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Items: 1 to 20 of 137

1.

Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex.

Batsukh T, Schulz Y, Wolf S, Rabe TI, Oellerich T, Urlaub H, Schaefer IM, Pauli S.

PLoS One. 2012;7(12):e52640. doi: 10.1371/journal.pone.0052640. Epub 2012 Dec 21.

2.

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.

Batsukh T, Pieper L, Koszucka AM, von Velsen N, Hoyer-Fender S, Elbracht M, Bergman JE, Hoefsloot LH, Pauli S.

Hum Mol Genet. 2010 Jul 15;19(14):2858-66. doi: 10.1093/hmg/ddq189. Epub 2010 May 7.

3.

CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis.

Zentner GE, Hurd EA, Schnetz MP, Handoko L, Wang C, Wang Z, Wei C, Tesar PJ, Hatzoglou M, Martin DM, Scacheri PC.

Hum Mol Genet. 2010 Sep 15;19(18):3491-501. doi: 10.1093/hmg/ddq265. Epub 2010 Jun 29.

4.

Mutation update on the CHD7 gene involved in CHARGE syndrome.

Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH.

Hum Mutat. 2012 Aug;33(8):1149-60. doi: 10.1002/humu.22086. Epub 2012 Apr 16. Review.

PMID:
22461308
5.

CHD7 cooperates with PBAF to control multipotent neural crest formation.

Bajpai R, Chen DA, Rada-Iglesias A, Zhang J, Xiong Y, Helms J, Chang CP, Zhao Y, Swigut T, Wysocka J.

Nature. 2010 Feb 18;463(7283):958-62. doi: 10.1038/nature08733. Epub 2010 Feb 3.

6.

Knockdown of fbxl10/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndrome.

Balow SA, Pierce LX, Zentner GE, Conrad PA, Davis S, Sabaawy HE, McDermott BM Jr, Scacheri PC.

Dev Biol. 2013 Oct 1;382(1):57-69. doi: 10.1016/j.ydbio.2013.07.026. Epub 2013 Aug 3.

7.

CHARGE and Kabuki syndromes: a phenotypic and molecular link.

Schulz Y, Freese L, Mänz J, Zoll B, Völter C, Brockmann K, Bögershausen N, Becker J, Wollnik B, Pauli S.

Hum Mol Genet. 2014 Aug 15;23(16):4396-405. doi: 10.1093/hmg/ddu156. Epub 2014 Apr 4.

8.

Identification and characterization of a novel component of the human minichromosome maintenance complex.

Sakwe AM, Nguyen T, Athanasopoulos V, Shire K, Frappier L.

Mol Cell Biol. 2007 Apr;27(8):3044-55. Epub 2007 Feb 12.

9.

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.

Schulz Y, Wehner P, Opitz L, Salinas-Riester G, Bongers EM, van Ravenswaaij-Arts CM, Wincent J, Schoumans J, Kohlhase J, Borchers A, Pauli S.

Hum Genet. 2014 Aug;133(8):997-1009. doi: 10.1007/s00439-014-1444-2. Epub 2014 Apr 13.

PMID:
24728844
10.

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.

Sugathan A, Biagioli M, Golzio C, Erdin S, Blumenthal I, Manavalan P, Ragavendran A, Brand H, Lucente D, Miles J, Sheridan SD, Stortchevoi A, Kellis M, Haggarty SJ, Katsanis N, Gusella JF, Talkowski ME.

Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4468-77. doi: 10.1073/pnas.1405266111. Epub 2014 Oct 7.

11.

Role of Chd7 in zebrafish: a model for CHARGE syndrome.

Patten SA, Jacobs-McDaniels NL, Zaouter C, Drapeau P, Albertson RC, Moldovan F.

PLoS One. 2012;7(2):e31650. doi: 10.1371/journal.pone.0031650. Epub 2012 Feb 20.

12.

CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression.

Schnetz MP, Handoko L, Akhtar-Zaidi B, Bartels CF, Pereira CF, Fisher AG, Adams DJ, Flicek P, Crawford GE, Laframboise T, Tesar P, Wei CL, Scacheri PC.

PLoS Genet. 2010 Jul 15;6(7):e1001023. doi: 10.1371/journal.pgen.1001023.

13.

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, Layman LC.

Am J Hum Genet. 2008 Oct;83(4):511-9. doi: 10.1016/j.ajhg.2008.09.005. Epub 2008 Oct 2.

14.

The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Kim HG, Layman LC.

Mol Cell Endocrinol. 2011 Oct 22;346(1-2):74-83. doi: 10.1016/j.mce.2011.07.013. Epub 2011 Aug 2. Review.

15.

Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders.

Bouazoune K, Kingston RE.

Proc Natl Acad Sci U S A. 2012 Nov 20;109(47):19238-43. doi: 10.1073/pnas.1213825109. Epub 2012 Nov 7.

16.

Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns.

Schnetz MP, Bartels CF, Shastri K, Balasubramanian D, Zentner GE, Balaji R, Zhang X, Song L, Wang Z, Laframboise T, Crawford GE, Scacheri PC.

Genome Res. 2009 Apr;19(4):590-601. doi: 10.1101/gr.086983.108. Epub 2009 Feb 27.

17.

Identification of CHD7S as a novel splicing variant of CHD7 with functions similar and antagonistic to those of the full-length CHD7L.

Kita Y, Nishiyama M, Nakayama KI.

Genes Cells. 2012 Jul;17(7):536-47. doi: 10.1111/j.1365-2443.2012.01606.x. Epub 2012 May 31.

18.

PTIP, a novel BRCT domain-containing protein interacts with Pax2 and is associated with active chromatin.

Lechner MS, Levitan I, Dressler GR.

Nucleic Acids Res. 2000 Jul 15;28(14):2741-51.

19.

Identification of one novel CHD7 mutation in a patient from China with atypical CHARGE syndrome.

Cheng J, Ma D, Wu Y, Luo C, Huang C, Hu P, Zhang J, Jiang T, Xu Z.

Gene. 2015 Oct 25;571(2):298-302. doi: 10.1016/j.gene.2015.07.042. Epub 2015 Jul 15.

PMID:
26187070
20.

Genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome.

Cho HJ, Song MH, Choi SY, Kim J, Lee J, Kim UK, Bok J, Choi JY.

Gene. 2013 Apr 1;517(2):164-8. doi: 10.1016/j.gene.2013.01.010. Epub 2013 Jan 17.

PMID:
23333604
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