| 1 | ASH2L, CHARGE, CHD7, KABUK1, KMT2D, RBBP5, WDR5
|
| CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
|
| Butcher DT, Cytrynbaum C, Turinsky AL, Siu MT, Inbar-Feigenberg M, Mendoza-Londono R, Chitayat D, Walker S, Machado J, Caluseriu O, Dupuis L, Grafodatskaya D, Reardon W, Gilbert-Dussardier B, Verloes A, Bilan F, Milunsky JM, Basran R, Papsin B, Stockley TL, Scherer SW, Choufani S, Brudno M, Weksberg R.
|
| Am J Hum Genet 100(5):773-788. doi: 10.1016/j.ajhg.2017.04.004.
2017
|
| 2 | CHARGE, CHD7
|
| CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.
|
| Pisaneschi E, Sirleto P, Lepri FR, Genovese S, Dentici ML, Petrocchi S, Angioni A, Digilio MC, Dallapiccola B.
|
| BMC Med Genet 16(1):78. doi: 10.1186/s12881-015-0225-7.
2015
|
| 3 | CHD7
|
| A critical role for the chromatin remodeller CHD7 in anterior mesoderm during cardiovascular development.
|
| Payne S, Burney MJ, McCue K, Popal N, Davidson SM, Anderson RH, Scambler PJ.
|
| Dev Biol 405(1):82-95. doi: 10.1016/j.ydbio.2015.06.017. Epub 2015 Jun 21.
2015
|
| 4 | CHD7, HHI5
|
| Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.
|
| Balasubramanian R, Choi JH, Francescatto L, Willer J, Horton ER, Asimacopoulos EP, Stankovic KM, Plummer L, Buck CL, Quinton R, Nebesio TD, Mericq V, Merino PM, Meyer BF, Monies D, Gusella JF, Al Tassan N, Katsanis N, Crowley WF Jr.
|
| Proc Natl Acad Sci U S A 111(50):17953-8. doi: 10.1073/pnas.1417438111. Epub 2014 Dec 3.
2014
|
| 5 | CHD7, HHI5
|
| The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
|
| Marcos S, Sarfati J, Leroy C, Fouveaut C, Parent P, Metz C, Wolczynski S, Gérard M, Bieth E, Kurtz F, Verier-Mine O, Perrin L, Archambeaud F, Cabrol S, Rodien P, Hove H, Prescott T, Lacombe D, Christin-Maitre S, Touraine P, Hieronimus S, Dewailly D, Young J, Pugeat M, Hardelin JP, Dodé C.
|
| J Clin Endocrinol Metab 99(10):E2138-43. doi: 10.1210/jc.2014-2110. Epub 2014 Jul 31. Erratum in: J Clin Endocrinol Metab. 2015 Jan;100(1):317.
2014
|
| 6 | CHD7
|
| The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development.
|
| Sperry ED, Hurd EA, Durham MA, Reamer EN, Stein AB, Martin DM.
|
| Dev Dyn 243(9):1055-66. doi: 10.1002/dvdy.24156. Epub 2014 Jul 10.
2014
|
| 7 | CHARGE, CHD7
|
| 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 133(8):997-1009. doi: 10.1007/s00439-014-1444-2. Epub 2014 Apr 13.
2014
|
| 8 | CHD7
|
| CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome.
|
| Micucci JA, Layman WS, Hurd EA, Sperry ED, Frank SF, Durham MA, Swiderski DL, Skidmore JM, Scacheri PC, Raphael Y, Martin DM.
|
| Hum Mol Genet 23(2):434-48. doi: 10.1093/hmg/ddt435. Epub 2013 Sep 10.
2014
|
| 9 | ASH2L, CHD7, MYC
|
| The trithorax group protein Ash2l is essential for pluripotency and maintaining open chromatin in embryonic stem cells.
|
| Wan M, Liang J, Xiong Y, Shi F, Zhang Y, Lu W, He Q, Yang D, Chen R, Liu D, Barton M, Songyang Z.
|
| J Biol Chem 288(7):5039-48. doi: 10.1074/jbc.M112.424515. Epub 2012 Dec 13.
