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CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories.
Amenta S, Marangi G, Orteschi D, Frangella S, Gurrieri F, Paccagnella E; Telethon Undiagnosed Diseases Program (TUDP) Study Group; Scala M, Romano F, Capra V, Nigro V, Zollino M. Amenta S, et al. Eur J Hum Genet. 2023 Jun;31(6):648-653. doi: 10.1038/s41431-023-01305-z. Epub 2023 Feb 16. Eur J Hum Genet. 2023. PMID: 36797464 Review.
CHAMP1 haploinsufficiency results in borderline ID with negligible consequences on the quality of life. ...We tentatively define for the first time distinct categories among the CHAMP1-related disorder on the basis of pathomechanisms....
CHAMP1 haploinsufficiency results in borderline ID with negligible consequences on the quality of life. ...We tentatively define for
CHAMP1 binds to REV7/FANCV and promotes homologous recombination repair.
Li F, Sarangi P, Iyer DR, Feng H, Moreau L, Nguyen H, Clairmont C, D'Andrea AD. Li F, et al. Cell Rep. 2022 Aug 30;40(9):111297. doi: 10.1016/j.celrep.2022.111297. Cell Rep. 2022. PMID: 36044844 Free PMC article.
Here, we show that binding of CHAMP1 to REV7 activates homologous recombination (HR) repair. Mechanistically, CHAMP1 binds directly to REV7 and reduces the level of the Shieldin complex, causing an increase in double-strand break end resection. CHAMP1 also in …
Here, we show that binding of CHAMP1 to REV7 activates homologous recombination (HR) repair. Mechanistically, CHAMP1 binds dir …
CHAMP1-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature.
Abi Raad S, Yazbeck Karam V, Chouery E, Mehawej C, Megarbane A. Abi Raad S, et al. Genes (Basel). 2023 Jul 28;14(8):1546. doi: 10.3390/genes14081546. Genes (Basel). 2023. PMID: 37628598 Free PMC article. Review.
Recent advancements in genomic studies and clinical genetic testing have identified numerous genes associated with neurodevelopmental disorders (NDDs), including ID. One such gene is CHAMP1, which plays a role in chromosome alignment and has been linked to a specific type …
Recent advancements in genomic studies and clinical genetic testing have identified numerous genes associated with neurodevelopmental disord …
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency.
Levy T, Pichardo T, Silver H, Lerman B, Zweifach J, Halpern D, Siper PM, Kolevzon A, Buxbaum JD. Levy T, et al. Hum Genet. 2023 Sep;142(9):1385-1394. doi: 10.1007/s00439-023-02578-6. Epub 2023 Jul 16. Hum Genet. 2023. PMID: 37454340 Free PMC article.
CHAMP1 disorder is a genetic neurodevelopmental condition caused by mutations in the CHAMP1 gene that result in premature termination codons. ...To date, no studies have directly assessed differences between individuals with mutations in CHAMP1 to those with
CHAMP1 disorder is a genetic neurodevelopmental condition caused by mutations in the CHAMP1 gene that result in premature term
CHAMP1-POGZ counteracts the inhibitory effect of 53BP1 on homologous recombination and affects PARP inhibitor resistance.
Fujita H, Ikeda M, Ui A, Ouchi Y, Mikami Y, Kanno SI, Yasui A, Tanaka K. Fujita H, et al. Oncogene. 2022 May;41(19):2706-2718. doi: 10.1038/s41388-022-02299-6. Epub 2022 Apr 7. Oncogene. 2022. PMID: 35393543
CHAMP1 depletion suppressed the recruitment of BRCA1, but not the recruitment of 53BP1, suggesting that CHAMP1 regulates DSB repair pathway in favor of HR. Depletion of either CHAMP1 or POGZ impaired the recruitment of phosphorylated RPA2 and CtIP (CtBP-inter
CHAMP1 depletion suppressed the recruitment of BRCA1, but not the recruitment of 53BP1, suggesting that CHAMP1 regulates DSB r
CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms.
Levy T, Lerman B, Halpern D, Frank Y, Layton C, Zweifach J, Siper PM, Buxbaum JD, Kolevzon A. Levy T, et al. Hum Mol Genet. 2022 Aug 17;31(15):2582-2594. doi: 10.1093/hmg/ddac018. Hum Mol Genet. 2022. PMID: 35271727 Free PMC article.
CHAMP1-related neurodevelopmental disorder, or CHAMP1 disorder, is a recently described genetic syndrome associated with developmental delay, intellectual disability, behavioral symptoms, medical comorbidities, and dysmorphic features. ...Here, we present deep pheno
CHAMP1-related neurodevelopmental disorder, or CHAMP1 disorder, is a recently described genetic syndrome associated with devel
Deficiency of CHAMP1, a gene related to intellectual disability, causes impaired neuronal development and a mild behavioural phenotype.
Nagai M, Iemura K, Kikkawa T, Naher S, Hattori S, Hagihara H, Nagata KI, Anzawa H, Kugisaki R, Wanibuchi H, Abe T, Inoue K, Kinoshita K, Miyakawa T, Osumi N, Tanaka K. Nagai M, et al. Brain Commun. 2022 Aug 30;4(5):fcac220. doi: 10.1093/braincomms/fcac220. eCollection 2022. Brain Commun. 2022. PMID: 36106092 Free PMC article.
To explore the neuronal defects caused by CHAMP1 deficiency, we established mice that lack CHAMP1. Mice that are homozygous knockout for CHAMP1 were slightly smaller than wild-type mice and died soon after birth on pure C57BL/6J background. ...Neuronal differ …
To explore the neuronal defects caused by CHAMP1 deficiency, we established mice that lack CHAMP1. Mice that are homozygous kn …
Chromosome alignment-maintaining phosphoprotein CHAMP1 plays a role in cell survival through regulating Mcl-1 expression.
Hino M, Iemura K, Ikeda M, Itoh G, Tanaka K. Hino M, et al. Cancer Sci. 2021 Sep;112(9):3711-3721. doi: 10.1111/cas.15018. Epub 2021 Jul 16. Cancer Sci. 2021. PMID: 34107118 Free PMC article.
Depletion CHAMP1 reduces the expression of antiapoptotic Bcl-2 family proteins, especially Mcl-1. ...Our data suggest that CHAMP1 plays a role in the maintenance of Mcl-1 expression, implying that CHAMP1 can be a target to overcome the resistance to antimitot …
Depletion CHAMP1 reduces the expression of antiapoptotic Bcl-2 family proteins, especially Mcl-1. ...Our data suggest that CHAMP1
Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1.
Garrity M, Kavus H, Rojas-Vasquez M, Valenzuela I, Larson A, Reed S, Bellus G, Mignot C, Munnich A, Isidor B, Chung WK. Garrity M, et al. Cold Spring Harb Mol Case Stud. 2021 Aug 2;7(4):a006092. doi: 10.1101/mcs.a006092. Print 2021 Aug. Cold Spring Harb Mol Case Stud. 2021. PMID: 34021018 Free PMC article.
De novo pathogenic variants in CHAMP1 (chromosome alignment maintaining phosphoprotein 1), which encodes kinetochore-microtubule associated protein on 13q34, cause a rare neurodevelopmental disorder. We enrolled 14 individuals with pathogenic variants in CHAMP1 that …
De novo pathogenic variants in CHAMP1 (chromosome alignment maintaining phosphoprotein 1), which encodes kinetochore-microtubule asso …
29 results