Dyskeratosis Congenita: A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.Myotonia Congenita: Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders.Telomerase: An essential ribonucleoprotein reverse transcriptase that adds telomeric DNA to the ends of eukaryotic CHROMOSOMES.Telomere Shortening: The loss of some TELOMERE sequence during DNA REPLICATION of the first several base pairs of a linear DNA molecule; or from DNA DAMAGE. Cells have various mechanisms to restore length (TELOMERE HOMEOSTASIS.) Telomere shortening is involved in the progression of CELL AGING.Telomere: A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.Leukoplakia: A white patch lesion found on a MUCOUS MEMBRANE that cannot be scraped off. Leukoplakia is generally considered a precancerous condition, however its appearance may also result from a variety of HEREDITARY DISEASES.Pachyonychia Congenita: A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS.Ribonucleoproteins, Small Nucleolar: Nucleolar RNA-protein complexes that function in pre-ribosomal RNA processing.Pigmentation DisordersNails, Malformed: Deformities in nail structure or appearance, including hypertrophy, splitting, clubbing, furrowing, etc. Genetic diseases such as PACHYONYCHIA CONGENITA can result in malformed nails.Telomere-Binding Proteins: Proteins that specifically bind to TELOMERES. Proteins in this class include those that perform functions such as telomere capping, telomere maintenance and telomere stabilization.Nail Diseases: Diseases of the nail plate and tissues surrounding it. The concept is limited to primates.Hyperpigmentation: Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance.Bone Marrow DiseasesAnticipation, Genetic: The apparent tendency of certain diseases to appear at earlier AGE OF ONSET and with increasing severity in successive generations. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)Pancytopenia: Deficiency of all three cell elements of the blood, erythrocytes, leukocytes and platelets.Nuclear Proteins: Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.Telomere Homeostasis: Maintenance of TELOMERE length. During DNA REPLICATION, chromosome ends loose some of their telomere sequence (TELOMERE SHORTENING.) Various cellular mechanism are involved in repairing, extending, and recapping the telomere ends.Cell Cycle Proteins: Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.RNA: A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)Syndrome: A characteristic symptom complex.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Ribonucleoproteins, Small Nuclear: Highly conserved nuclear RNA-protein complexes that function in RNA processing in the nucleus, including pre-mRNA splicing and pre-mRNA 3'-end processing in the nucleoplasm, and pre-rRNA processing in the nucleolus (see RIBONUCLEOPROTEINS, SMALL NUCLEOLAR).Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Nails: The thin, horny plates that cover the dorsal surfaces of the distal phalanges of the fingers and toes of primates.PseudouridineArthrogryposis: Persistent flexure or contracture of a joint.Microcephaly: A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)Anemia, Aplastic: A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements.Rothmund-Thomson Syndrome: An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.Leukoplakia, Oral: A white patch seen on the oral mucosa. It is considered a premalignant condition and is often tobacco-induced. When evidence of Epstein-Barr virus is present, the condition is called hairy leukoplakia (LEUKOPLAKIA, HAIRY).Keratosis: Any horny growth such as a wart or callus.Anemia, Diamond-Blackfan: A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94)Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Hydro-Lyases: Enzymes that catalyze the breakage of a carbon-oxygen bond leading to unsaturated products via the removal of water. EC 4.2.1.Ectodermal Dysplasia: A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.Skin DiseasesFanconi Anemia: Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)DAX-1 Orphan Nuclear Receptor: An orphan nuclear receptor that is implicated in regulation of steroidogenic pathways. It is unlike most orphan nuclear receptors in that it appears to lack an essential DNA-binding domain and instead acts as a transcriptional co-repressor. Mutations in the gene Dax-1 cause congenital adrenal hypoplasia.Darier Disease: An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES.Hemoglobinuria, Paroxysmal: A condition characterized by the recurrence of HEMOGLOBINURIA caused by intravascular HEMOLYSIS. In cases occurring upon cold exposure (paroxysmal cold hemoglobinuria), usually after infections, there is a circulating antibody which is also a cold hemolysin. In cases occurring during or after sleep (paroxysmal nocturnal hemoglobinuria), the clonal hematopoietic stem cells exhibit a global deficiency of cell membrane proteins.X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Myotonic