CHD7

Summary

Gene Symbol: CHD7
Description: chromodomain helicase DNA binding protein 7
Alias: CRG, HH5, IS3, KAL5, chromodomain-helicase-DNA-binding protein 7, ATP-dependent helicase CHD7, CHARGE association, chromodomain helicase DNA binding protein 7 isoform CRA_e
Species: human
Products:     CHD7

Top Publications

  1. Vatta M, Niu Z, Lupski J, Putnam P, Spoonamore K, Fang P, et al. Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Am J Med Genet A. 2013;161A:3182-6 pubmed publisher
    Haploinsufficiency of CHD7 (OMIM# 608892) is known to cause CHARGE syndrome (OMIM# 214800). Molecular testing supports a definitive diagnosis in approximately 65-70% of cases...
  2. Kim H, Kurth I, Lan F, Meliciani I, Wenzel W, Eom S, et al. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet. 2008;83:511-9 pubmed publisher
    ..CHARGE syndrome, a multisystem autosomal-dominant disorder, is caused by CHD7 mutations...
  3. Bergman J, Janssen N, van der Sloot A, de Walle H, Schoots J, Rendtorff N, et al. A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. Hum Mutat. 2012;33:1251-60 pubmed publisher
    ..impairment, congenital anomalies, and developmental delay, and is caused by heterozygous mutations in the CHD7 gene. Correct interpretation of CHD7 variants is essential for genetic counseling...
  4. Vissers L, van Ravenswaaij C, Admiraal R, Hurst J, de Vries B, Janssen I, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet. 2004;36:955-7 pubmed
    ..Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected ..
  5. Bergman J, Janssen N, Hoefsloot L, Jongmans M, Hofstra R, van Ravenswaaij Arts C. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet. 2011;48:334-42 pubmed publisher
    ..This typical combination of clinical features is caused by autosomal dominant mutations in the CHD7 gene...
  6. Cho H, Song M, Choi S, Kim J, Lee J, Kim U, et al. Genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome. Gene. 2013;517:164-8 pubmed publisher
    CHARGE syndrome is an autosomal dominant congenital disorder known to be caused by the haploinsufficiency of the CHD7 gene...
  7. Jongmans M, van Ravenswaaij Arts C, Pitteloud N, Ogata T, Sato N, Claahsen van der Grinten H, et al. CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clin Genet. 2009;75:65-71 pubmed publisher
    ..CHARGE syndrome is caused by mutations in the CHD7 gene...
  8. Lee Y, Kim S, Shin Y, Kim J, Hong H, Lee Y, et al. Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome. Clin Genet. 2009;75:290-3 pubmed publisher
  9. Zentner G, Layman W, Martin D, Scacheri P. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. Am J Med Genet A. 2010;152A:674-86 pubmed publisher
    ..De novo mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7) are the major cause of CHARGE syndrome...

More Information

Publications118 found, 100 shown here

  1. Bartels C, Scacheri C, White L, Scacheri P, Bale S. Mutations in the CHD7 gene: the experience of a commercial laboratory. Genet Test Mol Biomarkers. 2010;14:881-91 pubmed publisher
    CHARGE syndrome is an autosomal dominant multisystem disorder caused by mutation in the CHD7 gene, encoding chromodomain helicase DNA-binding protein 7...
  2. Jongmans M, Admiraal R, van der Donk K, Vissers L, Baas A, Kapusta L, et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet. 2006;43:306-14 pubmed
    ..Specific behavioural problems, including autistic-like behaviour, have been described. The CHD7 gene on chromosome 8q12.1 was recently discovered as a major gene involved in the aetiology of this syndrome.
  3. Sanlaville D, Verloes A. CHARGE syndrome: an update. Eur J Hum Genet. 2007;15:389-99 pubmed
    CHARGE syndrome is a rare, usually sporadic autosomal dominant disorder due in 2/3 of cases to mutations within the CHD7 gene. The clinical definition has evolved with time...
  4. Bajpai R, Chen D, Rada Iglesias A, Zhang J, Xiong Y, Helms J, et al. CHD7 cooperates with PBAF to control multipotent neural crest formation. Nature. 2010;463:958-62 pubmed publisher
    Heterozygous mutations in the gene encoding the CHD (chromodomain helicase DNA-binding domain) member CHD7, an ATP-dependent chromatin remodeller homologous to the Drosophila trithorax-group protein Kismet, result in a complex ..
