Page 133 - 2022-24-中国全科医学
P. 133

·3074· http://www.chinagp.net   E-mail:zgqkyx@chinagp.net.cn


           [6]SCHORRY E K,KEDDACHE M,LANPHEAR N,et al. Genotype-  [18]PARK E,KIM Y,RYU H,et al. Epigenetic mechanisms of
               phenotype correlations in Rubinstein-Taybi syndrome[J].   Rubinstein-Taybi syndrome[J]. Neuromolecular Med,2014,16
               Am J Med Genet A,2008,146A(19):2512-2519. DOI:       (1):16-24. DOI:10.1007/s12017-013-8285-3.
               10.1002/ajmg.a.32424.                           [19]BEDFORD D C,BRINDLE P K. Is histone acetylation the most
           [7]BENTIVEGNA  A,MILANI  D,GERVASINI  C,et  al.          important physiological function for CBP and p300? [J]. Aging,
               Rubinstein-Taybi Syndrome:spectrum of CREBBP mutations in   2012,4(4):247-255. DOI:10.18632/aging.100453.
               Italian patients[J]. BMC Med Genet,2006,7:77. DOI:  [20]KORZUS  E.  Rubinstein-Taybi  syndrome  and  epigenetic
               10.1186/1471-2350-7-77.                              alterations[J]. Adv Exp Med Biol,2017,978:39-62. DOI:
           [8]WINCENT J,LUTHMAN A,VAN BELZEN M,et al. CREBBP        10.1007/978-3-319-53889-1_3.
               and EP300 mutational spectrum and clinical presentations in a cohort   [21]ALARI V,RUSSO S,TERRAGNI B,et al. iPSC-derived neurons
               of Swedish patients with Rubinstein-Taybi syndrome[J]. Mol Genet   of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome
               Genomic Med,2015,4(1):39-45. DOI:10.1002/mgg3.177.   patients show morphological alterations and hypoexcitability[J].
           [9]NEGRI G,MILANI D,COLAPIETRO P,et al. Clinical and     Stem  Cell  Res,2018,30:130-140.  DOI:10.1016/j.
               molecular characterization of Rubinstein-Taybi syndrome patients   scr.2018.05.019.
               carrying distinct novel mutations of the EP300 gene[J]. Clin   [22]CALZARI L,BARCELLA M,ALARI V,et al. Transcriptome
               Genet,2015,87(2):148-154. DOI:10.1111/cge.12348.     analysis of iPSC-derived neurons from Rubinstein-Taybi patients
           [10]BARTHOLDI  D,ROELFSEMA  J  H,PAPADIA  F,et  al.      reveals deficits in neuronal differentiation[J]. Mol Neurobiol,
               Genetic heterogeneity in Rubinstein-Taybi syndrome:delineation   2020,57(9):3685-3701. DOI:10.1007/s12035-020-
               of the phenotype of the first patients carrying mutations in   01983-6.
               EP300[J]. J Med Genet,2007,44(5):327-333. DOI:  [23]ALARI  V,SCALMANI  P,AJMONE  P  F,et  al.  Histone
               10.1136/jmg.2006.046698.                             deacetylase inhibitors ameliorate morphological defects and
           [11]NEGRI G,MAGINI P,MILANI D,et al. From whole gene     hypoexcitability  of  iPSC-neurons  from  Rubinstein-Taybi
               deletion to point mutations of EP300-positive Rubinstein-Taybi   patients[J]. Int J Mol Sci,2021,22(11):5777. DOI:
               patients:new insights into the mutational spectrum and peculiar   10.3390/ijms22115777.
               clinical hallmarks[J]. Hum Mutat,2016,37(2):175-183.   [24]DI FEDE E,OTTAVIANO E,GRAZIOLI P,et al. Insights
               DOI:10.1002/humu.22922.                              into the role of the microbiota and of short-chain fatty acids in
           [12]SPENA S,GERVASINI C,MILANI D. Ultra-rare syndromes:  Rubinstein-Taybi syndrome[J]. Int J Mol Sci,2021,22(7):
               the example of Rubinstein-Taybi syndrome[J]. J Pediatr Genet,  3621. DOI:10.3390/ijms22073621.
               2015,4(3):177-186. DOI:10.1055/s-0035-1564571.  [25]BABU A,KAMARAJ M,BASU M,et al. Chemical and genetic
           [13]RUSCONI D,NEGRI G,COLAPIETRO P,et al. Characterization   rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome
               of 14 novel deletions underlying Rubinstein-Taybi syndrome:  in zebrafish[J]. Biochim Biophys Acta Mol Basis Dis,2018,1864(4
               an update of the CREBBP deletion repertoire[J]. Hum Genet,  Pt A):1203-1215. DOI:10.1016/j.bbadis.2018.01.029.
               2015,134(6):613-626. DOI:10.1007/s00439-015-1542-9.   [26]CROSS E,DUNCAN-FLAVELL P J,HOWARTH R J,et al.
           [14]FERGELOT P,VAN BELZEN M,VAN GILS J,et al. Phenotype   Screening of a large Rubinstein-Taybi cohort identified many novel
               and genotype in 52 patients with Rubinstein-Taybi syndrome caused   variants and emphasizes the importance of the CREBBP histone
               by EP300 mutations[J]. Am J Med Genet A,2016,170(12):  acetyltransferase domain[J]. Am J Med Genet A,2020,182(11):
               3069-3082. DOI:10.1002/ajmg.a.37940.                 2508-2520. DOI:10.1002/ajmg.a.61813.
           [15]RAMOS Y F,HESTAND M S,VERLAAN M,et al. Genome-  [27]PÉREZ-GRIJALBA V,GARCÍA-OGUIZA A,LÓPEZ M,et al.
               wide  assessment  of  differential  roles  for  p300  and  CBP  in   New insights into genetic variant spectrum and genotype-phenotype
               transcription regulation[J]. Nucleic Acids Res,2010,38(16):  correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive
               5396-5408. DOI:10.1093/nar/gkq184.                   patients[J]. Mol Genet Genomic Med,2019,7(11):e972.
           [16]LIPINSKI M,DEL BLANCO B,BARCO A. CBP/p300 in brain   DOI:10.1002/mgg3.972.
               development and plasticity:disentangling the KAT's cradle[J].   [28]SPENA S,MILANI D,RUSCONI D,et al. Insights into genotype-
               Curr  Opin  Neurobiol,2019,59:1-8.  DOI:10.1016/j.   phenotype correlations from CREBBP point mutation screening
               conb.2019.01.023.                                    in a cohort of 46 Rubinstein-Taybi syndrome patients[J]. Clin
           [17]KALKHOVEN E. CBP and p300:hats for different occasions[J].   Genet,2015,88(5):431-440. DOI:10.1111/cge.12537.
               Biochem  Pharmacol,2004,68(6):1145-1155.  DOI:             (收稿日期:2022-03-04;修回日期:2022-05-16)
               10.1016/j.bcp.2004.03.045.                                                        (本文编辑:程圣)
   128   129   130   131   132   133