Journal of Human Genetics最新文献

{"title":"Hemizygous SMARCA1 variants cause X-linked intellectual disability.","authors":"Naoto Nishimura, Takeshi Mizuguchi, Keisuke Hamada, Kotaro Yuge, Masamune Sakamoto, Naomi Tsuchida, Yuri Uchiyama, Atsushi Fujita, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Yoriko Watanabe, Hitoshi Osaka, Koh-Ichiro Yoshiura, Kazuhiro Ogata, Naomichi Matsumoto","doi":"10.1038/s10038-025-01346-w","DOIUrl":"https://doi.org/10.1038/s10038-025-01346-w","url":null,"abstract":"<p><p>Pathogenic SNF2 related chromatin remodeling ATPase 1 (SMARCA1) variants have been reported in patients with X-linked intellectual disability (XLID) characterized by macrocephaly and variable neurological symptoms. Here, we report two unrelated male patients with XLID due to novel SMARCA1 variants detected by exome sequencing. Patient 1 showed macrocephaly, behavioral difficulty, and learning disability with a hemizygous SMARCA1 variant (NM_003069.5:c.1795 C > T p.[Gln599*]) leading to nonsense-mediated decay. Patient 2 had ataxia and speech delay with a hemizygous missense variant (NM_003069.5:c.1343 G > T p.[Arg448Leu]). Structural modeling suggested that the missense variant, p.(Arg448Leu) might destabilize interactions between SMARCA1 and nucleosomal DNA, thereby contributing to the abberant effect of mutant SMARCA1 protein. Both variants were inherited from their unaffected healthy mothers. This study suggests that hemizygous variants impairing SMARCA1 function can cause XLID with other variable features, such as macrocephaly and ataxia, in men.</p>","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143985295","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":"Genetic effects on gestational diabetes mellitus and their interactions with environmental factors among Japanese women.","authors":"Tomoki Kawahara, Nobutoshi Nawa, Keiko Murakami, Toshihiro Tanaka, Hisashi Ohseto, Ippei Takahashi, Akira Narita, Taku Obara, Mami Ishikuro, Masatsugu Orui, Aoi Noda, Genki Shinoda, Yuki Nagata, Satoshi Nagaie, Soichi Ogishima, Junichi Sugawara, Shigeo Kure, Kengo Kinoshita, Atsushi Hozawa, Nobuo Fuse, Gen Tamiya, Wendy L Bennett, Margaret A Taub, Pamela J Surkan, Shinichi Kuriyama, Takeo Fujiwara","doi":"10.1038/s10038-025-01330-4","DOIUrl":"10.1038/s10038-025-01330-4","url":null,"abstract":"<p><p>Gestational diabetes mellitus (GDM) is common in Japanese women, posing serious risks to mothers and offspring. This study investigated the influence of maternal genotypes on the risk of GDM and examined how these genotypes modify the effects of psychological and dietary factors during pregnancy. We analyzed data from 20,399 women in the Tohoku Medical Megabank Project Birth and Three-Generation Cohort. Utilizing two customized SNP arrays for the Japanese population (Affymetrix Axiom Japonica Array v2 and NEO), we performed a meta-analysis to combine the datasets. Gene-environment interactions were assessed by modeling interaction terms between genome-wide significant single nucleotide polymorphisms (SNPs) and psychological and dietary factors. Our analysis identified two SNP variants, rs7643571 (p = 9.14 × 10^-9) and rs140353742 (p = 1.24 × 10^-8), located in an intron of the MDFIC2 gene, as being associated with an increased risk of GDM. Additionally, although there were suggestive patterns for interactions between these SNPs and both dietary factors (e.g., carbohydrate and fruit intake) and psychological distress, none of the interaction terms remained significant after Bonferroni correction (p < 0.05/8). While nominal significance was observed in some models (e.g., psychological distress, p = 0.04), the data did not provide robust evidence of effect modification on GDM risk once adjusted for multiple comparisons. These findings reveal novel genetic associations with GDM in Japanese women and highlight the importance of gene-environment interactions in its etiology. Given that previous genome-wide association studies (GWAS) on GDM have primarily focused on Western populations, our study provides new insights by examining an Asian population using a population-specific array.</p>","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":"265-273"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12032887/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143677014","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":"Deciphering the phenotypic spectrum associated with MIA3-related odontochondrodysplasia.","authors":"Mohamed S Abdel-Hamid, Rasha M Elhossini, Sherif F Abdel-Ghafar, Mennat Mehrez, Mona S Aglan, Nehal F Hassib","doi":"10.1038/s10038-025-01328-y","DOIUrl":"10.1038/s10038-025-01328-y","url":null,"abstract":"<p><p>Odontochondrodysplasia (ODCD) is a rare skeletal dysplasia characterized by short stature, skeletal deformities, and dentinogenesis imperfecta (DI). Although the majority of cases were associated