GERMLINE

作品数：110被引量：193H指数：7
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PCSK9 V474I germline variant drives breast cancer metastasis
《Life Metabolism》2025年第1期1-3,共3页Hai Wang Zhiming Shao 
Breast cancer metastasis remains the leading cause of mortality in patients,yet its mechanisms are poorly understood.A recent Cell paper highlights the pivotal role of the proprotein convertase subtilisin/kexin type 9...
关键词：METASTASIS cancer MORTALITY 
Identification of a novel germline APC N-terminal pathogenic variant associated with attenuated familial adenomatous polyposis
《Genes & Diseases》2024年第6期12-15,共4页Giovanna Forte Valentina Grossi Filomena Cariola Antonia Lucia Buonadonna Paola Sanese Katia De Marco Candida Fasano Martina Lepore Signorile Vittoria Disciglio Cristiano Simone 
Adenomatouspolyposis coli(APC)is akey tumor suppressor gene playing a central role in the Wnt signaling pathway throughβ-catenin down-regulation.1 APC germline pathogenic variants are associated with familial adenoma...
关键词：POLYPOSIS adenomatous FAMILIAL 
Germline pathogenic variants among high hereditary risk patients with breast and ovarian cancer and unaffected subjects in Lebanese Arab women
《World Journal of Clinical Oncology》2024年第12期1481-1490,共10页Hiba A Moukadem Mohammad A Fakhreddine Nada Assaf Nadine Safi Ahmad Al Masry Monita Al Darazi Rami Mahfouz Nagi S El Saghir 
BACKGROUND The prevalence of germline pathogenic variants in high hereditary risk breast and/or ovarian cancer patients and unaffected subjects referred for testing is an unmet need in low and middle-income countries....
关键词：Breast cancer Ovarian cancer Breast cancer susceptibility gene 1/2 Germline pathogenic variant High hereditary risk 
Interplay of RNA-binding proteins controls germ cell development in zebrafish
《Journal of Genetics and Genomics》2024年第9期889-899,共11页De-Li Shi 
The specification of germ cells in zebrafish mostly relies on an inherited mechanism by which localized maternal determinants,called germ plasm,confer germline fate in the early embryo.Extensive studies have partially...
关键词：GERMPLASM Primordialgerm cell Germlinestem cell GAMETOGENESIS ZEBRAFISH RNA-binding protein Posttranscriptional gene expression Translational activation and repression 
Soma-germline communication drives sex maintenance in the Drosophila testis
《National Science Review》2024年第8期92-107,共16页Rui Zhang Peiyu Shi Shuyang Xu Zhe Ming Zicong Liu Yuanyuan He Junbiao Dai Erika Matunis Jin Xu Qing Ma 
supported by the National Key Research and Development Program of China(2022YFA0912900 to Q.Ma);the National Natural Science Foundation of China(32070870 to Q.Ma,32070644,32293190,and 32293191 to J.Xu);the Guangdong Basic and Applied Basic Research Foundation(2021A1515010758 to Q.Ma,2024A1515011285 to J.Xu);the Guangdong Provincial Key Laboratory of Synthetic Genomics(2023B1212060054 to Q.Ma);the Shenzhen Key Laboratory of Synthetic Genomics(ZDSYS201802061806209 to Q.Ma);the Shenzhen Institute of Synthetic Biology Scientific Research Program(ZTXM20200008 and DWKF20210003 to Q.Ma);the Strategic Priority Research Program of the Chinese Academy of Sciences(XDB0480000 to Q.Ma);the National Institutes of Health(R35GM136665 to E.Matunis);the Guangzhou Key Research and Development Program(2023B03J1347 to J.Xu).
In adult gonads,disruption of somatic sexual identity leads to defective gametogenesis and infertility.However,the underlying mechanisms by which somatic signals regulate germline cells to achieve proper gametogenesis...
