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For: Clayton PE, Hanson D, Magee L, Murray PG, Saunders E, Abu-Amero SN, Moore GE, Black GC. Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination. Clin Endocrinol (Oxf). 2012;77:335-342. [PMID: 22624670 DOI: 10.1111/j.1365-2265.2012.04428.x] [Cited by in Crossref: 35] [Cited by in F6Publishing: 32] [Article Influence: 3.9] [Reference Citation Analysis]
Number Citing Articles
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2 Liao L, Gan HW, Hwa V, Dattani M, Dauber A. Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome. Horm Res Paediatr 2017;88:364-70. [PMID: 28675896 DOI: 10.1159/000477907] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.4] [Reference Citation Analysis]
3 Nie J, Xu C, Jin J, Aka JA, Tempel W, Nguyen V, You L, Weist R, Min J, Pawson T, Yang XJ. Ankyrin repeats of ANKRA2 recognize a PxLPxL motif on the 3M syndrome protein CCDC8. Structure 2015;23:700-12. [PMID: 25752541 DOI: 10.1016/j.str.2015.02.001] [Cited by in Crossref: 13] [Cited by in F6Publishing: 11] [Article Influence: 1.9] [Reference Citation Analysis]
4 Pulavarti SV, Huang YJ, Pederson K, Acton TB, Xiao R, Everett JK, Prestegard JH, Montelione GT, Szyperski T. 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. J Struct Funct Genomics 2014;15:209-14. [PMID: 24989974 DOI: 10.1007/s10969-014-9185-y] [Reference Citation Analysis]
5 Deeb A, Afandi O, Attia S, Fatih AE. 3-M syndrome: a novel CUL7 mutation associated with respiratory distress and a good response to GH therapy. Endocrinol Diabetes Metab Case Rep. 2015;2015:150012. [PMID: 25945256 DOI: 10.1530/EDM-15-0012] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.4] [Reference Citation Analysis]
6 Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, Alomar R, Sogaty S, Alkuraya FS. Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Res 2014;24:291-9. [PMID: 24389050 DOI: 10.1101/gr.160572.113] [Cited by in Crossref: 103] [Cited by in F6Publishing: 89] [Article Influence: 12.9] [Reference Citation Analysis]
7 Hanson D, Stevens A, Murray PG, Black GC, Clayton PE. Identifying biological pathways that underlie primordial short stature using network analysis. J Mol Endocrinol 2014;52:333-44. [PMID: 24711643 DOI: 10.1530/JME-14-0029] [Cited by in Crossref: 23] [Cited by in F6Publishing: 15] [Article Influence: 2.9] [Reference Citation Analysis]
8 Murray PG, Hanson D, Coulson T, Stevens A, Whatmore A, Poole RL, Mackay DJ, Black GC, Clayton PE. 3-M syndrome: a growth disorder associated with IGF2 silencing. Endocr Connect 2013;2:225-35. [PMID: 24148222 DOI: 10.1530/EC-13-0065] [Cited by in Crossref: 14] [Cited by in F6Publishing: 8] [Article Influence: 1.6] [Reference Citation Analysis]
9 Wei M, Zhao X, Liu M, Huang Z, Xiao Y, Niu M, Shao Y, Kleiman L. Inhibition of HIV-1 assembly by coiled-coil domain containing protein 8 in human cells. Sci Rep 2015;5:14724. [PMID: 26423533 DOI: 10.1038/srep14724] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 0.7] [Reference Citation Analysis]
10 Pan ZQ. Cullin-RING E3 Ubiquitin Ligase 7 in Growth Control and Cancer. Adv Exp Med Biol 2020;1217:285-96. [PMID: 31898234 DOI: 10.1007/978-981-15-1025-0_17] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
11 Dauber A, Rosenfeld RG, Hirschhorn JN. Genetic evaluation of short stature. J Clin Endocrinol Metab 2014;99:3080-92. [PMID: 24915122 DOI: 10.1210/jc.2014-1506] [Cited by in Crossref: 67] [Cited by in F6Publishing: 60] [Article Influence: 8.4] [Reference Citation Analysis]
12 Guo MH, Shen Y, Walvoord EC, Miller TC, Moon JE, Hirschhorn JN, Dauber A. Whole exome sequencing to identify genetic causes of short stature. Horm Res Paediatr 2014;82:44-52. [PMID: 24970356 DOI: 10.1159/000360857] [Cited by in Crossref: 47] [Cited by in F6Publishing: 37] [Article Influence: 5.9] [Reference Citation Analysis]
13 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. Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. J Mol Endocrinol 2012;49:267-75. [PMID: 23018678 DOI: 10.1530/JME-12-0034] [Cited by in Crossref: 34] [Cited by in F6Publishing: 15] [Article Influence: 3.4] [Reference Citation Analysis]
