Journal of Human Genetics最新文献

{"title":"Professional bodies: how best to promote and support individuals working in human genetics and genomics","authors":"William G. Newman","doi":"10.1038/s10038-026-01458-x","DOIUrl":"10.1038/s10038-026-01458-x","url":null,"abstract":"","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"71 10","pages":"615-616"},"PeriodicalIF":2.3,"publicationDate":"2026-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.comhttps://www.nature.com/articles/s10038-026-01458-x.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148760454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification.","authors":"Mehmet Burak Mutlu, Abdullah Sezer, Elif Özdemir, Ayşe Kaçar Bayram, Deniz Güven, Şükriye Yılmaz, Nil Sazlı, Deniz Karataş, Emine Öz, Zeynep Bayramlar, Özlem Öz","doi":"10.1038/s10038-026-01503-9","DOIUrl":"https://doi.org/10.1038/s10038-026-01503-9","url":null,"abstract":"<p><p>Biallelic SLC20A2 variants have recently been linked to a severe childhood-onset phenotype distinct from classical adult-onset primary brain calcification, but the molecular and radiologic consequences of homozygous truncating variants remain incompletely defined. We describe a child with severe early-onset neurodevelopmental disease caused by a homozygous SLC20A2 nonsense variant and provide clinical, neuroradiologic, segregation, and transcript-level characterization. The patient presented in early infancy with refractory seizures, severe hypotonia, left hemiplegia, profound developmental impairment, bilateral cataracts, and progressive intracranial calcification. Neuroimaging showed an unusual vascular and leptomeningeal calcification pattern with arterial narrowing, cytotoxic edema, subdural effusion, and rapid cerebral atrophy. Whole-exome sequencing identified a homozygous truncating variant, NM_001257180.2:c.1652 G > A, p.(Trp551Ter), in SLC20A2; both parents were heterozygous and showed radiologic findings consistent with SLC20A2-related primary brain calcification. RNA sequencing and RT-qPCR demonstrated marked reduction of SLC20A2 expression in patient-derived fibroblasts, supporting biallelic loss of function, whereas XPR1 expression was not significantly altered. Patient fibroblasts did not show overt Golgi fragmentation or ciliogenesis defects. These findings support a dose-dependent SLC20A2 disease spectrum and expand the phenotype associated with biallelic loss of function from primary brain calcification toward severe early-onset neurodevelopmental disorder with prominent vascular and leptomeningeal calcification.</p>","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148760769","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive characterization and translational implications of the Galns^R384C mouse model of Mucopolysaccharidosis IVA.","authors":"Dione A Holder, Betul Celik, Sampurna Saikia, Shaukat A Khan, Yasuhiko Ago, Amali Karunathilaka, Shunji Tomatsu","doi":"10.1038/s10038-026-01501-x","DOIUrl":"10.1038/s10038-026-01501-x","url":null,"abstract":"<p><p>Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), leading to progressive accumulation of keratan sulfate (KS) and chondroitin-6-sulfate (C6S) and resulting in systemic skeletal dysplasia. Severe, early-onset disease is frequently associated with destabilizing structural missense variants, including p.R386C. To model a loss-of-function missense variant associated with severe MPS IVA, we generated a Galns^R384C knock-in mouse, the murine ortholog of the most common human variant, p.R386C. Biochemical, histological, and skeletal phenotypes were evaluated across multiple tissues, and bone microarchitecture was assessed using microcomputed tomography (micro-CT). Genomic and biochemical assays were performed to assess allelic integrity, and principal component analysis (PCA) was used to integrate biochemical and structural parameters. Galns^R384C mice exhibited significantly reduced GALNS activity and elevated KS levels across various tissues. Histological examination revealed considerable vacuolization in cartilage and cardiac valves, while micro-CT illustrated altered bone microarchitecture consistent with disrupted endochondral ossification. During allele validation, a secondary missense variant (p.R384Y) was identified and characterized as a comparative model that led to defective GALNS activity, substrate accumulation, and analogous skeletal and cardiovascular pathology. PCA demonstrated clear differentiation between WT and mutant groups, with considerable multivariate overlap observed between Galns^R384C and Galns^R384Y mice. In conclusion, Galns^R384C and Galns^R384Y mice recapitulate key biochemical, skeletal, and histopathological features of MPS IVA and provide well-characterized murine models of severe GALNS loss-of-function resulting from clinically relevant missense variants. Rigorous genomic validation underscores the importance of careful allele-level characterization during genome-editing-based model generation.