Condition: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3


rs201540674 in RTEL1-TNFRSF6B;TNFRSF6B;RTEL1 gene and PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 PMID 24009516 2013 A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

PMID 25620558 2015 TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.

PMID 26025130 2015 A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.

PMID 25047097 2015 Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.

PMID 23453664 2013 Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

PMID 25099625 2014 Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD.

rs370343781 in RTEL1;RTEL1-TNFRSF6B gene and PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 PMID 23959892 2013 Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.

PMID 19461895 2009 Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome.

PMID 23453664 2013 Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

PMID 27418648 2016 Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.

PMID 26808564 2016 TCR αβ and CD19-depleted haploidentical stem cell transplant with reduced intensity conditioning for Hoyeraal-Hreidarsson syndrome with RTEL1 mutation.

PMID 27128385 2016 Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome.

PMID 28099038 2017 An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.

PMID 28930861 2017 Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.

PMID 23329068 2013 Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.

PMID 25607374 2015 Rare variants in RTEL1 are associated with familial interstitial pneumonia.