-
1
-
-
84884416457
-
Rare-disease genetics in the era of next-generation sequencing: discovery to translation
-
Boycott K.M., et al. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat. Rev. Genet. 2013, 14:681-691.
-
(2013)
Nat. Rev. Genet.
, vol.14
, pp. 681-691
-
-
Boycott, K.M.1
-
2
-
-
4444239112
-
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
-
Vissers L.E., et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat. Genet. 2004, 36:955-957.
-
(2004)
Nat. Genet.
, vol.36
, pp. 955-957
-
-
Vissers, L.E.1
-
3
-
-
84930469938
-
Opposing ISWI- and CHD-class chromatin remodeling activities orchestrate heterochromatic DNA repair
-
Klement K., et al. Opposing ISWI- and CHD-class chromatin remodeling activities orchestrate heterochromatic DNA repair. J. Cell Biol. 2014, 207:717-733.
-
(2014)
J. Cell Biol.
, vol.207
, pp. 717-733
-
-
Klement, K.1
-
4
-
-
84879882585
-
CHARGE syndrome
-
University of Washington, R.A. Pagon (Ed.)
-
Lalani S.R., et al. CHARGE syndrome. GeneReviews 2012, University of Washington. R.A. Pagon (Ed.).
-
(2012)
GeneReviews
-
-
Lalani, S.R.1
-
5
-
-
33645781251
-
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
-
Jongmans M.C., et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J. Med. Genet. 2006, 43:306-314.
-
(2006)
J. Med. Genet.
, vol.43
, pp. 306-314
-
-
Jongmans, M.C.1
-
6
-
-
31544463054
-
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation
-
Lalani S.R., et al. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am. J. Hum. Genet. 2006, 78:303-314.
-
(2006)
Am. J. Hum. Genet.
, vol.78
, pp. 303-314
-
-
Lalani, S.R.1
-
7
-
-
77649225132
-
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome
-
Zentner G.E., et al. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. Am. J. Med. Genet. 2010, 152A:674-686.
-
(2010)
Am. J. Med. Genet.
, vol.152A
, pp. 674-686
-
-
Zentner, G.E.1
-
8
-
-
79955538630
-
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype
-
Bergman J.E., et al. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J. Med. Genet. 2011, 48:334-342.
-
(2011)
J. Med. Genet.
, vol.48
, pp. 334-342
-
-
Bergman, J.E.1
-
9
-
-
0031892284
-
CHARGE association: an update and review for the primary pediatrician
-
Blake K.D., et al. CHARGE association: an update and review for the primary pediatrician. Clin. Pediatr. 1998, 37:159-173.
-
(1998)
Clin. Pediatr.
, vol.37
, pp. 159-173
-
-
Blake, K.D.1
-
10
-
-
14344262552
-
Updated diagnostic criteria for CHARGE syndrome: a proposal
-
Verloes A. Updated diagnostic criteria for CHARGE syndrome: a proposal. Am. J. Med. Genet. 2005, 133A:306-308.
-
(2005)
Am. J. Med. Genet.
, vol.133A
, pp. 306-308
-
-
Verloes, A.1
-
11
-
-
37549039003
-
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability
-
Jongmans M.C., et al. Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. Am. J. Med. Genet. 2008, 146A:43-50.
-
(2008)
Am. J. Med. Genet.
, vol.146A
, pp. 43-50
-
-
Jongmans, M.C.1
-
12
-
-
65449121473
-
Proven germline mosaicism in a father of two children with CHARGE syndrome
-
Pauli S., et al. Proven germline mosaicism in a father of two children with CHARGE syndrome. Clin. Genet. 2009, 75:473-479.
-
(2009)
Clin. Genet.
, vol.75
, pp. 473-479
-
-
Pauli, S.1
-
13
-
-
84863872703
-
Mutation update on the CHD7 gene involved in CHARGE syndrome
-
Janssen N., et al. Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum. Mutat. 2012, 33:1149-1160.
-
(2012)
Hum. Mutat.
, vol.33
, pp. 1149-1160
-
-
Janssen, N.1
-
14
-
-
77956096768
-
CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis
-
Zentner G.E., et al. CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis. Hum. Mol. Genet. 2010, 19:3491-3501.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 3491-3501
-
-
Zentner, G.E.1
-
15
-
-
84863875415
-
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome
-
Bergman J.E., et al. A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. Hum. Mutat. 2012, 33:1251-1260.
