Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders
出版年份 2013 全文链接
标题
Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders
作者
关键词
-
出版物
Expert Review of Hematology
Volume 6, Issue 3, Pages 327-337
出版商
Informa UK Limited
发表日期
2013-06-20
DOI
10.1586/ehm.13.23
参考文献
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。- Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita
- (2013) Amanda J. Walne et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita
- (2013) Bari J. Ballew et al. HUMAN GENETICS
- Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita
- (2012) Marjolijn C.J. Jongmans et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in CTC1 , Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts
- (2012) Anne Polvi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Human telomere disease due to disruption of the CCAAT box of the TERC promoter
- (2012) A. M. Aalbers et al. BLOOD
- RTEL1 Dismantles T Loops and Counteracts Telomeric G4-DNA to Maintain Telomere Integrity
- (2012) Jean-Baptiste Vannier et al. CELL
- Mutations in the telomere capping complex in bone marrow failure and related syndromes
- (2012) A. J. Walne et al. HAEMATOLOGICA
- RTEL1 contributes to DNA replication and repair and telomere maintenance
- (2012) Evert-Jan Uringa et al. MOLECULAR BIOLOGY OF THE CELL
- Connecting complex disorders through biology
- (2012) Sharon A Savage NATURE GENETICS
- Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
- (2012) Beverley H Anderson et al. NATURE GENETICS
- CTC1 Mutations in a patient with dyskeratosis congenita
- (2012) Rachel B. Keller et al. PEDIATRIC BLOOD & CANCER
- Neuropsychiatric Conditions Among Patients with Dyskeratosis Congenita: A Link with Telomere Biology?
- (2012) Sandra Rackley et al. PSYCHOSOMATICS
- Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita
- (2011) F. Zhong et al. GENES & DEVELOPMENT
- A role for heterochromatin protein 1 at human telomeres
- (2011) S. Canudas et al. GENES & DEVELOPMENT
- Telomere length is associated with disease severity and declines with age in dyskeratosis congenita
- (2011) B. P. Alter et al. HAEMATOLOGICA
- Dyskeratosis congenita as a disorder of telomere maintenance
- (2011) Nya D. Nelson et al. MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
- Differences in Disease Severity but Similar Telomere Lengths in Genetic Subgroups of Patients with Telomerase and Shelterin Mutations
- (2011) Tom J. Vulliamy et al. PLoS One
- Reduced-Intensity Conditioning Using Fludarabine and Antithymocyte Globulin Alone Allows Stable Engraftment in a Patient with Dyskeratosis Congenita
- (2010) L.G. Vuong et al. ACTA HAEMATOLOGICA
- Pathophysiology and management of inherited bone marrow failure syndromes
- (2010) Akiko Shimamura et al. BLOOD REVIEWS
- Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita
- (2010) A C Dietz et al. BONE MARROW TRANSPLANTATION
- The genetics and clinical manifestations of telomere biology disorders
- (2010) Sharon A. Savage et al. GENETICS IN MEDICINE
- Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome
- (2010) Amanda J. Walne et al. HUMAN MOLECULAR GENETICS
- Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome
- (2010) F. Touzot et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Syndromes of Telomere Shortening
- (2009) Mary Armanios Annual Review of Genomics and Human Genetics
- Cancer in dyskeratosis congenita
- (2009) B. P. Alter et al. BLOOD
- Dyskeratosis Congenita
- (2009) Sharon A. Savage et al. HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
- Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs
- (2009) C. Trahan et al. HUMAN MOLECULAR GENETICS
- The Box H/ACA Ribonucleoprotein Complex: Interplay of RNA and Protein Structures in Post-transcriptional RNA Modification
- (2009) Tomoko Hamma et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Ocular and Orbital Manifestations of the Inherited Bone Marrow Failure Syndromes: Fanconi Anemia and Dyskeratosis Congenita
- (2009) Ekaterini T. Tsilou et al. OPHTHALMOLOGY
- Dyskeratosis congenita: The first NIH clinical research workshop
- (2009) Sharon A. Savage et al. PEDIATRIC BLOOD & CANCER
- A Spectrum of Severe Familial Liver Disorders Associate with Telomerase Mutations
- (2009) Rodrigo T. Calado et al. PLoS One
- SHQ1 is required prior to NAF1 for assembly of H/ACA small nucleolar and telomerase RNPs
- (2009) P. N. Grozdanov et al. RNA
- A Human Telomerase Holoenzyme Protein Required for Cajal Body Localization and Telomere Synthesis
- (2009) A. S. Venteicher et al. SCIENCE
- TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita
- (2008) Sharon A. Savage et al. AMERICAN JOURNAL OF HUMAN GENETICS
- All in the family: Disclosure of “unwanted” information to an adolescent to benefit a relative
- (2008) Colleen C. Denny et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
- (2008) A. J. Walne et al. BLOOD
- Identification of ATPases Pontin and Reptin as Telomerase Components Essential for Holoenzyme Assembly
- (2008) Andrew S. Venteicher et al. CELL
- Short telomeres are a risk factor for idiopathic pulmonary fibrosis
- (2008) J. K. Alder et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Oral and dental phenotype of dyskeratosis congenita
- (2007) JC Atkinson et al. ORAL DISEASES
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now