  5. Dauber A, Hirschhorn J, Picker J, Maher T, Milunsky A. Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. Pediatrics. 2010;126:e1594-8 pubmed publisher
    ..Genetic testing revealed a novel de novo mutation in the CHD7 gene, one of the causative genes in CHARGE syndrome (coloboma, heart disease, choanal atresia, retarded growth and ..
  6. Song M, Cho H, Lee H, Kwon T, Lee W, Oh S, et al. CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome. PLoS ONE. 2011;6:e24511 pubmed publisher
    ..Since genetic analysis of the CHD7 gene has rarely been performed in previous reports dealing with ear abnormalities, the genotypic spectrum of CHD7 ..
  7. Janssen N, Bergman J, Swertz M, Tranebjaerg L, Lodahl M, Schoots J, et al. Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum Mutat. 2012;33:1149-60 pubmed publisher
    b>CHD7 is a member of the chromodomain helicase DNA-binding (CHD) protein family that plays a role in transcription regulation by chromatin remodeling...
  8. Wineland A, Menezes M, Shimony J, Shinawi M, Hullar T, Hirose K. Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome. JAMA Otolaryngol Head Neck Surg. 2017;143:168-177 pubmed publisher
    ..We tested 16 patients for mutations in the CHD7 gene; 10 were positive (63%) for mutations, 4 (25%) were negative, and 2 (13%) were inconclusive...
  9. Renukanthan A, Quinton R, Turner B, MacCallum P, Seal L, Davies A, et al. Kallmann syndrome patient with gender dysphoria, multiple sclerosis, and thrombophilia. Endocrine. 2015;50:496-503 pubmed publisher
    ..The genetic basis of Kallmann syndrome remains unknown: his screening tests were negative for mutations in CHD7, FGF8, FGFR1, GNRH1, GNRHR, HS6ST1, KAL1, KISS1R, KISS1, NELF, PROK2, PROKR2, TAC3, and TACR3...
  10. Chen C, Lin S, Lin Y, Chern S, Wu P, Chen Y, et al. Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12?q13.1::) associated with phenotypic abnormalities. Taiwan J Obstet Gynecol. 2016;55:852-855 pubmed publisher
    ..40 (Log2 ratio=0.24) encompassing 98 Online Mendelian Inheritance in Man (OMIM) genes including CHD7, consistent with 30-40% mosaicism for r(8)(::p12?q13.1::)...
  11. Pauli S, Bajpai R, Borchers A. CHARGEd with neural crest defects. Am J Med Genet C Semin Med Genet. 2017;175:478-486 pubmed publisher
    ..Mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene are causative of CHARGE syndrome and loss-of-function data in different model systems have firmly established ..
  12. Gonçalves C, Bastos M, Pignatelli D, Borges T, Aragüés J, Fonseca F, et al. Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. Fertil Steril. 2015;104:1261-7.e1 pubmed publisher
    ..Oligogenic inheritance (FGFR1/CHD7/PROKR2) was found in one patient...
  13. Yang H, Choi B, Kim J, Koo J, Chang M, Hwang J. CHARGE syndrome with oculomotor nerve palsy. J AAPOS. 2015;19:555-7 pubmed publisher
    ..Ser705X) of the CHD7 gene...
  14. Zhang X, Zhao B, Yan T, Hao A, Gao Y, Li D, et al. G-quadruplex structures at the promoter of HOXC10 regulate its expression. Biochim Biophys Acta Gene Regul Mech. 2018;1861:1018-1028 pubmed publisher
    ..Additionally, CHD7, a chromatin remodeling protein with DNA helicase activity, could associate with the HOXC10 promoter and likely ..
  15. Okumura T, Furuichi K, Higashide T, Sakurai M, Hashimoto S, Shinozaki Y, et al. Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome. PLoS ONE. 2015;10:e0142843 pubmed publisher
    ..Moreover, four other sequence variants (CHD7, SALL4, KIF26B, and SIX4) were also confirmed, including a potentially pathogenic novel KIF26B mutation...
  16. Skariyachan S, Garka S, Puttaswamy S, Shanbhogue S, Devaraju R, Narayanappa R. Environmental monitoring and assessment of antibacterial metabolite producing actinobacteria screened from marine sediments in south coastal regions of Karnataka, India. Environ Monit Assess. 2017;189:283 pubmed publisher
    ..The metabolite from IS3 showed activity against Strep. pyogenes and E. coli...
  17. Kim H, Kim Y, Park H. Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome. Pediatr Pulmonol. 2017;52:E4-E6 pubmed publisher
    ..and development, genital hypoplasia, and ear anomalies/deafness) syndrome is a rare genetic disorder caused by CHD7 mutation and is related to immunodeficiency...