-
(2012)
Hum. Mutat.
, vol.33
, pp. 1251-1260
-
-
Bergman, J.E.1
-
16
-
-
78650405822
-
Mutations in the CHD7 gene: the experience of a commercial laboratory
-
Bartels C.F., et al. Mutations in the CHD7 gene: the experience of a commercial laboratory. Genet. Test. Mol. Biomarkers 2010, 14:881-891.
-
(2010)
Genet. Test. Mol. Biomarkers
, vol.14
, pp. 881-891
-
-
Bartels, C.F.1
-
17
-
-
16544384819
-
SEMA3E mutation in a patient with CHARGE syndrome
-
Lalani S.R., et al. SEMA3E mutation in a patient with CHARGE syndrome. J. Med. Genet. 2004, 41:e94.
-
(2004)
J. Med. Genet.
, vol.41
, pp. e94
-
-
Lalani, S.R.1
-
18
-
-
19944430075
-
Semaphorin 3E and plexin-D1 control vascular pattern independently of neuropilins
-
Gu C., et al. Semaphorin 3E and plexin-D1 control vascular pattern independently of neuropilins. Science 2005, 307:265-268.
-
(2005)
Science
, vol.307
, pp. 265-268
-
-
Gu, C.1
-
19
-
-
84880015665
-
More clinical overlap between 22q11.2 deletion syndrome and CHARGE syndrome than often anticipated
-
Corsten-Janssen N., et al. More clinical overlap between 22q11.2 deletion syndrome and CHARGE syndrome than often anticipated. Mol. Syndromol. 2013, 4:235-245.
-
(2013)
Mol. Syndromol.
, vol.4
, pp. 235-245
-
-
Corsten-Janssen, N.1
-
20
-
-
84857376984
-
CHARGE syndrome with del(3)(p13p21): expanding the genotype
-
Moustafa-Hawash N., et al. CHARGE syndrome with del(3)(p13p21): expanding the genotype. Isr. Med. Assoc. J. 2012, 14:133-134.
-
(2012)
Isr. Med. Assoc. J.
, vol.14
, pp. 133-134
-
-
Moustafa-Hawash, N.1
-
21
-
-
84910594695
-
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes
-
Snijders Blok C., et al. Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes. Am. J. Med. Genet. 2014, 164A:2843-2848.
-
(2014)
Am. J. Med. Genet.
, vol.164A
, pp. 2843-2848
-
-
Snijders Blok, C.1
-
22
-
-
84878981162
-
Potential teratogenicity of methimazole: exposure of zebrafish embryos to methimazole causes similar developmental anomalies to human methimazole embryopathy
-
Komoike Y., et al. Potential teratogenicity of methimazole: exposure of zebrafish embryos to methimazole causes similar developmental anomalies to human methimazole embryopathy. Birth Defects Res. B 2013, 98:222-229.
-
(2013)
Birth Defects Res. B
, vol.98
, pp. 222-229
-
-
Komoike, Y.1
-
23
-
-
84886305934
-
Balancing chromatin remodeling and histone modifications in transcription
-
Petty E., Pillus L. Balancing chromatin remodeling and histone modifications in transcription. Trends Genet. 2013, 29:621-629.
-
(2013)
Trends Genet.
, vol.29
, pp. 621-629
-
-
Petty, E.1
Pillus, L.2
-
24
-
-
84899620204
-
The nucleosomal barrier to promoter escape by RNA polymerase II is overcome by the chromatin remodeler Chd1
-
Skene P.J., et al. The nucleosomal barrier to promoter escape by RNA polymerase II is overcome by the chromatin remodeler Chd1. Elife 2014, 3:e02042.
-
(2014)
Elife
, vol.3
, pp. e02042
-
-
Skene, P.J.1
-
25
-
-
84869843919
-
Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders
-
Bouazoune K., Kingston R.E. Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders. Proc. Natl. Acad. Sci. U.S.A. 2012, 109:19238-19243.
-
(2012)
Proc. Natl. Acad. Sci. U.S.A.
