Molecular genetics and metabolism最新文献

{"title":"Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases","authors":"Ruqaiah Altassan ,&nbsp;Sarah K. Aldhahri ,&nbsp;Georgia Macdonald ,&nbsp;Rameen Shah ,&nbsp;Eva Morava","doi":"10.1016/j.ymgme.2025.109196","DOIUrl":"10.1016/j.ymgme.2025.109196","url":null,"abstract":"<div><div>GMPPA-Congenital Disorder of Glycosylation (CDG) is an ultra-rare autosomal recessive CDG caused by pathogenic variants in <em>GMPPA</em> that affects the N-linked glycosylation pathway. Affected individuals present with three major symptoms: achalasia, alacrima, and impaired intellectual development during infancy. Current management of GMPPA-CDG is targeted to address patients' symptoms. To date, 23 individuals have been reported with GMPPA-CDG.</div><div>This paper reviews the clinical, biochemical and genetic characteristics of the reported 23 patients and adds 3 patients with GMPPA-CDG. We also describe the effect of oral <em>N</em>-acetylglucosamine (GlcNAc) supplementation in 3 patients.</div><div>Besides alacrima, achalasia and developmental/ intellectual disability, we noted in these patients also variable growth impairment, facial dysmorphism, hyperkeratosis, hypohidrosis, anodontia, and hearing deficit. Under treatment with GlcNAc (4–6 g/day), we noted improved tear production in our 3 patients.</div><div>Given its effect on different developmental pathways, we emphasize the need for multidisciplinary care for this multisystem disorder. We did not find a genotype/phenotype correlation in our cohort of 26 patients.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"146 1","pages":"Article 109196"},"PeriodicalIF":3.7,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144686788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future","authors":"Andrew C. Edmondson ,&nbsp;Tomáš Honzík ,&nbsp;Christina Lam ,&nbsp;Katrin Õunap ,&nbsp;Peter McWilliams ,&nbsp;Eva Morava","doi":"10.1016/j.ymgme.2025.109188","DOIUrl":"10.1016/j.ymgme.2025.109188","url":null,"abstract":"<div><div>Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) accounts for about 60 % of all CDGs and is caused by pathogenic variants of the gene encoding PMM2, which catalyzes an essential early step in N-linked glycosylation. Efforts to derive an accurate prevalence estimate for this often life-threatening disorder, for which there are currently no approved therapies, are hampered by the wide spectrum of clinical manifestations, the rarity of the disease, and the lack of a central global patient registry. Here, we calculated new estimates of PMM2-CDG incidence and prevalence in North America and Europe based on the frequency of disease-causing alleles using the Hardy–Weinberg equation. Allele frequencies were obtained from the Genome Aggregation Database (gnomAD v4.0) and the likelihood of specific allele combinations resulting in a live birth was adjusted based on the occurrence of genotypes in patient datasets and the expected consequences for protein function. New incidence and prevalence estimates were then calculated in the context of historical ethnicity and birth data from national statistical databases, combined with estimated patient mortality rates. The calculated new incidence estimate was 1 in 33,576 for North America and Europe combined (1 in 40,375 and 29,043, respectively), which predicts an average of 303 live births per year for both regions combined since 1980. The new prevalence estimate was 1 in 63,694 (1 in 76,183 and 57,022 in North America and Europe, respectively), which translates to a total of 14,154 patients living with PMM2-CDG in North America and Europe. Notably, this prevalence is more than 5-fold higher than the current estimate of 2447 diagnosed cases combined, and 10-fold higher than the worldwide prevalence most frequently quoted in the literature. These striking differences highlight the underdiagnosis of the disease and the critical need for improved diagnostic and therapeutic strategies for PMM2-CDG.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"146 1","pages":"Article 109188"},"PeriodicalIF":3.5,"publicationDate":"2025-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144723100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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 genetic variants associated with Fabry nephropathy progression using whole-exome sequencing","authors":"Tina Levstek ,&nbsp;Bojan Vujkovac ,&nbsp;Albina Nowak ,&nbsp;João-Paulo Oliveira ,&nbsp;Gabriela Dostálová ,&nbsp;Aleš Linhart ,&nbsp;Markéta Šafaříková ,&nbsp;Gheona Altarescu ,&nbsp;Katarina Trebušak Podkrajšek","doi":"10.1016/j.ymgme.2025.109191","DOIUrl":"10.1016/j.ymgme.2025.109191","url":null,"abstract":"<div><div>Fabry nephropathy, a common complication of Fabry disease (FD), presents with a heterogeneous clinical phenotype. To date, genetic biomarkers associated with the progression of Fabry nephropathy have not been thoroughly investigated. The aim of our study was therefore to identify genetic variants associated with nephropathy progression in FD.