</p>","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148720899","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Omitting post-alignment processing and merging batch-based imputation: an efficient workflow for NIPT data imputation and its application in maternal folate metabolism genotyping.","authors":"Kaixin Wu, Mei Zheng, Peng He, Decheng Wang, Mi Zhao, Yanchun Feng, Guangqing Liang, Jun Xiong, Biqing Zhu, Guo-Wang Lin","doi":"10.1038/s10038-026-01502-w","DOIUrl":"https://doi.org/10.1038/s10038-026-01502-w","url":null,"abstract":"<p><p>Non-invasive prenatal testing (NIPT) generates vast amounts of low-depth sequencing data, offering a valuable resource for studying maternal genetic traits. However, standard NIPT genotype imputation workflows include time-consuming post-alignment processing steps from GATK, whose benefits for low-depth data remain uncertain. Additionally, merging imputation results from large, batch-processed cohorts presents a challenge, particularly for accurately combining imputation information scores (INFO). This study therefore aimed to develop an efficient imputation pipeline for NIPT data by evaluating the necessity of standard post-alignment steps and validating a batch-merging strategy, using maternal folate metabolism genotyping as a clinical application. The omission of GATK post-alignment steps, including duplicate marking and base quality score recalibration, did not compromise imputation accuracy across multiple simulated low depths but substantially reduced computational time. A sample-size weighted averaging method enabled accurate merging of imputation INFO scores from batch-processed data, yielding results nearly identical to single-cohort imputation for high-quality variants. Applying this optimized pipeline to 517 real-world NIPT samples demonstrated high genotype and allele concordance for the MTHFR rs1801131 and MTRR rs1801394 loci when compared to a sequencing capture method, with both metrics exceeding 96% at GP80. In conclusion, this study validates a simplified, computationally efficient imputation workflow for low-depth NIPT data. It enables accurate assessment of maternal folate metabolism genotypes, offering a cost-effective strategy for large-scale genetic screening of specific maternal traits without additional experimental burden, using existing clinical sequencing data.</p>","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148712683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of gestational-age-dependent cell-free fetal mRNA transcriptional changes in human amniotic fluid.","authors":"Chiaki Eishi, Shoko Miura, Koh Nagata, Ai Nagata, Yuriko Kitajima, Yuri Hasegawa, Koh-Ichiro Yoshiura, Kiyonori Miura","doi":"10.1038/s10038-026-01500-y","DOIUrl":"10.1038/s10038-026-01500-y","url":null,"abstract":"<p><p>Cell-free fetal mRNA (cff-mRNA) in amniotic fluid has emerged as a valuable source of molecular information reflecting fetal development. We aimed to identify cff-mRNA transcripts showing gestational-age-dependent expression patterns in human amniotic fluid and to characterize their expression changes across gestation. Cell-free mRNAs from amniotic fluid samples at 16 and 38 weeks' gestation (n = 1 each) were analyzed by RNA sequencing. Candidate mRNAs showing gestational-age-dependent transcriptional changes were selected based on an expression level of ≥300 transcripts per million (TPM) at either 16 or 38 weeks' gestation and a 38-week/16-week expression ratio of ≥20. As confirmation analysis, RT-qPCR was performed using independent amniotic fluid samples collected at 16 weeks' gestation (n = 20) and 38 weeks' gestation (n = 20). Overall, 1587 mRNAs were identified by RNA sequencing analysis. Among mRNAs showing gestational-age-dependent increases in expression, six candidate genes (SFTPC, NAA10, CALML5, SMIM29, IFITM3P6, and ARF-1) were selected for RT-qPCR validation based on expression changes and tissue representation. RT-qPCR confirmed that all six genes were significantly more highly expressed at 38 weeks than at 16 weeks (all p < 0.0001; Mann-Whitney U test). This study identified candidate cff-mRNAs in human amniotic fluid that exhibit gestational-age-dependent expression patterns. These findings provide preliminary insights into developmental transcriptional changes during fetal development and contribute to our understanding of the amniotic fluid transcriptome. Further validation of the findings obtained here in larger, independent cohorts is required.