, vol.109
, pp. 19238-19243
-
-
Bouazoune, K.1
Kingston, R.E.2
-
26
-
-
18344410319
-
DMi-2 and ISWI chromatin remodelling factors have distinct nucleosome binding and mobilization properties
-
Brehm A., et al. dMi-2 and ISWI chromatin remodelling factors have distinct nucleosome binding and mobilization properties. EMBO J. 2000, 19:4332-4341.
-
(2000)
EMBO J.
, vol.19
, pp. 4332-4341
-
-
Brehm, A.1
-
27
-
-
0037370303
-
Evidence for DNA translocation by the ISWI chromatin-remodeling enzyme
-
Whitehouse I., et al. Evidence for DNA translocation by the ISWI chromatin-remodeling enzyme. Mol. Cell. Biol. 2003, 23:1935-1945.
-
(2003)
Mol. Cell. Biol.
, vol.23
, pp. 1935-1945
-
-
Whitehouse, I.1
-
28
-
-
83255185775
-
Extranucleosomal DNA binding directs nucleosome sliding by Chd1
-
McKnight J.N., et al. Extranucleosomal DNA binding directs nucleosome sliding by Chd1. Mol. Cell. Biol. 2011, 31:4746-4759.
-
(2011)
Mol. Cell. Biol.
, vol.31
, pp. 4746-4759
-
-
McKnight, J.N.1
-
29
-
-
33845356072
-
The chromatin-remodeling enzyme ACF is an ATP-dependent DNA length sensor that regulates nucleosome spacing
-
Yang J.G., et al. The chromatin-remodeling enzyme ACF is an ATP-dependent DNA length sensor that regulates nucleosome spacing. Nat. Struct. Mol. Biol. 2006, 13:1078-1083.
-
(2006)
Nat. Struct. Mol. Biol.
, vol.13
, pp. 1078-1083
-
-
Yang, J.G.1
-
30
-
-
64149122182
-
Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns
-
Schnetz M.P., et al. Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns. Genome Res. 2009, 19:590-601.
-
(2009)
Genome Res.
, vol.19
, pp. 590-601
-
-
Schnetz, M.P.1
-
31
-
-
77957344798
-
CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression
-
Schnetz M.P., et al. CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression. PLoS Genet. 2010, 6:e1001023.
-
(2010)
PLoS Genet.
, vol.6
, pp. e1001023
-
-
Schnetz, M.P.1
-
32
-
-
77249117148
-
CHD7 cooperates with PBAF to control multipotent neural crest formation
-
Bajpai R., et al. CHD7 cooperates with PBAF to control multipotent neural crest formation. Nature 2010, 463:958-962.
-
(2010)
Nature
, vol.463
, pp. 958-962
-
-
Bajpai, R.1
-
33
-
-
84884498837
-
The chromatin remodeler CHD7 regulates adult neurogenesis via activation of SoxC transcription factors
-
Feng W., et al. The chromatin remodeler CHD7 regulates adult neurogenesis via activation of SoxC transcription factors. Cell Stem Cell 2013, 13:62-72.
-
(2013)
Cell Stem Cell
, vol.13
, pp. 62-72
-
-
Feng, W.1
-
34
-
-
77956522905
-
The chromodomains of the Chd1 chromatin remodeler regulate DNA access to the ATPase motor
-
Hauk G., et al. The chromodomains of the Chd1 chromatin remodeler regulate DNA access to the ATPase motor. Mol. Cell 2010, 39:711-723.
-
(2010)
Mol. Cell
, vol.39
, pp. 711-723
-
-
Hauk, G.1
-
35
-
-
84904418415
-
CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance
-
Schulz Y., et al. CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance. Hum. Genet. 2014, 133:997-1009.
-
(2014)
Hum. Genet.
, vol.133
, pp. 997-1009
-
-
Schulz, Y.1
-
36
-
-
84908209938
-
Architects of the genome: CHD dysfunction in cancer, developmental disorders and neurological syndromes
-
Li W., Mills A.A. Architects of the genome: CHD dysfunction in cancer, developmental disorders and neurological syndromes. Epigenomics 2014, 6:381-395.
-
(2014)
Epigenomics
, vol.6
, pp. 381-395
-
-
Li, W.1
Mills, A.A.2
-
37
-
-
55449092929
-
Drosophila Kismet regulates histone H3 lysine 27 methylation and early elongation by RNA polymerase II
-
Srinivasan S., et al. Drosophila Kismet regulates histone H3 lysine 27 methylation and early elongation by RNA polymerase II. PLoS Genet. 2008, 4:e1000217.