</div><div>A total of 300 Caucasian patients were enrolled and stratified into two groups based on their estimated glomerular filtration rate (eGFR). Whole-exome sequencing was performed, and variants in a curated panel of 190 genes related to podocyte homeostasis were subjected to bioinformatic analysis.</div><div>We identified six genetic variants with a false discovery rate (FDR) below 0.05. Five of these variants were located in non-coding regions: the 3′ untranslated region (UTR) (<em>YRDC</em>: rs7686, <em>TPPP</em>: rs28364690), the 5’ UTR (<em>SNCA</em>: rs1372518), an upstream region (<em>COL4A2</em>: rs7320419), and a non-coding exon (<em>DLC1</em>: rs10888175). Each of these variants was associated with an odds ratio less than one, suggesting a potential protective effect against nephropathy progression. In contrast, the coding variant rs749735949 in the <em>FAT1</em> gene (FDR = 0.032) was associated with an odds ratio of 14.9, indicating a markedly increased risk of progressive nephropathy in carriers.</div><div>These findings suggest that rs749735949 in <em>FAT1</em> may serve as a predictive biomarker for accelerated eGFR decline, and could support the identification of biological targets for the prevention and improved management of Fabry nephropathy.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"145 4","pages":"Article 109191"},"PeriodicalIF":3.7,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144614728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"SIMD concerns over federal support changes affecting newborn screening","authors":"Susan Berry ,&nbsp;Shibani Kanungo ,&nbsp;Erin Cooney","doi":"10.1016/j.ymgme.2025.109190","DOIUrl":"10.1016/j.ymgme.2025.109190","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"145 4","pages":"Article 109190"},"PeriodicalIF":3.7,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144687182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial","authors":"Eugen Mengel ,&nbsp;Rosalia M. Da Riol ,&nbsp;Mireia Del Toro ,&nbsp;Federica Deodato ,&nbsp;Matthias Gautschi ,&nbsp;Stephanie Grunewald ,&nbsp;Sabine Weller Grønborg ,&nbsp;Paul Harmatz ,&nbsp;Julia B. Hennermann ,&nbsp;Bénédicte Héron ,&nbsp;Esther M. Maier ,&nbsp;Saikat Santra ,&nbsp;Reena Sharma ,&nbsp;Anna Tylki-Szymanska ,&nbsp;Malene Cording ,&nbsp;Louise Himmelstrup ,&nbsp;Sven Guenther ,&nbsp;Christine í Dali","doi":"10.1016/j.ymgme.2025.109189","DOIUrl":"10.1016/j.ymgme.2025.109189","url":null,"abstract":"<div><h3>Background</h3><div>This paper presents efficacy and safety outcomes from the 48-month open-label extension (OLE) of the phase 2/3 NPC-002 trial (<span><span>NCT02612129</span><svg><path></path></svg></span>) which evaluated arimoclomol treatment in patients with Niemann-Pick disease type C (NPC). Arimoclomol was recently approved by the US Food and Drug Administration for treatment of NPC in combination with miglustat.</div></div><div><h3>Methods</h3><div>Patients with NPC who completed the double-blind (DB) phase of the randomized controlled NPC-002 trial were eligible to continue in the OLE, during which all patients received arimoclomol in addition to routine clinical care. Primary efficacy outcomes were the 5-domain NPC Clinical Severity Scale (5DNPCCSS), and the rescored 4-domain NPCCSS (R4DNPCCSS), which was introduced <em>post-hoc</em>. Additional outcomes included NPC-specific measures (full scale NPCCSS, and NPC clinical database [NPC-cdb] score), and safety evaluations.</div></div><div><h3>Results</h3><div>Of the 50 patients who started the DB phase, 41 entered the OLE phase, with 29 completing 48 months. During the OLE, mean (SD) 5DNPCCS and R4DNPCCSS scores increased by 3.2 (4.8) and 2.7 (4.2) over 48 months, respectively. Among patients switching from placebo to arimoclomol after the DB phase, mean annual change in 5DNPCCSS decreased from 2.0 (on placebo) to 0.1 in the first year of receiving arimoclomol and mean annual change in R4DNPCCSS decreased from 1.9 to 0.2, indicating slowing of disease progression. Annual scores for both endpoints remained numerically smaller throughout the OLE than during the DB phase. The score pattern in the subset of patients who received miglustat as part of their standard care regime in addition to arimoclomol (<em>N</em> = 33) was similar to that seen in the total population. 17-domain NPCCSS (excluding hearing domains) and NPC-cdb results further supported sustained efficacy of arimoclomol. Arimoclomol was well-tolerated over 48 months, with no new safety concerns identified.</div></div><div><h3>Conclusion</h3><div>The OLE of the NPC-002 trial provides evidence for a sustained reduction in disease progression for at least 5 years in a heterogeneous population of NPC patients receiving arimoclomol in addition to routine clinical care, with no new safety concerns. These results align with the statistically significant and clinically meaningful reduction in disease progression observed over 12-months in the DB phase, further highlighting the potential of arimoclomol as an effective and well tolerated disease modifying treatment for NPC.