14 Yang M, Patni N. Effect of recombinant human insulin-like growth factor 1 therapy in a child with 3-M syndrome-1 with CUL7 gene mutation. J Pediatr Endocrinol Metab 2020;33:1609-12. [PMID: 32924381 DOI: 10.1515/jpem-2020-0278] [Reference Citation Analysis]
15 Al Herbish AS, Almutair A, Bin Abbas B, Alsagheir A, Alqahtani M, Kaplan W, Deeb A, El-Awwa A, Al Khawari M, Koledova E, Savage MO. Diagnosis and management of growth disorders in Gulf Cooperation Council (GCC) countries: Current procedures and key recommendations for best practice. Int J Pediatr Adolesc Med 2016;3:91-102. [PMID: 30805477 DOI: 10.1016/j.ijpam.2016.07.002] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.5] [Reference Citation Analysis]
16 Zanini IM, Soneson C, Lorenzi LE, Azzalin CM. Human cactin interacts with DHX8 and SRRM2 to assure efficient pre-mRNA splicing and sister chromatid cohesion. J Cell Sci 2017;130:767-78. [PMID: 28062851 DOI: 10.1242/jcs.194068] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 2.0] [Reference Citation Analysis]
17 Jiang X, Jia X, Sun J, Qi C, Lu L, Wang Y, Zhang L, Wei M. Overexpressed coiled-coil domain containing protein 8 (CCDC8) mediates newly synthesized HIV-1 Gag lysosomal degradation. Sci Rep 2020;10:11416. [PMID: 32651437 DOI: 10.1038/s41598-020-68341-3] [Reference Citation Analysis]
18 Legendre CR, Demeure MJ, Whitsett TG, Gooden GC, Bussey KJ, Jung S, Waibhav T, Kim S, Salhia B. Pathway Implications of Aberrant Global Methylation in Adrenocortical Cancer. PLoS One 2016;11:e0150629. [PMID: 26963385 DOI: 10.1371/journal.pone.0150629] [Cited by in Crossref: 24] [Cited by in F6Publishing: 21] [Article Influence: 4.0] [Reference Citation Analysis]
19 Hu L, Wang X, Jin T, Han Y, Liu J, Jiang M, Yan S, Fu X, An B, Huang S. Identification of two CUL7 variants in two Chinese families with 3-M syndrome by whole-exome sequencing. J Clin Lab Anal 2020;34:e23265. [PMID: 32141654 DOI: 10.1002/jcla.23265] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
20 Takatani T, Shiohama T, Takatani R, Shimojo N. A novel CUL7 mutation in a Japanese patient with 3M syndrome. Hum Genome Var 2018;5:30. [PMID: 30374406 DOI: 10.1038/s41439-018-0029-3] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
21 Wang P, Yan F, Li Z, Yu Y, Parnell SE, Xiong Y. Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development. J Clin Invest 2019;129:4393-407. [PMID: 31343991 DOI: 10.1172/JCI129107] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
22 Keskin M, Muratoğlu Şahin N, Kurnaz E, Bayramoğlu E, Savaş Erdeve Ş, Aycan Z, Çetinkaya S. A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene. J Clin Res Pediatr Endocrinol 2017;9:91-4. [PMID: 27796265 DOI: 10.4274/jcrpe.3238] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 1.3] [Reference Citation Analysis]
23 Azzi S, Salem J, Thibaud N, Chantot-Bastaraud S, Lieber E, Netchine I, Harbison MD. A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome. J Med Genet 2015;52:446-53. [PMID: 25951829 DOI: 10.1136/jmedgenet-2014-102979] [Cited by in Crossref: 106] [Cited by in F6Publishing: 93] [Article Influence: 15.1] [Reference Citation Analysis]
24 Storr HL, Dunkel L, Kowalczyk J, Savage MO, Metherell LA. Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation. Eur J Endocrinol 2015;172:151-61. [PMID: 25411237 DOI: 10.1530/EJE-14-0541] [Cited by in Crossref: 15] [Cited by in F6Publishing: 7] [Article Influence: 1.9] [Reference Citation Analysis]
25 Cruz Walma DA, Chen Z, Bullock AN, Yamada KM. Ubiquitin ligases: guardians of mammalian development. Nat Rev Mol Cell Biol. [DOI: 10.1038/s41580-021-00448-5] [Reference Citation Analysis]
26 Wit JM, Oostdijk W, Losekoot M, van Duyvenvoorde HA, Ruivenkamp CAL, Kant SG. MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature. European Journal of Endocrinology 2016;174:R145-73. [DOI: 10.1530/eje-15-0937] [Cited by in Crossref: 75] [Cited by in F6Publishing: 40] [Article Influence: 12.5] [Reference Citation Analysis]