-
(2008)
PLoS Genet.
, vol.4
, pp. e1000217
-
-
Srinivasan, S.1
-
38
-
-
84884931891
-
The trithorax group proteins Kismet and ASH1 promote H3K36 dimethylation to counteract Polycomb group repression in Drosophila
-
Dorighi K.M., Tamkun J.W. The trithorax group proteins Kismet and ASH1 promote H3K36 dimethylation to counteract Polycomb group repression in Drosophila. Development 2013, 140:4182-4192.
-
(2013)
Development
, vol.140
, pp. 4182-4192
-
-
Dorighi, K.M.1
Tamkun, J.W.2
-
39
-
-
77952573731
-
Ash2l interacts with Tbx1 and is required during early embryogenesis
-
Stoller J.Z., et al. Ash2l interacts with Tbx1 and is required during early embryogenesis. Exp. Biol. Med. 2010, 235:569-576.
-
(2010)
Exp. Biol. Med.
, vol.235
, pp. 569-576
-
-
Stoller, J.Z.1
-
40
-
-
84895779640
-
The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes
-
Subtil-Rodriguez A., et al. The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes. Nucleic Acids Res. 2014, 42:2185-2196.
-
(2014)
Nucleic Acids Res.
, vol.42
, pp. 2185-2196
-
-
Subtil-Rodriguez, A.1
-
41
-
-
77649275506
-
Regulation of HOXA2 gene expression by the ATP-dependent chromatin remodeling enzyme CHD8
-
Yates J.A., et al. Regulation of HOXA2 gene expression by the ATP-dependent chromatin remodeling enzyme CHD8. FEBS Lett. 2010, 584:689-693.
-
(2010)
FEBS Lett.
, vol.584
, pp. 689-693
-
-
Yates, J.A.1
-
42
-
-
84929758499
-
CHD6 regulates the topological arrangement of the CFTR locus
-
Sancho A., et al. CHD6 regulates the topological arrangement of the CFTR locus. Hum. Mol. Genet. 2015, 24:2724-2732.
-
(2015)
Hum. Mol. Genet.
, vol.24
, pp. 2724-2732
-
-
Sancho, A.1
-
43
-
-
84924567722
-
The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment
-
Cotney J., et al. The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment. Nat. Commun. 2015, 6:6404.
-
(2015)
Nat. Commun.
, vol.6
, pp. 6404
-
-
Cotney, J.1
-
44
-
-
84908065133
-
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors
-
Sugathan A., et al. CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. Proc. Natl. Acad. Sci. U.S.A. 2014, 111:E4468-E4477.
-
(2014)
Proc. Natl. Acad. Sci. U.S.A.
, vol.111
, pp. E4468-E4477
-
-
Sugathan, A.1
-
45
-
-
84935024270
-
The tumor suppressor CHD5 forms a NuRD-type chromatin remodeling complex
-
Kolla V., et al. The tumor suppressor CHD5 forms a NuRD-type chromatin remodeling complex. Biochem. J. 2015, 468:345-352.
-
(2015)
Biochem. J.
, vol.468
, pp. 345-352
-
-
Kolla, V.1
-
46
-
-
34547856653
-
The human Mi-2/NuRD complex and gene regulation
-
Denslow S.A., Wade P.A. The human Mi-2/NuRD complex and gene regulation. Oncogene 2007, 26:5433-5438.
-
(2007)
Oncogene
, vol.26
, pp. 5433-5438
-
-
Denslow, S.A.1
Wade, P.A.2
-
47
-
-
84881540507
-
CHD5 is required for neurogenesis and has a dual role in facilitating gene expression and polycomb gene repression
-
Egan C.M., et al. CHD5 is required for neurogenesis and has a dual role in facilitating gene expression and polycomb gene repression. Dev. Cell 2013, 26:223-236.
-
(2013)
Dev. Cell
, vol.26
, pp. 223-236
-
-
Egan, C.M.1
-
48
-
-
84907602233
-
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients
-
Marcos S., et al. The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. J. Clin. Endocrinol. Metab. 2014, 99:E2138-E2143.
