Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies
出版年份 2016 全文链接
标题
Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies
作者
关键词
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出版物
Scientific Reports
Volume 6, Issue 1, Pages -
出版商
Springer Nature
发表日期
2016-05-25
DOI
10.1038/srep26440
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Gnathodiaphyseal dysplasia presenting as polyostotic fibrous dysplasia
- (2015) Jaime Vengoechea et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Familial gigantiform cementoma: distinctive clinical features of a large Chinese pedigree
- (2015) H.W. Wang et al. BRITISH JOURNAL OF ORAL & MAXILLOFACIAL SURGERY
- Anoctamin-6 Controls Bone Mineralization by Activating the Calcium Transporter NCX1
- (2015) Jiraporn Ousingsawat et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- TMEM16 Proteins: Unknown Structure and Confusing Functions
- (2015) Alessandra Picollo et al. JOURNAL OF MOLECULAR BIOLOGY
- Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoforms
- (2015) Paolo Scudieri et al. JOURNAL OF PHYSIOLOGY-LONDON
- Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations
- (2015) Marco Savarese et al. NEUROMUSCULAR DISORDERS
- Homodimeric anoctamin-1, but not homodimeric anoctamin-6, is activated by calcium increases mediated by the P2Y1 and P2X7 receptors
- (2015) Michaela Stolz et al. PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
- Co-expression of Anoctamins in Cilia of Olfactory Sensory Neurons
- (2014) Bastian Henkel et al. CHEMICAL SENSES
- COL1A1C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?
- (2014) A. M. McInerney-Leo et al. CLINICAL GENETICS
- X-ray structure of a calcium-activated TMEM16 lipid scramblase
- (2014) Janine D. Brunner et al. NATURE
- Anoctamin 6 Regulates C2C12 Myoblast Proliferation
- (2014) Piming Zhao et al. PLoS One
- Exome Sequencing from Nanogram Amounts of Starting DNA: Comparing Three Approaches
- (2014) Vera N. Rykalina et al. PLoS One
- ANO5-muscular dystrophy: clinical, pathological and molecular findings
- (2013) T. Liewluck et al. EUROPEAN JOURNAL OF NEUROLOGY
- TMEM16E (GDD1) Exhibits Protein Instability and Distinct Characteristics in Chloride Channel/Pore Forming Ability
- (2013) Ta To Tran et al. JOURNAL OF CELLULAR PHYSIOLOGY
- Ensembl 2014
- (2013) Paul Flicek et al. NUCLEIC ACIDS RESEARCH
- Identification of a dimerization domain in the TMEM16A calcium-activated chloride channel (CaCC)
- (2013) J. Tien et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree
- (2012) Caterina Marconi et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Inactivation of anoctamin-6/Tmem16f, a regulator of phosphatidylserine scrambling in osteoblasts, leads to decreased mineral deposition in skeletal tissues
- (2012) Harald WA Ehlen et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and miyoshi type of muscular dystrophy
- (2012) Joachim Schessl et al. MUSCLE & NERVE
- Physiological roles and diseases of tmem16/anoctamin proteins: are they all chloride channels?
- (2011) Charity Duran et al. ACTA PHARMACOLOGICA SINICA
- Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
- (2010) William McLaren et al. BIOINFORMATICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- TMEM16A(a)/anoctamin-1 Shares a Homodimeric Architecture with CLC Chloride Channels
- (2010) Ghada Fallah et al. MOLECULAR & CELLULAR PROTEOMICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- fpocket: online tools for protein ensemble pocket detection and tracking
- (2010) P. Schmidtke et al. NUCLEIC ACIDS RESEARCH
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Fpocket: An open source platform for ligand pocket detection
- (2009) Vincent Le Guilloux et al. BMC BIOINFORMATICS
- Recurring gnathodiaphyseal dysplasia in two Russian brothers
- (2009) V.V. Roginsky et al. INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY
- Protein structure prediction on the Web: a case study using the Phyre server
- (2009) Lawrence A Kelley et al. Nature Protocols
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Autosomal dominant gigantiform cementoma associated with bone fractures
- (2008) Mohammad Moshref et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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