao, Bingbing Wu, Xiaohui Zou, Jin Zhang, Ahmed H El-Hashash, Xiao Chen, Hongwei Ouyang,

Although being of utmost importance for human health and mobility, stem cell identity and hierarchical organization of musculoskeletal progenitors remain largely unexplored. Here, cells from E10.5, E12.5, and E15.5 murine limbs are analyzed by high throughput single-cell RNA sequencing to illustrate the cellular architecture during limb development. Single-cell transcriptional profiling ... Read more >>

Adv Sci (Weinh) (Advanced science (Weinheim, Baden-Wurttemberg, Germany))
[2020, 7(23):2000938]

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Limb Development: Atlas of Musculoskeletal Stem Cells with the Soft and Hard Tissue Differentiation Architecture (Adv. Sci. 23/2020)

Zi Yin, Junxin Lin, Ruojin Yan, Richun Liu, Mengfei Liu, Bo Zhou, Wenyan Zhou, Chengrui An, Yangwu Chen, Yejun Hu, Chunmei Fan, Kun Zhao, Bingbing Wu, Xiaohui Zou, Jin Zhang, Ahmed H. El‐Hashash, Xiao Chen, Hongwei Ouyang,

In article number 2000938, Zi Yin, Junxin Lin, and co‐workers identify a novel musculoskeletal stem cell population by single‐cell transcriptional profiling with lineage tracing data during limb development. The differentiation potential and trajectory of musculoskeletal stem cells showed they could contribute to soft and hard connective tissues, as well as ... Read more >>

(Advanced Science)
[2020, 7(23):]

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Phenotypes and epigenetic errors in patients with Beckwith-Wiedemann syndrome in China.

Miaoying Zhang, Chengjun Sun, Renchao Liu, Chenbin Dong, Ruoqian Cheng, Zhangqian Zheng, Bingbing Wu, Feihong Luo, Zhou Pei, Wei Lu,

<h4>Background</h4>Beckwith-Wiedemann syndrome (BWS) is primarily caused by epigenetic errors. This study aimed to analyze the relationship between the epigenetic errors and phenotypes of BWS and to evaluate the efficacy of diagnosing BWS using patients' clinical characteristics.<h4>Methods</h4>Patients clinically diagnosed with BWS were subjected to methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) for ... Read more >>

Transl Pediatr (Translational pediatrics)
[2020, 9(5):653-661]

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A Novel, Recurrent, 3.6-kb Deletion in the PYGL Gene Contributes to Glycogen Storage Disease Type VI.

Bo Liu, Bingbing Wu, Yi Lu, Ping Zhang, Feifan Xiao, Gang Li, Huijun Wang, Xinran Dong, Renchao Liu, Yuchuan Li, Xinbao Xie, Wenhao Zhou, Jianshe Wang, Yulan Lu,

The PYGL gene is the only established gene known to cause glycogen storage disease type VI (GSD6), which is a rare autosomal recessive disorder associated with hepatomegaly, elevated levels of hepatic transaminases, and hypoglycemia. Extended bioinformatics analysis was performed on the exome sequencing data of 5 patients who were clinically ... Read more >>

J Mol Diagn (The Journal of molecular diagnostics : JMD)
[2020, 22(12):1373-1382]

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Artificial intelligence based identification of the functional role of hirudin in diabetic erectile dysfunction treatment.

Ruocong Yang, Chao Liu, Qianqian Li, Weilu Wang, Bingbing Wu, Aiping Chen, Bin Wang, Wei Li, Jianxin Chen,

Diabetic erectile dysfunction (DED) hugely affected the patients' sexual life quality. However, there are no satisfactory therapeutic methods and intervention targets for this subtype of erectile dysfunction (ED). Inspired by the clinical practice of traditional Chinese medicine (TCM), we found that hirudin, the main active ingredient in the leech, could ... Read more >>

Pharmacol Res (Pharmacological research)
[2021, 163:105244]

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Correlation between autochthonous microbial communities and key odorants during the fermentation of red pepper (Capsicum annuum L.)

Xinxing Xu, Bingbing Wu, Wenting Zhao, Xueli Pang, Fei Lao, Xiaojun Liao, Jihong Wu,

High-throughput sequencing and gas chromatography-mass spectrometry (GC-MS) were used to investigate changes in bacterial and fungal communities and volatile flavor compounds during a 32-day fermentation process of red pepper (Capsicum annuum L.). Key odorants were identified by olfactometry combined with GC-MS. Sixteen volatile compounds differed significantly after fermentation, including seven ... Read more >>

Food Microbiol (Food microbiology.)
[2020, 91:Not Available]

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