Human Genome and Diseases:¶Dyskeratosis congenita

No abstract is available for this paper.

• Publication year

  2003

• Venue

  Cellular and Molecular Life Sciences (CMLS)

• Publication date

  2003-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s000180300042PMCID PMC11138805
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• Acquired Aplastic Anemia

  2002cited by this paper
• Telomerase in the human organism

  2002cited by this paper
• Biogenesis of small nucleolar ribonucleoproteins.

  2002cited by this paper
• Nucleolar localization of hTERT protein is associated with telomerase function.

  2002cited by this paper
• Increased mortality rate and not impaired ribosomal biogenesis is responsible for proliferative defect in dyskeratosis congenita cell lines.

  2002cited by this paper
• Association between aplastic anaemia and mutations in telomerase RNA.

  2002cited by this paper
• The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

  2001cited by this paper
• RNomics: an experimental approach that identifies 201 candidates for novel, small, non‐messenger RNAs in mouse

  2001cited by this paper
• The snoRNA domain of vertebrate telomerase RNA functions to localize the RNA within the nucleus.

  2001cited by this paper
• Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita.

  2001cited by this paper
• One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC).

  2001cited by this paper
• Stable Association of hsp90 and p23, but Not hsp70, with Active Human Telomerase*

  2001cited by this paper
• Identification of Functional Domains and Dominant Negative Mutations in Vertebrate Telomerase RNA Using an in VivoReconstitution System*

  2001cited by this paper
• Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis

  2001cited by this paper
• Secondary structure of vertebrate telomerase RNA.

  2000cited by this paper
• Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome.

  2000cited by this paper
• Human H/ACA Small Nucleolar RNPs and Telomerase Share Evolutionarily Conserved Proteins NHP2 and NOP10

  2000cited by this paper
• Dyskeratosis congenita, telomeres and human ageing.

  2000cited by this paper
• Dyskeratosis congenita in all its forms

  2000cited by this paper
• Protein trans-Acting Factors Involved in Ribosome Biogenesis in Saccharomyces cerevisiae

  1999cited by this paper
• Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal‐Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

  1999cited by this paper
• A Box H/ACA Small Nucleolar RNA-Like Domain at the Human Telomerase RNA 3′ End

  1999cited by this paper
• X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

  1999cited by this paper
• Dyskeratosis Congenita Caused by a 3′ Deletion: Germline and Somatic Mosaicism in a Female Carrier

  1999cited by this paper
• minifly, A Drosophila Gene Required for Ribosome Biogenesis

  1999cited by this paper
• Novel Predicted RNA-Binding Domains Associated with the Translation Machinery

  1999cited by this paper
• Analysis of epitope-tagged forms of the dyskeratosis congenital protein (dyskerin): identification of a nuclear localization signal.

  1999cited by this paper
• Disease states associated with telomerase deficiency appear earlier in mice with short telomeres

  1999cited by this paper
• A telomerase component is defective in the human disease dyskeratosis congenita

  1999cited by this paper
• Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita.

  1999cited by this paper
• Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene.

  1999cited by this paper
• Point Mutations in Yeast CBF5 Can Abolish In Vivo Pseudouridylation of rRNA

  1999cited by this paper
• Longevity, stress response, and cancer in aging telomerase-deficient mice.

  1999cited by this paper
• Critical Aspartic Acid Residues in Pseudouridine Synthases*

  1999cited by this paper
• 1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis.

  1998cited by this paper
• Essential role of mouse telomerase in highly proliferative organs

  1998cited by this paper
• The Nop60B gene of Drosophila encodes an essential nucleolar protein that functions in yeast

  1998cited by this paper
• Nhp2p and Nop10p are essential for the function of H/ACA snoRNPs

  1998cited by this paper
• One-step affinity purification protocol for human telomerase

  1998cited by this paper
• The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase.

  1998cited by this paper
• Birth of the snoRNPs: the evolution of the modification-guide snoRNAs.

  1998cited by this paper
• Dyskeratosis Congenita (DC) Registry: identification of new features of DC

  1998cited by this paper
• Cbf5p, a potential pseudouridine synthase, and Nhp2p, a putative RNA-binding protein, are present together with Gar1p in all H BOX/ACA-motif snoRNPs and constitute a common bipartite structure.

  1998cited by this paper
• Dyskeratosis Congenita: Multisystemic Disorder with Special Consideration of Immunologic Aspects

  1998cited by this paper
• Chromosomal breakage analysis in dyskeratosis congenita peripheral blood lymphocytes

  1998cited by this paper
• X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

  1998cited by this paper
• Progressive Telomere Shortening in Aplastic Anemia

  1998cited by this paper
• Skewed X-inactivation in carriers of X-linked dyskeratosis congenita.

