相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。DKC1 is a transcriptional target of GATA1 and drives upregulation of telomerase activity in normal human erythroblasts
Laura A. Richards et al.
HAEMATOLOGICA (2020)
Association of clinical severity with FANCB variant type in Fanconi anemia
Moonjung Jung et al.
BLOOD (2020)
Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions
Jana Volejnikova et al.
BLOOD CELLS MOLECULES AND DISEASES (2020)
Efficacy and safety of ataluren in patients with nonsense-mutation cystic fibrosis not receiving chronic inhaled aminoglycosides: The international, randomized, double-blind, placebo-controlled Ataluren Confirmatory Trial in Cystic Fibrosis (ACT CF)
M. W. Konstan et al.
JOURNAL OF CYSTIC FIBROSIS (2020)
Screening Readthrough Compounds to Suppress Nonsense Mutations: Possible Application to β-Thalassemia
Monica Borgatti et al.
JOURNAL OF CLINICAL MEDICINE (2020)
Nonsense suppression induced readthrough of a novel PAX6 mutation in patient-derived cells of congenital aniridia
Xiaoliang Liu et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2020)
Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study
Eugenio Mercuri et al.
JOURNAL OF COMPARATIVE EFFECTIVENESS RESEARCH (2020)
ELX-02 Generates Protein via Premature Stop Codon Read-Through without Inducing Native Stop Codon Read-Through Proteins
Daniel K. Crawford et al.
JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS (2020)
Ataluren/ivacaftor combination therapy: Two N-of-1 trials in cystic fibrosis patients with nonsense mutations
Jacelyn E. Peabody Lever et al.
PEDIATRIC PULMONOLOGY (2020)
CRISPR/Cas9-mediated ELANE knockout enables neutrophilic maturation of primary hematopoietic stem and progenitor cells and induced pluripotent stem cells o severe congenital neutropenia patients
Masoud Nasri et al.
HAEMATOLOGICA (2020)
A homozygous FANCM frameshift pathogenic variant causes male infertility
Hao Yin et al.
GENETICS IN MEDICINE (2019)
Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics
Hajrah Sarkar et al.
HUMAN MOLECULAR GENETICS (2019)
Deciphering the Nonsense Readthrough Mechanism of Action of Ataluren: An in Silico Compared Study
Marco Tutone et al.
ACS MEDICINAL CHEMISTRY LETTERS (2019)
Engineered transfer RNAs for suppression of premature termination codons
John D. Lueck et al.
NATURE COMMUNICATIONS (2019)
Ataluren Pharmacokinetics in Healthy Japanese and Caucasian Subjects
Ronald Kong et al.
CLINICAL PHARMACOLOGY IN DRUG DEVELOPMENT (2019)
Quality and quantity control of gene expression by nonsense-mediated mRNA decay
Tatsuaki Kurosaki et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2019)
Telomerase insufficiency induced telomere erosion accumulation in successive generations in dyskeratosis congenita family
Caixia He et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2019)
EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome
Shengjiang Tan et al.
BLOOD (2019)
Strategies against Nonsense: Oxadiazoles as Translational Readthrough-Inducing Drugs (TRIDs)
Ambra Campofelice et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry
Deniz Yilmaz Karapinar et al.
PEDIATRIC BLOOD & CANCER (2019)
Aminoglycoside drugs induce efficient read-through of CDKL5 nonsense mutations, slightly restoring its kinase activity
Maria Fazzari et al.
RNA BIOLOGY (2019)
Prevalence of nonfounder BRCA1/2 mutations in Ashkenazi Jewish patients presenting for genetic testing at a hereditary breast and ovarian cancer center
Melissa K. Frey et al.
CANCER (2019)
Mechanisms of leukemic transformation in congenital neutropenia
Daniel C. Link
CURRENT OPINION IN HEMATOLOGY (2019)
Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives
Valentino Bezzerri et al.
MOLECULAR DIAGNOSIS & THERAPY (2019)
The Genetic Landscape of Diamond-Blackfan Anemia (vol 103, pg 930, 2018)
Jacob C. Ulirsch et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Nonsense-mediated RNA Decay Pathway Inhibition Restores Expression and Function of W1282X CFTR
Melissa M. Keenan et al.