2013
|
| 10 | CHD7
|
| The cardiac phenotype in patients with a CHD7 mutation.
|
| Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, Baardman ME, Bakker MK, Bergman JE, Hove HD, Heimdal KR, Rustad CF, Hennekam RC, Hofstra RM, Hoefsloot LH, Van Ravenswaaij-Arts CM, Kapusta L.
|
| Circ Cardiovasc Genet 6(3):248-54.
2013
|
| 11 | CHARGE, CHD7, DEL8Q12
|
| 8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: Case report and critical review of the literature.
|
| Palumbo O, Palumbo P, Stallone R, Palladino T, Zelante L, Carella M.
|
| Gene ene. 2012 Nov 7. doi:pii: S0378-1119(12)01339-X. 10.1016/j.gene.2012.09.132. [Epub ahead of print]
2012
|
| 12 | CHD7, DUP8Q12
|
| Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly.
|
| Luo H, Xie L, Wang SZ, Chen JL, Huang C, Wang J, Yang JF, Zhang WZ, Yang YF, Tan ZP.
|
| Eur J Med Genet 55(11):646-9. doi: 10.1016/j.ejmg.2012.07.006. Epub 2012 Jul 31.
2012
|
| 13 | CHARGE, CHD7
|
| CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.
|
| Pauli S, von Velsen N, Burfeind P, Steckel M, Mänz J, Buchholz A, Borozdin W, Kohlhase J.
|
| Clin Genet 81(3):234-9. doi: 10.1111/j.1399-0004.2011.01701.x. Epub 2011 May 27.
2012
|
| 14 | CHARGE, CHD7
|
| 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 33(8):1149-60. doi: 10.1002/humu.22086. Epub 2012 Apr 16. Review.
2012
|
| 15 | CHD7
|
| 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 109(47):19238-43. doi: 10.1073/pnas.1213825109. Epub 2012 Nov 7.
2012
|
| 16 | CHD7, CHD8, FAM124B
|
| 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. 7(12):e52640. doi: 10.1371/journal.pone.0052640. Epub 2012 Dec 21. 2012
|
| 17 | CHD7, SOX2
|
| Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.
|
| Engelen E, Akinci U, Bryne JC, Hou J, Gontan C, Moen M, Szumska D, Kockx C, van Ijcken W, Dekkers DH, Demmers J, Rijkers EJ, Bhattacharya S, Philipsen S, Pevny LH, Grosveld FG, Rottier RJ, Lenhard B, Poot RA.
|
| Nat Genet 43(6):607-11. Epub 2011 May 1.
2011
|
| 18 | CHD7, SOX2
|
| SOX2 and CHD7 cooperatively regulate human disease genes.
|
| Puc J, Rosenfeld MG.
|
| Nat Genet 43(6):505-6. No abstract available.
2011
|
| 19 | CHD7, PBRM1
|
| 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 463(7283):958-62. Epub 2010 Feb 3.PMID: 20130577 2010
|
| 20 | CHARGE, CHD7
|
| Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.
|
| Zentner GE, Layman WS, Martin DM, Scacheri PC.
|
| Am J Med Genet A 152A(3):674-86. Review.PMID: 20186815 2010
|
| 21 | CHD7
|
| 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 6(7):e1001023.PMID: 20657823 2010
|
| 22 | CHD7, CHD8
|
| 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 19(14):2858-66. Epub 2010 May 7.PMID: 20453063 2010
|
| 23 | CHARGE, CHD7
|
| 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 19(18):3491-501. Epub 2010 Jun 29.PMID: 20591827 2010
|
| 24 | CHARGE, CHD7
|
| Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.
|
| Kaliakatsos M, Giannakopoulos A, Fryssira H, Kanariou M, Skiathitou AV, Siahanidou T, Giannikou K, Makrythanasis P, Kanavakis E, Tzetis M.
|
| J Hum Genet 55(11):761-3. Epub 2010 Aug 5.