  18. Sperry E, Schuette J, van Ravenswaaij Arts C, Green G, Martin D. Duplication 2p25 in a child with clinical features of CHARGE syndrome. Am J Med Genet A. 2016;170A:1148-54 pubmed publisher
    ..The majority of individuals with CHARGE have pathogenic variants in the gene encoding CHD7, a chromatin remodeling protein...
  19. Zhou C, Niu Y, Xu H, Li Z, Wang T, Yang W, et al. Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism. Fertil Steril. 2018;110:486-495.e5 pubmed publisher
    ..In the 148 probands, PROKR2 (22/148, 14.86%), CHD7, FGFR1, and KAL1 had high mutation rates, and 8...
  20. Vizeneux A, Hilfiger A, Bouligand J, Pouillot M, Brailly Tabard S, Bashamboo A, et al. Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys. PLoS ONE. 2013;8:e77827 pubmed publisher
    ..In addition to the CHD7 gene mutations in 4 patients with CHARGE, mutations were found in 5/26 other boys analysed including one in KAL1 ..
  21. Ayers K, Bouty A, Robevska G, Van Den Bergen J, Juniarto A, Listyasari N, et al. Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys. Hum Genomics. 2017;11:1 pubmed publisher
    ..Interestingly, many of these patients had hypospadias. We postulate that variants in CHH genes, in particular PROKR2, PROK2, WDR11 and FGFR1 with CHD7, may contribute to under-virilisation phenotypes including hypospadias in Indonesia.
  22. Di Iorgi N, Morana G, Allegri A, Napoli F, Gastaldi R, Calcagno A, et al. Classical and non-classical causes of GH deficiency in the paediatric age. Best Pract Res Clin Endocrinol Metab. 2016;30:705-736 pubmed publisher
    ..as HESX1, SOX2, SOX3, LHX3, LHX4, PROP1, POU1F1, PITX, GLI3, GLI2, OTX2, ARNT2, IGSF1, FGF8, FGFR1, PROKR2, PROK2, CHD7, WDR11, NFKB2, PAX6, TCF7L1, IFT72, GPR161 and CDON - have been associated with pituitary dysfunction and abnormal ..
  23. Jones Dias D, Manageiro V, Ferreira E, Barreiro P, Vieira L, Moura I, et al. Architecture of Class 1, 2, and 3 Integrons from Gram Negative Bacteria Recovered among Fruits and Vegetables. Front Microbiol. 2016;7:1400 pubmed publisher
    ..g., Tn402, Tn7, ISCR1, Tn2 (*), IS26, IS1326, and IS3) that conferred greater mobility...
  24. Kingsley S, Deyssenroth M, Kelsey K, Awad Y, Kloog I, Schwartz J, et al. Maternal residential air pollution and placental imprinted gene expression. Environ Int. 2017;108:204-211 pubmed publisher
    ..Infant sex modified the association between PM2.5 and expression of CHD7 and between proximity to major roadways and expression of ZDBF2...
  25. Wardal E, Kuch A, Gawryszewska I, Zabicka D, Hryniewicz W, Sadowy E. Diversity of plasmids and Tn1546-type transposons among VanA Enterococcus faecium in Poland. Eur J Clin Microbiol Infect Dis. 2017;36:313-328 pubmed publisher
    ..including 26 novel ones) were associated with eight different ISs (IS1216, IS1251, ISEfa4, ISEfa5, ISEfm2, ISEf1, IS3-like, ISEfm1-like)...
  26. Odetoyin B, Hofmann J, Aboderin A, Okeke I. Diarrhoeagenic Escherichia coli in mother-child Pairs in Ile-Ife, South Western Nigeria. BMC Infect Dis. 2016;16:28 pubmed publisher
    ..Genetic relatedness of DEC strains was determined by flagellin typing and Insertion element 3 (IS3)-based PCR. DEC were identified from 35...
  27. Leung G, Mak C, Fung J, Wong W, Tsang M, Yu M, et al. Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES). BMC Med Genomics. 2018;11:93 pubmed publisher
    ..1%), including mutations in DNAH11, RAF1 and CHD7, which were associated with primary ciliary dyskinesia, Noonan syndrome, and CHARGE syndrome, respectively...
  28. Siede D, Rapti K, Gorska A, Katus H, Altmuller J, Boeckel J, et al. Identification of circular RNAs with host gene-independent expression in human model systems for cardiac differentiation and disease. J Mol Cell Cardiol. 2017;109:48-56 pubmed publisher
    ..We validated the same circRNA dynamics for circRNAs from ATXN10, CHD7, DNAJC6 and SLC8A1 in biopsy material from human dilated cardiomyopathy (DCM) and control patients...