-
(2014)
J. Clin. Endocrinol. Metab.
, vol.99
, pp. E2138-E2143
-
-
Marcos, S.1
-
49
-
-
70449360736
-
Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice
-
Randall V., et al. Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. J. Clin. Invest. 2009, 119:3301-3310.
-
(2009)
J. Clin. Invest.
, vol.119
, pp. 3301-3310
-
-
Randall, V.1
-
50
-
-
84877260745
-
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism
-
Miraoui H., et al. Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am. J. Hum. Genet. 2013, 92:725-743.
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 725-743
-
-
Miraoui, H.1
-
51
-
-
0036797067
-
A genetic link between Tbx1 and fibroblast growth factor signaling
-
Vitelli F., et al. A genetic link between Tbx1 and fibroblast growth factor signaling. Development 2002, 129:4605-4611.
-
(2002)
Development
, vol.129
, pp. 4605-4611
-
-
Vitelli, F.1
-
52
-
-
84891517916
-
Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome
-
Yu T., et al. Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome. Elife 2013, 2:e01305.
-
(2013)
Elife
, vol.2
, pp. e01305
-
-
Yu, T.1
-
53
-
-
33845757573
-
Gbx2 and Otx2 interact with the WD40 domain of Groucho/Tle corepressors
-
Heimbucher T., et al. Gbx2 and Otx2 interact with the WD40 domain of Groucho/Tle corepressors. Mol. Cell. Biol. 2007, 27:340-351.
-
(2007)
Mol. Cell. Biol.
, vol.27
, pp. 340-351
-
-
Heimbucher, T.1
-
54
-
-
84920966441
-
Epistatic interactions between Chd7 and Fgf8 during cerebellar development: Implications for CHARGE syndrome
-
Basson M.A. Epistatic interactions between Chd7 and Fgf8 during cerebellar development: Implications for CHARGE syndrome. Rare Dis. 2014, 2:e28688.
-
(2014)
Rare Dis.
, vol.2
, pp. e28688
-
-
Basson, M.A.1
-
55
-
-
84897835537
-
CHD7 interacts with BMP R-SMADs to epigenetically regulate cardiogenesis in mice
-
Liu Y., et al. CHD7 interacts with BMP R-SMADs to epigenetically regulate cardiogenesis in mice. Hum. Mol. Genet. 2014, 23:2145-2156.
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 2145-2156
-
-
Liu, Y.1
-
56
-
-
79957600785
-
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes
-
Engelen E., et al. Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. Nat. Genet. 2011, 43:607-611.
-
(2011)
Nat. Genet.
, vol.43
, pp. 607-611
-
-
Engelen, E.1
-
57
-
-
84908338814
-
Inappropriate p53 activation during development induces features of CHARGE syndrome
-
Van Nostrand J.L., et al. Inappropriate p53 activation during development induces features of CHARGE syndrome. Nature 2014, 514:228-232.
-
(2014)
Nature
, vol.514
, pp. 228-232
-
-
Van Nostrand, J.L.1
-
58
-
-
84918497812
-
Chd1 is essential for the high transcriptional output and rapid growth of the mouse epiblast
-
Guzman-Ayala M., et al. Chd1 is essential for the high transcriptional output and rapid growth of the mouse epiblast. Development 2015, 142:118-127.
-
(2015)
Development
, vol.142
, pp. 118-127
-
-
Guzman-Ayala, M.1
-
59
-
-
59649116006
-
CHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis
-
Nishiyama M., et al. CHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis. Nat. Cell Biol. 2009, 11:172-182.
-
(2009)
Nat. Cell Biol.
, vol.11
, pp. 172-182
-
-
Nishiyama, M.1
-
60
-
-
0037087629
-
Rescue of neural tube defects in Pax-3-deficient embryos by p53 loss of function: implications for Pax-3- dependent development and tumorigenesis
-
Pani L., et al. Rescue of neural tube defects in Pax-3-deficient embryos by p53 loss of function: implications for Pax-3- dependent development and tumorigenesis. Genes Dev. 2002, 16:676-680.
-
(2002)
Genes Dev.
, vol.16
, pp. 676-680
-
-
Pani, L.1
-
61
-
-
84907202751
-
P53 suppression partially rescues the mutant phenotype in mouse models of DiGeorge syndrome
-
Caprio C., Baldini A. p53 suppression partially rescues the mutant phenotype in mouse models of DiGeorge syndrome. Proc. Natl. Acad. Sci. U.S.A. 2014, 111:13385-13390.
