• Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia. (nih.gov)
  • It is caused by compound heterozygous mutations in the CTC1 gene. (iisc.ac.in)
  • therefore, mutations on this gene cause both telomeric and nontelomeric causes of DKC. (medscape.com)
  • Analysis of 270 families in the DKC registry found that mutations in dyskerin ( DKC1 ), TERT , and TERC only account for 64% of patients, with an additional 1% due to NOP10 , suggesting that other genes associated with this syndrome are, as yet, unidentified. (medscape.com)
  • We investigated the effect of loss-of-function mutations in 30 unique gene knockout (KO) lines on plasma metabolites, including genes coding for structural proteins (11 of 30), metabolic pathway enzymes (12 of 30) and protein kinases (7 of 30). (bvsalud.org)
  • mutations in these genes account for approximately one-half of classic DC situations. (emlinhibitor.com)
  • CTC1 Mutations in a patient with dyskeratosis congenita. (medscape.com)
  • The effect of CTC1 variation on telomere length was assessed using Southern blot. (iisc.ac.in)
  • This CTC1 variation was absent in the controls and we also observed a reduced telomere length in the affected individual's DNA, suggesting its likely pathogenic nature. (iisc.ac.in)
  • Many studies have shown that leukocyte telomere length is a heritable trait, and several candidate genes have been identified, including TERT , TERC, OBFC1, and CTC1 . (transhumanist.ru)
  • Among these genes, multiple SNPs were associated with leukocyte telomere length, but the strongest association was observed with one contiguous haplotype in CEP95 and SMURF2 . (transhumanist.ru)
  • all genes associated with this syndrome (ie, DKC1 , TERT, TERC, NOP10 ) encode proteins in the telomerase complex responsible for maintaining telomeres at the ends of chromosomes regarding shortening length, protection, and replication. (medscape.com)
  • Defects in the NOP10 gene were found in association with autosomal recessive DKC. (medscape.com)
  • Transfer RNA-Glu (CTC) 1-5 is a protein that in humans is encoded by the TRE-CTC1-5 gene. (wikipedia.org)
  • In the X-linked recessive form, the gene defect lies in the DKC1 gene (located at Xq28), which encodes for the protein dyskerin. (medscape.com)
  • Another gene implicated in DKC, TINF2 , encodes a key component of the protein shelterin, which plays a role in telomere homeostasis. (medscape.com)
  • The enzyme consists of a protein component with reverse transcriptase activity, and an RNA component, encoded by this gene, that serves as a template for the telomere repeat. (nih.gov)
  • Our method considers a variety of features including protein sequences, gene co-expression, functional association, and phylogenetic profiles. (nature.com)
  • The CST complex is a phylogenetically conserved protein complex consisting of CTC1/Cdc13, Stn1 and Ten1 that protects telomeres on linear chromosomes. (nih.gov)
  • This gene encodes a protein that contains an immunoglobulin-like domain. (utsouthwestern.edu)
  • Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. (utsouthwestern.edu)
  • By studying families impacted by DC for whom a causative mutation has not however been identified, we've got found a homozygous germline mutation in RTEL1, a telomere upkeep gene that, if mutated, can lead to HH. (emlinhibitor.com)
  • Knobloch syndrome type 1 (sequence analysis of COL18A1 gene). (mendelian.co)
  • Knobloch Syndrome, Type I via COL18A1 Gene Sequencing with CNV Detection. (mendelian.co)
  • The panel consists of a selection of the most relevant genes related to Joubert syndrome (characterized by the so-called molar tooth sign), pontocerebellar hypoplasia, and some congenital disorders of glycosylation which prominently affect the cerebellum. (digitis.net)
  • In addition, a mutation in the DKC1 gene is also found on exon 15, revealing a duplication, which adds a lysine residue on a polylysine tract on the C-terminus. (medscape.com)
  • A heterozygous mutation was found on the conserved telomere maintenance component 1 gene ( CTC1 ). (medscape.com)
  • The reported p.H484P mutation is located in the N-terminal 700 amino acid regionthat is important for the binding of CTC1 to ssDNA through its two OB domains. (iisc.ac.in)
  • We analyzed the mutation frequencies of common actionable genes and their association with clinicopathological characteristics and oncologic outcomes using targeted NGS. (preprints.org)
  • Although metabolic alterations are observed in many monogenic and complex genetic disorders, the impact of most mammalian genes on cellular metabolism remains unknown. (bvsalud.org)
  • In both mammalian and fission yeast cells, conserved shelterin and CST (CTC1-STN1-TEN1) complexes play critical roles in protection of telomeres and regulation of telomerase, an. (earlham.ac.uk)
  • 3]. Based on the impacted gene, DC is often inherited in Xlinked recessive (XLR), autosomal dominant (AD), or autosomal recessive (AR) patterns. (emlinhibitor.com)
