The genetics and clinical manifestations of telomere biology disorders.
about
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disordersConstitutional mutations in RTEL1 cause severe dyskeratosis congenitaHereditary Predispositions to Myelodysplastic SyndromeTelomeres and immune competencyShort telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancyCharacterization of population-based variation and putative functional elements for the multiple-cancer susceptibility loci at 5p15.33Super-resolution fluorescence imaging of telomeres reveals TRF2-dependent T-loop formationERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.Telomerase activity increased and telomere length shortened in peripheral blood cells from patients with immune thrombocytopenia.Genomic characterization of the inherited bone marrow failure syndromes.Genome-wide association study identifies multiple risk loci for renal cell carcinoma.The diagnosis and treatment of dyskeratosis congenita: a review.Binding of TPP1 protein to TIN2 protein is required for POT1a,b protein-mediated telomere protection.Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.Telomere maintenance mechanisms in cancer: clinical implicationsInherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.Extreme telomere length dimorphism in the Tasmanian devil and related marsupials suggests parental control of telomere lengthUnraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorderTelomere length in inherited bone marrow failure syndromesA recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.Dyskeratosis congenita as a disorder of telomere maintenance.Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita CellsNeuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology?A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plusTelomeres: the beginnings and ends of eukaryotic chromosomes.Telomere Length as an Indicator of the Robustness of B- and T-Cell Response to Influenza in Older Adults.Biogenesis of telomerase ribonucleoproteinsMechanisms of telomere loss and their consequences for chromosome instability.A three-state model of telomere control over human proliferative boundaries.Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-UpGermline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.A Reduced-Intensity Conditioning Regimen for Patients with Dyskeratosis Congenita Undergoing Hematopoietic Stem Cell TransplantationMutations in the telomere capping complex in bone marrow failure and related syndromes.Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.Interactions of the human telomere sequence with the nanocavity of the α-hemolysin ion channel reveal structure-dependent electrical signatures for hybrid folds.Genetic predispositions to childhood leukemia.Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita.
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The genetics and clinical manifestations of telomere biology disorders.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on December 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
The genetics and clinical manifestations of telomere biology disorders.
@en
The genetics and clinical manifestations of telomere biology disorders.
@nl
type
label
The genetics and clinical manifestations of telomere biology disorders.
@en
The genetics and clinical manifestations of telomere biology disorders.
@nl
prefLabel
The genetics and clinical manifestations of telomere biology disorders.
@en
The genetics and clinical manifestations of telomere biology disorders.
@nl
P2860
P1433
P1476
The genetics and clinical manifestations of telomere biology disorders.
@en
P2093
Alison A Bertuch
P2860
P2888
P304
P356
10.1097/GIM.0B013E3181F415B5
P407
P577
2010-12-01T00:00:00Z
P6179
1039066643