Disorders: Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Keratin-6: A type II keratin found associated with KERATIN-16 or KERATIN-17 in rapidly proliferating squamous epithelial tissue. Mutations in gene for keratin-6A and keratin-6B have been associated with PACHYONYCHIA CONGENITA, TYPE 1 and PACHYONYCHIA CONGENITA, TYPE 2 respectively.Keratoderma, Palmoplantar: Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).Keratin-16: A type I keratin expressed in a variety of EPITHELIUM, including the ESOPHAGUS, the TONGUE, the HAIR FOLLICLE and NAILS. Keratin-16 is normally found associated with KERATIN-6. Mutations in the gene for keratin-6 have been associated with PACHYONYCHIA CONGENITA, TYPE 1.Keratin-17: A type I keratin found associated with KERATIN-6 in rapidly proliferating squamous epithelial tissue. Mutations in the gene for keratin-17 have been associated with PACHYONYCHIA CONGENITA, TYPE 2.Authorship: The profession of writing. Also the identity of the writer as the creator of a literary production.Knowledge Bases: Collections of facts, assumptions, beliefs, and heuristics that are used in combination with databases to achieve desired results, such as a diagnosis, an interpretation, or a solution to a problem (From McGraw Hill Dictionary of Scientific and Technical Terms, 6th ed).Li-Fraumeni Syndrome: Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)Adrenocortical Carcinoma: A malignant neoplasm of the ADRENAL CORTEX. Adrenocortical carcinomas are unencapsulated anaplastic (ANAPLASIA) masses sometimes exceeding 20 cm or 200 g. They are more likely to be functional than nonfunctional, and produce ADRENAL CORTEX HORMONES that may result in hypercortisolism (CUSHING SYNDROME); HYPERALDOSTERONISM; and/or VIRILISM.Sarcoma: A connective tissue neoplasm formed by proliferation of mesodermal cells; it is usually highly malignant.Breast Neoplasms: Tumors or cancer of the human BREAST.Adrenal Cortex Neoplasms: Tumors or cancers of the ADRENAL CORTEX.
"Entrez Gene: DKC1 dyskeratosis congenita 1, dyskerin". Lim, B. C.; Yoo, S. K.; Lee, S; Shin, J. Y.; Hwang, H; Chae, J. H.; ... 1999). "X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene". Am. J. Hum. Genet. 65 ... Mutations in this gene cause X-linked dyskeratosis congenita. Mutations in DKC1 are associated to Hoyeraal-Hreidarsson syndrome ... 2000). "Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1". Genomics. 67 (2): 153-63. doi:10.1006/ ...
... due to mutations in the dyskeratosis congenita gene, DKC1". Br. J. Haematol. 107 (2): 335-9. doi:10.1046/j.1365-2141.1999.01690 ... Dyskeratosis congenita Glousker G, Touzot F, Revy P, Tzfati Y, Savage SA (2015). "Unraveling the pathogenesis of Hoyeraal- ... recessive disorder characterized by excessively short telomeres and is considered a severe form of dyskeratosis congenita. ...
Termination/telomerase: DKC1 *Dyskeratosis congenita. DNA repair. Nucleotide excision repair. *Cockayne syndrome/DeSanctis- ...
Dyskeratosis congenita (DC) is a disease of the bone marrow that can be caused by some mutations in the telomerase subunits. In ... DKC1). The genes of telomerase subunits, which include TERT, TERC, DKC1 and TEP1, are located on different chromosomes. The ... Marrone, A; Walne, A; Dokal, I (June 2005). "Dyskeratosis congenita: telomerase, telomeres and anticipation". Current Opinion ... "X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions". Nat. ...
DKC (dyskeratosis congenita) patients are all characterized by the defective maintenance of telomeres leading to problems with ... Lastly, iPS cells generated with DKC cells with a mutated dyskerin (DKC1) gene cannot assemble the hTERT/RNA complex and thus ... Telomere deficiency is often linked to aging, cancers and the conditions dyskeratosis congenita (DKC) and Cri du chat. ... GeneReviews/NCBI/NIH/UW entry on Dyskeratosis Congenita GeneReviews/NCBI/NIH/UW entry on Pulmonary Fibrosis, Familial TERT ...
TINF2 Dyskeratosis congenita, autosomal recessive; 224230; NOLA3 Dyskeratosis congenita-1; 305000; DKC1 Dyssegmental dysplasia ... GATA1 Dyskeratosis congenita; 127550; TERT Dyskeratosis congenita; 224230; NOLA2 Dyskeratosis congenita, autosomal dominant; ... SLC2A10 Arthrogryposis multiplex congenita, distal type 1; 108120; TPM2 Arthrogryposis multiplex congenita, distal type 2B; ... EIF2B5 Pachyonychia congenita Jackson Lawler type; 167210; KRT17 Pachyonychia congenita Jackson Lawler type; 167210; KRT6B ...
The inherited bone marrow failure syndrome dyskeratosis congenita (DC) is most frequently caused by mutations in DKC1 (MIM# ... The inherited bone marrow failure syndrome dyskeratosis congenita (DC) is most frequently caused by mutations in DKC1 (MIM# ... The inherited bone marrow failure syndrome dyskeratosis congenita (DC) is most frequently caused by mutations in DKC1 (MIM# ... The inherited bone marrow failure syndrome dyskeratosis congenita (DC) is most frequently caused by mutations in DKC1 (MIM# ...
