Pages that link to "Q24321641"
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The following pages link to Constitutional mutations in RTEL1 cause severe dyskeratosis congenita (Q24321641):
Displaying 50 items.
- Hoyeraal-Hreidarsson syndrome (Q9390252) (← links)
- Regulator of telomere elongation helicase 1 (Q21202226) (← links)
- Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome (Q24318816) (← links)
- Hallmarks of progeroid syndromes: lessons from mice and reprogrammed cells (Q26740026) (← links)
- The short and long telomere syndromes: paired paradigms for molecular medicine (Q26800388) (← links)
- Roles of DNA helicases in the maintenance of genome integrity (Q26861945) (← links)
- Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome (Q27016169) (← links)
- RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability (Q27026906) (← links)
- Cell biology of disease: Telomeropathies: an emerging spectrum disorder (Q28385689) (← links)
- The genomics of inherited bone marrow failure: from mechanism to the clinic. (Q30235895) (← links)
- Many disease-associated variants of hTERT retain high telomerase enzymatic activity (Q30456846) (← links)
- Genomic characterization of the inherited bone marrow failure syndromes (Q33411559) (← links)
- Clinical and Molecular Heterogeneity of RTEL1 Deficiency (Q33619571) (← links)
- Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive (Q33692595) (← links)
- The N-terminal domain of human DNA helicase Rtel1 contains a redox active iron-sulfur cluster. (Q34039889) (← links)
- The diagnosis and treatment of dyskeratosis congenita: a review (Q34094121) (← links)
- Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD. (Q34145752) (← links)
- Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. (Q34271334) (← links)
- Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. (Q34431404) (← links)
- Bone marrow failure and the telomeropathies (Q34431411) (← links)
- Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder (Q34474968) (← links)
- Telomere-regulating genes and the telomere interactome in familial cancers. (Q34784471) (← links)
- Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity (Q34798007) (← links)
- A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome (Q34979383) (← links)
- Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA. (Q35088996) (← links)
- Rare variants in RTEL1 are associated with familial interstitial pneumonia (Q35262015) (← links)
- Diagnosis of Fanconi anemia by diepoxybutane analysis (Q35534473) (← links)
- Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening (Q35554660) (← links)
- Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain (Q35915217) (← links)
- DNA helicases involved in DNA repair and their roles in cancer (Q35961508) (← links)
- Triallelic and epigenetic-like inheritance in human disorders of telomerase (Q36070801) (← links)
- The shelterin complex and hematopoiesis. (Q36867317) (← links)
- Recognizing familial myeloid leukemia in adults (Q37073883) (← links)
- The molecular genetics of the telomere biology disorders (Q37194194) (← links)
- Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis (Q37304109) (← links)
- Applications of high-throughput DNA sequencing to benign hematology (Q37334703) (← links)
- A TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice (Q37541040) (← links)
- Understanding telomere diseases through analysis of patient-derived iPS cells (Q37585471) (← links)
- Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene (Q37587816) (← links)
- Stop pulling my strings - what telomeres taught us about the DNA damage response (Q37742751) (← links)
- Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders (Q38115589) (← links)
- Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes (Q38520096) (← links)
- The wide-ranging clinical implications of the short telomere syndromes (Q38561757) (← links)
- Molecular basis of telomere dysfunction in human genetic diseases (Q38637721) (← links)
- Mammalian telomeres and their partnership with lamins. (Q38818114) (← links)
- Pulmonary fibrosis in the era of stratified medicine. (Q38995612) (← links)
- An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis (Q39014952) (← links)
- Control of Cellular Aging, Tissue Function, and Cancer by p53 Downstream of Telomeres (Q39176621) (← links)
- Updated review of genetic reticulate pigmentary disorders (Q39240567) (← links)
- p53 downregulates the Fanconi anaemia DNA repair pathway. (Q39897828) (← links)