DYM: Difference between revisions
Content deleted Content added
No edit summary |
moving link to cite |
||
| (One intermediate revision by one other user not shown) | |||
| Line 4: | Line 4: | ||
'''Dymeclin''' is a [[protein]] that in humans is encoded by the ''DYM'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: DYM dymeclin| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54808| accessdate = }}</ref> |
'''Dymeclin''' is a [[protein]] that in humans is encoded by the ''DYM'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: DYM dymeclin| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54808| accessdate = }}</ref> |
||
This gene encodes a protein which is necessary for normal skeletal development and [[Brain|brain function]] and has been first described and named in 2003 |
This gene encodes a protein which is necessary for normal skeletal development and [[Brain|brain function]] and has been first described and named in 2003.<ref name="El Ghouzzi 2003 pp. 357–364">{{cite journal | last=El Ghouzzi | first=V. | title=Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome | journal=Human Molecular Genetics | publisher=Oxford University Press (OUP) | volume=12 | issue=3 | date=2003-02-01 | issn=1460-2083 | doi=10.1093/hmg/ddg029 | pages=357–364 |pmid=12554689}}</ref> Mutations in this gene are associated with two types of recessive [[osteochondrodysplasias]], Dyggve-Melchior-Clausen (DMC) [[syndrome]], which involves both skeletal defects and postnatal microcephaly with intellectual deficiency, and Smith-McCort (SMC) dysplasia, which involves skeletal defects only.<ref name="entrez"/> |
||
==References== |
==References== |
||
| Line 20: | Line 20: | ||
*{{cite journal | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal|doi-access=free }} |
*{{cite journal | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal|doi-access=free }} |
||
*{{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}} |
*{{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}} |
||
*{{cite journal | vauthors=Clark TA, Schweitzer AC, Chen TX |title=Discovery of tissue-specific exons using comprehensive human exon microarrays |journal=Genome Biol. |volume=8 |issue= 4 |pages= R64 |year= 2007 |pmid= 17456239 |doi= 10.1186/gb-2007-8-4-r64 | pmc=1896007 |display-authors=etal}} |
*{{cite journal | vauthors=Clark TA, Schweitzer AC, Chen TX |title=Discovery of tissue-specific exons using comprehensive human exon microarrays |journal=Genome Biol. |volume=8 |issue= 4 |pages= R64 |year= 2007 |pmid= 17456239 |doi= 10.1186/gb-2007-8-4-r64 | pmc=1896007 |display-authors=etal |doi-access=free }} |
||
{{refend}} |
{{refend}} |
||
Latest revision as of 17:40, 23 January 2024
Dymeclin is a protein that in humans is encoded by the DYM gene.[5]
This gene encodes a protein which is necessary for normal skeletal development and brain function and has been first described and named in 2003.[6] Mutations in this gene are associated with two types of recessive osteochondrodysplasias, Dyggve-Melchior-Clausen (DMC) syndrome, which involves both skeletal defects and postnatal microcephaly with intellectual deficiency, and Smith-McCort (SMC) dysplasia, which involves skeletal defects only.[5]
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000141627 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035765 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: DYM dymeclin".
- ^ El Ghouzzi, V. (2003-02-01). "Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome". Human Molecular Genetics. 12 (3). Oxford University Press (OUP): 357–364. doi:10.1093/hmg/ddg029. ISSN 1460-2083. PMID 12554689.
Further reading
[edit]- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Ehtesham N, Cantor RM, King LM, et al. (2002). "Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12". Am. J. Hum. Genet. 71 (4): 947–51. doi:10.1086/342669. PMC 378548. PMID 12161821.
- Thauvin-Robinet C, El Ghouzzi V, Chemaitilly W, et al. (2002). "Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1". J. Med. Genet. 39 (10): 714–7. doi:10.1136/jmg.39.10.714. PMC 1734996. PMID 12362026.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Cohn DH, Ehtesham N, Krakow D, et al. (2003). "Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene". Am. J. Hum. Genet. 72 (2): 419–28. doi:10.1086/346176. PMC 420018. PMID 12491225.
- El Ghouzzi V, Dagoneau N, Kinning E, et al. (2003). "Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome". Hum. Mol. Genet. 12 (3): 357–64. doi:10.1093/hmg/ddg029. PMID 12554689.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Clark TA, Schweitzer AC, Chen TX, et al. (2007). "Discovery of tissue-specific exons using comprehensive human exon microarrays". Genome Biol. 8 (4): R64. doi:10.1186/gb-2007-8-4-r64. PMC 1896007. PMID 17456239.
 | This article on a gene on human chromosome 18 is a stub. You can help Wikipedia by expanding it. |