Frontiers in Genetics最新文献_第6页

Editorial: Unravelling complex biobehavioural contributors to obesity: omics, neural, and environmental considerations 社论：揭示肥胖的复杂生物行为因素：omics、神经和环境因素

Frontiers in Genetics Pub Date : 2024-02-06 DOI: 10.3389/fgene.2024.1371642

Daiva E. Nielsen, S. Adise, Xue Sun Davis

引用次数: 0

Editorial: Unravelling complex biobehavioural contributors to obesity: omics, neural, and environmental considerations 社论：揭示肥胖的复杂生物行为因素：omics、神经和环境因素

Frontiers in Genetics Pub Date : 2024-02-06 DOI: 10.3389/fgene.2024.1371642

Daiva E. Nielsen, S. Adise, Xue Sun Davis

引用次数: 0

Case Report: From epilepsy and uterus didelphys to Turner syndrome-associated dysgerminoma 病例报告：从癫痫和双子宫到特纳综合征相关性胚胎发育不良瘤

Frontiers in Genetics Pub Date : 2024-01-11 DOI: 10.3389/fgene.2023.1286515

Jinghua Li, Haipeng Zhu, Xuelian Ma, Jia Li, Jing Xue, Limin Feng

{"title":"Case Report: From epilepsy and uterus didelphys to Turner syndrome-associated dysgerminoma","authors":"Jinghua Li, Haipeng Zhu, Xuelian Ma, Jia Li, Jing Xue, Limin Feng","doi":"10.3389/fgene.2023.1286515","DOIUrl":"https://doi.org/10.3389/fgene.2023.1286515","url":null,"abstract":"Dysgerminoma is a rare occurrence in Turner syndrome patients without Y chromosome mosaicism or hormone therapy during puberty. We present a unique case of a 33-year-old nulliparous Chinese woman with intermittent epilepsy and Mullerian anomalies carrying a double uterus, cervix, and vagina. The patient is also characterized as having Turner syndrome accompanied by 46,X, del(Xp22.33-11.23) and del(2)(q11.1-11.2). MRI exhibited a 17.0 cm × 20.0 cm × 10.5 cm solid ovarian lesion. Radical surgery and pathology revealed dysgerminoma at stage IIIc with lymphatic metastases and a KIT gene mutation identified in exon 13. Furthermore, the tumor microenvironment (TME) displayed robust expression of CD4+ T lymphocytes and PD-1, whereas the distribution of CD8+ T lymphocytes and PDL-1 was sporadic. Despite the administration of enoxaparin to prevent thromboembolism, the patient experienced multiple cerebral infarctions during chemotherapy. Subsequently, the patient chose to decline further treatment and was discharged. This exceptional case imparts several noteworthy lessons. First, the coexistence of Mullerian anomalies, although rare, is not incompatible with Turner syndrome. Second, screening for KIT mutations is imperative to reduce the risk of dysgerminoma in Turner syndrome, especially for patients with Y mosaicism who are recommended for hormone replacement therapy. Lastly, comprehensive anticoagulation therapy is crucial for Turner syndrome patients undergoing cisplatin-based chemotherapy.","PeriodicalId":510338,"journal":{"name":"Frontiers in Genetics","volume":"28 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139438609","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Editorial: Genetics of inflammatory and immune diseases 社论：炎症和免疫疾病的遗传学

Frontiers in Genetics Pub Date : 2024-01-08 DOI: 10.3389/fgene.2023.1355794

Tianyu Wang, Yunqing Ren, Xianyong Yin, Yonghu Sun

引用次数: 0

Erratum: Community dynamics and co-occurrence relationships of pelagic ciliates and their potential prey at a coastal and an offshore station in the ultra-oligotrophic Eastern Mediterranean Sea 勘误：地中海东部超低营养盐沿海和近海站点浮游纤毛虫及其潜在猎物的群落动态和共生关系

Frontiers in Genetics Pub Date : 2024-01-05 DOI: 10.3389/fgene.2023.1358985

引用次数: 0

Erratum: Integration of multiple-omics data to reveal the shared genetic architecture of educational attainment, intelligence, cognitive performance, and Alzheimer’s disease 勘误：整合多种组学数据，揭示教育程度、智力、认知能力和阿尔茨海默病的共同基因结构

