Molecular Genetics & Genomic Medicine最新文献

{"title":"Knowledge, Attitudes, and Practices of the General Population Regarding Peripheral Blood Chromosomal Testing in the Premarital or Preconception Context.","authors":"Caixia Hu, Lulu Zhai, Hailian Wang","doi":"10.1002/mgg3.70103","DOIUrl":"https://doi.org/10.1002/mgg3.70103","url":null,"abstract":"<p><strong>Objectives: </strong>Some previous studies examined the knowledge, attitudes, and practices (KAP) toward prenatal genetic testing of the fetus but not toward blood chromosomal testing in the preconception and premarital period. This study investigated the KAP of the general population regarding peripheral blood chromosomal testing in the premarital or preconception period.</p><p><strong>Design: </strong>A cross-sectional study.</p><p><strong>Setting: </strong>From October 2023 to December 2023 at the authors' hospital.</p><p><strong>Participants: </strong>Enrolled individuals who participated in free premarital medical examinations and free prepregnancy health examinations.</p><p><strong>Primary and secondary outcome measures: </strong>A self-designed questionnaire (Cronbach's α = 0.917) was used to collect the demographic information and KAP scores. KAP scores across variable categories were analyzed using the Mann-Whitney U test or Kruskal-Wallis H test. Correlations between KAP scores were evaluated by Pearson correlation analysis. Factors associated with KAP were identified by multivariable logistic regression.</p><p><strong>Results: </strong>This study included 630 valid questionnaires. The mean knowledge, attitude, and practice scores were 18.90 ± 4.48 (/30, 63.00%), 40.99 ± 5.32 (/50, 81.98%), and 37.66 ± 4.43 (/45, 83.69%), respectively. The knowledge scores were similar between genders (p = 0.840). Compared with males, females had higher attitude scores (42.01 ± 5.40 vs. 40.01 ± 5.07, p < 0.001) and higher practice scores (38.17 ± 4.44 vs. 37.18 ± 4.37, p = 0.013). There were no significant differences between genders regarding the frequencies of having undergone chromosomal testing and recommending it to the partner. The knowledge scores (OR = 1.060, 95% CI: 1.018-1.103, p = 0.004) and attitude scores (OR = 1.198, 95% CI: 1.154-1.244, p < 0.001) were positively independently associated with the practice scores.</p><p><strong>Conclusions: </strong>The general population in Hangzhou displays poor knowledge but favorable attitudes and proactive practices regarding peripheral blood chromosomal testing in the premarital or preconception period. Cultivating proper knowledge and attitude should improve practice.</p>","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 5","pages":"e70103"},"PeriodicalIF":1.5,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12041940/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144024658","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification and Functional Analysis of Novel Mutations in AXIN2 and LRP6 Linked With Non-Syndromic Tooth Agenesis.","authors":"Wendi Luo, Haitang Yue, Guangtai Song, Jing Cheng, Miao He","doi":"10.1002/mgg3.70101","DOIUrl":"https://doi.org/10.1002/mgg3.70101","url":null,"abstract":"<p><strong>Background: </strong>Tooth agenesis (TA) ranks among the most common dental abnormalities. This study aimed to explore the etiology and pathogenesis in Chinese families with non-syndromic TA.</p><p><strong>Methods: </strong>Chinese families exhibiting non-syndromic TA were recruited. Exome sequencing was conducted to identify mutations in the candidate genes, followed by Sanger sequencing for validation. Functional studies, including bioinformatics analyses, western blots, and dual-luciferase assays, were performed to analyze the impact of the two mutations on the Wnt/β-catenin pathway.</p><p><strong>Results: </strong>We identified a novel heterozygous frameshift insertion in AXIN2 [NM_001363813.1: c.1799dupG (p.Asn601GlnfsTer41)] and a novel de novo heterozygous non-frameshift deletion in LRP6 [NM_002336.3: c.3074_3082del (p.1025_1028del)]. Further functional studies indicated that AXIN2 p.Asn601GlnfsTer41 caused hyperactivation of the Wnt/β-catenin pathway, and LRP6 p.1025_1028del led to pathway suppression.</p><p><strong>Conclusions: </strong>This study expands the spectrum of AXIN2 and LRP6 mutations associated with non-syndromic TA. Our study provided further functional evidence supporting the pathogenicity of suppression and excessive activation of the Wnt signaling pathway in TA.</p>","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 5","pages":"e70101"},"PeriodicalIF":1.5,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035762/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144019387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ultrasound Phenotype, Genetic Analysis, and Pregnancy Outcomes of Fetuses With 1p36 Deletion Syndrome.","authors":"Meiying Cai, Na Lin, Xuemei Chen, Hailong Huang, Nan Guo, Jiansong Lin, Liangpu Xu","doi":"10.1002/mgg3.70104","DOIUrl":"https://doi.org/10.1002/mgg3.70104","url":null,"abstract":"<p><strong>Background: </strong>The intrauterine ultrasound phenotype, genotype, pregnancy outcome, and neonatal prognosis of fetuses with 1p36 deletion syndrome were retrospectively analyzed, as previous reports are limited.