  29. Li P, Yang C, Xie J, Liu N, Wang H, Zhang L, et al. Acinetobacter calcoaceticus from a fatal case of pneumonia harboring bla(NDM-1) on a widely distributed plasmid. BMC Infect Dis. 2015;15:131 pubmed publisher
    ..gene bla OXA-75 was detected; however, this gene was interrupted by an insertion sequence ISAba22 belonging to IS3 family...
  30. Matsutani S. Possible interaction between the bacterial transcription factor ArtA and the eukaryotic RNA polymerase III promoter. Genetica. 2016;144:361-74 pubmed publisher
    ..in silico analyses revealed the presence of the RNAP III promoter-like structures in the IS1 isoforms and the IS3 family elements...
  31. Halaby T, Kucukkose E, Janssen A, Rogers M, Doorduijn D, van der Zanden A, et al. Genomic Characterization of Colistin Heteroresistance in Klebsiella pneumoniae during a Nosocomial Outbreak. Antimicrob Agents Chemother. 2016;60:6837-6843 pubmed publisher
    ..pneumoniae isolates. In two strains, mgrB was inactivated by an IS3-like or ISKpn14 insertion sequence element...
  32. Yu H, Zhang V, Stray Pedersen A, Hanson I, Forbes L, de la Morena M, et al. Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. J Allergy Clin Immunol. 2016;138:1142-1151.e2 pubmed publisher
    ..changes in ATM, RAG1, and CIITA; homozygous changes in DCLRE1C and IL7R; and a heterozygous nonsense mutation in CHD7. High-throughput deep sequencing analysis with complete clinical validation greatly increases the diagnostic yield ..
  33. Ryan D, Sundaramoorthy R, Martin D, Singh V, Owen Hughes T. The DNA-binding domain of the Chd1 chromatin-remodelling enzyme contains SANT and SLIDE domains. EMBO J. 2011;30:2596-609 pubmed publisher
    ..Point mutations to conserved amino acids within the human CHD7 SLIDE domain have been identified in patients with CHARGE syndrome.
  34. Laurette P, Strub T, Koludrovic D, Keime C, Le Gras S, Seberg H, et al. Transcription factor MITF and remodeller BRG1 define chromatin organisation at regulatory elements in melanoma cells. elife. 2015;4: pubmed publisher
    ..We show that MITF interacts with a PBAF chromatin remodelling complex comprising BRG1 and CHD7. BRG1 is essential for melanoma cell proliferation in vitro and for normal melanocyte development in vivo...
  35. Colbert L, Petrova A, Fisher S, Pantazides B, Madden M, Hardy C, et al. CHD7 expression predicts survival outcomes in patients with resected pancreatic cancer. Cancer Res. 2014;74:2677-87 pubmed publisher
    ..55 genes linked to DNA damage responses (DDR), that demonstrated gemcitabine sensitization when silenced, including CHD7, which functions in chromatin remodeling...
  36. Sohn Y, Ko J, Shin C, Yang S, Chae J, Lee K. Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients. J Hum Genet. 2016;61:235-9 pubmed publisher
    ..malformation syndrome that results from haploinsufficiency of the chromodomain helicase DNA-binding protein 7 (CHD7)...
  37. Prykhozhij S, Steele S, Razaghi B, Berman J. A rapid and effective method for screening, sequencing and reporter verification of engineered frameshift mutations in zebrafish. Dis Model Mech. 2017;10:811-822 pubmed publisher
    ..As proof of principle, we applied this strategy to three CRISPR/Cas9-induced mutations in pycr1a, chd7 and hace1 genes...
  38. Mondal T, Juvvuna P, Kirkeby A, Mitra S, Kosalai S, Traxler L, et al. Sense-Antisense lncRNA Pair Encoded by Locus 6p22.3 Determines Neuroblastoma Susceptibility via the USP36-CHD7-SOX9 Regulatory Axis. Cancer Cell. 2018;33:417-434.e7 pubmed publisher
    ..6p22lncRNAs regulate SOX9 expression by controlling CHD7 stability via modulating the cellular localization of USP36, encoded by another 17q gene...
  39. Felix T, Hanshaw B, Mueller R, Bitoun P, Murray J. CHD7 gene and non-syndromic cleft lip and palate. Am J Med Genet A. 2006;140:2110-4 pubmed
    ..CHARGE is caused by mutations or deletions in the CHD7 gene...