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2019)
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels
Supanun Lauhasurayotin et al.
NPJ GENOMIC MEDICINE (2019)
Safety, Tolerability, and Pharmacokinetics of Single Ascending Doses of ELX-02, a Potential Treatment for Genetic Disorders Caused by Nonsense Mutations, in Healthy Volunteers
Andi Leubitz et al.
CLINICAL PHARMACOLOGY IN DRUG DEVELOPMENT (2019)
Caffeine boosts Ataluren's readthrough activity
Laura Lentini et al.
HELIYON (2019)
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia
Roberta Bottega et al.
HAEMATOLOGICA (2018)
Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up
Blanche P. Alter et al.
HAEMATOLOGICA (2018)
Aminoglycoside-mediated promotion of translation readthrough occurs through a non-stochastic mechanism that competes with translation termination
H. M. Chowdhury et al.
HUMAN MOLECULAR GENETICS (2018)
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families
Danielle C. Kimble et al.
HUMAN MUTATION (2018)
ClinVar: improving access to variant interpretations and supporting evidence
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2018)
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia
Roberta Bottega et al.
HAEMATOLOGICA (2018)
Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up
Blanche P. Alter et al.
HAEMATOLOGICA (2018)
Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells
Valentino Bezzerri et al.
AMERICAN JOURNAL OF HEMATOLOGY (2018)
Readthrough of ACTN3 577X nonsense mutation produces full-length α-actinin-3 protein
Nagakatsu Harada et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2018)
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders
Anna Norberg et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
Evaluation and Management of Hematopoietic Failure in Dyskeratosis Congenita
Suneet Agarwal
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA (2018)
Diagnosis, Treatment, and Molecular Pathology of Shwachman-Diamond Syndrome
Adam S. Nelson et al.
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA (2018)
Myelodysplastic Syndrome, Acute Myeloid Leukemia, and Cancer Surveillance in Fanconi Anemia
Sharon A. Savage et al.
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA (2018)
Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons
Maciej Dabrowski et al.
MOLECULAR MEDICINE (2018)
Implementing Keytruda/Pembrolizumab Testing in Clinical Practice
Dmitry Ratner et al.
ONCOLOGIST (2018)
Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa
Vadim Lincoln et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia
Kyaw Ze Ya Maung et al.
BLOOD CANCER JOURNAL (2018)
Increased risk of colon cancer and osteogenic sarcoma in Diamond-Blackfan anemia
Adrianna Vlachos et al.
BLOOD (2018)
Rescuing the CFTR protein function: Introducing 1,3,4-oxadiazoles as translational readthrough inducing drugs
Ivana Pibiri et al.
EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY (2018)
Off-Label Use of Ataluren in Four Non-ambulatory Patients With Nonsense Mutation Duchenne Muscular Dystrophy: Effects on Cardiac and Pulmonary Function and Muscle Strength
Daniel Ebrahimi-Fakhari et al.
FRONTIERS IN PEDIATRICS (2018)
Clinical, Laboratory, and Molecular Characteristics and Remission Status in Children With Severe Congenital and Non-congenital Neutropenia
Ruo-Lan Gong et al.
FRONTIERS IN PEDIATRICS (2018)
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer
Nana Weber-Lassalle et al.
BREAST CANCER RESEARCH (2018)
Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons
Iwona Pranke et al.
ERJ OPEN RESEARCH (2018)
Ataluren in cystic fibrosis: development, clinical studies and where are we now?
Noreen Zainal Abidin et al.
EXPERT OPINION ON PHARMACOTHERAPY (2017)
CRISPR/Cas9-Mediated Correction of the FANCD1 Gene in Primary Patient Cells
Karolina Skvarova Kramarzova et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2017)
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features
Raphael Carapito et al.
JOURNAL OF CLINICAL INVESTIGATION (2017)
Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa
Velina S. Atanasova et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2017)
Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in a Shwachman-Diamond like syndrome
Polina Stepensky et al.