</p><p><strong>Methods: </strong>Pregnant women (25,000) who underwent interventional prenatal diagnosis between December 2016 and March 2024 were selected. Fetal villus tissue, amniotic fluid, or umbilical cord blood were extracted for single nucleotide polymorphism array (SNP-array) detection under ultrasound guidance.</p><p><strong>Results: </strong>Thirteen fetuses had 1p36 deletions involving fragments that were 0.46-22.5 Mb. Six and seven fetuses had large and small copy number variation (CNV) fragment deletions in the 1p36 region, respectively. Two fetuses had normal ultrasound phenotypes, three underwent early spontaneous abortion, one had isolated ventricular septal defect, one had isolated mild ventriculomegaly, two had mild ventriculomegaly associated with increased renal echogenicity, one had mild ventriculomegaly associated with ventricular septal defect, one had severe ventriculomegaly associated with ventricular septal defect and fetal growth restriction, one had tricuspid valve dysplasia, and one had nasal bone dysplasia. Three 1p36 deletions were de novo, and one was paternally inherited. There were three cases of early spontaneous abortion, seven terminations, and three routine postnatal follow-ups.</p><p><strong>Conclusions: </strong>High-resolution SNP-arrays are suitable for the prenatal diagnosis of 1p36 deletion syndrome.</p>","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 5","pages":"e70104"},"PeriodicalIF":1.5,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12032399/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144004637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene.","authors":"Badreddine Elmakhzen, Paul Rollier, Clémence Saillard, Benoit Godey, Cédric Le Marechal, Paul Gueguen, Isabelle Fajardy, Sylvie Odent, Laurent Pasquier","doi":"10.1002/mgg3.2474","DOIUrl":"https://doi.org/10.1002/mgg3.2474","url":null,"abstract":"<p><p>GJB2 and GJB6 variants, encoding Cx26 and Cx30 respectively, are the most frequently involved genes commonly contributing to hereditary hearing loss either isolated or in combination with skin abnormalities. GJB6 variations are classically associated with two distinct conditions: non-syndromic hearing loss and hidrotic ectodermal dysplasia, type Clouston, the latter typically not involving deafness.</p><p><strong>Method: </strong>Whole genome sequencing (WGS) was used to find genetic variants after clinical features of a 13-year-old female patient were recorded.</p><p><strong>Results: </strong>In this report, we describe the association of congenital hearing loss and ectodermal anomalies (palmoplantar keratoderma, knuckle pads, and nail dystrophy) in a female with the ENST00000647029.1 (GJB6): c.175G>A (p.(Gly59Arg)) GJB6 variant. As a result, we report on the third case of individuals showing this same missense variant and syndromic hearing loss.</p><p><strong>Conclusion: </strong>This study underscores the overlapping phenotypes observed in patients with the p.Gly59Arg variant in the GJB6 gene. The findings suggest a continuum of phenotypic presentations for this variant, with the key clinical features being the combination of congenital hearing loss and hyperkeratosis.</p>","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 5","pages":"e2474"},"PeriodicalIF":1.5,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078196/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144079217","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Insights Into Craniosynostosis: Identification of Novel IL11RA Variants in Chinese Pediatric Patients.","authors":"Ziwei Liu, Ding Zhou, Chunli Wang, Bixia Zheng, Qing Yan, Wei Zhou, Gang Wang","doi":"10.1002/mgg3.70106","DOIUrl":"10.1002/mgg3.70106","url":null,"abstract":"<p><strong>Background: </strong>Craniosynostosis (CS), a heterogeneous craniofacial disorder caused by premature fusion of cranial sutures, is sub-classified anatomically by suture involvement (sagittal, metopic, coronal, lambdoid) and phenotypically into isolated/non-syndromic forms or syndromic (CS with extracranial anomalies). Pathogenic variants in multiple genetic loci have been implicated in CS, with particular significance attributed to allelic variants in IL11RA (interleukin-11 receptor alpha subunit; OMIM#600939). Clinical observations of individuals with IL11RA mutations indicate syndromic CS, characterized by dental anomalies and Crouzon-like facial features.</p><p><strong>Methods: </strong>Genetic analyses were carried out utilizing whole-exome sequencing, with subsequent validation through direct Sanger sequencing. IL11RA biallelic pathogenic variants were detected and further analyzed by multiple in silico prediction tools, including 3D protein modeling.