  40. Hudson A, Macdonald M, Friedman J, Blake K. CHARGE syndrome gastrointestinal involvement: from mouth to anus. Clin Genet. 2017;92:10-17 pubmed publisher
    ..that occurs as a result of a heterozygous loss-of-function mutation in the chromodomain helicase DNA-binding (CHD7) gene, which is important for neural crest cell formation...
  41. Aramaki M, Udaka T, Torii C, Samejima H, Kosaki R, Takahashi T, et al. Screening for CHARGE syndrome mutations in the CHD7 gene using denaturing high-performance liquid chromatography. Genet Test. 2006;10:244-51 pubmed
    Mutations in the CHD7 (chromodomain helicase DNA binding protein 7) gene cause CHARGE syndrome...
  42. Colin C, Tobaruella F, Correa R, Sogayar M, Demasi M. Cloning and characterization of a novel alternatively spliced transcript of the human CHD7 putative helicase. BMC Res Notes. 2010;3:252 pubmed publisher
    The CHD7 (Chromodomain Helicase DNA binding protein 7) gene encodes a member of the chromodomain family of ATP-dependent chromatin remodeling enzymes...
  43. Chighizola C, Pregnolato F, Raschi E, Grossi C, Gentilini D, Borghi M, et al. Antiphospholipid Antibodies and Infertility: A Gene Expression Study in Decidual Stromal Cells. Isr Med Assoc J. 2016;18:146-9 pubmed
    ..from two women undergoing elective abortion, and treated with: (i) a ?2GPI-dependent aPL monoclonal antibody (IS3); (ii) IS3 plus TIFI, a synthetic peptide mimicking PL-binding region of ?2GPI; and (iii) IgG from healthy subjects ..
  44. Whittaker D, Kasah S, Donovan A, Ellegood J, Riegman K, Volk H, et al. Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome. Am J Med Genet C Semin Med Genet. 2017;175: pubmed publisher
    Mutations in the gene encoding the ATP dependent chromatin-remodeling factor, CHD7 are the major cause of CHARGE (Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital-urinary anomalies, and Ear defects)..
  45. Legendre M, Abadie V, Attie Bitach T, Philip N, Busa T, Bonneau D, et al. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. Am J Med Genet C Semin Med Genet. 2017;175:417-430 pubmed publisher
    ..and development, Genital hypoplasia, and Ear anomalies and deafness, most often caused by a genetic mutation in the CHD7 gene...
  46. Wincent J, Schulze A, Schoumans J. Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype. Eur J Med Genet. 2009;52:271-2 pubmed publisher
    Bergman et al. performed a search for exon copy number alterations in the CHD7 gene using MLPA in CHARGE syndrome patients who did not have a CHD7 mutation...
  47. Batsukh T, Pieper L, Koszucka A, von Velsen N, Hoyer Fender S, Elbracht M, et al. CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. Hum Mol Genet. 2010;19:2858-66 pubmed publisher
    CHARGE syndrome is an autosomal dominant disorder caused in about two-third of cases by mutations in the CHD7 gene. For other genetic diseases e.g...
  48. Allen T. CHARGE syndrome: diagnosis and clinical management in the NICU. Adv Neonatal Care. 2012;12:336-42; quiz 343-4 pubmed publisher
    ..This article offers an explanation of the diagnostic process as well as a description of the physical assessment and corresponding clinical implications of CHARGE syndrome in the neonatal population. ..
  49. Gage P, Hurd E, Martin D. Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome. Invest Ophthalmol Vis Sci. 2015;56:7923-30 pubmed publisher
    ..Heterozygous mutations in CHD7 cause CHARGE syndrome in 70% to 90% of patients...
  50. Chen Y, Wang M, Chen D, Wang J, Kang N. Chromatin remodeling enzyme CHD7 is necessary for osteogenesis of human mesenchymal stem cells. Biochem Biophys Res Commun. 2016;478:1588-93 pubmed publisher
    ..In current study, we identified a role of CHD7 in osteogenic differentiation of MSC...
  51. Van de Laar I, Dooijes D, Hoefsloot L, Simon M, Hoogeboom J, Devriendt K. Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype. Am J Med Genet A. 2007;143A:2712-5 pubmed
    ..Three different heterozygous truncating mutations in the CHD7 gene were detected...
  52. Whittaker D, Riegman K, Kasah S, Mohan C, Yu T, Sala B, et al. The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression. J Clin Invest. 2017;127:874-887 pubmed publisher
    ..CHARGE syndrome has been associated with mutations in the gene encoding the ATP-dependent chromatin remodeler CHD7. CHD7 is expressed in neural stem and progenitor cells, but its role in neurogenesis during brain development ..
