Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 TINF2 mutations in children with severe aplastic anemia.

Literature DB >> 19090550

TINF2 mutations in children with severe aplastic anemia.

Hong-Yan Du, Philip J Mason, Monica Bessler, David B Wilson.

Abstract

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2009 PMID： 19090550 PMCID： PMC2860792 DOI： 10.1002/pbc.21903

Source DB: PubMed Journal: Pediatr Blood Cancer ISSN： 1545-5009 Impact factor: 3.167

× No keyword cloud information.

4 in total

1. NOLA1 gene mutations in acquired aplastic anemia.

Authors: Simona Pigullo; Elisa Pavesi; Irma Dianzani; Giuseppe Santamaria; Johanna Svahn; Marco Risso; Maria Teresa Van Lint; Marta Pillon; A P Iori; Daniela Longoni; Ugo Ramenghi; Marina Lanciotti; Carlo Dufour
Journal: Pediatr Blood Cancer Date: 2009-03 Impact factor: 3.167

2. Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome.

Authors: Joshua J Field; Philip J Mason; Ping An; Yumi Kasai; Michael McLellan; Sara Jaeger; Yvonne J Barnes; Allison A King; Monica Bessler; David B Wilson
Journal: J Pediatr Hematol Oncol Date: 2006-07 Impact factor: 1.289

3. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.

Authors: Sharon A Savage; Neelam Giri; Gabriela M Baerlocher; Nick Orr; Peter M Lansdorp; Blanche P Alter
Journal: Am J Hum Genet Date: 2008-01-31 Impact factor: 11.025

4. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.

Authors: Amanda J Walne; Tom Vulliamy; Richard Beswick; Michael Kirwan; Inderjeet Dokal
Journal: Blood Date: 2008-07-30 Impact factor: 22.113

4 in total

17 in total

TINF2 mutations in children with severe aplastic anemia.

1. NOLA1 gene mutations in acquired aplastic anemia.

2. Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome.

3. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.

4. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.

Review 1. The genetics of dyskeratosis congenita.

2. The relationship between DNA methylation and telomere length in dyskeratosis congenita.

Review 3. Inherited bone marrow failure syndromes in 2012.

Review 4. Recent progress in dyskeratosis congenita.

5. Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.

6. Telomere dysfunction in human diseases: the long and short of it!

Review 7. Molecular basis of telomere dysfunction in human genetic diseases.

Review 8. The genetics and clinical manifestations of telomere biology disorders.

9. Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.

10. Transcriptional activation of TINF2, a gene encoding the telomere-associated protein TIN2, by Sp1 and NF-κB factors.