</p>","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148722112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular genetics of skeletal muscle diseases associated with abnormal excitation-contraction coupling.","authors":"Yukari Endo","doi":"10.1038/s10038-026-01499-2","DOIUrl":"https://doi.org/10.1038/s10038-026-01499-2","url":null,"abstract":"<p><p>Skeletal muscle excitation-contraction coupling (ECC) is a highly specialized process that converts membrane depolarization into contraction through tightly regulated intracellular Ca²⁺ dynamics. Recent advances in molecular genetics have expanded the spectrum of skeletal muscle disorders associated with ECC-related proteins, including congenital myopathies, malignant hyperthermia susceptibility, exertional rhabdomyolysis, exertional heat illness, and related episodic disorders. Although these disorders have traditionally been classified according to clinical manifestations, pathological findings, and causative genes, accumulating evidence suggests that genetically and clinically heterogeneous disorders converge on overlapping abnormalities in intracellular Ca²⁺ handling and ECC function. This review provides an integrative overview of ECC-related skeletal muscle disorders from the perspective of shared abnormalities in intracellular Ca²⁺ handling and the molecular mechanisms that underlie them. We discuss how pathogenic variants affecting the voltage-sensing skeletal muscle L-type calcium channel (CaV1.1), the ryanodine receptor type 1 (RyR1), and other triad-associated proteins disrupt Ca²⁺ release from the sarcoplasmic reticulum (SR), luminal Ca²⁺ regulation, and SR Ca²⁺ reuptake, leading to diverse but partially convergent phenotypes. We also discuss secondary pathological changes associated with chronic intracellular Ca²⁺ dysregulation, including mitochondrial dysfunction, oxidative stress, and skeletal muscle remodeling. Finally, we present a functional perspective centered on intracellular Ca²⁺ handling that complements conventional genetic and clinicopathological classifications of ECC-related skeletal muscle disorders.</p>","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148701446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"VAF–tumor content graph: a simple visual framework for interpreting hereditary cancer variants and supporting genetic counseling in tumor-only sequencing","authors":"Mina Kashima,&nbsp;Hiroshi Tsubamoto,&nbsp;Tomoko Ueda,&nbsp;Chinatsu Kinjo,&nbsp;Chiho Okada,&nbsp;Yoshiko Muroi,&nbsp;Mako Ueda,&nbsp;Taiichiro Otsuki,&nbsp;Kozo Kataoka,&nbsp;Masayuki Nagahashi,&nbsp;Ikuo Matsuda,&nbsp;Hideaki Sawai,&nbsp;Takashi Kijima,&nbsp;Ayako Miyazaki","doi":"10.1038/s10038-026-01494-7","DOIUrl":"10.1038/s10038-026-01494-7","url":null,"abstract":"Comprehensive genomic profiling (CGP) using tumor-only sequencing detects pathogenic or likely pathogenic (P/LP) variants in hereditary cancer susceptibility genes (HCSGs). However, interpreting the biological origin and clinical significance of detected variants is often challenging, complicating communication and decision-making during genetic counseling. We developed a variant allele frequency (VAF)–Tumor Content Graph as a simple visual framework that integrates VAF and tumor content with theoretical reference lines based on the Knudson two-hit hypothesis to support variant interpretation and clinical discussion. We retrospectively reviewed patients who underwent CGP using both tumor-only and tumor–normal paired panels between 2018 and 2025. P/LP variants in HCSGs recommended for disclosure by the institutional expert panel were plotted on the graph. Among 103 patients, 35 were confirmed to have germline P/LP variants. Among BRCA1/2 variants, LOH was observed in 12 of 22 hereditary breast and ovarian cancer (HBOC)-associated tumors and in 2 of 5 non-HBOC tumors. Among other HCSGs, four of eight cases harbored two P/LP variants distributed along theoretical lines corresponding to germline and somatic alterations. Overall, 18 of 35 cases (51%) showed patterns consistent with the two-hit model. In tumors with mismatch-repair deficiency in one patient and POLE mutations in two patients, multiple variants clustered along the somatic line. The VAF–Tumor Content Graph provides a practical visual framework for interpreting HCSG variants by illustrating potential germline or somatic origin and underlying tumorigenic mechanisms, and may facilitate communication and shared decision-making during genetic counseling.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"71 10","pages":"651-657"},"PeriodicalIF":2.3,"publicationDate":"2026-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.comhttps://www.nature.com/articles/s10038-026-01494-7.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148620416","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A nationwide survey on attitudes of obstetricians and gynecologists toward comprehensive prenatal genetic testing in Japan","authors":"Yuka Shibata,&nbsp;Takahiro Yamada,&nbsp;Nahoko Shirato,&nbsp;Akihiko Sekizawa,&nbsp;Aiko Sasaki,&nbsp;Kenichiro Hata,&nbsp;Yuko Masuzawa,&nbsp;Toshiyuki Yamamoto,&nbsp;Hiroshi Yoshihashi,&nbsp;Kanako Koike Fukushima,&nbsp;Hideaki Masuzaki,&nbsp;Kenjiro Kosaki,&nbsp;Shiro Tanaka,&nbsp;Ikuo Konishi,&nbsp;Shigehito Yamada,&nbsp;Masakazu Nishigaki,&nbsp;Hidehiko Miyake","doi":"10.1038/s10038-026-01496-5","DOIUrl":"10.1038/s10038-026-01496-5","url":null,"abstract":"Comprehensive prenatal genetic testing expands the range of conditions that can be diagnosed before birth. However, its appropriate use requires