JOURNAL OF MEDICAL GENETICS (2017)
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation
Lisa Mirabello et al.
JOURNAL OF MEDICAL GENETICS (2017)
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
Craig M. McDonald et al.
LANCET (2017)
Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation
R. C. Lindsley et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data
Polyxeni Delaporta et al.
PEDIATRIC BLOOD & CANCER (2017)
Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome
Roberto Valli et al.
PEDIATRIC BLOOD & CANCER (2017)
Aminoglycoside interactions and impacts on the eukaryotic ribosome
Irina Prokhorova et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia
Sharon A. Savage et al.
SEMINARS IN HEMATOLOGY (2017)
Analysis of FANCC gene mutations (IVS4+4A>T, del322G, and R548X) in patients with Fanconi anemia in Pakistan
Iram Aftab et al.
TURKISH JOURNAL OF MEDICAL SCIENCES (2017)
Efficacy of Postnatal In Vivo Nonsense Suppression Therapy in a Pax6 Mouse Model of Aniridia
Xia Wang et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2017)
Clinical and Molecular Heterogeneity of RTEL1 Deficiency
Carsten Speckmann et al.
FRONTIERS IN IMMUNOLOGY (2017)
Severe congenital neutropenias
Julia Skokowa et al.
NATURE REVIEWS DISEASE PRIMERS (2017)
Conservation of Nonsense-Mediated mRNA Decay Complex Components Throughout Eukaryotic Evolution
Barry Causier et al.
SCIENTIFIC REPORTS (2017)
Treatment of inherited bone marrow failure syndromes beyond transplantation
Rodrigo T. Calado et al.
HEMATOLOGY-AMERICAN SOCIETY OF HEMATOLOGY EDUCATION PROGRAM (2017)
Pregnancies in patients with inherited bone marrow failure syndromes in the NCl cohort
Neelam Giri et al.
BLOOD (2017)
Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history
Jean Donadieu et al.
BRITISH JOURNAL OF HAEMATOLOGY (2017)
Assessing the Spectrum of Germline Variation in Fanconi Anemia Genes Among Patients With Head and Neck Carcinoma Before Age 50
Settara C. Chandrasekharappa et al.
CANCER (2017)
Nonsense-mediated mRNA decay at the crossroads of many cellular pathways
Fabrice Lejeune
BMB REPORTS (2017)
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome
Santhosh Dhanraj et al.
BLOOD (2017)
Deletion of ribosomal protein genes is a common vulnerability in human cancer, especially in concert with TP53 mutations
Ram Ajore et al.
EMBO MOLECULAR MEDICINE (2017)
Twenty years of the Italian Fanconi Anemia Registry: where we stand and what remains to be learned
Antonio M. Risitano et al.
HAEMATOLOGICA (2016)
Tissue-specific variation in nonsense mutant transcript level and drug-induced read-through efficiency in the Cln1R151X mouse model of INCL
Vaughn Thada et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2016)
The molecular genetics of the telomere biology disorders
Alison A. Bertuch
RNA BIOLOGY (2016)
Twenty years of the Italian Fanconi Anemia Registry: where we stand and what remains to be learned
Antonio M. Risitano et al.
HAEMATOLOGICA (2016)
Role of CSF3R mutations in the pathomechanism of congenital neutropenia and secondary acute myeloid leukemia
Maksim Klimiankou et al.
HEMATOPOIETIC STEM CELLS IX (2016)
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients
F. Lhota et al.
CLINICAL GENETICS (2016)
Exploring the readthrough of nonsense mutations by non-acidic Ataluren analogues selected by ligand-based virtual screening
Ivana Pibiri et al.
EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY (2016)
Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia
Frank X. Donovan et al.
HUMAN MUTATION (2016)
Novel small molecules potentiate premature termination codon readthrough by aminoglycosides
Alireza Baradaran-Heravi et al.
NUCLEIC ACIDS RESEARCH (2016)
Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression
Bijoyita Roy et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
Rules of UGA-N decoding by near-cognate tRNAs and analysis of readthrough on short uORFs in yeast
Petra Beznoskova et al.
