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9901
A search for Ξ cc + + $$ {\Xi}_{\mathrm{cc}}^{++} $$ → D+pK − π + decays
Published 2019-10-01Get full text
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9902
Nitrogen deposition in low-phosphorus tropical forests benefits soil C sequestration but not stabilization
Published 2023-02-01Get full text
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9903
Increased serum homocysteine in first episode and drug-naïve individuals with schizophrenia: sex differences and correlations with clinical symptoms
Published 2022-12-01“…This study evaluated the relationships between Hcy levels and clinical features in first-episode, Chinese Han, drug-naïve (FEDN) patients with schizophrenia. …”
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9904
Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene
Published 2023-06-01“…Additional clinical features include increased serum creatine kinase, abnormal electromyography with or without white matter abnormalities on brain imaging.MethodsClinical data were collected from a Chinese Han family. Whole-exome sequencing, Sanger sequencing, RT-PCR and TA clone sequencing were performed on the family members.ResultsCompound heterozygous mutations of LAMA2: c.1693C > T (p. …”
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9905
Mitochondrial Diabetes Is Associated with the <i>ND4</i> G11696A Mutation
Published 2023-05-01“…In the current study, two Han Chinese families with maternally inherited T2DM were evaluated using clinical, genetic, molecular, and biochemical analyses. …”
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9906
HLA-DQA1 and DQB1 Alleles are Associated with Acitretin Response in Patients with Psoriasis
Published 2022-09-01“…Methods: A total of 100 Han Chinese patients with psoriasis completed the study. 24 patients including 16 responders and 8 non-responders underwent deep sequencing by MHC targeted region capture and 76 samples were genotyped by Sanger sequencing (SBT) based HLA typing for validation. …”
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9907
CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease
Published 2022-12-01“…The c.1935C>A (p.Asp645Glu) variant, the most frequent GAA pathogenic mutation in people of Southern Han Chinese ancestry, causes infantile-onset Pompe disease (IOPD), presenting neonatally with severe hypertrophic cardiomyopathy, profound muscle hypotonia, respiratory failure, and infantile mortality. …”
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9908
Genome-wide genotype-serum proteome mapping provides insights into the cross-ancestry differences in cardiometabolic disease susceptibility
Published 2023-02-01“…Here, the authors conduct genome-wide association analyses of the serum proteome in 2,958 Han Chinese individuals, uncovering proteins which may contribute to ancestry differences in cardiometabolic disease susceptibility.…”
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9909
Association of ACE gene A2350G and I/D polymorphisms with essential hypertension in the northernmost province of China
Published 2018-01-01“…A total of 2040 subjeces were recruited from Chinese Han in this study, out of which 1010 were cases and 1030 were normotensive individuals. …”
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9910
The association of functional polymorphisms in genes expressed in endothelial cells and smooth muscle cells with the myocardial infarction
Published 2019-01-01“…The study included 401 Han Chinese MI patients and 409 controls. Three tag single-nucleotide polymorphisms (SNPs)—PECAM1 rs1867624, HIF1A rs2057482, and KIAA1462 rs3739998—were selected. …”
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9911
Acute Hepatitis E Induced the First Episode of Immune-Mediated Thrombotic Thrombocytopenic Purpura: The First Case Report
Published 2023-08-01“…Fei Lv,1,2 Yue Zhao,2 Xing-Di Yang,2 Han-Zhu Chen,2 Wen-Ya Ren,2 Ling-Xia Chen,2 Qiao-Qiao Yi,2 Wei Zheng,2 Hong-Ying Pan2 1The Second Clinical Medical College, Zhejiang Chinese Medical University, Hangzhou, Zhejiang, 310053, People’s Republic of China; 2Department of Infectious Diseases, Zhejiang Provincial People’s Hospital, Affiliated People’s Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, 310014, People’s Republic of ChinaCorrespondence: Hong-Ying Pan, Tel/Fax +86-571-8589-3603, Email hypanzjsrmyy@126.comPurpose: Hepatitis E virus infection mainly presents with liver-related symptoms, and multiple studies have shown that hepatitis E virus infection can also induce extrahepatic-related symptoms. …”
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9912
Identification of a Novel Heterozygous Mutation in the EIF2B4 Gene Associated With Vanishing White Matter Disease
Published 2022-07-01“…In this study, a targeted gene capture sequencing panel comprising 160 known pathogenic genes associated with leukoencephalopathies was performed in a large Han Chinese family affected by adult-onset VWM, and a novel heterozygous missense mutation (c.1337G > A [p. …”
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9913
Islet Autoantibodies in the Patients with Sjogren’s Syndrome and Thyroid Disease and Risk of Progression to Latent Autoimmune Diabetes in Adults: A Case Series
Published 2021-03-01“…Herein, two unique cases of middle-aged Chinese Han women free from diabetes for three years are described despite their blood tests persistently testing positive for GAD65-Ab or IAA. …”
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9914
Association of BDNF and MMP-9 single-nucleotide polymorphisms with the clinical phenotype of schizophrenia
Published 2022-10-01“…To shed new light on the relationship between the single-nucleotide polymorphisms (SNPs) of BDNF and MMP-9 and the clinical variability of schizophrenia phenotype, this study aims to evaluate the relationship, and provide more definitive evidence for the relationship with various clinical features of schizophrenia.MethodsA case-control association study was performed, and one hundred and five subjects of Chinese Han population were enrolled, including 55 schizophrenia patients (SP) and 50 healthy controls (HC). …”
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9915
Effect of Virtual Reality on Cognitive Impairment and Clinical Symptoms among Patients with Schizophrenia in the Remission Stage: A Randomized Controlled Trial
Published 2022-11-01“…<b>Aims</b>: This intervention study evaluates the effect of a virtual reality cognition training system (VRCTS) on improving cognitive function and clinical symptoms in Han Chinese patients with schizophrenia in the remission stage. …”
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9916
Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine
Published 2023-11-01“…Case presentation We identified a homozygous novel nonsense mutation in exon 1 of SLC10A7 (NM_001300842.2: c.100G > T / p.Gly34*) segregating with the typical disease phenotype in a Han Chinese family. We reviewed the 12-year surgical treatment history with seven interventions on spine. …”
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9917
Investigation of the STOX1 polymorphism on lumbar disc herniation
Published 2020-01-01“…Conclusion Our results provide evidence for polymorphisms of rs7903209 and rs4472827 in STOX1 associated with LDH risk in Chinese Han population.…”
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9918
The genetic polymorphisms of ZC3HC1 and SMARCA4 are associated with hypertension risk
Published 2019-11-01“…Abstract Aim In this study, we aimed to evaluate the association between genetic variants of ZC3HC1 and SMARCA4 and hypertension risk in the Chinese Han population. Methods The Agena MassAssary platform was used to determine the genotypes of eight SNPs in ZC3HC1 and SMARCA4 from 350 hypertension patients and 483 healthy controls. …”
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9919
FGFR1 variants contributed to families with tooth agenesis
Published 2023-10-01“…Results Using whole-exome sequencing of a Han Chinese family with non-syndromic tooth agenesis, a rare mutation in FGFR1 (NM_001174063.2: c.103G > A, p.Gly35Arg) was identified as causative and confirmed by Sanger sequencing. …”
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9920
Bone Stick Image Classification Study Based on C3CA Attention Mechanism Enhanced Deep Cascade Network
Published 2023-01-01Get full text
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