2010
|
| 25 | CHARGE, CHD7
|
| CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.
|
| Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF Jr, Hoefsloot LH.
|
| Clin Genet 75(1):65-71. Epub 2008 Nov 17.
2009
|
| 26 | CHARGE, CHD7
|
| CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.
|
| Jyonouchi S, McDonald-McGinn DM, Bale S, Zackai EH, Sullivan KE.
|
| Pediatrics 123(5):e871-7.
2009
|
| 27 | CHARGE, CHD7
|
| Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome.
|
| Lee YW, Kim SC, Shin YL, Kim JW, Hong HS, Lee YK, Ki CS.
|
| Clin Genet. 75(3):290-3. 2009
|
| 28 | CHD7, DUP8Q12
|
| A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7.
|
| Lehman AM, Friedman JM, Chai D, Zahir FR, Marra MA, Prisman L, Tsang E, Eydoux P, Armstrong L.
|
| Eur J Med Genet 52(6):436-9. Epub 2009 Sep 17. 2009
|
| 29 | CHARGE, CHD7
|
| Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.
|
| Layman WS, McEwen DP, Beyer LA, Lalani SR, Fernbach SD, Oh E, Swaroop A, Hegg CC, Raphael Y, Martens JR, Martin DM.
|
| Hum Mol Genet 18(11):1909-23. Epub 2009 Mar 11.PMID: 19279158 2009
|
| 30 | CHARGE, CHD7
|
| Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.
|
| Jongmans MC, Hoefsloot LH, van der Donk KP, Admiraal RJ, Magee A, van de Laar I, Hendriks Y, Verheij JB, Walpole I, Brunner HG, van Ravenswaaij CM.
|
| Am J Med Genet A 146(1):43-50. 2008
|
| 31 | CHARGE, CHD7
|
| CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.
|
| Wincent J, Holmberg E, Strömland K, Soller M, Mirzaei L, Djureinovic T, Robinson K, Anderlid B, Schoumans J.
|
| Clin Genet 74(1):31-8. Epub 2008 Apr 28.
2008
|
| 32 | CHARGE, CHD7
|
| 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 83(4):511-9. Epub 2008 Oct 2.
2008
|
| 33 | CHARGE, CHD7
|
| Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.
|
| Asakura Y, Toyota Y, Muroya K, Kurosawa K, Fujita K, Aida N, Kawame H, Kosaki K, Adachi M.
|
| J Clin Endocrinol Metab 93(3):920-4. Epub 2007 Dec 18.
2008
|
| 34 | CHARGE, CHD7
|
| Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.
|
| Bergman JE, de Wijs I, Jongmans MC, Admiraal RJ, Hoefsloot LH, van Ravenswaaij-Arts CM.
|
| Eur J Med Genet 51(5):417-25. Epub 2008 Apr 4.
2008
|
| 35 | CHARGE, CHD7
|
| Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.
|
| Gennery AR, Slatter MA, Rice J, Hoefsloot LH, Barge D, McLean-Tooke A, Montgomery T, Goodship JA, Burt AD, Flood TJ, Abinun M, Cant AJ, Johnson D.
|
| Clin Exp Immunol 153(1):75-80. Epub 2008 May 26.PMID: 18505430 2008
|
| 36 | CHD7, HHI5
|
| 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 83(4):511-9. doi: 10.1016/j.ajhg.2008.09.005. Epub 2008 Oct 2.
2008
|
| 37 | CHD7
|
| CHD7 Gene Polymorphisms Are Associated with Susceptibility to Idiopathic Scoliosis.
|
| Gao X, Gordon D, Zhang D, Browne R, Helms C, Gillum J, Weber S, Devroy S, Swaney S, Dobbs M, Morcuende J, Sheffield V, Lovett M, Bowcock A, Herring J, Wise C.
|
| Am J Hum Genet 80(5):957-65. Epub 2007 Mar 12. 2007
|
| 38 | CHARGE, CHD7, CHARGE2, SEMA3E
|
| CHARGE syndrome: an update.
|
| Sanlaville D, Verloes A.