关键词：Drosophila testis somatic stem cell sex conversion single-cell sequencing soma-germline communication insulin signaling 
The germline genetics of mild-to-moderate penetrance:An intriguing role of PRAME in multiple carcinogenesis
《Genes & Diseases》2024年第3期7-10,共4页Diaddin Hamdan Van Tai Nguyen Justine Paris Christophe Leboeuf Morad El Bouchtaoui Marc Espie Anne Janin Geraldine Falgarone Melanie Di Benedetto Guithem Bousquet 
Germline genetics of high penetrance such as BRCA genes,mutations might be sufficient for carcinogenesis,but this only explains fewer than 10%of cancers.We assume that most cancers are the result of germline mutations...
关键词：CARCINOGENESIS BRCA LINKAGE 
Medaka factor in the germline alpha(figα)is indispensable for oogenesis but not for gonadal sex differentiation被引量：1
《Aquaculture and Fisheries》2024年第3期347-354,共8页Katsuyasu Kamimura Masato Kinoshita Akira Kanamori 
supported in part by a Grant-in-Aid for Scientific Research from JSPS(15K07127 to AK and MK).
A basic helix-loop-helix transcription factor,figα,is one of the earliest marker genes of oocyte differentiation in vertebrates.In the present study,we made figαknockout medaka by CRISPR/Cas9,expecting aborted progr...
关键词：bHLH transcription factor CRISPR/Cas9 Pachytene checkpoint Oocyte growth MEDAKA 
Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome
《Genes & Diseases》2024年第2期524-527,共4页Noemi Gonzalez-Abuin Tirso Pons Teresa Fuster Isabel Quintana Mariona Terradas Gemma Aiza Joan Brunet Gabriel Capellá Heather Hampel Laura Valle 
funded by the Spanish Ministry of Science and Innovation(Agencia Estatal de Investigacion),co-funded by FEDER funds-a way to build Europe-[PID2020-112595RB-I00(LV)];Instituto de Salud Carlos Ⅲ(CIBERONC CB16/12/00234);Government of Catalonia(AGAUR 2021SGR01112,CERCA Program for institutional support);Marie Sktodowska-Curie Individual Fellow ship(No.897064(NG-A));Scientific Foundation"Asociacion Espanola Contra el Cancer"[AECC Investigador contract(MT)].
Germline activating variants in WWP1,which encodes an E3 ubiquitin ligase that antagonizes PTEN tumor suppressive function,have been proposed as an alternative mechanism of PTEN inactivation in PTEN-hamartoma-tumor sy...
关键词：WWP1 gastrointestinal POLYPOSIS 
From germline genome to highly fragmented somatic genome:genome-wide DNA rearrangement during the sexual process in ciliated protists
《Marine Life Science & Technology》2024年第1期31-49,共19页Liping Lyu Xue Zhang Yunyi Gao Tengteng Zhang Jinyu Fu Naomi A.Stover Feng Gao 
funded by the Laoshan Laboratory(No.LSKJ202203202);the National Natural Science Foundation of China(32270539,31922013,31961123002);the Natural Science Foundation of Shandong Province(ZR2020JQ13);Royal Society/NSFC International Exchanges Cost Share Project(IEC\NSFC\201024);National Institutes of Health(P40OD010964);the Fundamental Research Funds for the Central Universities(202141004).
Genomes are incredibly dynamic within diverse eukaryotes and programmed genome rearrangements(PGR)play important roles in generating genomic diversity.However,genomes and chromosomes in metazoans are usually large in ...
关键词：Alternative processing CILIATES Gene scrambling Genome rearrangement Germline genome Somatic genome 
Germline Gene-Editing Creates Enhanced Livestock-Technical and Especially Ethical Issues Challenge Its Use in Humans
《Engineering》2024年第2期3-5,共3页Jennifer Welsh 
Using clustered regularly interspaced short palindromic repeats(CRISPR)-based molecular tools,scientists are engineering-as they are also doing with plants.-animals with advantageous traits,like disease resistance and...
关键词：LIKELY CREATE EDITING 
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