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SpringerLink电子期刊(119)	NATURE电子期刊(3)	ACS电子期刊(5)
ProQuest学位论文(1)	Elsevier电子期刊(156)

在“Elsevier电子期刊”中，命中：156条，耗时：小于0.01 秒

在所有数据库中总计命中：284条

1.C-terminally truncated constitutively active androgen receptor variants and their biologic and clinical significance in castration-resistant prostate cancer

作者：Anca Azoitei^a ; Axel S. Merseburger^b ; Beate Godau^b ; M. Raschid Hoda^b ; Evi Schmid^c ; Marcus V. Cronauer^b ; ^{marcus.cronauer@uksh.de}

关键词：aa ; amino-acids ; ADT ; androgen deprivation therapy ; AR ; androgen receptor ; ARΔLBD ; androgen receptor lacking a functional ligand binding domain ; AR-V ; AR splice variant ; BET ; bromodomain and extra-terminal ; CE ; cryptic exon ; CRPC ; castration-resistant prostate cancer ; CTC ; circulating tumor cell ; CTD ; carboxy-terminal domain ; DBD ; DNA-binding domain ; EMT ; epithelial-mesenchymal transition ; FFPE ; formalin-fixed paraffin-embedded ; HR ; hinge region ; I ; intron ; IF ; immunofluorescence ; IGF-1 ; insulin

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

2.Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis

作者：Fiorella S. Belforte^a ; ^c ; Cintia E. Citterio^b ; ^c ; Graciela Testa^d ; Marí ; a Cecilia Olcese^a ; ^c ; Gabriela Sobrero^d ; Mirta B. Miras^d ; Hé ; ctor M. Targovnik^b ; ^c ; Carina M. Rivolta^a ; ^c ; ^{cmrivolta@conicet.gov.ar" class="auth_mail" title="E-mail the corresponding author} ; ^{crivolta@ffyb.uba.ar" class="auth_mail" title="E-mail the corresponding author}

关键词：Congenital hypothyroidism ; DUOX2 gene ; Mutation ; Compound heterozygous mutations ; Cryptic splice site

刊名：Molecular and Cellular Endocrinology

出版年：2016

3.Complete androgen insensitivity syndrome caused by a novel splice donor site mutation and activation of a cryptic splice donor site in the androgen receptor gene

作者：Joana B. Infante^a ; ¹ ; Maria I. Alvelos^a ; ¹ ; Margarida Bastos^b ; Francisco Carrilho^b ; Manuel C. Lemos^a ; ^{mclemos@fcsaude.ubi.pt" class="auth_mail" title="E-mail the corresponding author}

关键词：AR ; androgen receptor ; bp ; base-pairs ; cDNA ; complementary DNA ; DNA ; deoxyribonucleic acid ; mRNA ; messenger RNA ; PCR ; polymerase chain reaction ; RNA ; ribonucleic acid ; RT-PCR ; reverse transcription PCR ; snRNA ; small nuclear RNA

刊名：Journal of Steroid Biochemistry and Molecular Biology

出版年：2016

4.Genes in Hiding

作者：Gertraud Burger¹ ; ^{gertraud.burger@umontreal.ca" class="auth_mail" title="E-mail the corresponding author} ; Sandrine Moreira¹ ; Matus Valach¹

关键词：cryptic genes ; diplonemids ; gene fragmentation ; multipartite mitochondrial DNA (mtDNA) ; RNA editing ; trans-splicing

刊名：Trends in Genetics

出版年：2016

5.Target disruption of ribosomal protein pNO40 accelerates aging and impairs osteogenic differentiation of mesenchymal stem cells

作者：Yen-Ming Lin^a ; ¹ ; Chih-Ching Wu^b ; ¹ ; Yu-Chen Chang^c ; ^d ; Chu-Han Wu^a ; Hsien Li Ho^a ; Ji Wei Hu^e ; Ren-Chi Chang^a ; Chung-Ta Wang^a ; Pin Ouyang^a ; ^e ; ^{ouyang@mail.cgu.edu.tw" class="auth_mail" title="E-mail the corresponding author}