|
| Eur J Hum Genet 15(4):389-99. Epub 2007 Feb 14. 2007
|
| 39 | CHARGE, CHD7
|
| Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.
|
| Delahaye A, Sznajer Y, Lyonnet S, Elmaleh-Berges M, Delpierre I, Audollent S, Wiener-Vacher S, Mansbach AL, Amiel J, Baumann C, Bremond-Gignac D, Attie-Bitach T, Verloes A, Sanlaville D.
|
| Clin Genet 72(2):112-21. 2007
|
| 40 | CHARGE, CHD7
|
| Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.
|
| Vuorela P, Ala-Mello S, Saloranta C, Penttinen M, Pšyhšnen M, Huoponen K, Borozdin W, Bausch B, Botzenhart EM, Wilhelm C, KŠŠriŠinen H, Kohlhase J.
|
| Genet Med 9(10):690-4. 2007
|
| 41 | CHARGE, CHD7
|
| Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation.
|
| Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW.
|
| Am J Hum Genet 78(2):303-14. Epub 2005 Dec 29. 2006
|
| 42 | CHD7, CHARGE
|
| Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.
|
| Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clement-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet S, Vekemans M, Attie-Bitach T.
|
| J Med Genet 43(3):211-317. Epub 2005 Sep 16. 2006
|
| 43 | CHD7, CHARGE
|
| Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins.
|
| Johnson D, Morrison N, Grant L, Turner T, Fantes J, Connor JM, Murday V.
|
| J Med Genet 43(3):280-4. Epub 2005 Aug 23. 2006
|
| 44 | CHD7, CHARGE
|
| CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
|
| Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM.
|
| J Med Genet 43(4):306-14. Epub 2005 Sep 9. 2006
|
| 45 | CHARGE, CHD7, DEL22Q11, FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCJ, MYCN, ODED1, SALL1, TBS, TBX1, VACTERLH
|
| Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology.
|
| Shaw-Smith C.
|
| J Med Genet 43(7):545-54. Epub 2005 Nov 18. Review. 2006
|
| 46 | CHD7
|
| CHD7 gene and non-syndromic cleft lip and palate.
|
| Felix TM, Hanshaw BC, Mueller R, Bitoun P, Murray JC.
|
| Am J Med Genet A 140(19):2110-4. 2006
|
| 47 | CHD7, CHARGE
|
| Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.
|
| Bosman EA, Penn AC, Ambrose JC, Kettleborough R, Stemple DL, Steel KP.
|
| Hum Mol Genet 14(22):3463-76. Epub 2005 Oct 5. 2005
|
| 48 | CHD7, CHARGE
|
| Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
|
| Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG.
|
| Nat Genet 36(9):955-7. Epub 2004 Aug 08. 2004
|
| 49 | ALPK3, ARHGAP21, ARHGAP28, ASH1L, BOD1L, CASKIN1, CDH6, CGN, CHD7, COG1, CPSF2, CRAMP1L, DNAH1, EBF4, EIF2AK1, EIF2AK4, FAM135A, FAM63A, FBXO41, FBXO42, FGD6, FRMD4A, G2E3, HACE1, HEATR5B, HOMEZ, IBTK, IFT80, IGSF9, JMJD1C, KCNT1, KIAA1109, KIAA1328, KIAA1377, KIAA1383, KIAA1407, KIAA1430, KIF17, KLF17, KLHDC5, KLHL11, KLHL12, KLHL13, KLHL14, KLHL15, KLHL8, KLHL9, LRP2BP, LRRC7, MARCH4, MIB1, MRTFA, N4BP2, NFIA, NUFIP2, PCDH10, PDCD6IP, PDP2, PTCHD2, RBM27, RCOR3, RGAG1, RIC1, ROBO2, RPAP1, SEMA6A, SH3PXD2B, SIPA1L2, STAMBPL1, STARD9, TSR1, TULP4, TXNDC16, UPF2, WDFY1, WDR11, WDR35, ZMYM6, ZNF391, ZNF395, ZNF398, ZNF471, ZNF687, ZNFX1
|
| Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.
|
| Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O.
|
| DNA Res 7(1):65-73. 2000
|