RNA (2016)
CRISPR/Cas9 Targeted Gene Editing and Cellular Engineering in Fanconi Anemia
Mark J. Osborn et al.
STEM CELLS AND DEVELOPMENT (2016)
Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients
Yahya Ghazwani et al.
CANCER GENETICS (2016)
New insights into the Shwachman-Diamond Syndrome-related haematological disorder: hyper-activation of mTOR and STAT3 in leukocytes
Valentino Bezzerri et al.
SCIENTIFIC REPORTS (2016)
Aminoglycosides: An Overview
Kevin M. Krause et al.
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2016)
STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation
Sevil Oskay Halacli et al.
CLINICAL IMMUNOLOGY (2015)
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia
Vahagn Makaryan et al.
CURRENT OPINION IN HEMATOLOGY (2015)
Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome
Angela Mercuri et al.
EUROPEAN JOURNAL OF HAEMATOLOGY (2015)
Enhancement of premature stop codon readthrough in the CFTR gene by Ataluren (PTC124) derivatives
Ivana Pibiri et al.
EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY (2015)
Fanconi Anemia Gene Editing by the CRISPR/Cas9 System
Mark J. Osborn et al.
HUMAN GENE THERAPY (2015)
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer
Susan J. Ramus et al.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2015)
Translational readthrough potential of natural termination codons in eucaryotes - The impact of RNA sequence
Maciej Dabrowski et al.
RNA BIOLOGY (2015)
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer
Susan J. Ramus et al.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2015)
A novel large deletion and single nucleotide insertion in the Wiskott-Aldrich syndrome protein gene
Vera Gulacsy et al.
EUROPEAN JOURNAL OF HAEMATOLOGY (2015)
Diamond-Blackfan Anemia With Mandibulofacial Dystostosis is Heterogeneous, Including the Novel DBA Genes TSR2 and RPS28
Karen W. Gripp et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Synthetic Aminoglycosides Efficiently Suppress Cystic Fibrosis Transmembrane Conductance Regulator Nonsense Mutations and Are Enhanced by Ivacaftor
Xiaojiao Xue et al.
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2014)
Fanconi anemia and the development of leukemia
Blanche P. Alter et al.
BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY (2014)
Targeted gene therapy and cell reprogramming in Fanconi anemia
Paula Rio et al.
EMBO MOLECULAR MEDICINE (2014)
Diverse diseases from a ubiquitous process: The ribosomopathy paradox
Joy Armistead et al.
FEBS LETTERS (2014)
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology
Daniela De Rocco et al.
HAEMATOLOGICA (2014)
TCIRG1-Associated Congenital Neutropenia
Vahagn Makaryan et al.
HUMAN MUTATION (2014)
Comparison of read-through effects of aminoglycosides and PTC124 on rescuing nonsense mutations of HERG gene associated with long QT syndrome
Haiyun Yu et al.
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE (2014)
Toward a Rationale for the PTC124 (Ataluren) Promoted Readthrough of Premature Stop Codons: A Computational Approach and GFP-Reporter Cell-Based Assay
Laura Lentini et al.
MOLECULAR PHARMACEUTICS (2014)
Haematopoietic stem cells require a highly regulated protein synthesis rate
Robert A. J. Signer et al.
NATURE (2014)
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia
Kaan Boztug et al.
NATURE GENETICS (2014)
Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits
Paul L. Auer et al.
NATURE GENETICS (2014)
Altered translation of GATA1 in Diamond-Blackfan anemia
Leif S. Ludwig et al.
NATURE MEDICINE (2014)
Evidence of efficient stop codon readthrough in four mammalian genes
Gary Loughran et al.
NUCLEIC ACIDS RESEARCH (2014)
Clinical Phenotype and Genetic Analysis of RPS19, RPL5, and RPL11 Genes in Greek Patients With Diamond Blackfan Anemia
Polyxeni Delaporta et al.
PEDIATRIC BLOOD & CANCER (2014)
Defects of protein production in erythroid cells revealed in a zebrafish Diamond-Blackfan anemia model for mutation in RPS19
Y. Zhang et al.
CELL DEATH & DISEASE (2014)
Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial
Elton Kerem et al.