Dkc1 dyskeratosis congenita 1, dyskerin [Mus musculus] Dkc1 dyskeratosis congenita 1, dyskerin [Mus musculus]. Gene ID:245474 ... Dkc1provided by MGI. Official Full Name. dyskeratosis congenita 1, dyskerinprovided by MGI. Primary source. MGI:MGI:1861727 See ... Dkc1 dyskeratosis congenita 1, dyskerin [ Mus musculus (house mouse) ] Gene ID: 245474, updated on 31-Jan-2019 ... mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide ...
Dyskeratosis congenita (DC) is a telomere-mediated syndrome defined by mucocutaneous features. The X-linked mode of inheritance ... Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene Hum Mutat. 2013 Nov;34( ... Dyskeratosis congenita (DC) is a telomere-mediated syndrome defined by mucocutaneous features. The X-linked mode of inheritance ... Telomerase RNA levels were compromised in cells from DKC1 mutation carriers, consistent with their pathogenic role. These ...
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The DKC1 gene provides instructions for making a protein called dyskerin. Learn about this gene and related health conditions. ... Dyskeratosis congenita. More than 40 mutations in the DKC1 gene have been identified in people with dyskeratosis congenita. ... Most of the DKC1 gene mutations that cause dyskeratosis congenita change single amino acids in the dyskerin protein. ... Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita. Blood Cells Mol Dis. 2010 Mar-Apr;44(2): ...
Termination/telomerase: DKC1 *Dyskeratosis congenita. DNA repair. Nucleotide excision repair. *Cockayne syndrome/DeSanctis- ...
"Entrez Gene: DKC1 dyskeratosis congenita 1, dyskerin". Lim, B. C.; Yoo, S. K.; Lee, S; Shin, J. Y.; Hwang, H; Chae, J. H.; ... 1999). "X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene". Am. J. Hum. Genet. 65 ... Mutations in this gene cause X-linked dyskeratosis congenita. Mutations in DKC1 are associated to Hoyeraal-Hreidarsson syndrome ... 2000). "Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1". Genomics. 67 (2): 153-63. doi:10.1006/ ...
Dyskeratosis Congenita. CTC1; DKC1; NHP2; NOP10; TERC; TERT; TINF2; WRAP53 Treacher Collins Syndrome NGS Panel. Treacher ... ABCA3; AP3B1; DKC1; HPS1; HPS4; NKX2-1; SFTPA2; SFTPC; TERC; TERT; TINF2 Diffuse Lung Disease ... ABCA3; AP3B1; CSF2RA; CSF2RB; DKC1; FOXF1; HPS1; HPS4; NKX2-1; SFTPA2; SFTPB; SFTPC; SLC7A7; TERC; TERT; TINF2 Diffuse Lung ...
Rabbit recombinant monoclonal DKC1 antibody [EPR10399] validated for WB, IHC, ICC/IF and tested in Human, Mouse and Rat. With 1 ... Defects in DKC1 are a cause of dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]. XDKC is a rare, progressive bone ... All lanes : Anti-DKC1 antibody [EPR10399] (ab156877) at 1/1000 dilution. Lane 1 : SW480 cell lysate. Lane 2 : HeLa cell lysate ... Defects in DKC1 are the cause of Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]. HHS is a multisystem disorder affecting ...
Genetic Analysis of DKC1 in Dyskeratosis Congenita. (2002) * 83. OKAMURA Jun ID: 9000255895003 Institute for Clinical Research ...
... due to mutations in the dyskeratosis congenita gene, DKC1". Br. J. Haematol. 107 (2): 335-9. doi:10.1046/j.1365-2141.1999.01690 ... Dyskeratosis congenita Glousker G, Touzot F, Revy P, Tzfati Y, Savage SA (2015). "Unraveling the pathogenesis of Hoyeraal- ... recessive disorder characterized by excessively short telomeres and is considered a severe form of dyskeratosis congenita. ...
Complete information for DKC1 gene (Protein Coding), Dyskerin Pseudouridine Synthase 1, including: function, proteins, ... pathogenic, Dyskeratosis congenita X-linked, Dyskeratosis congenita, Dyskeratosis congenita, X-linked (DKCX) [MIM:305000], ... Diseases associated with DKC1 include Dyskeratosis Congenita, X-Linked and Dyskeratosis Congenita. Among its related pathways ... not-provided, Dyskeratosis congenita X-linked, Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]. 154,765,525(+). CT/TC. ...
Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita. Blood Cells Mol Dis. 44:88. ...
Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report. ... Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants. ... Beyond the triad: Inheritance, mucocutaneous phenotype, and mortality in a cohort of patients with dyskeratosis congenita. ... Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected ...