  53. Harmer C, Hamidian M, Hall R. pIP40a, a type 1 IncC plasmid from 1969 carries the integrative element GIsul2 and a novel class II mercury resistance transposon. Plasmid. 2017;92:17-25 pubmed publisher
    ..sulphonamides and mercuric ions, and several insertions in a type 1 IncC backbone were found, including copies of IS3, Tn1000 and a novel mercury resistance transposon, Tn6182. The antibiotic resistance genes were in two locations...
  54. Wang N, Hang X, Zhang M, Peng X, Yang H. New genetic environments of the macrolide-lincosamide-streptogramin resistance determinant erm(X) and their influence on potential horizontal transferability in bifidobacteria. Int J Antimicrob Agents. 2017;50:572-580 pubmed publisher
    ..The erm(X) gene was individually flanked by IS1249 or IS3 in genetic environments I, II and IV and was simultaneously flanked by IS1249 and IS3 elements in genetic ..
  55. Allen M, Religa T, Freund S, Bycroft M. Solution structure of the BRK domains from CHD7. J Mol Biol. 2007;371:1135-40 pubmed
    b>CHD7 is a member of the chromodomain helicase DNA binding domain (CHD) family of ATP-dependent chromatin remodelling enzymes. It is mutated in CHARGE syndrome, a multiple congenital anomaly condition...
  56. Burger N, Haak M, Kok E, de Groot C, Shou W, Scambler P, et al. Cardiac defects, nuchal edema and abnormal lymphatic development are not associated with morphological changes in the ductus venosus. Early Hum Dev. 2016;101:39-48 pubmed publisher
    ..and nuchal edema (Ccbe1(-/-) embryos), mouse embryos with cardiac defects and nuchal edema (Fkbp12(-/-), Tbx1(-/-), Chd7(fl/fl);Mesp1Cre, Jarid2(-/-NE+) embryos) and mouse embryos with cardiac defects without nuchal edema (Tbx2(-/-), ..
  57. Manning B, Yusufzai T. The ATP-dependent chromatin remodeling enzymes CHD6, CHD7, and CHD8 exhibit distinct nucleosome binding and remodeling activities. J Biol Chem. 2017;292:11927-11936 pubmed publisher
    ..III chromodomain-helicase-DNA-binding (CHD) family of ATP-dependent chromatin remodeling enzymes, comprising CHD6, CHD7, CHD8, and CHD9, has well-documented roles in transcription regulation, impacting both organism development and ..
  58. Choo D, Tawfik K, Martin D, Raphael Y. Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures. Am J Med Genet C Semin Med Genet. 2017;175:439-449 pubmed publisher
    ..with CHARGE syndrome (CS), an autosomal dominant condition caused by heterozygous pathogenic variants in the CHD7 gene...
  59. Tellier A, Cormier Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, et al. CHARGE syndrome: report of 47 cases and review. Am J Med Genet. 1998;76:402-9 pubmed
  60. Hurd E, Poucher H, Cheng K, Raphael Y, Martin D. The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear. Development. 2010;137:3139-50 pubmed publisher
    ..Here, we show that CHD7, an ATP-dependent chromatin remodeling enzyme mutated in human CHARGE syndrome, is necessary for proliferation of ..
  61. Alonso C, Cortés Cortés G, Maamar E, Masso M, Rocha Gracia R, Torres C, et al. Molecular diversity and conjugal transferability of class 2 integrons among Escherichia coli isolates from food, animal and human sources. Int J Antimicrob Agents. 2018;51:905-911 pubmed publisher
    ..of novel structures was identified owing to the integration of insertion sequence (IS) elements at different sites (IS3/IS4/IS5/IS21 families)...
  62. Ferrandi E, Previdi A, Bassanini I, Riva S, Peng X, Monti D. Novel thermostable amine transferases from hot spring metagenomes. Appl Microbiol Biotechnol. 2017;101:4963-4979 pubmed publisher
    ..Three novel (S)-selective ATAs, namely Is3-TA, It6-TA, and B3-TA, were discovered in the metagenome of samples collected from hot springs in Iceland and in ..
  63. Doi T, Ogata T, Yamauchi J, Sawada Y, Tanaka S, Nagao M. Chd7 Collaborates with Sox2 to Regulate Activation of Oligodendrocyte Precursor Cells after Spinal Cord Injury. J Neurosci. 2017;37:10290-10309 pubmed publisher
    ..Here, we show that chromodomain helicase DNA binding protein 7 (Chd7) regulates OPC activation after spinal cord injury (SCI)...