a high genetic literacy level. This study aimed to identify challenges associated with the clinical implementation of comprehensive prenatal genetic testing in Japan through a survey of obstetricians and gynecologists. A total of 663 obstetricians and gynecologists (response rate: 34.6%) affiliated with facilities providing intrapartum care nationwide participated. The mean duration of clinical experience was 26.9 years, and 85% had experience performing prenatal genetic testing. Regarding diagnostic testing using chromosomal microarray analysis or whole-exome sequencing, 5% responded that it was “already implemented,” whereas 47% responded that they were “unsure whether implementation should be considered.” For non-invasive prenatal testing targeting conditions beyond trisomies 21, 18, and 13, 63% were “positive about implementation.” Clinical geneticists or obstetricians and gynecologists certified in perinatal genetics were significantly more likely to cite restricting testing at non-certified institutions as a reason for supporting implementation (p &lt; 0.01). Few obstetricians and gynecologists certified in perinatal genetics cited “to avoid unnecessary invasive diagnostic testing” (p = 0.02) and “to improve the child’s prognosis” (p &lt; 0.01). Therefore, obstetricians and gynecologists certified in perinatal genetics were more likely to cite social issues, such as the presence of non-certified facilities, whereas fewer cited avoiding invasive diagnostic testing or improving child outcomes. As comprehensive prenatal testing is implemented, further investigation into the factors underlying these perceptions, together with ongoing education and awareness initiatives regarding the benefits and values of prenatal genetic testing, including NIPT, will be important.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"71 10","pages":"669-675"},"PeriodicalIF":2.3,"publicationDate":"2026-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148604012","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient","authors":"Hiroyuki Mishima,&nbsp;Yoriko Watanabe,&nbsp;Uladzislau Korzun,&nbsp;Koh-ichiro Yoshiura","doi":"10.1038/s10038-026-01495-6","DOIUrl":"10.1038/s10038-026-01495-6","url":null,"abstract":"","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"71 10","pages":"689-689"},"PeriodicalIF":2.3,"publicationDate":"2026-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.comhttps://www.nature.com/articles/s10038-026-01495-6.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148549507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant","authors":"Ayumi Yoshimura,&nbsp;Yoshiteru Azuma,&nbsp;Keisuke Hamada,&nbsp;Mina Nakama,&nbsp;Yasunari Sakai,&nbsp;Kenta Kajiwara,&nbsp;Hiroshi Yamashita,&nbsp;Shimpei Baba,&nbsp;Eriko Koshimizu,&nbsp;Satoko Miyatake,&nbsp;Kazuhiro Ogata,&nbsp;Yoshinao Wada,&nbsp;Naomichi Matsumoto,&nbsp;Nobuhiko Okamoto","doi":"10.1038/s10038-026-01493-8","DOIUrl":"10.1038/s10038-026-01493-8","url":null,"abstract":"Congenital disorders of glycosylation (CDG) comprise a diverse group of inherited metabolic diseases caused by defects in glycan biosynthesis. SSR4-CDG is an ultra-rare X-linked disorder caused by pathogenic variants in SSR4, which encodes a subunit of the translocon-associated protein (TRAP) complex involved in endoplasmic reticulum N-linked glycosylation. To date, only a limited number of patients have been reported, and all previously reported pathogenic variants have been truncating or splice-altering variants. Here, we report two unrelated patients with SSR4-CDG identified by trio-based whole-exome sequencing. Patient 1 carried a de novo nonsense variant and presented with severe intellectual disability and autism spectrum disorder. Notably, he is currently alive at age 56, providing insight into the long-term clinical course of this condition. Patient 2 harbored a maternally inherited in-frame insertion–deletion variant that was initially classified as a variant of uncertain significance. He showed severe developmental delay, failure to thrive, epilepsy, and hyperkinetic movements. Repeat glycan analysis revealed a CDG type I pattern, transcript analysis demonstrated aberrant transcripts with an expanded deletion, and structural modeling suggested destabilization of the β-barrel domain of SSR4, together supporting reclassification as likely pathogenic. These findings expand the clinical and molecular spectrum of SSR4-CDG, including survival into adulthood and diverse neurological manifestations. Our study also illustrates the challenges in interpreting variants associated with subtle biochemical abnormalities and underscores the importance of integrating biochemical, genetic, transcript, and modeling-based structural assessment for accurate diagnosis of rare CDG subtypes.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"71 10","pages":"659-667"},"PeriodicalIF":2.3,"publicationDate":"2026-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148470943","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}