Animals
Brain
/ enzymology
Carrier Proteins
/ genetics
Cell Line
Cilia
/ genetics
Female
Genetic Linkage
HCT116 Cells
Humans
Idiopathic Pulmonary Fibrosis
/ enzymology
Loss of Function Mutation
Male
Mice
Mice, Knockout
Neurodevelopmental Disorders
/ genetics
Nuclear Proteins
/ genetics
Pedigree
RNA
/ metabolism
RNA Processing, Post-Transcriptional
/ genetics
Telomerase
/ metabolism
Telomere Shortening
/ genetics
RNA processing
ciliopathy
lung disease
nuclear RNA exosome
telomerase RNA
Journal
Genes & development
ISSN: 1549-5477
Titre abrégé: Genes Dev
Pays: United States
ID NLM: 8711660
Informations de publication
Date de publication:
01 10 2019
01 10 2019
Historique:
received:
19
04
2019
accepted:
15
08
2019
pubmed:
7
9
2019
medline:
20
11
2019
entrez:
7
9
2019
Statut:
ppublish
Résumé
Short telomere syndromes manifest as familial idiopathic pulmonary fibrosis; they are the most common premature aging disorders. We used genome-wide linkage to identify heterozygous loss of function of
Identifiants
pubmed: 31488579
pii: gad.326785.119
doi: 10.1101/gad.326785.119
pmc: PMC6771387
doi:
Substances chimiques
Carrier Proteins
0
Nuclear Proteins
0
ZCCHC8 protein, human
0
telomerase RNA
0
RNA
63231-63-0
Telomerase
EC 2.7.7.49
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Langues
eng
Sous-ensembles de citation
IM
Pagination
1381-1396Subventions
Organisme : NIGMS NIH HHS
ID : T32 GM007814
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007309
Pays : United States
Organisme : NHLBI NIH HHS
ID : F32 HL142207
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA006973
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA225027
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL119476
Pays : United States
Organisme : NHLBI NIH HHS
ID : T32 HL007534
Pays : United States
Informations de copyright
© 2019 Gable et al.; Published by Cold Spring Harbor Laboratory Press.
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