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"145 4","pages":"Article 109189"},"PeriodicalIF":3.7,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144631124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The clinical utility of short-term protein substitute use during intercurrent illness in BH4-responsive phenylketonuria","authors":"Selin Akbulut ,&nbsp;Esma Uygur ,&nbsp;Tanyel Zubarioglu ,&nbsp;Mehmet Şerif Cansever ,&nbsp;Ertuğrul Kiykim ,&nbsp;Çiğdem Aktuğlu Zeybek","doi":"10.1016/j.ymgme.2025.109187","DOIUrl":"10.1016/j.ymgme.2025.109187","url":null,"abstract":"<div><h3>Objective</h3><div>Phenylketonuria (PKU) is a metabolic disorder that is primarily treated with dietary phenylalanine (Phe) restriction and/or tetrahydrobiopterin (BH4) therapy. Dietary liberalization is often possible in BH4-responsive PKU patients; however, metabolic control may be impaired during catabolic stress such as illness or fever. The aim of this study was to investigate the efficacy of temporary protein substitution (Phe-free amino acid mixture; PFAAM) during intercurrent illness in BH4-responsive PKU patients managed without dietary protein restriction.</div></div><div><h3>Methods</h3><div>This retrospective case series, descriptive study included ten BH4-responsive PKU patients treated with BH4 monotherapy. All patients received PFAAM supplementation exclusively during febrile or disease-related episodes. Clinical, biochemical and genetic data were obtained from medical records. Blood Phe levels were determined before and after PFAAM intake during illness episodes.</div></div><div><h3>Results</h3><div>All patients experienced a significant increase in blood Phe levels during febrile illnesses despite receiving maximum BH4 dose (20 mg/kg/day). PFAAM supplementation initiated at a median dose of 0.3–1.5 g/kg/day resulted in a rapid decrease in blood Phe levels, often within a few days. In most cases, PFAAM was gradually discontinued once metabolic control was restored, and no patient required long-term dietary Phe restriction. The intervention allowed restoration of metabolic control while maintaining a liberal dietary regimen.</div></div><div><h3>Conclusions</h3><div>Temporary PFAAM supplementation during intercurrent illness appears to be an effective adjunct to BH4 therapy to control transient elevations in blood Phe levels. This approach may support metabolic stability without the need for permanent dietary restriction in BH4-responsive PKU patients. Further prospective studies are needed to validate these results in larger cohorts.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"145 4","pages":"Article 109187"},"PeriodicalIF":3.7,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144597501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dolichol synthesis defects: a cautionary note on the use of statins","authors":"Matthew P. Wilson ,&nbsp;Eva Morava","doi":"10.1016/j.ymgme.2025.109186","DOIUrl":"10.1016/j.ymgme.2025.109186","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"145 4","pages":"Article 109186"},"PeriodicalIF":3.7,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144570163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The current social status in adult patients with urea cycle disorders in Japan","authors":"Jun Kido ,&nbsp;Johannes Häberle ,&nbsp;Keishin Sugawara ,&nbsp;Mitsuru Watanabe ,&nbsp;Koji Imoto ,&nbsp;Kazuhiro Yokota ,&nbsp;Minori Kodaira ,&nbsp;Nozomi Harai ,&nbsp;Ken Sato ,&nbsp;Keisuke Kakisaka ,&nbsp;Yusuke Hattori ,&nbsp;Kimitoshi Nakamura","doi":"10.1016/j.ymgme.2025.109185","DOIUrl":"10.1016/j.ymgme.2025.109185","url":null,"abstract":"<div><div>Urea cycle disorders (UCDs) are inherited metabolic conditions that lead to inadequate nitrogen detoxification due to defects in urea cycle enzymes or transporters. The severity of UCDs is classified into two types: neonatal onset (severe) and late onset (often milder). This cross-sectional study aimed to assess the levels of intelligence, developmental disabilities, and social functioning in adult patients with UCDs in Japan. A total of 116 adult patients with UCDs were enrolled in the study, including 10 with carbamoyl phosphate synthetase 1 deficiency, 69 with ornithine transcarbamylase deficiency (OTCD), 17 with argininosuccinate synthetase deficiency, 9 with argininosuccinate lyase deficiency, 4 with arginase 1 deficiency, and 7 with Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome. Of these, 25 (21.6 %) developed symptoms during the neonatal period (within 28 days after birth), while 86 (74.1 %) presented with symptoms after 28 days of age. The age of onset was unknown in 5 patients. This study included 111 surviving patients and 5 deceased patients (3 with OTCD