| 1 | CCDC8, CUL7, GFS, GFS2, GFS3, OBSL1
|
| 3M Syndrome: An Easily Recognizable yet Underdiagnosed Cause of Proportionate Short Stature.
|
| Al-Dosari MS, Al-Shammari M, Shaheen R, Faqeih E, Alghofely MA, Boukai A, Alkuraya FS.
|
| J Pediatr Pediatr. 2012 Feb 9. [Epub ahead of print]
2012
|
| 2 | CCDC8, CUL7, GFS, GFS2, GFS3, OBSL1
|
| Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.
|
| Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC.
|
| Am J Hum Genet 89(1):148-53. Epub 2011 Jul 7.
2011
|
| 3 | CCDC8, CUL7, GFS, GFS2, GFS3, OBSL1, SRS17
|
| Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?
|
| Akawi NA, Ali BR, Hamamy H, Al-Hadidy A, Al-Gazali L.
|
| Am J Med Genet A 155A(6):1236-45. doi: 10.1002/ajmg.a.34009. Epub 2011 May 5.
2011
|
| 4 | CCDC8, CUL7, GFS, GFS2, GFS3, OBSL1, SRS17
|
| The genetics of 3-m syndrome: unravelling a potential new regulatory growth pathway.
|
| Hanson D, Murray PG, Black GC, Clayton PE.
|
| Horm Res Paediatr 76(6):369-78. doi: 10.1159/000334392. Epub 2011 Nov 29.
2011
|
| 5 | CUL7, FBXW8, OBSL1
|
| An OBSL1-Cul7Fbxw8 ubiquitin ligase signaling mechanism regulates Golgi morphology and dendrite patterning.
|
| Litterman N, Ikeuchi Y, Gallardo G, O'Connell BC, Sowa ME, Gygi SP, Harper JW, Bonni A.
|
| PLoS Biol 9(5):e1001060. Epub 2011 May 10.
2011
|
| 6 | OBSL1, TTN
|
| Molecular basis of the head-to-tail assembly of giant muscle proteins obscurin-like 1 and titin.
|
| Sauer F, Vahokoski J, Song YH, Wilmanns M.
|
| EMBO Rep 11(7):534-40. Epub 2010 May 21.PMID: 20489725 2010
|
| 7 | gfs2, obsl1
|
| OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels.
|
| Huber C, Fradin M, Edouard T, Le Merrer M, Alanay Y, Da Silva DB, David A, Hamamy H, van Hest L, Lund AM, Michaud J, Oley C, Patel C, Rajab A, Skidmore DL, Stewart H, Tauber M, Munnich A, Cormier-Daire V.
|
| Hum Mutat. (1):20-6. 2010
|
| 8 | GFS2, OBSL1
|
| The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.
|
| Hanson D, Murray PG, Sud A, Temtamy SA, Aglan M, Superti-Furga A, Holder SE, Urquhart J, Hilton E, Manson FD, Scambler P, Black GC, Clayton PE.
|
| Am J Hum Genet 84(6):801-6. Epub 2009 May 28.
2009
|
| 9 | OBSL1
|
| Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies.
|
| Fukuzawa A, Lange S, Holt M, Vihola A, Carmignac V, Ferreiro A, Udd B, Gautel M.
|
| J Cell Sci 121(Pt 11):1841-51. Epub 2008 May 13.
2008
|
| 10 | OBSL1, SPEG, OBSCN
|
| Obscurin-like 1, OBSL1, is a novel cytoskeletal protein related to obscurin.
|
| Geisler SB, Robinson D, Hauringa M, Raeker MO, Borisov AB, Westfall MV, Russell MW.
|
| Genomics 89(4):521-31. Epub 2007 Feb 6. 2007
|
| 11 | AATK, ACIN1, ACOT11, ACSBG1, ADAMTS4, ADGRV1, AKAP11, ANKLE2, ARHGAP26, ARHGEF2, ASTN2, ATP2C2, ATP9A, BICD2, BZRAP1, C12orf51, CAND2, CEP135, CLASP1, CLASP2, CLUAP1, CLUH, CNOT3, COBL, CPNE3, CRTC1, CRY2, CSTF2T, CUL3, CUL4B, DAAM1, DAGLA, DEPDC5, DNAJC13, DOCK10, DZIP3, FBXW11, FKBP15, G3BP2, HEPH, HIP1R, HIPK1, ICOSLG, KIAA0649, KIAA0652, KIF13B, KIF1C, KIF21A, L3MBTL1, LDB3, MAGI2, MAP4K4, MFAP3L, MGEA5, MRC2, MTMR4, N4BP1, NPHP4, OBSL1, PAN2, PHACTR2, PHF2, PHLDB1, PLXND1, PPFIA3, PTCD1, RAB11FIP3, RBM19, RICH2, RNF40, RNF8, ROCK2, RRP12, SAPS2, SETX, SIN3B, SLC24A1, SMCHD1, SNAP91, SOCS5, SS18L1, SWAP70, TBC1D9B, TELO2, TNRC15, TSC22D2, UBE4B, UHRF1BP1L, ULK2, ZBED4, ZC3H11A, ZNF623
|
| Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
|
| Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N,Ohara O.
|
| DNA Res 5(3):169-76. 1998
|