  64. Mendes R, Smith T, Deshpande L, Diekema D, Sader H, Jones R. Plasmid-borne vga(A)-encoding gene in methicillin-resistant Staphylococcus aureus ST398 recovered from swine and a swine farmer in the United States. Diagn Microbiol Infect Dis. 2011;71:177-80 pubmed publisher
    ..Strains were wild type for L3 and L4, but positive for vga(A) and tet(M). vga(A) was plasmid-located (ca. 24-kb) and demonstrated mobilization genes upstream and a transposase belonging to the IS3 family located downstream.
  65. Schulz Y, Freese L, Mänz J, Zoll B, Völter C, Brockmann K, et al. CHARGE and Kabuki syndromes: a phenotypic and molecular link. Hum Mol Genet. 2014;23:4396-405 pubmed publisher
    ..CHARGE syndrome is a complex developmental disorder caused by mutations in the chromodomain helicase DNA-binding gene CHD7. Kabuki syndrome, another developmental disorder, is characterized by typical facial features in combination with ..
  66. Hale C, Niederriter A, Green G, Martin D. Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. Am J Med Genet A. 2016;170A:344-354 pubmed publisher
    ..Heterozygous pathogenic variants in the chromodomain helicase DNA-binding protein 7 (CHD7) are the major cause of CHARGE syndrome, and have been identified in 70-90% of individuals fulfilling clinical ..
  67. Vuorela P, Ala Mello S, Saloranta C, Penttinen M, Poyhonen M, Huoponen K, et al. Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. Genet Med. 2007;9:690-4 pubmed
    ..cardiovascular malformations, retardation of growth, ear anomalies, and deafness, and is caused by mutations in the CHD7 gene...
  68. Bergman J, de Ronde W, Jongmans M, Wolffenbuttel B, Drop S, Hermus A, et al. The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome. J Clin Endocrinol Metab. 2012;97:E858-62 pubmed publisher
    ..in its pathogenesis, whereas CHARGE syndrome is caused by autosomal dominant mutations in only one gene, the CHD7 gene. Two independent studies showed that CHD7 mutations can also be found in a minority of KS patients...
  69. Marks W, Paris J, Schier C, Denton M, Fitting S, McQuiston A, et al. HIV-1 Tat causes cognitive deficits and selective loss of parvalbumin, somatostatin, and neuronal nitric oxide synthase expressing hippocampal CA1 interneuron subpopulations. J Neurovirol. 2016;22:747-762 pubmed
    ..in the stratum oriens, which are consistent with reductions in interneuron-specific interneuron type 3 (IS3), bistratified, and oriens-lacunosum-moleculare interneurons, respectively...
  70. Asad Z, Pandey A, Babu A, Sun Y, Shevade K, Kapoor S, et al. Rescue of neural crest-derived phenotypes in a zebrafish CHARGE model by Sox10 downregulation. Hum Mol Genet. 2016;25:3539-3554 pubmed publisher
    b>CHD7 mutations are implicated in a majority of cases of the congenital disorder, CHARGE syndrome...
  71. Bourneuf E, Otz P, Pausch H, Jagannathan V, Michot P, Grohs C, et al. Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species. Sci Rep. 2017;7:11466 pubmed publisher
    ..We report on the identification of seven dominant de novo mutations in CHD7, COL1A1, COL2A1, COPA, and MITF and exploit the structure of cattle populations to describe their clinical ..
  72. Okuno H, Renault Mihara F, Ohta S, Fukuda K, Kurosawa K, Akamatsu W, et al. CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations. elife. 2017;6: pubmed publisher
    CHARGE syndrome is caused by heterozygous mutations in the chromatin remodeler, CHD7, and is characterized by a set of malformations that, on clinical grounds, were historically postulated to arise from defects in neural crest ..
  73. Gao X, Gordon D, Zhang D, Browne R, Helms C, Gillum J, et al. CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis. Am J Hum Genet. 2007;80:957-65 pubmed
    ..0 x 10-4) centering over exons 2-4 of the CHD7 gene associated with the CHARGE (coloboma of the eye, heart defects, atresia of the choanae, retardation of growth ..
  74. Wong M, Schölvinck E, Lambeck A, van Ravenswaaij Arts C. CHARGE syndrome: a review of the immunological aspects. Eur J Hum Genet. 2015;23:1451-9 pubmed publisher
    CHARGE syndrome is caused by a dominant variant in the CHD7 gene. Multiple organ systems can be affected because of haploinsufficiency of CHD7 during embryonic development. CHARGE syndrome shares many clinical features with the 22q11...