with biallelic variants in TRIP11, one study described a homozygous truncating variant in MIA3, encoding TANGO1, in four sibs with ODCD in association with insulin-dependent diabetes, hearing loss, obesity, and intellectual disability. Subsequently, a homozygous truncating variant in the luminal domain of TANGO1 was identified in a fetus with a lethal skeletal dysplasia and fetal hydrops. Herein, we describe two unrelated patients with a distinct phenotype including severe short limbs, short stature, metaphyseal dysplasia, dysmorphic facies, lax joints, and DI. Other variable features were scoliosis, squint, and cardiac problems. Exome sequencing revealed two homozygous MIA3 variants in the luminal domain of TANGO1, c.354+2T>G and p.Cys38Phe. The c.354+2T>G variant was confirmed by investigating the patient's mRNA to result in exon 3 skipping and an inframe deletion of 29 amino acids. Our patients lacked the extra-skeletal manifestations noted in the four sibs with MIA3 variant. However, they had more severe skeletal deformities closely resembling those observed in patients with TRIP11 variants. Our study suggests the presence of a phenotypic spectrum associated with MIA3 variants including ODCD with milder skeletal deformities, a classic ODCD with severe skeletal deformities, and a lethal skeletal dysplasia at the severe end of the spectrum. Although the striking phenotypic variability appears to be related to the type and or the location of the MIA3 variants, the influence of other factors cannot be ruled out.</p>","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":"257-263"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11964919/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143677012","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":"Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy.","authors":"Yosuke Miyamoto, Takenori Tozawa, Eisuke Ichise, Tatsuji Hasegawa, Takahiro Fujimoto, Kyoko Itoh, Masafumi Morimoto, Tomoko Iehara, Tomohiro Chiyonobu","doi":"10.1038/s10038-025-01329-x","DOIUrl":"10.1038/s10038-025-01329-x","url":null,"abstract":"<p><p>AKT3, a key component of the PI3K-AKT-MTOR pathway, is highly expressed in the brain, and its activating variants cause megalencephaly and cortical malformations. In this study, we functionally verified a novel missense AKT3 variant (p.Q78R) identified in a patient with extreme megalencephaly and intractable epilepsy. We transiently transfected HEK-293T cells with the AKT^WT or AKT3^Q78R and observed a significant increase of phospho-S6, a marker of mTOR complex 1 (mTORC1) activity, in AKT3^Q78R transfected cells. Furthermore, considering its application in epilepsy treatment research, we identified a small interfering RNA (siRNA) capable of reducing the mRNA levels of AKT^Q78R without affecting the expression levels of AKT3^WT. Finally, the siRNA we identified specifically suppressed the AKT3^Q78R-mediated mTORC1 activity, suggesting that this allele-specific siRNA approach holds promise for ameliorating the pathological condition.</p>","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":"281-285"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143586044","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 gene signature of circulating stromal/stem cells.","authors":"Weiping Lin, Liangliang Xu, Gang Li, Micky Daniel Tortorella","doi":"10.1038/s10038-025-01322-4","DOIUrl":"10.1038/s10038-025-01322-4","url":null,"abstract":"<p><p>The human skeleton is renewed and regenerated throughout life, by a cellular process known as bone remodeling. Stem cells are clono-genic cells that are capable of differentiation into multiple mature cell types (multipotency), and simultaneously replenishing stem cell pool (self-renewal), which allows them to sustain tissue development and maintenance. Circulating mesenchymal stromal/stem cells (MSCs), are mobile adult stem cells with specific gene expression profiling, as well as enhanced mitochondrial remodeling as a promising source for personalized cell and gene therapy. A global LGR5-associated genetic interaction network highlights the functional organization and molecular phenotype of circulating MSCs.