Dyskeratosis congenita is a disorder that can affect many parts of the body. Explore symptoms, inheritance, genetics of this ... Dyskeratosis congenita can have different inheritance patterns.. When dyskeratosis congenita is caused by DKC1 gene mutations, ... In about half of people with dyskeratosis congenita, the disorder is caused by mutations in the TERT, TERC, DKC1, or TINF2 gene ... medlineplus.gov/genetics/condition/dyskeratosis-congenita/ Dyskeratosis congenita. ...
Dkc1. Dyskeratosis congenita 1, dyskerin homolog (human). NM_001030307. Gene Info. Echdc1. Enoyl Coenzyme A hydratase domain ...
Dyskeratosis Congenita, Autosomal (TERC) Sequencing , GeneDx. Example Report. 2006228. Dyskeratosis Congenita, X-linked (DKC1) ...
"Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1.". Heiss N.S., Baechner D., Salowsky R., Kolb A., ... "Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1.". Heiss N.S., Baechner D., Salowsky R., Kolb A., ... "Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification.". Ruggero D., Grisendi S., Piazza F., Rego E ... sp,Q9ESX5,DKC1_MOUSE H/ACA ribonucleoprotein complex subunit 4 OS=Mus musculus GN=Dkc1 PE=1 SV=4 ...
Dyskeratosis congenita: genetics. To date, 9 genes have been reported to cause DC: DKC1, TINF2, TERC, TERT, WRAP53 (TCAB1), ... Dyskeratosis congenita: clinical features. Dyskeratosis congenita (DC) is an inherited marrow failure syndrome whose diagnosis ... due to mutations in the dyskeratosis congenita gene, DKC1. Br J Haematol 1999;107(2):335-339. ... Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification. Science 2003;299(5604):259-262. ...
Dyskeratosis congenita 1(DKC1) is also known as dyskerin. DKC1 is required for ribosome biogenesis and telomere maintenance. It ... Defects in DKC1 are a cause of dyskeratosis congenita X-linked recessive (XDKC), a rare progressive bone marrow failure ... Cbf5• CBF5 homolog• DKC• DKCX• dyskeratosis congenita 1, dyskerin• dyskerin• H/ACA ribonucleoprotein complex subunit 4• NAP57• ... DKC1 is also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse ...
Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene. Hum Mutat. 2013;34(11): ... or DKC1 (n = 3) or had familial forms of dyskeratosis congenita (n = 2) (Supplemental Table 2). The 3-way comparison would ... and 1 patient had classic features of dyskeratosis congenita (DC). In an infant with DKC1 mutation, TREC levels were ... Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol. 2000;110(4):768-779.. View this article via: PubMed CrossRef ...
DKC1 DKC1, IVS1, C-G, +592 single nucleotide variant. Pathogenic. 16. DKC1 NM_001363.4(DKC1): c.146C, T (p.Thr49Met) single ... DKC1 DKC1, IVS12DS, G-A, +1 single nucleotide variant. Pathogenic. 27. DKC1 NM_001363.4(DKC1): c.1049T, C (p.Met350Thr) single ... MalaCards based summary : Dyskeratosis Congenita, X-Linked, also known as dkcx, is related to dyskeratosis congenita and ... MalaCards integrated aliases for Dyskeratosis Congenita, X-Linked:. Name: Dyskeratosis Congenita, X-Linked 57 75 13 ...
DKC1. IBMFS: Dyskeratosis congenita. DIS3. MM. DHX15. AML. DEK. AML with DEK-NUP214. ...
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Patients suffering from dyskeratosis congenita inherit a mutation in a gene named DKC1, identified by Inderjeet Dokal at the ... Whereas dyskeratosis congenita caused by mutations in the DKC1 gene usually presents during infancy, mutations in TERC and in ... The severe phenotype of X-linked dyskeratosis congenita is likely due to the loss of functional DKC1 and markedly reduced ... Patients with dyskeratosis congenita, an inherited bone marrow failure disease characterized by telomerase dysfunction, have a ...
  • The line of best fit for the healthy controls is shown in panels A and B. (C) Comparison of age-adjusted delta Tel in healthy controls and patients with DKC1 and TINF2 mutations. (cdc.gov)
  • Synthetic peptide within Human DKC1 aa 350-450. (abcam.com)
  • Intended Use Human DKC1 ELISA Kit allows for the in vitro quantitative determination of DKC1 , concentrations in serum, Plasma , tissue homogenates and Cell culture supernates and Other biological fluids. (biobool.com)
  • Inquiry About Human DKC1 ELISA Kit If you hope to order it or contact us directly, please contact us via [email protected] (biobool.com)
  • What you see in the mutant mice and the dyskeratosis congenita patients is the consequence of having less telomerase activity in rapidly dividing tissues," said Johnson, co-senior author on the study and an associate professor of pathology and laboratory medicine in Penn Medicine. (upenn.edu)