LANCET RESPIRATORY MEDICINE (2014)
Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita
Amanda J. Walne et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Ataluren as an Agent for Therapeutic Nonsense Suppression
Stuart W. Peltz et al.
ANNUAL REVIEW OF MEDICINE, VOL 64 (2013)
High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia
Marlene Pasquet et al.
BLOOD (2013)
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia
Settara C. Chandrasekharappa et al.
BLOOD (2013)
The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy
Polina Stepensky et al.
BLOOD (2013)
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia
Gareth Gerrard et al.
BRITISH JOURNAL OF HAEMATOLOGY (2013)
Mutations in the telomere capping complex in bone marrow failure and related syndromes
Amanda J. Walne et al.
HAEMATOLOGICA (2013)
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita
Bari J. Ballew et al.
HUMAN GENETICS (2013)
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis
Jake N. Miller et al.
HUMAN MOLECULAR GENETICS (2013)
Fanconi anaemia and the repair of Watson and Crick DNA crosslinks
Molly C. Kottemann et al.
NATURE (2013)
A Congenital Neutrophil Defect Syndrome Associated with Mutations in VPS45
Thierry Vilboux et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations
Siddharth Banka et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Attenuation of Nonsense-Mediated mRNA Decay Enhances In Vivo Nonsense Suppression
Kim M. Keeling et al.
PLOS ONE (2013)
Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy
Richard S. Finkel et al.
PLOS ONE (2013)
Inhibition of SMG-8, a subunit of SMG-1 kinase, ameliorates nonsense-mediated mRNA decay-exacerbated mutant phenotypes without cytotoxicity
Fusako Usuki et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
A Lack of Premature Termination Codon Read-Through Efficacy of PTC124 (Ataluren) in a Diverse Array of Reporter Assays
Stuart P. McElroy et al.
PLOS BIOLOGY (2013)
Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry
Adrianna Vlachos et al.
BLOOD (2012)
L-leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway
Elspeth M. Payne et al.
BLOOD (2012)
The Czech National Diamond-Blackfan Anemia Registry: Clinical data and ribosomal protein mutations update
Dagmar Pospisilova et al.
BLOOD CELLS MOLECULES AND DISEASES (2012)
Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood
G. S. Sasa et al.
CLINICAL GENETICS (2012)
Suppression of premature termination codons as a therapeutic approach
Kim M. Keeling et al.
CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY (2012)
Exogenously acquired 16S rRNA methyltransferases found in aminoglycoside-resistant pathogenic Gram-negative bacteria: An update
Jun-ichi Wachino et al.
DRUG RESISTANCE UPDATES (2012)
A comparative evaluation of NB30, NB54 and PTC124 in translational read-through efficacy for treatment of an USH1C nonsense mutation
Tobias Goldmann et al.
EMBO MOLECULAR MEDICINE (2012)
Telomere length is associated with disease severity and declines with age in dyskeratosis congenita
Blanche P. Alter et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2012)
Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome
Jean Donadieu et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2012)
Molecular pathogenesis and clinical management of Fanconi anemia
Younghoon Kee et al.
JOURNAL OF CLINICAL INVESTIGATION (2012)
Rescue of nonsense mutations by amlexanox in human cells
Sara Gonzalez-Hilarion et al.
ORPHANET JOURNAL OF RARE DISEASES (2012)
Pharmaceutical therapies to recode nonsense mutations in inherited diseases
Hui-Ling Rose Lee et al.
PHARMACOLOGY & THERAPEUTICS (2012)
X-linked VACTERL With Hydrocephalus Syndrome: Further Delineation of the Phenotype Caused by FANCB Mutations
Joanna McCauley et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome
Yigal Dror et al.
ANNALS MEETING REPORTS (2011)
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations
Maria Castella et al.
BLOOD (2011)
Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation
S. K. Hashmi et al.
CLINICAL GENETICS (2011)
Evidence of abundant stop codon readthrough in Drosophila and other metazoa
Irwin Jungreis et al.