  1997cited by this paper
• TLP1: a gene encoding a protein component of mammalian telomerase is a novel member of WD repeats family.

  1997cited by this paper
• Telomerase catalytic subunit homologs from fission yeast and human.

  1997cited by this paper
• The yeast nucleolar protein Cbf5p is involved in rRNA biosynthesis and interacts genetically with the RNA polymerase I transcription factor RRN3

  1997cited by this paper
• Site-specific pseudouridine formation in preribosomal RNA is guided by small nucleolar RNAs.

  1997cited by this paper
• Telomere shortening and tumor formation by mouse cells lacking telomerase RNA.

  1997cited by this paper
• Amplification, increased dosage and in situ expression of the telomerase RNA gene in human cancer

  1997cited by this paper
• Small nucleolar RNAs direct site-specific synthesis of pseudouridine in ribosomal RNA.

  1997cited by this paper
• Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.

  1997cited by this paper
• Reverse transcriptase motifs in the catalytic subunit of telomerase.

  1997cited by this paper
• Nonrandom X-chromosome inactivation in hemopoietic cells from carriers of dyskeratosis congenita.

  1997cited by this paper
• A Mammalian Telomerase-Associated Protein

  1997cited by this paper
• A small nucleolar RNP protein is required for pseudouridylation of eukaryotic ribosomal RNAs

  1997cited by this paper
• The yeast gene YNL292w encodes a pseudouridine synthase (Pus4) catalyzing the formation of psi55 in both mitochondrial and cytoplasmic tRNAs.

  1997cited by this paper
• Fine mapping of the dyskeratosis congenita locus in Xq28.

  1996cited by this paper
• Telomerase activity in human germline and embryonic tissues and cells.

  1996cited by this paper
• Telomerase activity in hematopoietic cells is associated with self-renewal potential.

  1996cited by this paper
• Telomere length regulation.

  1996cited by this paper
• Dyskeratosis congenita: an inherited bone marrow failure syndrome

  1996cited by this paper
• Activation of telomerase in human lymphocytes and hematopoietic progenitor cells.

  1995cited by this paper
• Clonality and X-inactivation patterns in hematopoietic cell populations detected by the highly informative M27 beta DNA probe.

  1994cited by this paper
• Specific association of human telomerase activity with immortal cells and cancer.

  1994cited by this paper
• NAP57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria [published erratum appears in J Cell Biol 1998 Jan 26;140(2):447]

  1994cited by this paper
• An essential yeast protein, CBF5p, binds in vitro to centromeres and microtubules

  1993cited by this paper
• Dyskeratosis congenita: three additional families show linkage to a locus in Xq28.

  1993cited by this paper
• Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

  1992cited by this paper
• GAR1 is an essential small nucleolar RNP protein required for pre‐rRNA processing in yeast.

  1992cited by this paper
• Structure and function of telomeres

  1991cited by this paper
• Telomeres shorten during ageing of human fibroblasts

  1990cited by this paper
• Assignment of the gene for dyskeratosis congenita to Xq28

  1986cited by this paper
• Dyskeratosis congenita. Report of a large kindred

  1981cited by this paper
• Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature.

  1975cited by this paper
• DYSKERATOSIS CONGENITA. A CASE WITH NEW FEATURES.

  1964cited by this paper
• DYSKERATOSIS CONGENITA WITH PIGMENTATION, DYSTROPHIA UNGUIS AND LEUKOKERATOSIS ORIS

  year unknowncited by this paper
• A unique case of reticular pigmentation of the skin with atrophy

  year unknowncited by this paper

• RNA modifications in gynecological cancer: current status and future directions

  2024cites this paper
• 2.7 Å cryo-EM structure of human telomerase H/ACA ribonucleoprotein

  2024cites this paper
• A Novel Variant and a Missense Variant Identified in the DKC1 Gene in Three Chinese Familieswith Dyskeratosis Congenita

  2022cites this paper
• Overview of familial syndromes with increased skin malignancies

  2022cites this paper
• Genodermatoses II

  2020cites this paper
• mRNA pseudouridylation affects RNA metabolism in the parasite Toxoplasma gondii

  2017cites this paper
• Introduction to Telomeres and Telomerase.

  2017cites this paper
• Novel insights into the evolution and structural characterization of dyskerin using comprehensive bioinformatics analysis.