Frontiers in Genetics Pub Date : 2024-01-05 DOI: 10.3389/fgene.2023.1359014

引用次数: 0

Clinical manifestations and genetic analysis of a newborn with Arboleda-Tham syndrome. 新生儿Arboleda-Tham综合征1例临床表现及遗传分析。

IF 3.7

Frontiers in Genetics Pub Date : 2022-10-25 eCollection Date: 2022-01-01 DOI: 10.3389/fgene.2022.990098

Feng Zeng, Yue Yang, Zhaohui Xu, Ziwen Wang, Huan Ke, Jianhong Zhang, Tongtong Dong, Wenming Yang, Jiuxiang Wang

{"title":"Clinical manifestations and genetic analysis of a newborn with Arboleda-Tham syndrome.","authors":"Feng Zeng, Yue Yang, Zhaohui Xu, Ziwen Wang, Huan Ke, Jianhong Zhang, Tongtong Dong, Wenming Yang, Jiuxiang Wang","doi":"10.3389/fgene.2022.990098","DOIUrl":"https://doi.org/10.3389/fgene.2022.990098","url":null,"abstract":"Arboleda-Tham syndrome (ARTHS) is a rare disorder first characterized in 2015 and is caused by mutations in lysine (K) acetyltransferase 6A (KAT6A, a.k.a. MOZ, MYST3). Its clinical symptoms have rarely been reported in newborns from birth up to the first few months after birth. In this study, a newborn was diagnosed with ARTHS based on the clinical symptoms and a mutation c.3937G>A (p.Asp1313Asn) in KAT6A. The clinical manifestations, diagnosis, and treatment of the newborn with ARTHS were recorded during follow-up observations. The main symptoms of the proband at birth were asphyxia, involuntary breathing, low muscle tone, early feeding, movement difficulties, weak crying, weakened muscle tone of the limbs, and embrace reflex, and facial features were not obvious at birth. There was obvious developmental delay, as well as hypotonic and oro-intestinal problems in the first few months after birth. Mouse growth factor was used to nourish the brain nerves, and touching, kneading the back, passive movements of the limbs, and audio-visual stimulation were used for rehabilitation. We hope that this study expands the phenotypic spectrum of this syndrome to newborns and the library of KAT6A mutations that lead to ARTHS. Consequently, the data can be used as a basis for genetic counseling and in clinical and prenatal diagnosis for ARTHS prevention.","PeriodicalId":510338,"journal":{"name":"Frontiers in Genetics","volume":" ","pages":"990098"},"PeriodicalIF":3.7,"publicationDate":"2022-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9641261/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40492189","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Editorial: Development of Healthy and Nutritious Cereals: Recent Insights on Molecular Advances in Breeding. 社论:健康和营养谷物的发展:育种分子进展的最新见解。

IF 3.7

Frontiers in Genetics Pub Date : 2021-03-18 eCollection Date: 2021-01-01 DOI: 10.3389/fgene.2021.635006

B P Mallikarjuna Swamy, Balram Marathi, Ana I F Ribeiro-Barros, Felipe Klein Ricachenevsky

引用次数: 6

Deletion of FUNDC2 and CMC4 on Chromosome Xq28 Is Sufficient to Cause Hypergonadotropic Hypogonadism in Men. Xq28染色体上的FUNDC2和CMC4缺失足以引起男性促性腺激素亢进症。

IF 3.7

Frontiers in Genetics Pub Date : 2020-09-22 eCollection Date: 2020-01-01 DOI: 10.3389/fgene.2020.557341

Xinxian Deng, He Fang, Asha Pathak, Angela M Zou, Whitney Neufeld-Kaiser, Emily A Malouf, Richard A Failor, Fuki M Hisama, Yajuan J Liu