GENOME RESEARCH (2011)
Molecular Basis of BACH1/FANCJ Recognition by TopBP1 in DNA Replication Checkpoint Control
Charles Chung Yun Leung et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations
E. Tsangaris et al.
JOURNAL OF MEDICAL GENETICS (2011)
Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model
Cornelia Brendel et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2011)
Suppression of CFTR premature termination codons and rescue of CFTR protein and function by the synthetic aminoglycoside NB54
Steven M. Rowe et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2011)
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome
Vera Gulacsy et al.
MOLECULAR IMMUNOLOGY (2011)
Ex Vivo Treatment with a Novel Synthetic Aminoglycoside NB54 in Primary Fibroblasts from Rett Syndrome Patients Suppresses MECP2 Nonsense Mutations
Manuela Vecsler et al.
PLOS ONE (2011)
The genetics of dyskeratosis congenita
Philip J. Mason et al.
CANCER GENETICS (2011)
Repairing faulty genes by aminoglycosides: Development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations
Igor Nudelman et al.
BIOORGANIC & MEDICINAL CHEMISTRY (2010)
Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis
David H. McDermott et al.
BLOOD (2010)
Pathophysiology and management of inherited bone marrow failure syndromes
Akiko Shimamura et al.
BLOOD REVIEWS (2010)
Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy
Philip S. Rosenberg et al.
BRITISH JOURNAL OF HAEMATOLOGY (2010)
Aminoglycoside use in cystic fibrosis: therapeutic strategies and toxicity
Andrew Prayle et al.
CURRENT OPINION IN PULMONARY MEDICINE (2010)
Aminoglycoside modifying enzymes
Maria S. Ramirez et al.
DRUG RESISTANCE UPDATES (2010)
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations
Paola Quarello et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2010)
Digenic mutations in severe congenital neutropenia
Manuela Germeshausen et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2010)
The Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database Update
Ilenia Boria et al.
HUMAN MUTATION (2010)
SBDS-deficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane
Ken-ichiro Watanabe et al.
APOPTOSIS (2009)
Subcutaneous administration of TC007 reduces disease severity in an animal model of SMA
Virginia B. Mattis et al.
BMC NEUROSCIENCE (2009)
Severe congenital neutropenia: a negative synergistic effect of multiple mutations of ELANE (ELA2) gene
Marina Lanciotti et al.
BRITISH JOURNAL OF HAEMATOLOGY (2009)
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia
Jun Xia et al.
BRITISH JOURNAL OF HAEMATOLOGY (2009)
The FANC pathway and mitosis A replication legacy
Valeria Naim et al.
CELL CYCLE (2009)
Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model
Virginia B. Mattis et al.
HUMAN MOLECULAR GENETICS (2009)
Identification of Mutations in the Ribosomal Protein L5 (RPL5) and Ribosomal Protein L11 (RPL11) Genes in Czech Patients With Diamond-Blackfan Anemia
Radek Cmejla et al.
HUMAN MUTATION (2009)
Poly-L-aspartic Acid Enhances and Prolongs Gentamicin-mediated Suppression of the CFTR-G542X Mutation in a Cystic Fibrosis Mouse Model
Ming Du et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Development of Novel Aminoglycoside (NB54) with Reduced Toxicity and Enhanced Suppression of Disease-Causing Premature Stop Mutations
Igor Nudelman et al.
JOURNAL OF MEDICINAL CHEMISTRY (2009)
Ela2 Mutations and Clinical Manifestations in Familial Congenital Neutropenia
Masaaki Shiohara et al.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2009)
Fanconi anemia and its diagnosis
Arleen D. Auerbach
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS (2009)
A Syndrome with Congenital Neutropenia and Mutations in G6PC3
Kaan Boztug et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Nonsense suppression activity of PTC124 (ataluren)
Stuart W. Peltz et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients
Hanna T. Gazda et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Abnormalities of the large ribosomal subunit protein, Rp135a, in Diamond-Blackfan anemia
Jason E. Farrar et al.
BLOOD (2008)
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations
Manuela Germeshausen et al.
