TINF2, TERF1 interacting nuclear factor 2, 26277

N. diseases: 158; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 Biomarker disease BEFREE Loss of function of dyskerin (DKC1), NOP10 and TIN2 are responsible for different inheritance patterns of Dyskeratosis congenita (DC; ORPHA1775). 29055871 2018
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 Biomarker disease BEFREE Mutations in <i>TINF2</i>, which encodes TIN2, that are found in dyskeratosis congenita (DC) result in very short telomeres and cluster in a region shared by the two TIN2 isoforms, TIN2S (short) and TIN2L (long). 29581185 2018
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 GeneticVariation disease BEFREE A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita. 29742735 2018
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 GeneticVariation disease BEFREE The Tin2 point mutant mice show a dyskeratosis congenita (DC) like phenotype, and the Tpp1 deletion impairs the hematopoietic system. 29550946 2018
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 GeneticVariation disease BEFREE The patient was found to have a TINF2 mutation consistent with a diagnosis of Revesz syndrome, a variant of dyskeratosis congenita. 28866069 2017
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 GeneticVariation disease BEFREE We report ophthalmic findings in twins with Revesz syndrome due to a previously unreported mutation in TINF2 and propose that phenotypic and molecular overlaps between DKC spectrum disorders and pediatric retinal vasculopathies may reflect a shared pathophysiologic basis. 28095086 2017
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 GeneticVariation disease BEFREE Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells. 26859482 2016
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 GeneticVariation disease BEFREE Mutations in genes encoding the shelterin proteins TRF1-interacting nuclear factor 2 (TIN2) and adrenocortical dysplasia homolog (ACD) were identified in dyskeratosis congenita, a syndrome characterized by somatic stem cell dysfunction in multiple organs leading to BM failure and other pleiotropic manifestations. 27135879 2016
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 Biomarker disease BEFREE Here we describe, for the first time, marked improvement in the clinical and laboratory parameters of the pulmonary disease of a child who suffered from TINF2-associated DC and severe pulmonary fibrosis after initiation of therapy with Danazol. 26083318 2015
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 GeneticVariation disease BEFREE We have recapitulated the most common DC-causing mutation in the shelterin component TIN2 by introducing a TIN2-R282H mutation into cultured telomerase-positive human cells via a knock-in approach. 26230315 2015
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 GeneticVariation disease BEFREE Successful treatment with rituximab and mycophenolate mofetil of refractory autoimmune hemolytic anemia post-hematopoietic stem cell transplant for dyskeratosis congenita due to TINF2 mutation. 24168326 2014
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 GeneticVariation disease BEFREE Revesz syndrome, a subtype of dyskeratosis congenita (DC) caused by TINF2 mutation, combines marrow failure with exudative retinopathy, intracranial calcifications, and neurocognitive impairment. 25067791 2014
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 GeneticVariation disease BEFREE These data suggest that this TIN2-DC mutation could induce telomeric dysfunction phenotypes in telomerase-negative somatic cells and tissues that further exacerbate the telomere maintenance problems in telomerase-positive stem cell compartments. 24449270 2014
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 Biomarker disease BEFREE Our results emphasize the critical roles of the TEL patch in proper stem cell function and demonstrate that TPP1 is the second shelterin component (in addition to TIN2) to be implicated in DC. 25233904 2014
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 GeneticVariation disease BEFREE A 9-year-old Japanese male with DC harboring the TINF2 mutation received reduced-intensity HSCT. 23242325 2013
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 GeneticVariation disease BEFREE In a recently published study we showed that the DC mutation cluster in TIN2 harbored a binding site for heterochromatin protein 1 (HP1) and further, that HP1 binding to TIN2 was required for sister telomere cohesion in S phase and for telomere length maintenance by telomerase. 22157096 2012
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 GeneticVariation disease BEFREE Although most TINF2 mutations reported to date are missense changes, each of our patients carried a novel heterozygous nonsense or frameshift mutation, revealing a new 5' boundary to the affected gene segment in patients with DC. 21477109 2012
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 GeneticVariation disease BEFREE Taken together, our data suggest that TIN2 mutations in DC may compromise the telomere recruitment of telomerase, leading to telomere shortening and the associated pathogenesis. 21536674 2011
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 GeneticVariation disease BEFREE TINF2 mutations are present in 11-25% of patients with DC. 21209122 2011
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 Biomarker disease BEFREE Our data indicate a novel requirement for HP1γ in the establishment/maintenance of cohesion at human telomeres and, furthermore, may provide insight into the mechanism of pathogenesis in TIN2-mediated DC. 21865325 2011
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 Biomarker disease GENOMICS_ENGLAND Taken together, our data suggest that TIN2 mutations in DC may compromise the telomere recruitment of telomerase, leading to telomere shortening and the associated pathogenesis. 21536674 2011
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 GeneticVariation disease BEFREE TIN2 mutation analysis must be carried out in patients younger than 10 years presenting with bone marrow failure even if characteristic physical anomalies of DC is missing. 20979174 2010
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 GeneticVariation disease BEFREE In this large series, TINF2 mutations account for approximately 11% of all DC, but they do not play a significant role in patients with related disorders. 18669893 2008
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.900 Biomarker disease GENOMICS_ENGLAND We demonstrate that a fifth gene, TINF2, is mutated in classical DC and, for the first time, in Revesz syndrome. 18252230 2008