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在“Elsevier电子期刊”中，命中：1,619条，耗时：0.0189921 秒

在所有数据库中总计命中：5,020条

1.Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

作者：Francesco Calì ; ^a ; ^{cali@oasi.en.it} ; Valeria Chiavetta^a ; Giuseppa Ruggeri^a ; Maria Piccione^b ; Angelo Selicorni^c ; ^d ; Daniela Palazzo^b ; Maria Bonsignore^e ; Anna Cereda^f ; Maurizio Elia^g ; Pinella Failla^g ; Maria Grazia Figura^g ; Agata Fiumara^h ; Silvia Maitz^c ; Giuseppa Maria Luana Mandarà ; ⁱ ; Teresa Mattina^h ; Alda Ragalmuto^a ; Corrado Romano^g ; Martino Ruggieri^h ; Roberto Salluzzo^a ; Antonino Saporoso^e ; Carmelo Schepis^g ; Giovanni Sorge^h ; Maria Spanò ; ^e ; Gaetano Tortorella^e ; Valentino Romano^j

关键词：Neurofibromatosis type 1 ; Legius's syndrome ; Next generation sequencing ; Mosaicism

刊名：European Journal of Medical Genetics

出版年：2017

2.Cell wall synthesis and central carbohydrate metabolism are interconnected by the SNF1/Mig1 pathway in Kluyveromyces lactis

作者：Dorthe Rippert^a ; Katja Backhaus^a ; Rosaura Rodicio^b ; Jü ; rgen J. Heinisch^a ; ^{heinisch@biologie.uni-osnabrueck.de}

关键词：Milk yeast ; Cell wall integrity ; Carbohydrate signaling ; Glycolysis

刊名：European Journal of Cell Biology

出版年：2017

3.Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data

作者：Fernando M.A. Giuffrida^a ; ^b ; ^{fernando.giuffrida@me.com} ; Regina S. Moises^b ; Leticia S. Weinert^c ; Luis E. Calliari^d ; Thais Della Manna^e ; Renata P. Dotto^b ; Luciana F. Franco^b ; Lilian A. Caetano^f ; Milena G. Teles^f ; Renata Andrade Lima^g ; Cré ; sio Alves^g ; Sergio A. Dib^b ; Sandra P. Silveiro^c ; Magnus R. Dias-da-Silva^b ; Andre F. Reis^b ; ^{afreis2005@gmail.com} ; on behalf of the Brazilian Monogenic Diabetes Study Group (BRASMOD)¹

关键词：MODY ; Diabetes mellitus ; HNF1A ; Glucokinase ; Monogenic diabetes

刊名：Diabetes Research and Clinical Practice

出版年：2017

4.Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1: Multidisciplinary Recommendations for Care

作者：Robert A. Avery ; DO ; MSCE¹ ; ² ; ³ ; ⁵ ; ⁶ ; ^{averyr@email.chop.edu} ; James A. Katowitz ; MD⁶ ; Michael J. Fisher ; MD⁷ ; Gena Heidary ; MD ; PhD⁸ ; Eva Dombi ; MD⁹ ; Roger J. Packer ; MD¹ ; ² ; ⁴ ; ⁵ ; Brigitte C. Widemann ; MD⁹ ; on behalf of the OPPN Working GroupKelly A. Hutcheson ; MD ; William P. Madigan ; MD ; Robert Listernick ; MD ; Grant T. Liu ; MD ; Jerry E. Berland ; MD ; Edmond J. FitzGibbon ; MD ; Bruce R. Korf ; MD ; PhD

关键词：FDA ; Food and Drug Administration ; MEK ; mitogen-activated protein kinase kinase ; MRI ; magnetic resonance imaging ; NF1 ; neurofibromatosis type 1 ; OPPN ; orbital-periorbital plexiform neurofibroma ; PN ; plexiform neurofibroma ; TTP ; time to progression

刊名：Ophthalmology

出版年：2017

5.Genetic inhibition of Anaplastic Lymphoma Kinase rescues cognitive impairments in Neurofibromatosis 1 mutant mice

作者：Joseph B. Weiss^a ; Sydney J. Weber^b ; Eileen Ruth S. Torres^b ; Tessa Marzulla^b ; Jacob Raber^b ; ^c ; ^{raberj@ohsu.edu}