27 Invitto S, Grasso A, Lofrumento DD, Ciccarese V, Paladini A, Paladini P, Marulli R, Pascalis V, Polsinelli M, Placidi G. Chemosensory Event-Related Potentials and Power Spectrum could be A Possible Biomarker in 3M Syndrome Infants? Brain Sci 2020;10:E201. [PMID: 32235515 DOI: 10.3390/brainsci10040201] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
28 Kumpf M, Hämäläinen RH, Hofbeck M, Baden W. Refractory congestive heart failure following delayed pericardectomy in a 12-year-old child with Mulibrey nanism due to a novel mutation in TRIM37. Eur J Pediatr 2013;172:1415-8. [PMID: 23385855 DOI: 10.1007/s00431-013-1962-2] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 0.8] [Reference Citation Analysis]
29 Shaikh S, Shettigar SKG, Kumar S, Kantharia S, Kurva J, Cherian S. Novel mutation in Cul7 gene in a family diagnosed with 3M syndrome. J Genet 2019;98. [DOI: 10.1007/s12041-019-1057-6] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
30 Isik E, Arican D, Atik T, Ooi JE, Darcan S, Ozen S, Simsek Kiper PO, Utine E, Cogulu O, Ozkinay F. A rare cause of syndromic short stature: 3M syndrome in three families. Am J Med Genet A 2021;185:461-8. [PMID: 33258289 DOI: 10.1002/ajmg.a.61989] [Reference Citation Analysis]
31 Tüysüz B, Alp Ünkar Z, Turan H, Gezdirici A, Uludağ Alkaya D, Kasap B, Yeşil G, Vural M, Ercan O. Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants. Eur J Med Genet 2021;64:104346. [PMID: 34597859 DOI: 10.1016/j.ejmg.2021.104346] [Reference Citation Analysis]
32 Yang LL, Liang SS. Study on pathogenic genes of dwarfism disease by next-generation sequencing. World J Clin Cases 2021; 9(7): 1600-1609 [PMID: 33728303 DOI: 10.12998/wjcc.v9.i7.1600] [Reference Citation Analysis]
33 Khachnaoui-Zaafrane K, Ouertani I, Zanati A, Kandara H, Maazoul F, Mrad R. 3M syndrome: A Tunisian seven-cases series. Eur J Med Genet 2022;:104448. [PMID: 35150935 DOI: 10.1016/j.ejmg.2022.104448] [Reference Citation Analysis]
34 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. Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. Am J Med Genet A 2019;179:1157-72. [PMID: 30980518 DOI: 10.1002/ajmg.a.61154] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.7] [Reference Citation Analysis]
35 Mozzillo E, Cozzolino C, Genesio R, Melis D, Frisso G, Orrico A, Lombardo B, Fattorusso V, Discepolo V, Della Casa R, Simonelli F, Nitsch L, Salvatore F, Franzese A. Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing. Am J Med Genet A 2016;170:2196-9. [PMID: 27256967 DOI: 10.1002/ajmg.a.37770] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.7] [Reference Citation Analysis]
36 Woolley SA, Hayes SE, Shariflou MR, Nicholas FW, Willet CE, O'Rourke BA, Tammen I. Molecular basis of a new ovine model for human 3M syndrome-2. BMC Genet 2020;21:106. [PMID: 32933480 DOI: 10.1186/s12863-020-00913-8] [Reference Citation Analysis]
37 Finken MJJ, van der Steen M, Smeets CCJ, Walenkamp MJE, de Bruin C, Hokken-Koelega ACS, Wit JM. Children Born Small for Gestational Age: Differential Diagnosis, Molecular Genetic Evaluation, and Implications. Endocr Rev 2018;39:851-94. [PMID: 29982551 DOI: 10.1210/er.2018-00083] [Cited by in Crossref: 35] [Cited by in F6Publishing: 35] [Article Influence: 11.7] [Reference Citation Analysis]
38 Lee IK, Lim HH, Kim YM. The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings. Yonsei Med J 2020;61:981-5. [PMID: 33107243 DOI: 10.3349/ymj.2020.61.11.981] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
39 Tsiotou AG, Malisiova A, Kalliardou E. Anaesthesia and orphan disease: the child with 3M syndrome. Eur J Anaesthesiol 2012;29:598-600. [PMID: 23080434 DOI: 10.1097/EJA.0b013e32835a9a6c] [Reference Citation Analysis]
40 Storr HL, Chatterjee S, Metherell LA, Foley C, Rosenfeld RG, Backeljauw PF, Dauber A, Savage MO, Hwa V. Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action. Endocr Rev 2019;40:476-505. [PMID: 30265312 DOI: 10.1210/er.2018-00146] [Cited by in Crossref: 17] [Cited by in F6Publishing: 17] [Article Influence: 5.7] [Reference Citation Analysis]