  • WES data also showed a rare homozygous missense variation in the TEK gene in the affected individual. (iisc.ac.in)
  • PHENOTYPE: Homozygous inactivation of this gene leads to progressive cochlear hair cell degeneration and profound deafness. (utsouthwestern.edu)
  • Mice homozygous for a gene trap allele also exhibit impaired lipid-induced cholecystokinin secretion. (utsouthwestern.edu)
  • Understanding the effect of mouse gene dysfunction on metabolism can inform the functions of their human orthologues. (bvsalud.org)
  • Explore the normal functions of human genes and the health implications of genetic changes. (medlineplus.gov)
  • It can also refer to gene MLC1 or Megalencephalic leukoencephalopathy with subcortical cysts 1 , a human gene related to the former disease. (findzebra.com)
  • Targeted resequencing of the CTC1 gene as well as whole exome sequencing (WES) were conducted in this family to identify the causal variations. (iisc.ac.in)
  • Epilepsy, idiopathic generalized type 11 (sequence analysis of CLCN2 gene). (mendelian.co)
  • MiRNAs are crucial regulators of gene expression found across both the plant and animal kingdoms. (earlham.ac.uk)
  • Evaluation of gene expression of different molecular biomarkers of stress res. (earlham.ac.uk)
  • The expression of this gene may be a diagnostic marker for cancer progression. (utsouthwestern.edu)
  • The most common and best-characterized form is caused by heterozygous pathogenic variants in the CACNA1A gene. (digitis.net)
  • Sex must be considered as critical factor in the biological interpretation of gene functions. (bvsalud.org)
  • Exploring gene networks in two sunflower lines with contrasting leaf senescen. (earlham.ac.uk)
  • all genes associated with this syndrome (ie, DKC1, TERT, TERC, NOP10) encode proteins in the telomerase complex responsible for maintaining telomeres at the ends of chromosomes regarding shortening length, protection, and replication. (medscape.com)
  • In the X-linked recessive form, the gene defect lies in the DKC1 gene (located at Xq28), which encodes for the protein dyskerin. (medscape.com)
  • In addition, a mutation in the DKC1 gene is also found on exon 15, revealing a duplication, which adds a lysine residue on a polylysine tract on the C-terminus. (medscape.com)
  • Individuals with biallelic PARN mutations and PARN -depleted cells exhibited reduced RNA levels for several key genes that are associated with telomere biology, specifically TERC , DKC1 , RTEL1 , and TERF1 . (jci.org)
  • In about half of people with dyskeratosis congenita, the disorder is caused by mutations in the TERT , TERC , DKC1 , or TINF2 gene. (nih.gov)
  • PARN is an extensively characterized exonuclease with deadenylation activity that controls mRNA stability in part and therefore regulates expression of a large number of genes. (jci.org)
  • Collectively, these results identify a role for PARN in telomere maintenance and demonstrate that it is a disease-causing gene in a subset of patients with severe DC. (jci.org)
  • PARN deficiency resulted in decreased expression of genes required for telomere maintenance and an aberrant DNA damage response, including increased levels of p53. (jci.org)
  • Together, the results of this study support PARN as a DC-associated gene and suggest a potential link between p53 and telomere shortening. (jci.org)
  • 19. Unilateral Coats'-like disease and an intragenic deletion in the TERC gene: A case report. (nih.gov)
  • Studies suggest that the CTC1 protein may also have roles in DNA replication unrelated to telomeres, but these functions are not well understood. (medlineplus.gov)
  • As proof of principle, we identified genetic mutants that confer resistance to the carcinogen formaldehyde (FA, 12 genes, 18 hits) and the CML chemotherapeutic agent imatinib (6 genes, 13 hits). (nih.gov)
  • Validation experiments conducted on KBM7 mutants lacking each of the 18 genes confirmed resistance of 6 FA mutants (CTC1, FCRLA, GOT1, LPR5, M1AP, and MAP2K5) and 1 imatinib-resistant mutant (LYRM9). (nih.gov)
  • Telomere stability and development of ctc1 mutants are rescued by inhibition of EJ recombination pathways in a telomerase-dependent manner. (igred.fr)
  • Another entity which deserves a special mention is cerebro retinal microangiopathy with calcifications and cysts is a distinct genetic disorder due to CTC1 gene problem. (neuroradiologycases.com)
  • The CTC1 gene provides instructions for making a protein that plays an important role in structures known as telomeres, which are found at the ends of chromosomes. (medlineplus.gov)
  • The CTC1 protein works as part of a group of proteins known as the CST complex, which is involved in the maintenance of telomeres. (medlineplus.gov)
  • Some people with short telomeres or other gene changes can develop diseases of the bone marrow, lung, and liver. (nih.gov)