BLOOD (2008)
Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry
Philip S. Rosenberg et al.
HAEMATOLOGICA (2008)
A New Database for Ribosomal Protein Genes Which Are Mutated in Diamond-Blackfan Anemia
Ilenia Boria et al.
HUMAN MUTATION (2008)
RPS19 mutations in patients with Diamond-Blackfan anemia
Maria Francesca Campagnoli et al.
HUMAN MUTATION (2008)
Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial
Eitan Kerem et al.
LANCET (2008)
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene
N. Ishikawa et al.
JOURNAL OF MEDICAL GENETICS (2008)
Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins
Weidong Wang
NATURE REVIEWS GENETICS (2007)
Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small riblosomal subunit production
Rachel A. Idol et al.
BLOOD CELLS MOLECULES AND DISEASES (2007)
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
Bing Xia et al.
NATURE GENETICS (2007)
Impaired ribosome biogenesis in Diamond-Blackfan anemia
Valerie Choesmel et al.
BLOOD (2007)
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
Christoph Klein et al.
NATURE GENETICS (2007)
Neutrophil elastase in cyclic and severe congenital neutropenia
Marshall S. Horwitz et al.
BLOOD (2007)
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies
E Maserati et al.
GENES CHROMOSOMES & CANCER (2006)
A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain
E Callén et al.
BLOOD (2005)
Molecular insights into aminoglycoside action and resistance
S Magnet et al.
CHEMICAL REVIEWS (2005)
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations
HT Gazda et al.
BRITISH JOURNAL OF HAEMATOLOGY (2004)
Mutations in the ELA2 gene correlate with more severe expression of neutropenia:: a study of 81 patients from the French Neutropenia Register
C Bellanné-Chantelot et al.
BLOOD (2004)
Inhibition of nonsense-mediated mRNA decay rescues the phenotype in Ullrich's disease
F Usuki et al.
ANNALS OF NEUROLOGY (2004)
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia
A Chatr-aryamontri et al.
HUMAN MUTATION (2004)
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2
RE Person et al.
NATURE GENETICS (2003)
Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease
PA Hernandez et al.
NATURE GENETICS (2003)
Severe chronic neutropenia: Treatment and follow-up of patients in the severe chronic neutropenia international registry
DC Dale et al.
AMERICAN JOURNAL OF HEMATOLOGY (2003)
Mutations in SBDS are associated with Shwachman-Diamond syndrome
GRB Boocock et al.
NATURE GENETICS (2003)
Pyranmycins, a novel class of aminoglycosides with improved acid stability: The SAR of D-pyranoses on ring III of pyranmycin
CWT Chang et al.
ORGANIC LETTERS (2002)
Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: A prospective 5-year follow-up study
Y Dror et al.
EXPERIMENTAL HEMATOLOGY (2002)
Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system
KM Keeling et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2002)
Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway
Y Dror et al.
BLOOD (2001)
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7
S Goobie et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
K Devriendt et al.
NATURE GENETICS (2001)
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of α-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation
KM Keeling et al.
HUMAN MOLECULAR GENETICS (2001)
Evidence that phosphorylation of human Upf1 protein varies with intracellular location and is mediated by a wortmannin-sensitive and rapamycin-sensitive PI 3-kinase-related kinase signaling pathway
M Pal et al.
RNA (2001)
Aminoglycosides: Perspectives on mechanisms of action and resistance and strategies to counter resistance
LP Kotra et al.
ANTIMICROBIAL AGENTS AND CHEMOTHERAPY (2000)
Diamond-Blackfan anemia: Report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population
U Ramenghi et al.
BLOOD CELLS MOLECULES AND DISEASES (2000)
Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system
M Manuvakhova et al.
RNA (2000)
Suppression of nonsense mutations in cell culture and mice by multimerized suppressor tRNA genes
M Buvoli et al.
MOLECULAR AND CELLULAR BIOLOGY (2000)
Isochromosome (7)(q10) in Shwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders
E Maserati et al.
CANCER GENETICS AND CYTOGENETICS (2000)
分享论文