</p><p><strong>Results: </strong>Our cohort comprises six pediatric patients presenting with CS linked to biallelic pathogenic mutations in IL11RA, including two previously unreported variants (p.Pro218Argfs*140, p.Trp132Ter). Three-dimensional protein structure modeling and molecular docking simulations demonstrated that four missense variants (p.Pro116Leu, p.Glu126Gly, p.Gly231Val, p.Leu236Pro) disrupt hydrogen bond networks critical for maintaining the IL-11 receptor alpha subunit's tertiary structure, significantly reducing ligand-binding affinity to both interleukin-11 (IL-11) and gp130.</p><p><strong>Conclusion: </strong>This study describes the clinical phenotype of six children with craniosynostosis and reveals novel variants in the IL11RA gene, thereby broadening the genotypic spectrum associated with this gene. Given the scarcity of patients reported in the literature, a detailed examination of the specific clinical and molecular characteristics will benefit our understanding of craniosynostosis caused by IL11RA variants.</p>","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 5","pages":"e70106"},"PeriodicalIF":1.5,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12067187/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144044578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Functional Correlation of Two Novel Nonsense POU4F3 Mutations Causing Late-Onset Progressive Nonsyndromic Hearing Loss in DFNA15 Families.","authors":"Tianyang Zhang, Wei Wang, Luping Zhang, Jingchun He","doi":"10.1002/mgg3.70100","DOIUrl":"10.1002/mgg3.70100","url":null,"abstract":"<p><strong>Background: </strong>POU4F3 mutations cause DFNA15, an autosomal dominant nonsyndromic hearing loss. POU4F3 encodes a transcription factor crucial for inner ear hair cell development and maintenance.</p><p><strong>Objective: </strong>To identify and functionally characterize novel POU4F3 mutations in two Chinese families with late-onset progressive hearing loss.</p><p><strong>Methods: </strong>Massively parallel DNA sequencing (MPS) was performed on affected individuals from two unrelated Chinese families. Sanger sequencing validated mutations and confirmed co-segregation. Functional analyses included protein expression analysis by Western blots and subcellular localization studies by immunofluorescence.</p><p><strong>Results: </strong>We identified two novel nonsense mutations in POU4F3: c.863C > A (p.Ser288Ter) and c.172G > T (p.Glu58Ter), both co-segregating with the hearing loss phenotype. Functional studies showed p.Ser288Ter produced a stable but mislocalized protein with impaired nuclear transport, while p.Glu58Ter resulted in a severely truncated, rapidly degraded protein.</p><p><strong>Conclusion: </strong>This study expands the DFNA15 mutation spectrum and provides new insights into POU4F3-related hearing loss pathogenesis. Our findings demonstrate that different molecular mechanisms can lead to similar DFNA15 phenotypes, supporting POU4F3 haploinsufficiency as the primary pathogenic mechanism.</p>","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 5","pages":"e70100"},"PeriodicalIF":1.5,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12076007/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144002129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to \"A New Case of Sodium-Dependent Multivitamin Transporter Defect Occurring as a Life-Threatening Condition Responsive to Early Vitamin Supplementation and Literature Review\".","authors":"","doi":"10.1002/mgg3.70105","DOIUrl":"10.1002/mgg3.70105","url":null,"abstract":"","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 5","pages":"e70105"},"PeriodicalIF":1.5,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12081831/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144079225","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chinese Family With Knobloch Syndrome Associated With a Novel PAK2 Variant Leading to Reduced Phosphorylation Levels.","authors":"Liwei Shen, Xiaofei Ye, Xiaocui Wang, Conglei Song, Bin Yang","doi":"10.1002/mgg3.70099","DOIUrl":"https://doi.org/10.1002/mgg3.70099","url":null,"abstract":"<p><strong>Background: </strong>Biallelic variants of COL18A1 cause Knobloch syndrome (KNO), a rare genetic disorder, characterized by oculopathy and structural defects. Recently, several studies have suggested that novel de novo missense variants in PAK2 may be associated with KNO; however, there are few case reports. This study aimed to investigate a patient with KNO who initially presented with seizures and expand the PAK2 genotype and phenotype spectrum.</p><p><strong>Methods: </strong>This study included a Chinese family with a proband who primarily presented with epilepsy and developmental delay. Whole-exome sequencing and Sanger sequencing were performed to analyze potential variants. Structural modeling was performed to assess the impact of the variant on the protein structure. In vitro, a mutant plasmid was constructed and transfected into 293T cells to conduct phosphorylation assays, and phosphorylation levels at Ser141 of PAK2 were assessed. The PAK kinase inhibitor FRAX597 was used to confirm the specificity of the western blot results.