-
(2014)
Proc. Natl. Acad. Sci. U.S.A.
, vol.111
, pp. 13385-13390
-
-
Caprio, C.1
Baldini, A.2
-
62
-
-
38949170601
-
Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function
-
Jones N.C., et al. Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. Nat. Med. 2008, 14:125-133.
-
(2008)
Nat. Med.
, vol.14
, pp. 125-133
-
-
Jones, N.C.1
-
63
-
-
84904635209
-
Disruptive CHD8 mutations define a subtype of autism early in development
-
Bernier R., et al. Disruptive CHD8 mutations define a subtype of autism early in development. Cell 2014, 158:263-276.
-
(2014)
Cell
, vol.158
, pp. 263-276
-
-
Bernier, R.1
-
64
-
-
84923328885
-
Recurrent de novo mutations implicate novel genes underlying simplex autism risk
-
O'Roak B.J., et al. Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nat. Commun. 2014, 5:5595.
-
(2014)
Nat. Commun.
, vol.5
, pp. 5595
-
-
O'Roak, B.J.1
-
65
-
-
84899918742
-
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
-
Pinto D., et al. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am. J. Hum. Genet. 2014, 94:677-694.
-
(2014)
Am. J. Hum. Genet.
, vol.94
, pp. 677-694
-
-
Pinto, D.1
-
66
-
-
84908151229
-
Histone core modifications regulating nucleosome structure and dynamics
-
Tessarz P., Kouzarides T. Histone core modifications regulating nucleosome structure and dynamics. Nat. Rev. Mol. Cell Biol. 2014, 15:703-708.
-
(2014)
Nat. Rev. Mol. Cell Biol.
, vol.15
, pp. 703-708
-
-
Tessarz, P.1
Kouzarides, T.2
-
67
-
-
0027525970
-
Studies of the DNA binding properties of histone H4 amino terminus. Thermal denaturation studies reveal that acetylation markedly reduces the binding constant of the H4 'tail' to DNA
-
Hong L., et al. Studies of the DNA binding properties of histone H4 amino terminus. Thermal denaturation studies reveal that acetylation markedly reduces the binding constant of the H4 'tail' to DNA. J. Biol. Chem. 1993, 268:305-314.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 305-314
-
-
Hong, L.1
-
68
-
-
84908690018
-
The role of BAF (mSWI/SNF) complexes in mammalian neural development
-
Son E.Y., Crabtree G.R. The role of BAF (mSWI/SNF) complexes in mammalian neural development. Am. J. Med. Genet. 2014, 166C:333-349.
-
(2014)
Am. J. Med. Genet.
, vol.166C
, pp. 333-349
-
-
Son, E.Y.1
Crabtree, G.R.2
-
69
-
-
84864131784
-
The mutation in Chd7 causes misexpression of Bmp4 and developmental defects in telencephalic midline
-
Jiang X., et al. The mutation in Chd7 causes misexpression of Bmp4 and developmental defects in telencephalic midline. Am. J. Pathol. 2012, 181:626-641.
-
(2012)
Am. J. Pathol.
, vol.181
, pp. 626-641
-
-
Jiang, X.1
-
70
-
-
77956607420
-
The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear
-
Hurd E.A., et al. The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear. Development 2010, 137:3139-3150.
-
(2010)
Development
, vol.137
, pp. 3139-3150
-
-
Hurd, E.A.1
-
71
-
-
84903839212
-
CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome
-
Micucci J.A., et al. CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome. Hum. Mol. Genet. 2014, 23:434-448.
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 434-448
-
-
Micucci, J.A.1
-
72
-
-
77956123023
-
Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome
-
Numakura C., et al. Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome. Am. J. Med. Genet. 2010, 152A:2355-2359.
-
(2010)
Am. J. Med. Genet.
, vol.152A
, pp. 2355-2359
-
-
Numakura, C.1
-
73
-
-
84904738535
-
CHARGE and Kabuki syndromes: a phenotypic and molecular link
-
Schulz Y., et al. CHARGE and Kabuki syndromes: a phenotypic and molecular link. Hum. Mol. Genet. 2014, 23:4396-4405.
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 4396-4405
-
-
Schulz, Y.1
|