Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency
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Title
Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency
Authors
Keywords
Idiopathic Pulmonary Fibrosis, Telomere Length, Short Telomere, Telomere Maintenance, Telomere Repeat Amplification Protocol
Journal
BMC GENOMICS
Volume 17, Issue S9, Pages -
Publisher
Springer Nature
Online
2016-10-17
DOI
10.1186/s12864-016-3093-4
References
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Related references
Note: Only part of the references are listed.- Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening
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- Telomeropathies: An emerging spectrum disorder
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- Quantitative telomerase enzyme activity determination using droplet digital PCR with single cell resolution
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- Primordial Dwarfism Gene Maintains Lin28 Expression to Safeguard Embryonic Stem Cells from Premature Differentiation
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- Cell cycle gene-specific control of transcription has a critical role in proliferation of primordial germ cells
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- Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism
- (2012) Anas M. Alazami et al. HUMAN MUTATION
- Substantial variation in qPCR measured mean blood telomere lengths in young men from eleven European countries
- (2011) Dan T.A. Eisenberg et al. AMERICAN JOURNAL OF HUMAN BIOLOGY
- Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase
- (2011) E. M. Parry et al. BLOOD
- The load of short telomeres, estimated by a new method, Universal STELA, correlates with number of senescent cells
- (2010) Laila Bendix et al. AGING CELL
- Telomere length is inherited with resetting of the telomere set-point
- (2010) Y. J. Chiang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A genome-wide screen for essential yeast genes that affect telomere length maintenance
- (2009) L. Ungar et al. NUCLEIC ACIDS RESEARCH
- 7SK snRNP/P-TEFb couples transcription elongation with alternative splicing and is essential for vertebrate development
- (2009) M. Barboric et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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