</p>","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":"275-280"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605004","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":"A step forward in genetic counselling: defining practice and ethics through the Genetic Counselling Practice Consortium in Hong Kong.","authors":"Desiree M S Tse, Brian H Y Chung, Annie T W Chu","doi":"10.1038/s10038-025-01321-5","DOIUrl":"10.1038/s10038-025-01321-5","url":null,"abstract":"<p><p>Genetic counselling plays a crucial role in the genomic era, assisting in disease risk determination, diagnosis and management. The lack of an accredited local training program for genetic counselling in Hong Kong has led to pragmatic on-the-job training and diverse practice models. In view of the needs for enhanced awareness in genomic counselling practices among healthcare professionals, a collaborative effort - the Hong Kong Genetic Counselling Practice Consortium - was initiated to develop genomic medicine in Hong Kong. A thematic analysis of genetic counselling practice across 15 regions was conducted, revealing a broad consistency in the scope of duties, with minor differences due to social and cultural influences. Genetic counsellors generally follow a similar protocol, but some approaches vary. Ethical considerations for genetic counsellors are discussed, highlighting their responsibility towards themselves, colleagues, clients, and society. The scope of practice and code of ethics were developed to highlight the key areas of practice duties; guide the conduct of genetic counsellors; and support local counsellors in their professional training, ultimately contributing to the advancement of genomic science and health benefit of the people of Hong Kong.</p>","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":"233-241"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11964909/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143634126","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":"Translocation-specific polymerase chain reaction in preimplantation genetic testing for recurrent translocation carrier.","authors":"Gen Furukawa, Rie Kawamura, Hidehito Inagaki, Yoshihiko Sakakibara, Yoshimasa Asada, Tetsuaki Hara, Takeshi Iwasa, Akira Kuwahara, Minoru Irahara, Hiroki Kurahashi","doi":"10.1038/s10038-025-01327-z","DOIUrl":"10.1038/s10038-025-01327-z","url":null,"abstract":"<p><p>It is occasionally necessary to distinguish balanced reciprocal translocations from normal diploidy since balanced carriers can have reproductive problems or manifest other disease phenotypes. It is challenging to do this however using next generation sequencing (NGS) or microarray-based preimplantation genetic testing (PGT). In this study, discarded embryos were harvested from balanced reciprocal translocation carriers intending PGT that were determined to be unsuitable for transfer due to unbalanced translocations or translocation-unrelated aneuploidy. Two trophoectoderm biopsy samples were obtained from each single embryo. Whole genome amplification (WGA) was performed either by looping-based amplification (LBA) or multiple displacement amplification (MDA). NGS-based copy number variation (CNV) analysis as well as translocation-specific PCR was performed for each. We used embryo samples from t(8;22)(q24.13;q11.2) and t(11;22)(q23;q11.2) carriers since they are recurrent constitutional translocations that have nearly identical breakpoints even among independent unrelated families. CNV analysis was generally consistent between the two WGA methods. Translocation-specific PCR allowed us to detect each derivative chromosome in the MDA WGA samples but not with the LBA method, presumably due to coverage bias or the shorter sized WGA products. We successfully distinguished balanced reciprocal translocations from normal diploidy in normal samples with CNV analysis. A combination of CNV analysis and translocation-specific PCR using MDA-amplified WGA product can distinguish between balanced reciprocal translocation and normal diploidy in preimplantation genetic testing for structural rearrangements (PGT-SR).</p>","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":"249-255"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143515663","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":"Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.","authors":"Dohyung Kim, Ji-Hee Yoon, Hyunwoo Bae, Soojin Hwang, Go Hun Seo, June-Young Koh, Young Seok Ju, Hyo-Sang Do, Soyoung Kim, In Hee Choi, Gu-Hwan Kim, Ja Hye Kim, Jin-Ho Choi, Beom Hee Lee","doi":"10.1038/s10038-025-01325-1","DOIUrl":"10.1038/s10038-025-01325-1","url":null,"abstract":"<p><p>The Verloes or Hale diagnostic criteria have been applied for diagnosing CHARGE syndrome in suspected patients. This study was conducted to evaluate the diagnostic rate of CHD7 according to these diagnostic criteria in suspected patients and also to investigate other genetic defects in CHD7-negative patients. The clinical findings and the results of genetic testing of CHD7, chromosome microarray, exome sequencing, or genome sequencing of 59 subjects were reviewed. CHD7 pathogenic variants were identified in 78% of 46 subjects who met either the Verloes or Hale diagnostic criteria and in 87% of 38 subjects who met both criteria, whereas no CHD7 variant was detected in 13 subjects who met neither criterion. Among 23 patients without the CHD7 variant, six genetic diseases were identified in 7 patients, including Wolf-Hirschhorn syndrome, 1q21 deletion syndrome, 19q13 microdeletion, and pathogenic variants in PLCB4, TRRAP, and OTX2. Based on these comprehensive analyses, the overall diagnostic rate was 73% for seven different genetic diseases. This study emphasizes the importance of comprehensive clinical and genetic evaluation in patients with clinically suspected CHARGE syndrome, recognizing the overlapping phenotypes in other rare genetic disorders.