  • People ages 3 and older with a telomere disease who have either very short telomeres and a specific gene change. (nih.gov)
  • In both mammalian and fission yeast cells, conserved shelterin and CST (CTC1-STN1-TEN1) complexes play critical roles in protection of telomeres and regulation of telomerase, an. (earlham.ac.uk)
  • This is a global effort to generate " knockout" mice for every protein coding gene in the mouse genome and then carry out a range of tests to understand each gene's biological function. (nih.gov)
  • Because the IMPC researchers are still generating and phenotyping new knockout mice, this approach lays the foundation for a future larger and more comprehensive study of circadian behavior to uncover even more genes that help control circadian rhythm and its effects on health and disease. (nih.gov)
  • RNA interference can be applied in human cells but is limited by incomplete gene knockout and off-target effects. (nih.gov)
  • 600 genes differentially expressed following the PDK1_knockout_265_GSE42187 kinase perturbation from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. (maayanlab.cloud)
  • Genes down-regulated in double positive thymocytes with ELK1 and ELK4 [GeneID=2002;2005] knockout: untreated versus stimulated by anti-CD3. (gsea-msigdb.org)
  • With the changing emphasis from genetic to epigenetic understandings of pathology (including telomere biology), with the use of gene delivery systems (including viral delivery systems), and with the use of cell-based therapies (including stem cell therapies), a fatalistic view of age-related disease is no longer a reasonable clinical default nor an appropriate clinical research paradigm. (lidsen.com)
  • Precedence will be given to papers describing fundamental interventions, including interventions that affect cell senescence, patterns of gene expression, telomere biology, stem cell biology, and other innovative, 21st century interventions, especially if the focus is on clinical applications, ongoing clinical trials, or animal trials preparatory to phase 1 human clinical trials. (lidsen.com)
  • Description of the protein which includes the UniProt Function and the NCBI Gene Summary. (nih.gov)
  • Total count of NCBI Gene Reference Into Function hits for target listed in parenthesis, and summary table with links to publications per PMID with the specific text in article that includes the reported target. (nih.gov)
  • A human haploid cell mutant library (KBM7-Mu), derived from a chronic myeloid leukemia (CML) patient, was recently developed and has been used to identify genes that modulate sensitivity to infectious agents and pharmaceutical drugs. (nih.gov)
  • Pathogenic variants in one of these 16 genes have been identified in approximately 80% of individuals who meet clinical diagnostic criteria for DC/TBD. (nih.gov)
  • Hereditary ichthyosis (NGS panel of 53 genes). (mendelian.co)
  • They found five genes ( Slc7a11 , Rhbdl1 , Spop , Ctc1 and Oxtr ) potentially associated with altered patterns of activity or food intake, giving new insight into genes involved in circadian alignment. (nih.gov)
  • Candidate Genes: Not enough evidence in humans, but potentially associated with the disease. (healthincode.com)
  • Approved gene symbol with link to HUGO Gene Nomenclature Committee. (nih.gov)
  • Proinflammatory cytokines production and the genes responsible for inflammation and oxidative stress also showed higher mRNA and pP65 protein intensity in the LPS group, while Nrf2 showed a remarkable decline in mRNA expression in the LPS versus the CON group. (bvsalud.org)
  • MiRNAs are crucial regulators of gene expression found across both the plant and animal kingdoms. (earlham.ac.uk)
  • Evaluation of gene expression of different molecular biomarkers of stress res. (earlham.ac.uk)
  • OBM Geriatrics is an Open Access journal published quarterly online by LIDSEN Publishing Inc. The journal takes the premise that innovative approaches - including gene therapy, cell therapy, and epigenetic modulation - will result in clinical interventions that alter the fundamental pathology and the clinical course of age-related human diseases. (lidsen.com)
  • Gene symbols, accession ids and various other target identifiers. (nih.gov)
  • Number of Gene Ontology (GO) annotations for this target, consisting of the sum of GO Functions and GO Processes. (nih.gov)
  • RARe-SOURCEā„¢ offers rare disease gene variant annotations and links to rare disease gene literature. (nih.gov)
  • Identification of Genes That Modulate Susceptibility to Formaldehyde and Imatinib by Functional Genomic Screening in Human Haploid KBM7 Cells. (nih.gov)
  • Transfer RNA-Glu (CTC) 1-5 is a protein that in humans is encoded by the TRE-CTC1-5 gene. (wikipedia.org)
  • Human haploid cell screening is advantageous as it requires knockdown of only a single copy of each gene. (nih.gov)