关键词：pNO40 ; Knockout mice ; Mesenchymal stem cells ; Aging ; Osteogenesis

刊名：Biochemical and Biophysical Research Communications

出版年：2016

6.Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial

作者：Budd A. Tucker^a ; Cathryn M. Cranston^a ; Kristin A. Anfinson^a ; Suruchi Shrestha^a ; Luan M. Streb^a ; Alejandro Leon^b ; Robert F. Mullins^a ; Edwin M. Stone^a ; ^c ; ^{edwin-stone@uiowa.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Best1 ; Bestrophin1 ; bFGF ; basic fibroblast growth factor ; DMEM ; Dulbecco's Modified Eagle Medium ; DNMT ; DNA methyltransferases ; ERG ; Electroretinography ; KLF4 ; Kruppel-like factor 4 ; LB ; Lysogeny broth ; LCA ; Leber congenital amaurosis ; MEM ; minimum essential medium ; NEAA ; non-essential amino acids ; MITF ; Microphthalmia-Associated Transcription Factor ; MOI ; multiplicity of infection ; RPE ; Retinal pigment epithelium ; RPE65 ; Retinal pigment epithelium&ndash ; specific 65 kDa ; SOX2 ; SRY (sex determini

刊名：Translational Research

出版年：2015

7.A novel FOXP1-PDGFRA fusion gene in myeloproliferative neoplasm with eosinophilia

作者：Yuka Sugimoto^a ; ¹ ; ^{yuka2@clin.medic.mie-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Akiko Sada^b ; ¹ ; Yuji Shimokariya^c ; Fumihiko Monma^a ; Kohshi Ohishi^d ; Masahiro Masuya^a ; Tsutomu Nobori^c ; Toshimitsu Matsui^e ; Naoyuki Katayama^a ; ^{n-kata@clin.medic.mie-u.ac.jp" class="auth_mail" title="E-mail the corresponding author}

关键词：Myeloproliferative neoplasm with eosinophilia ; FOXP1-PDGFRA ; imatinib

刊名：Cancer Genetics

出版年：2015

8.The 5鈥?UTR of DDB2 harbors an IRES element and upregulates translation during stress conditions

作者：Wenyan Dai ; Wennan Ma ; Qi Li ; Yifen Tao ; Pengpeng Ding ; Ruiyu Zhu ; ^{ry_zhu@sina.com" class="auth_mail" title="E-mail the corresponding author} ; Jian Jin ; ^{jinjian31@hotmail.com" class="auth_mail" title="E-mail the corresponding author}

关键词：BSA ; bovine serum albumin ; 螖 ; deletion ; DDB2 ; damage-specific DNA binding protein 2 ; EtdBr ; ethidium bromide ; kDa ; kilodalton(s) ; La ; laminin ; beta 1 ; oligo ; oligodeoxyribonucleotide ; p ; plasmid ; PAGE ; PA-gel electrophoresis ; SDS ; sodium dodecyl sulfate ; UTR ; unstranslated region(s) ; UV ; ultraviolet ; IRES ; internal ribosome entry segment

刊名：Gene

出版年：2015

9.Identification of Novel Alternative Splicing Events in the Huntingtin Gene and Assessment of the Functional Consequences Using Structural Protein Homology Modelling

作者：Alis C. Hughes¹ ; ^{HughesAC@cardiff.ac.uk" class="auth_mail} ; Matthew Mort² ; ^{MortM@cardiff.ac.uk" class="auth_mail} ; Lyn Elliston¹ ; ^{EllistonLA@cardiff.ac.uk" class="auth_mail} ; Rhian M. Thomas¹ ; ^{ThomasRM5@cardiff.ac.uk" class="auth_mail} ; Simon P. Brooks³ ; ^{BrooksSP@cardiff.ac.uk" class="auth_mail} ; Stephen B. Dunnett³ ; ^{DunnettSB@cardiff.ac.uk" class="auth_mail} ; Lesley Jones¹ ; ^{JonesL1@cardiff.ac.uk" class="auth_mail}

关键词：HD ; Huntington's disease ; UTR ; untranslated region ; PTC ; premature termination codon ; qPCR ; quantitative PCR ; 3D ; three-dimensional ; PDB ; Protein Data Bank ; GO ; Gene Ontology ; TNPO1 ; Transportin 1 ; MSA ; multiple sequence alignment

刊名：Journal of Molecular Biology

出版年：3 April, 2014

10.Interpretation, Stratification and Evidence for Sequence Variants Affecting mRNA Splicing in Complete Human Genome Sequences

作者：Ben C. Shirley¹ ; Eliseos J. Mucaki² ; Tyson Whitehead³ ; Paul I. Costea⁴ ; Pelin Akan⁴ ; Peter K. Rogan¹ ; ² ; ⁵ ; ^{progan@uwo.ca}

关键词：Mutation ; mRNA splicing ; Information theory ; Next-generation sequencing ; Genome interpretation

刊名：Genomics, Proteomics Bioinformatics

出版年：2013

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