| Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants. | Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.
Tüysüz B, Alp Ünkar Z, Turan H, Gezdirici A, Uludağ Alkaya D, Kasap B, Yeşil G, Vural M, Ercan O. | 03/5/2022 |
| A rare cause of syndromic short stature: 3M syndrome in three families. | A rare cause of syndromic short stature: 3M syndrome in three families.
Isik E, Arican D, Atik T, Ooi JE, Darcan S, Ozen S, Simsek Kiper PO, Utine E, Cogulu O, Ozkinay F. | 07/10/2021 |
| Three M syndrome 2 in two Indian patients. | Three M syndrome 2 in two Indian patients.
Jacob P, Girisha KM. | 07/10/2021 |
| The mutational spectrum of CUL7, OBSL1, and investigation of genotype-phenotype correlation in 3M syndrome has been reported. | Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
Simsek-Kiper PO, Taskiran E, Kosukcu C, Arslan UE, Cormier-Daire V, Gonc N, Ozon A, Alikasifoglu A, Kandemir N, Utine GE, Alanay Y, Alikasifoglu M, Boduroglu K. | 06/13/2020 |
| Crystal structure of the obscurin(-like-1):myomesin complex reveals a trans-complementation mechanism whereby an incomplete immunoglobulin-like domain assimilates an isoform-specific myomesin interdomain sequence. | Binding of Myomesin to Obscurin-Like-1 at the Muscle M-Band Provides a Strategy for Isoform-Specific Mechanical Protection.
Pernigo S, Fukuzawa A, Beedle AEM, Holt M, Round A, Pandini A, Garcia-Manyes S, Gautel M, Steiner RA., Free PMC Article | 10/21/2017 |
| Data indicate that the patient has a homozygous mutation in obscurin like 1 obscurin-like protein 1 (OBSL1) gene, and that both of the parents had heterozygous mutations on OBSL1. | A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene.
Keskin M, Muratoğlu Şahin N, Kurnaz E, Bayramoğlu E, Savaş Erdeve Ş, Aycan Z, Çetinkaya S., Free PMC Article | 07/8/2017 |
| The cytoskeletal adaptor OBSL1 was discovered as a previously unrecognized interaction partner of the minor capsid protein L2 and was identified as a proviral host factor required for HPV16 endocytosis into target cells. | The Cytoskeletal Adaptor Obscurin-Like 1 Interacts with the Human Papillomavirus 16 (HPV16) Capsid Protein L2 and Is Required for HPV16 Endocytosis.
Wüstenhagen E, Hampe L, Boukhallouk F, Schneider MA, Spoden GA, Negwer I, Koynov K, Kast WM, Florin L., Free PMC Article | 05/20/2017 |
| High-quality solution NMR structures of immunoglobulin-like domains 7 and 12 from human obscurin-like protein 1 were solved. The two domains share 30% sequence identity and their structures are, as expected, rather similar. | Solution NMR structures of immunoglobulin-like domains 7 and 12 from obscurin-like protein 1 contribute to the structural coverage of the Human Cancer Protein Interaction Network.
Pulavarti SV, Huang YJ, Pederson K, Acton TB, Xiao R, Everett JK, Prestegard JH, Montelione GT, Szyperski T., Free PMC Article | 07/25/2015 |
| CUL7, OBSL1 and CCDC8 modulate the alternative splicing of the INSR | Identifying biological pathways that underlie primordial short stature using network analysis.
Hanson D, Stevens A, Murray PG, Black GC, Clayton PE., Free PMC Article | 01/17/2015 |
| The CUL7, OBSL1, and CCDC8 proteins form a 3M complex that functions in maintaining microtubule and genome integrity and normal development. | The 3M complex maintains microtubule and genome integrity.
Yan J, Yan F, Li Z, Sinnott B, Cappell KM, Yu Y, Mo J, Duncan JA, Chen X, Cormier-Daire V, Whitehurst AW, Xiong Y., Free PMC Article | 08/9/2014 |
| Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. | Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.
Hanson D, Murray PG, Coulson T, Sud A, Omokanye A, Stratta E, Sakhinia F, Bonshek C, Wilson LC, Wakeling E, Temtamy SA, Aglan M, Rosser EM, Mansour S, Carcavilla A, Nampoothiri S, Khan WI, Banerjee I, Chandler KE, Black GC, Clayton PE. | 03/16/2013 |
| discussion of roles of OBSL1, CUL7 (cullin 7), and CCDC8 (coiled-coil domain containing protein 8) in growth and development using findings from patients with Miller-McKusick-Malvaux syndrome and Silver-Russell syndrome [REVIEW] | The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway.
Hanson D, Murray PG, Black GC, Clayton PE. | 04/21/2012 |
| We propose that CUL7, OBSL1, and CCDC8 are members of a pathway controlling mammalian growth. | 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., Free PMC Article | 09/24/2011 |
| OBSL1 modulates the expression of IGFBP2 and IGFBP5 proteins in 3-M syndrome. | 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. | 03/15/2010 |
| Loss of OBSL1 leads to downregulation of CUL7 and results in primordial growth disorder 3-M syndrome. | 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., Free PMC Article | 01/21/2010 |
| N-terminal Ig-domains of Obsl1 and Obscurin (Obsc) bind to titin-M10 and myomesin. Titin mutations, linked to limb-girdle muscular dystrophy 2J (LGMD2J) or Salih myopathy, weaken or abrogate titin-Obsc and titin-Obsl1 binding. | 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. | 03/17/2009 |
| report the cloning and characterization of OBSL1; OBSL1 is located on human chromosome 2q35 within 100 kb of SPEG, another gene related to obscurin | 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., Free PMC Article | 01/21/2010 |