{"title":"Deletion of FUNDC2 and CMC4 on Chromosome Xq28 Is Sufficient to Cause Hypergonadotropic Hypogonadism in Men.","authors":"Xinxian Deng, He Fang, Asha Pathak, Angela M Zou, Whitney Neufeld-Kaiser, Emily A Malouf, Richard A Failor, Fuki M Hisama, Yajuan J Liu","doi":"10.3389/fgene.2020.557341","DOIUrl":"https://doi.org/10.3389/fgene.2020.557341","url":null,"abstract":"Background: Hypergonadotropic hypogonadism (HH) is characterized by low sex steroid levels and secondarily elevated gonadotropin levels with either congenital or acquired etiology. Genetic factors leading to HH have yet to be fully elucidated.Methods: Here, we report on genome and transcriptome data analyses from a male patient with HH and history of growth delay who has an inherited deletion of chromosome Xq28. Expression analyses were done for this patient and his unaffected family members and compared to normal controls to identify dysregulated genes due to this deletion.Results: Our patient's Xq28 deletion is 44,806 bp and contains only two genes, FUNDC2 and CMC4. Expression of both FUNDC2 and CMC4 are completely abolished in the patient. Gene ontology analyses of differentially expressed genes (DEGs) in the patient in comparison to controls show that significantly up-regulated genes in the patient are enriched in Sertoli cell barrier (SCB) regulation, apoptosis, inflammatory response, and gonadotropin-releasing regulation. Indeed, our patient has an elevated follicle stimulating hormone (FSH) level, which regulates Sertoli cell proliferation and spermatogenesis. In his mother and sister, who are heterozygous for this deletion, X-chromosome inactivation (XCI) is skewed toward the deleted X, suggesting a mechanism to avoid FSH dysregulation.Conclusion: Compared to the previously reported men with variable sized Xq28 deletions, our study suggests that loss of function of FUNDC2 and CMC4 results in dysregulation of apoptosis, inflammation, and FSH, and is sufficient to cause Xq28-associated HH.","PeriodicalId":510338,"journal":{"name":"Frontiers in Genetics","volume":" ","pages":"557341"},"PeriodicalIF":3.7,"publicationDate":"2020-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3389/fgene.2020.557341","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38607827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 6

Multi-Tissue Transcriptome Profiling of North American Derived Atlantic Salmon. 北美大西洋鲑鱼多组织转录组分析。

IF 3.7

Frontiers in Genetics Pub Date : 2018-09-13 eCollection Date: 2018-01-01 DOI: 10.3389/fgene.2018.00369

Amin R Mohamed, Harry King, Bradley Evans, Antonio Reverter, James W Kijas

{"title":"Multi-Tissue Transcriptome Profiling of North American Derived Atlantic Salmon.","authors":"Amin R Mohamed, Harry King, Bradley Evans, Antonio Reverter, James W Kijas","doi":"10.3389/fgene.2018.00369","DOIUrl":"https://doi.org/10.3389/fgene.2018.00369","url":null,"abstract":"The availability of a reference genome assembly for Atlantic salmon, Salmo salar, SNP genotyping platforms and low cost sequencing are enhancing the understanding of both life history and production-related traits in this important commercial species. We collected and analyzed transcriptomes from selected tissues of Atlantic salmon to inform future functional and comparative genomics studies. Messenger RNA (mRNA) was isolated from pituitary gland, brain, ovary, and liver before Illumina sequencing produced a total of 640 million 150-bp paired-end reads. Following read mapping, feature counting, and normalization, cluster analysis identified genes highly expressed in a tissue-specific manner. We identified a cluster of 508 tissue specific genes for pituitary gland, 3395 for brain, 2939 for ovary, and 539 for liver. Functional profiling identified gene clusters describing the unique functions of each tissue. Moreover, highly-expressed transcription factors (TFs) present in each tissue-specific gene cluster were identified. TFs belonging to homeobox and bhlh families were identified for pituitary gland, pou and zf-c2h2 families for brain, arid, and zf-c2h2 for ovary and rxr-like family for liver. The data and analysis presented are relevant to the emerging Functional Annotation of All Salmonid Genomes (FAASG) initiative that is seeking to develop a detailed understanding of both salmonid evolution and the genomic elements that drive gene expression and regulation.","PeriodicalId":510338,"journal":{"name":"Frontiers in Genetics","volume":" ","pages":"369"},"PeriodicalIF":3.7,"publicationDate":"2018-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3389/fgene.2018.00369","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36538885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 10