关键词：Alk ; NF1 ; Hippocampus ; Cognition ; Neurofibromatosis

刊名：Behavioural Brain Research

出版年：2017

6.Structural and calorimetric studies demonstrate that the hepatocyte nuclear factor 1β (HNF1β) transcription factor is imported into the nucleus via a monopartite NLS sequence

作者：Mareike M. Wiedmann^a ; ^b ; Shintaro Aibara^c ; David R. Spring^a ; Murray Stewart^c ; ^{ms@mrc-lmb.cam.ac.uk" class="auth_mail" title="E-mail the corresponding author} ; James D. Brenton^b

关键词：CCC ; ovarian clear cell carcinoma ; HNF1β ; hepatocyte nuclear factor 1β ; HNF1βDBD ; HNF1β DNA binding domain ; NLS ; nuclear localization signal ; IBB ; Importin-β-binding domain ; mImportin-α ; mouse Importin-α ; xImportin-α ; Xenopus Importin-α ; GST ; glutathione S-transferase

刊名：Journal of Structural Biology

出版年：2016

7.Restoration of the serum level of SERPINF1 does not correct the bone phenotype in Serpinf1 null mice

作者：Abbhirami Rajagopal^a ; Erica P. Homan^a ; ¹ ; Kyu sang Joeng^a ; Masataka Suzuki^b ; Terry Bertin^a ; Racel Cela^a ; Elda Munivez^a ; Brian Dawson^a ; Ming-Ming Jiang^a ; Frank Gannon^c ; Susan Crawford^d ; Brendan H. Lee^a ; ^{blee@bcm.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：PEDF ; SerpinF1 ; Gene transfer ; Osteogenesis imperfecta ; Helper-dependent adenovirus

刊名：Molecular Genetics and Metabolism

出版年：2016

8.Unexpected finding of a whole HNF1B gene deletion during the screening of rare MODY types in a series of Brazilian patients negative for GCK and HNF1A mutations

作者：Renata P. Dotto^a ; ¹ ; Fernando M.A. Giuffrida^b ; ¹ ; Luciana Franco^a ; Andreia L.G. Mathez^a ; Leticia S. Weinert^c ; Sandra P. Silveiro^c ; Joao R. Sa^d ; Andre F. Reis^a ; ^{afreis2005@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Magnus R. Dias-da-Silva^a

关键词：MODY ; Diabetes mellitus ; MLPA ; HNF1B ; Mutation

刊名：Diabetes Research and Clinical Practice

出版年：2016

9.Inappropriate translation inhibition and P-body formation cause cold-sensitivity in tryptophan-auxotroph yeast mutants

作者：Lidia Ballester-Tomá ; s^a ; Jose A. Prieto^a ; Paula Alepuz^b ; Asier Gonzá ; lez^c ; Elena Garre^a ; ¹ ; Francisca Randez-Gil^a ; ^{randez@iata.csic.es}

关键词：Yeast ; Low temperature ; Polysomes ; Gcn2 pathway ; eIF2α ; Hog1 ; Snf1

刊名：Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

出版年：2017

10.De novo transcriptome analysis reveals insights into different mechanisms of growth and immunity in a Chinese soft-shelled turtle hybrid and the parental varieties

作者：Haiqi Zhang^a ; ^b ; ^{zmk407@126.com} ; Xiaojun Xu^b ; ^{24587980@qq.com} ; Zhongyang He^b ; ^{zjscxpz@126.com} ; Tianlun Zheng^b ; ^{tlzheng@126.com} ; Jianzhong Shao^a ; ^{shaojz@zju.edu.cn}

关键词：AGBL2 ; ATP/GTP binding protein-like 2 ; BMPR1A ; Bone morphogenetic protein receptor ; type 1A ; CLEC3B ; C-type lectin domain family 3 ; C1QTNF1 ; C1q and tumor necrosis factor related protein1 ; DDAH1 ; Dimethylarginine dimethylaminohydrolase 1 ; DEGs ; Differentially expressed genes ; DHA ; Docosahexaenoic acid ; ECSIT ; Evolutionary conserved signaling intermediate in Toll pathway ; EPA ; Eicosapentaenoic acid ; GABRG2 ; Gamma-aminobutyric acid A receptor ; GDA ; Guanine deaminase ; GH ; Growth hormone ; GHITM ; Gro

刊名：Gene

出版年：2017

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