  75. Tuluc P, Benedetti B, Coste de Bagneaux P, Grabner M, Flucher B. Two distinct voltage-sensing domains control voltage sensitivity and kinetics of current activation in CaV1.1 calcium channels. J Gen Physiol. 2016;147:437-49 pubmed publisher
    ..1a-like voltage dependence to the I VSD and that the IS3-S4 linker plus IS4 is sufficient to transfer CaV1.1e-like voltage dependence to the IV VSD...
  76. Laitinen E, Tommiska J, Sane T, Vaaralahti K, Toppari J, Raivio T. Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations. PLoS ONE. 2012;7:e39450 pubmed publisher
    ..KAL1, FGFR1, FGF8, PROK2, PROKR2, CHD7, WDR11, GNRHR, GNRH1, KISS1R, KISS1, TAC3, TACR3, and LH? were screened for mutations...
  77. Vuorela P, Penttinen M, Hietala M, Laine J, Huoponen K, Kääriäinen H. A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features. Clin Dysmorphol. 2008;17:249-53 pubmed publisher
    The autosomal dominant CHARGE syndrome (MIM musical sharp214800) is caused by mutations in the CHD7 gene. It is usually sporadic but a few cases with gonadal mosaicism and familial inheritance have been reported...
  78. Cappuccio G, Ginocchio V, Maffe A, Ungari S, Andria G, Melis D. Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype. Clin Genet. 2014;85:201-2 pubmed publisher
  79. Reynaert N, de Zegher F, Francois I, Devriendt K, Beckers D, Casteels K. Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries. Horm Res Paediatr. 2016;85:288-90 pubmed publisher
    ..diagnosis is based on the Blake-Verloes criteria and can be confirmed by identifying a mutation or deletion in the CHD7 gene...
  80. Sanlaville D, Etchevers H, Gonzales M, Martinovic J, Clement Ziza M, Delezoide A, et al. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet. 2006;43:211-217 pubmed
    ..Recently, CHD7 gene mutations have been identified in CHARGE patients; however, the function of CHD7 during development remains ..
  81. Jongmans M, Hoefsloot L, van der Donk K, Admiraal R, Magee A, Van de Laar I, et al. Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. Am J Med Genet A. 2008;146A:43-50 pubmed
    CHARGE syndrome is an autosomal dominant condition that is caused by mutations in the CHD7 gene. Few familial cases of this syndrome have been reported and these were characterized by a wide clinical variability...
  82. Wessels K, Bohnhorst B, Luhmer I, Morlot S, Bohring A, Jonasson J, et al. Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome. Eur J Med Genet. 2010;53:280-5 pubmed publisher
    ..Mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene are the major cause of CHARGE syndrome...
  83. De la Cuesta F, Baldan Martin M, Moreno Luna R, Alvarez Llamas G, Gonzalez Calero L, Mourino Alvarez L, et al. Kalirin and CHD7: novel endothelial dysfunction indicators in circulating extracellular vesicles from hypertensive patients with albuminuria. Oncotarget. 2017;8:15553-15562 pubmed publisher
    ..extracellular vesicles (EVs) showed two proteins, kalirin and chromodomain-helicase-DNA-binding protein 7 (CHD7), increased in albuminuric patients...
  84. Writzl K, Cale C, Pierce C, Wilson L, Hennekam R. Immunological abnormalities in CHARGE syndrome. Eur J Med Genet. 2007;50:338-45 pubmed
    ..We present two patients with CHARGE syndrome confirmed CHD7 mutations who had severe T-cell deficiency, and review 15 CHARGE patients from the literature with immunological ..
  85. Qi Q, Yi L, Yang C, Chen H, Shen L, Mo X, et al. [Mutation analysis of the CHD7 gene in patients with congenital heart disease]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008;25:637-41 pubmed
    To investigate the germline mutations of the CHD7 gene and their roles in patients with congenital heart disease (CHD)...
  86. Lee B, Duz M, Sagong B, Koparir A, Lee K, Choi J, et al. Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome. Gene. 2016;576:776-81 pubmed publisher
    Most cases of CHARGE syndrome are sporadic and autosomal dominant. CHD7 is a major causative gene of CHARGE syndrome...
  87. Xu C, Cassatella D, van der Sloot A, Quinton R, Hauschild M, De Geyter C, et al. Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants. Genet Med. 2018;20:872-881 pubmed publisher
    ..g., CHARGE syndrome). CHD7 mutations were reported in 60% of patients with CHARGE syndrome, and in 6% of CHH patients...