</p><p><strong>Results: </strong>A de novo variant of PAK2 gene, NM_002577.4: c.1049G>A (p.Arg350Lys) was found in the patient but not in his parents or sister. This variant was found to be located in the kinase domain and may alter the hydrogen-bond network, potentially affecting kinase activity. In vitro functional experiments demonstrated that the variant may lead to reduced protein levels. Moreover, Western blot analysis showed a significant decrease in the phosphorylation level at Ser141 compared to the wild-type plasmid, indicating that the variant may lead to decreased PAK2 phosphorylation levels.</p><p><strong>Conclusion: </strong>The clinical manifestations in this patient may be associated with a novel PAK2 variant, and the atypical presentation of KNO suggests that PAK2-related KNO may have a broader phenotypic spectrum.</p>","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 4","pages":"e70099"},"PeriodicalIF":1.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12006727/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143981603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Retrospective Study of Infant and Maternal Risk Factors in LUMBAR Syndrome.","authors":"Denise W Metry, Dawn H Siegel, Kim M Keppler-Noreuil","doi":"10.1002/mgg3.70093","DOIUrl":"10.1002/mgg3.70093","url":null,"abstract":"<p><strong>Background: </strong>LUMBAR syndrome is the association of segmental infantile hemangiomas that affect the Lower part of the body with Urogenital anomalies, hemangioma Ulceration, spinal cord Malformations, Bony deformities, Anorectal malformations, Arterial anomalies and/or Renal anomalies. The etiology is not known but is suspected to be multifactorial, involving genetic and environmental factors.</p><p><strong>Methods: </strong>We retrospectively reviewed a large database of 109 published reports of LUMBAR syndrome to study potential associated clinical risk factors, the first such effort.</p><p><strong>Results: </strong>LUMBAR is significantly more common in full-term, normal birth weight, singleton girls. We found no statistically significant differences in disease severity between affected girls and boys. There were no reports in twins or other multiple births, no reports of familial recurrence, and no repeated maternal illnesses, exposures, or other prenatal risk factors.</p><p><strong>Conclusions: </strong>Prospective studies in LUMBAR syndrome are needed to further evaluate maternal risk factors for prenatal hypoxia, gene-environment interactions, and genetic susceptibility variants.</p>","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 4","pages":"e70093"},"PeriodicalIF":1.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11973928/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795946","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"SLC26A4 C.317C > A Variant: Functional Analysis and Patient-Derived Induced Pluripotent Stem Line Development.","authors":"Yijing Li, Tao Sun, Sang Hu, Hongen Xu, Teng Zhang, Jinlong Liu, Shuangshuang Lu, Bing Wang, Guo Dan","doi":"10.1002/mgg3.70098","DOIUrl":"https://doi.org/10.1002/mgg3.70098","url":null,"abstract":"<p><strong>Background: </strong>SLC26A4 is the second most common cause of hereditary hearing loss worldwide. This gene predominantly harbors pathogenic variants, including splice, nonsense, and missense. Although missense variants are relatively common, their specific effects on protein function remain unclear. Consequently, there is an urgent need to establish an in vitro system to investigate how these variants impact SLC26A4 protein function.</p><p><strong>Methods: </strong>Genetic testing was conducted to determine the specific types of underlying genetic variants in patients. Following this, we employed plasmid transfection to evaluate the effects of the variants on both protein expression levels and the protein's subcellular localization. Thereafter, we transformed peripheral blood mononuclear cells (PBMCs) from the proband into induced pluripotent stem cells (iPSCs) through Sendai virus-mediated transduction.</p><p><strong>Results: </strong>Genetic testing revealed that the proband carried compound heterozygous variants: SLC26A4 c.919-2A > G and c.317C > A. The c.317C > A variant markedly decreased the expression levels of SLC26A4 mRNA and its encoded protein. Additionally, it led to the protein's accumulation in the cytoplasm as aggregates. We successfully reprogrammed peripheral blood mononuclear cells from the proband into induced pluripotent stem cells (iPSCs) and verified that these iPSCs retained their pluripotency, differentiation potential, and genetic integrity.</p><p><strong>Conclusion: </strong>These results provide important insights into the mechanisms by which SLC26A4 gene variants lead to hearing loss.</p>","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 4","pages":"e70098"},"PeriodicalIF":1.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12012755/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144013845","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}