These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

110 related articles for article (PubMed ID: 35781022)

  • 1. Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene.
    Coursimault J; Goldenberg A; Nicolas G; Saugier-Veber P; Coutant S; Vincent A; Pouliquen D; Feltin C; Aref-Eshghi E; Sadikovic B; Lecoquierre F
    Eur J Med Genet; 2022 Sep; 65(9):104556. PubMed ID: 35781022
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in
    Schenkel LC; Aref-Eshghi E; Skinner C; Ainsworth P; Lin H; Paré G; Rodenhiser DI; Schwartz C; Sadikovic B
    Clin Epigenetics; 2018; 10():21. PubMed ID: 29456765
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes-Jensen syndrome.
    Hatch HAM; Secombe J
    FEBS J; 2022 Dec; 289(24):7776-7787. PubMed ID: 34536985
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Two cases of X-linked mental retardation, Claes-Jensen syndrome caused by variation of KDM5C gene].
    Wang YR; Miao LY; Xu YF; Chen Y; Ding Y; Li J; Wang J; Wang XM; Huang XD
    Zhonghua Er Ke Za Zhi; 2020 May; 58(5):426-427. PubMed ID: 32392963
    [TBL] [Abstract][Full Text] [Related]  

  • 5. DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation.
    Guerra JVS; Oliveira-Santos J; Oliveira DF; Leal GF; Oliveira JRM; Costa SS; Krepischi ACV; Vianna-Morgante AM; Maschietto M
    Eur J Med Genet; 2020 Mar; 63(3):103737. PubMed ID: 31419599
    [TBL] [Abstract][Full Text] [Related]  

  • 6. KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.
    Gonçalves TF; Gonçalves AP; Fintelman Rodrigues N; dos Santos JM; Pimentel MM; Santos-Rebouças CB
    Eur J Med Genet; 2014 Mar; 57(4):138-44. PubMed ID: 24583395
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
    Brookes E; Laurent B; Õunap K; Carroll R; Moeschler JB; Field M; Schwartz CE; Gecz J; Shi Y
    Hum Mol Genet; 2015 May; 24(10):2861-72. PubMed ID: 25666439
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Sexually Dimorphic Alterations in the Transcriptome and Behavior with Loss of Histone Demethylase
    Bonefas KM; Vallianatos CN; Raines B; Tronson NC; Iwase S
    Cells; 2023 Feb; 12(4):. PubMed ID: 36831303
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Clinical phenotype and genetic analysis of a Chinese patient featuring X-linked Claes-Jensen type syndromic mental retardation].
    Gao M; Xing M; Zhang K; Lyu Y; Ma J; Gai Z; Liu Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jul; 37(7):736-738. PubMed ID: 32619253
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Expanding the Spectrum of
    Lintas C; Bottillo I; Sacco R; Azzarà A; Cassano I; Ciccone MP; Grammatico P; Gurrieri F
    Genes (Basel); 2022 Dec; 13(12):. PubMed ID: 36553533
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
    Leonardi E; Aspromonte MC; Drongitis D; Bettella E; Verrillo L; Polli R; McEntagart M; Licchetta L; Dilena R; D'Arrigo S; Ciaccio C; Esposito S; Leuzzi V; Torella A; Baldo D; Lonardo F; Bonato G; Pellegrin S; Stanzial F; Posmyk R; Kaczorowska E; Carecchio M; Gos M; Rzońca-Niewczas S; Miano MG; Murgia A
    Eur J Hum Genet; 2023 Feb; 31(2):202-215. PubMed ID: 36434256
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype.
    Shen R; Li Y; Liang A; Li S; Yang C; Huang H
    BMC Neurol; 2022 Dec; 22(1):491. PubMed ID: 36536324
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.
    Lippa NC; Barua S; Aggarwal V; Pereira E; Bain JM
    BMC Neurol; 2021 Sep; 21(1):358. PubMed ID: 34530748
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
    Carmignac V; Nambot S; Lehalle D; Callier P; Moortgat S; Benoit V; Ghoumid J; Delobel B; Smol T; Thuillier C; Zordan C; Naudion S; Bienvenu T; Touraine R; Ramond F; Zweier C; Reis A; Kraus C; Nizon M; Cogné B; Verloes A; Tran Mau-Them F; Sorlin A; Jouan T; Duffourd Y; Tisserant E; Philippe C; Vitobello A; Thevenon J; Faivre L; Thauvin-Robinet C
    Clin Genet; 2020 Jul; 98(1):43-55. PubMed ID: 32279304
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Clinical features and gene variant of a pedigree affected with X-linked recessive mental retardation Claes-Jensen type].
    Ding N; Zhang P; Mao Y; Feng S; Gao Z; Chen Q; Zhang X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Dec; 37(12):1352-1355. PubMed ID: 33306820
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation.
    Vallianatos CN; Raines B; Porter RS; Bonefas KM; Wu MC; Garay PM; Collette KM; Seo YA; Dou Y; Keegan CE; Tronson NC; Iwase S
    Commun Biol; 2020 Jun; 3(1):278. PubMed ID: 32483278
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures.
    Poeta L; Padula A; Lioi MB; van Bokhoven H; Miano MG
    Genes (Basel); 2021 Jul; 12(7):. PubMed ID: 34356104
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Caregiver-reported characteristics of children diagnosed with pathogenic variants in KDM5C.
    Hatch HAM; O'Neil MH; Marion RW; Secombe J; Shulman LH
    Am J Med Genet A; 2021 Oct; 185(10):2951-2958. PubMed ID: 34089235
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability.
    Vallianatos CN; Farrehi C; Friez MJ; Burmeister M; Keegan CE; Iwase S
    Front Mol Neurosci; 2018; 11():104. PubMed ID: 29670509
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone Methylation.
    Iwase S; Brookes E; Agarwal S; Badeaux AI; Ito H; Vallianatos CN; Tomassy GS; Kasza T; Lin G; Thompson A; Gu L; Kwan KY; Chen C; Sartor MA; Egan B; Xu J; Shi Y
    Cell Rep; 2016 Feb; 14(5):1000-1009. PubMed ID: 26804915
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.