and 2 with CPS1D). Fifty-three patients (45.7 %) experienced intellectual disabilities, while 48 (41.4 %) had non-intellectual disabilities. Additionally, learning disorders and communication disorders were common among many of the study participants. Sixty patients (51.7 %) graduated from regular high school, and most patients with intellectual disabilities graduated from special education schools. Almost half of the patients (51, 44.0 %) were able to obtain jobs, including simple tasks in supported workplaces, and received compensation for their work. Notably, more patients with OTCD could demonstrate higher social performance including experience of higher education and marriage. However, even OTCD patients without intellectual disabilities often struggled with specific neurobehavioral issues. This study provides information on the social situation of adult UCD patients and underlines the importance for clinicians, as well as society and communities, to understand the ongoing challenges faced by patients with UCDs in order to provide better support.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"145 4","pages":"Article 109185"},"PeriodicalIF":3.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144563501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A review of disorders of cardiolipin metabolism: Pathophysiology, clinical presentation and future directions","authors":"Olivia Sniezek Carney ,&nbsp;Kodi Harris ,&nbsp;Madison Santizo ,&nbsp;Valeria Silva ,&nbsp;Jhanay Davis ,&nbsp;Kyuna Lee ,&nbsp;Sharada Vishwanath ,&nbsp;Anne Hamacher-Brady ,&nbsp;Hilary J. Vernon","doi":"10.1016/j.ymgme.2025.109184","DOIUrl":"10.1016/j.ymgme.2025.109184","url":null,"abstract":"<div><div>Cardiolipin is a mitochondria-specific phospholipid essential for maintaining mitochondrial membrane architecture, supporting respiratory chain function, and regulating apoptotic signaling. Its biosynthesis and remodeling are mediated by a coordinated set of enzymes, and disruptions in this pathway are increasingly recognized as causes of inherited mitochondrial diseases. This review provides a comprehensive overview of the genetic disorders associated with defects in cardiolipin metabolism, highlighting genetic and molecular characteristics, clinical manifestations, and available models with which to study these diseases. We examine the roles of key genes involved in cardiolipin biosynthesis (<em>PGS1</em>, <em>CRLS1</em>) and remodeling (<em>TAZ</em>, <em>AGK</em>, among others), and describe how pathogenic variants disrupt mitochondrial function. The prototypical disorder, Barth syndrome, is discussed in depth alongside recently identified conditions linked to defects in related enzymes.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"145 4","pages":"Article 109184"},"PeriodicalIF":3.7,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144580908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effective algorithm to differentiate NBS MCADD cases from carriers and non-carriers and an assessment of the utility of the second newborn screen for MCADD","authors":"Matthew T. Snyder ,&nbsp;Kristian Divin ,&nbsp;Ning Liu ,&nbsp;Qin Sun ,&nbsp;Yue Wang ,&nbsp;Xi Luo ,&nbsp;Yishay Ben-Moshe ,&nbsp;Lindsay C. Burrage ,&nbsp;V. Reid Sutton","doi":"10.1016/j.ymgme.2025.109183","DOIUrl":"10.1016/j.ymgme.2025.109183","url":null,"abstract":"<div><div>False positives are an inherent part of newborn screening that can increase both costs to the healthcare system and parental anxiety. Previous studies primarily examined presumptive positive rates for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in places conducting one newborn screen (NBS), with predominantly white, non-Hispanic subjects. Texas performs two NBSs and there is a majority Hispanic population in our region. This study aims to analyze biochemical and DNA data to more easily distinguish affected individuals from carriers or healthy non-carriers and identify benefits and challenges of a second NBS for MCADD. Biochemical and targeted DNA data from NBS dried blood spots (DBS) were analyzed, alongside diagnostic biochemical and DNA testing. A Kruskal Wallis Test with Dunn's post-test was performed to compare the groups. Significant differences in all analyte values were observed among MCADD, carrier and non-carrier groups, and between carriers and non-p.Lys329Glu homozygous MCADD cases. Many false positives were detected due to low DBS C8 cutoff and the second NBS. An analyte algorithm including DBS C8, plasma acylcarnitine C6, and plasma C8/C10 was identified and discriminated MCADD cases from carrier and non-carrier cases. All cases with MCADD were identified on the first NBS demonstrating limited utility of a second NBS for MCADD.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"145 4","pages":"Article 109183"},"PeriodicalIF":3.7,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144611728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}