</p>","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":"243-248"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143501879","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":"Variant sub-tiering, disease-gene associations and strictness of clinical criteria improves the interpretation of variants of uncertain significance in hereditary cardiomyopathies and rhythm disorders.","authors":"Marco Castori, Sandra Mastroianno, Andrea Fontana, Silvia Morlino, Grazia Nardella, Ester Di Muro, Pietro Palumbo, Maria Pia Leone, Riccardo Pracella, Orazio Palumbo, Antonio Petracca, Domenico Rosario Potenza, Massimo Carella, Giovanni De Luca, Carlo Coli, Raimondo Salvatore Massaro, Rosa De Santis, Lorenzo Vaccaro, Marcella Cesana, Davide Cacchiarelli, Massimiliano Copetti, Carmela Fusco, Giuseppe Di Stolfo","doi":"10.1038/s10038-025-01344-y","DOIUrl":"https://doi.org/10.1038/s10038-025-01344-y","url":null,"abstract":"<p><p>Besides the ClinGen's efforts to standardize the ACMG/AMP criteria and European initiatives aimed at monitoring quality standards, molecular diagnostics of hereditary cardiomyopathies and heart rhythm disorders (HCHRDs) remains strongly influenced by the local strategies developed to overcome the variables in which genetic testing is requested. This is a monocentric study on the clinical and molecular findings of 363 pedigrees with various HCHRDs. ACMG/AMP criteria were adapted according to the ClinGen's material and internal specifications. Phenotypes were reviewed according to known disease-gene associations and the concurrence of multiple variants in the same individual. Relatives were studied when available and the significance of selected variants was supported by RNA- studies before reporting. One or more (likely) pathogenic variants were found in 80 pedigrees (22.0%), while 96 (26.4%) displayed one or more variants of uncertain significance (VUS) only. The 132 identified VUS were sub-tiered according to the Bayesian score in three categories presenting distinguishable patterns of selected criteria. VUS_high showed profiles of key molecular criteria and resembled deleterious variants according to the combinations of assigned criteria, while the VUS_low category displayed a high chance of conflicting combinations of criteria and unsupported disease-gene associations. Reclassification to likely pathogenic by the application of applicable clinical criteria (PVS1_Strength, PP1 and PP4) was accessible to VUS_high and a few VUS_mid only. This work supports the combined need to (i) introduce VUS sub-tiering, (ii) consider known disease-gene associations, (iii) stringently apply clinical criteria and (iv) incorporate RNA data to improve the clinical significance of genetic testing in HCHRDs.</p>","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143994829","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":"Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration.","authors":"So Okubo, Takashi Matsukawa, Norifumi Kawamoto, Masahiko Tsujita, Kenta Orimo, Hiroya Naruse, Jun Mitsui, Masashi Hamada, Wataru Satake, Tatsushi Toda","doi":"10.1038/s10038-025-01342-0","DOIUrl":"https://doi.org/10.1038/s10038-025-01342-0","url":null,"abstract":"<p><p>PLA2G6-associated neurodegeneration (PLAN) encompasses a spectrum of phenotypes caused by biallelic pathogenic variants in PLA2G6. Initially linked to infantile and atypical neuroaxonal dystrophy, PLAN now includes adult-onset conditions such as dystonia-parkinsonism, ataxia, and spastic paraplegia. We report a female patient presenting young-onset parkinsonism with pyramidal tract signs, cerebellar atrophy, and autonomic dysfunction, mimicking multiple system atrophy (MSA). Neuroimaging showed decreased dopamine uptake and cerebellar hypoperfusion. Genetic analysis identified a homozygous pathogenic variant in PLA2G6 (c.967G>A, p.Val323Met), confirming a diagnosis of PLAN. Interestingly, elevated serum autotaxin levels (4.67 ng/mL) without liver abnormalities. Bilateral brachymetatarsia was also observed, which may indicate an association with the PLA2G6 variant. This case underscores the importance of considering PLAN in cases of young-onset parkinsonism with multisystem involvement. Genetic testing is crucial for accurate diagnosis and management of such cases. Elevated serum autotaxin levels may be associated with decreased phospholipase activity in PLAN and warrants further investigation.</p>","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144024130","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}