  2015cites this paper
• Nucleolar stress with and without p53

  2014cites this paper
• Severity of X‐linked Dyskeratosis Congenita (DKCX) Cellular Defects Is not Directly Related to Dyskerin (DKC1) Activity in Ribosomal RNA Biogenesis or mRNA Translation

  2013cites this paper
• The gastrointestinal manifestations of telomere‐mediated disease

  2013cites this paper
• Structure, Function, and Biogenesis of Small Nucleolar Ribonucleoprotein Particles

  2013cites this paper
• Telomere length and its relationship with chronic diseases - new perspectives for periodontal research.

  2013cites this paper
• congenita and in telomerase deficient human cells A dyskerin motif reactivates telomerase activity in X-linked dyskeratosis

  2013cites this paper
• It all comes together at the ends: telomerase structure, function, and biogenesis.

  2012cites this paper
• Expressional analysis of NOLA1, NOLA2, NOLA3 and DKC1, the core proteins in H/ACA riboproteins, in gastric and colorectal cancers.

  2012cites this paper
• The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.

  2012cites this paper
• The human telomerase catalytic subunit and viral telomerase RNA reconstitute a functional telomerase complex in a cell-free system, but not in human cells

  2012cites this paper
• Defects in mTR stability and telomerase activity produced by the Dkc1A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain

  2012cites this paper
• Reduced-Intensity Conditioning Using Fludarabine and Antithymocyte Globulin Alone Allows Stable Engraftment in a Patient with Dyskeratosis Congenita

  2010cites this paper
• Dyskeratosis congenita: clinical report and review of the literature.

  2010cites this paper
• Molecular Genetics and Prenatal Diagnosis

  2010cites this paper
• Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs.

  2010cites this paper
• Structures of ribonucleoprotein particle modification enzymes

  2010cites this paper
• Telomere Dysfunction and the DNA Damage Response

  2009cites this paper
• Chromosome aberrations and environmental exposures in acute leukemia

  2009cites this paper
• RNA interference-mediated validation of genes involved in telomere maintenance and evasion of apoptosis as cancer therapeutic targets.

  2009cites this paper
• A dyskerin motif reactivates telomerase activity in X-linked dyskeratosis congenita and in telomerase-deficient human cells.

  2008cites this paper
• A case of dyskeratosis congenita with Chiari 1 malformation, absence of inferior vena cava, webbed neck, and low posterior hair neck

  2008cites this paper
• Telomerase Mutations and Premature Ageing in Humans

  2008cites this paper
• Dyskeratosis congenita associated with hypocellular myelodysplastic syndrome: a case report.

  2007cites this paper
• Substrate RNA positioning in the archaeal H/ACA ribonucleoprotein complex

  2007cites this paper
• Telomerase as a clinical target: current strategies and potential applications.

  2007cites this paper
• Telomere Maintenance through Spatial Control of Telomeric Proteins

  2007cites this paper
• Dyskeratosis congenita: its connections with oral and maxillofacial surgery.

  2007cites this paper
• Dyskeratosis congenita: a genetic disorder of many faces

  2007cites this paper
• Mechanisms of ageing in chronic allograft nephropathy

  2007cites this paper
• Dyskeratosis congenita

  2007cites this paper
• Cellular Memory and Hematopoietic Stem Cell Aging

  2006cites this paper
• System‐wide analysis of hepatotoxicological responses: Tissomics is key

  2006cites this paper
• Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.

  2006cites this paper
• Novel roles for telomerase in aging.

  2006cites this paper
• Crystal structure of a Cbf5-Nop10-Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenita.

  2006cites this paper
• The many facets of H/ACA ribonucleoproteins

  2005cites this paper
• Dyskeratosis congenita: telomerase, telomeres and anticipation.

  2005cites this paper
• Comparative Functional Study of the Viral Telomerase RNA Based on Natural Mutations*

  2005cites this paper
• Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.

  2005cites this paper
• Gene expression profiles in HEK-293 cells with low or high store-operated calcium entry: can regulatory as well as regulated genes be identified?

  2005cites this paper
• Telomerase RNA structure and function: implications for dyskeratosis congenita.

  2004cites this paper
• Telomeres and Telomerase: A Modern Fountain of Youth?

  2004cites this paper
• Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins

  2004cites this paper
• The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor.

  2004cites this paper
• Dyskeratosis congenita and telomerase

  2004cites this paper
• From cells to ageing: a review of models and mechanisms of cellular senescence and their impact on human ageing.

  2004cites this paper
• Mechanisms and functions of RNA-guided RNA modification

  2004cites this paper
• Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita

  2004cites this paper
• Familial (inherited) leukemia, lymphoma, and myeloma: an overview.

  2004cites this paper
• Telomeres, telomerase, and hematopoietic stem cell biology.

  2003cites this paper