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在“Elsevier电子期刊”中，命中：1,534条，耗时：0.0149949 秒

在所有数据库中总计命中：2,448条

1.Therapeutic benefit observed with the CFTR potentiator, ivacaftor, in a CF patient homozygous for the W1282X CFTR nonsense mutation

作者：Venkateshwar Mutyam^a ; Emily Falk Libby^d ; Ning Peng^a ; Denis Hadjiliadis^e ; Michael Bonk^e ; George M. Solomon^a ; ^d ; Steven M. Rowe^a ; ^b ; ^c ; ^d ; ^{smrowe@uab.edu}

关键词：PTC mutations ; W1282X ; CFTR potentiator ; Ivacaftor ; Readthrough

刊名：Journal of Cystic Fibrosis

出版年：2017

2.Somatic mutations in cancer: Stochastic versus predictable

作者：Barry Gold ^{goldbi@pitt.edu}

关键词：Somatic mutations ; Cancer ; DNA methylation ; Deamination

刊名：Mutation Research/Genetic Toxicology and Environmental Mutagenesis

出版年：2017

3.Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency

作者：Nurgun Kandemir^a ; ^{nurgun.kandemir@gmail.com} ; ^{nkandemi@hacettepe.edu.tr} ; Didem Yucel Yilmaz^b ; E.Nazli Gonc^a ; Alev Ozon^a ; Ayfer Alikasifoglu^a ; Ali Dursun^b ; R.Koksal Ozgul^b

关键词：Congenital adrenal hyperplasia ; CYP11B1 ; 11beta-hydroxylase deficiency ; CYP11B1 novel mutations

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

4.A novel TECTA mutation causes ARNSHL

作者：Samira Asgharzade^a ; ^e ; Mohammad Amin Tabatabaiefar^b ; Mohammad Hossein Modarressi^a ; Mohammad Hossein Ghahremani^a ; Somayeh Reiisi^c ; Parisa Tahmasebi^d ; Fatemeh Abdollahnejad^d ; Morteza Hashemzadeh Chaleshtori^e ; ^{mchalesh@yahoo.com}

关键词：TECTA ; Hearing loss ; Linkage analysis ; Mutation ; Iran

刊名：International Journal of Pediatric Otorhinolaryngology

出版年：2017

5.Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

作者：Frederike Leonie Harms¹ ; ²³ ; Katta M. Girisha² ; ²³ ; Andrew A. Hardigan³ ; ⁴ ; ²³ ; Fanny Kortü ; m¹ ; Anju Shukla² ; Malik Alawi⁵ ; ⁶ ; ⁷ ; Ashwin Dalal⁸ ; Lauren Brady⁹ ; Mark Tarnopolsky⁹ ; Lynne M. Bird¹⁰ ; ¹¹ ; Sophia Ceulemans¹¹ ; Martina Bebin¹² ; Kevin M. Bowling³ ; Susan M. Hiatt³ ; Edward J. Lose¹³ ; Michelle Primiano¹⁴ ; Wendy K. Chung¹⁴ ; Jane Juusola¹⁵ ; Zeynep C. Akdemir¹⁶ ; Matthew Bainbridge¹⁷ ; Wu-Lin Charng¹⁶ ; Margaret Drummond-Borg¹⁸ ; Mohammad K. Eldomery¹⁶ ; Ayman W. El-Hattab¹⁹ ; Mohammed A.M. Saleh²⁰ ; Sté ; phane Bé ; zieau²¹ ; Benjamin Cogné ; ²¹ ; Bertrand Isidor²¹ ; ²² ; Sé ; bastien Kü ; ry²¹ ; James R. Lupski¹⁶ ; Richard M. Myers³ ; Gregory M. Cooper³ ; ^{gcooper@hudsonalpha.org} ; Kerstin Kutsche¹ ; ^{kkutsche@uke.de}

关键词：EBF3 ; transcription factor ; intellectual disability ; developmental delay ; de novo mutation ; gene regulation

刊名：The American Journal of Human Genetics

出版年：2017

6.Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy

作者：Satoko Miyatake¹ ; ² ; ¹³ ; Satomi Mitsuhashi³ ; ⁴ ; ⁵ ; ¹³ ; Yukiko K. Hayashi³ ; ⁶ ; Enkhsaikhan Purevjav⁷ ; Atsuko Nishikawa³ ; ⁸ ; Eriko Koshimizu¹ ; Mikiya Suzuki⁹ ; Kana Yatabe⁹ ; Yuzo Tanaka⁹ ; Katsuhisa Ogata⁹ ; Satoshi Kuru¹⁰ ; Masaaki Shiina¹¹ ; Yoshinori Tsurusaki¹ ; Mitsuko Nakashima¹ ; Takeshi Mizuguchi¹ ; Noriko Miyake¹ ; Hirotomo Saitsu¹ ; ¹² ; Kazuhiro Ogata¹¹ ; Mitsuru Kawai⁹ ; ¹⁴ ; Jeffrey Towbin⁷ ; Ikuya Nonaka³ ; Ichizo Nishino³ ; Naomichi Matsumoto¹ ; ^{naomat@yokohama-cu.ac.jp}

关键词：whole-exome sequencing ; nemaline myopathy ; congenital myopathy ; intranuclear rod myopathy ; MYPN

刊名：The American Journal of Human Genetics

出版年：2017

7.Nonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay

作者：Ramon Roman-Sanchez^a ; ^b ; Theodore G. Wensel^a ; ^b ; John H. Wilson^a ; ^b ; ^{jwilson@bcm.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Retinitis pigmentosa ; Rhodopsin ; Nonsense mutations ; Nonsense-mediated decay ; Patterns of inheritance

刊名：Experimental Eye Research

出版年：2016

8.Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes

作者：Sabina Pena B. Pê ; go ; DDS ; PhD^a ; ^{sabinapego@yahoo.com.br} ; Ricardo D. Coletta ; DDS ; PhD^b ; Simona Dumitriu ; MD ; PhD^c ; Daniela Iancu ; MD ; PhD^c ; Saleh Albanyan ; MD^c ; Robert Kleta ; MD ; PhD^c ; Maria Teresa Auricchio ; PhD^d ; Luis Antô ; nio Santos ; DDS ; PhD^a ; Breno Rocha ; DDS^a ; Hercí ; lio Martelli-Jú ; nior ; DDS ; PhD^a

刊名：Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

出版年：2017

9.Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

作者：Dong-chuan Guo¹ ; ¹³ ; Xue-Yan Duan¹ ; ¹³ ; Ellen S. Regalado¹ ; Lauren Mellor-Crummey¹ ; Callie S. Kwartler¹ ; Dong Kim² ; Kenneth Lieberman³ ; Bert B.A. de Vries⁴ ; Rolph Pfundt⁴ ; Albert Schinzel⁵ ; Dieter Kotzot⁶ ; Xuetong Shen⁷ ; Min-Lee Yang⁸ ; University of Washington Center for Mendelian Genomics

刊名：The American Journal of Human Genetics

出版年：2017

10.MiR-128 and miR-125 regulate expression of coagulation Factor IX gene with nonsense mutation by repressing nonsense-mediated mRNA decay

作者：Gang Wang^a ; Baofeng Chai^b ; ^{bfchai@sxu.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Linhua Yang^a ; ^{yanglh5282@163.com" class="auth_mail" title="E-mail the corresponding author}

关键词：MicroRNA ; Hemophilia ; Factor IX ; Nonsense mutation ; NMD

刊名：Biomedicine & Pharmacotherapy

出版年：2016

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