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Year Number of Results
2017 5
2018 6
2019 7
2020 16
2021 9
2022 5
2023 6
2024 1

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43 results

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Page 1
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
Kim YJ, Kim YN, Yoon YH, Seo EJ, Seo GH, Keum C, Lee BH, Lee JY. Kim YJ, et al. Genes (Basel). 2021 Apr 30;12(5):675. doi: 10.3390/genes12050675. Genes (Basel). 2021. PMID: 33946315 Free PMC article.
Of note, WES revealed some unexpected genotypes: ABCC6, CHM, CYP4V2, RS1, TGFBI, VPS13B, and WDR19, which were verified by ophthalmological re-phenotyping....
Of note, WES revealed some unexpected genotypes: ABCC6, CHM, CYP4V2, RS1, TGFBI, VPS13B, and WDR19, which were verified by ophthalmol …
Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.
Montillot C, Skutunova E, Ayushma, Dubied M, Lahmar A, Nguyen S, Peerally B, Prin F, Duffourd Y, Thauvin-Robinet C, Duplomb L, Wang H, Ansar M, Faivre L, Navarro N, Minocha S, Collins SC, Yalcin B. Montillot C, et al. Neurobiol Dis. 2023 Sep;185:106259. doi: 10.1016/j.nbd.2023.106259. Epub 2023 Aug 12. Neurobiol Dis. 2023. PMID: 37573958 Free article.
However, the underlying mechanisms by which VPS13B disruption leads to brain dysfunction still remain unexplained. To gain insights into the neuropathogenesis of Cohen syndrome, we systematically characterized brain changes in Vps13b-mutant mice and compared murine …
However, the underlying mechanisms by which VPS13B disruption leads to brain dysfunction still remain unexplained. To gain insights i …
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray.
Bacchelli E, Cameli C, Viggiano M, Igliozzi R, Mancini A, Tancredi R, Battaglia A, Maestrini E. Bacchelli E, et al. Sci Rep. 2020 Feb 21;10(1):3198. doi: 10.1038/s41598-020-59922-3. Sci Rep. 2020. PMID: 32081867 Free PMC article.
Moreover, our study reinforced the evidence for a significant role of VPS13B, WWOX, CNTNAP2, RBFOX1, MACROD2, APBA2, PARK2, GPHN, and RNF113A genes in ASD susceptibility. ...
Moreover, our study reinforced the evidence for a significant role of VPS13B, WWOX, CNTNAP2, RBFOX1, MACROD2, APBA2, PARK2, GPHN, and …
What is new in CDG?
Jaeken J, Péanne R. Jaeken J, et al. J Inherit Metab Dis. 2017 Jul;40(4):569-586. doi: 10.1007/s10545-017-0050-6. Epub 2017 May 8. J Inherit Metab Dis. 2017. PMID: 28484880 Review.
It expands on 23 novel CDG namely defects in SLC39A8, CAD, NANS, PGM3, SSR4, POGLUT1, NUS1, GANAB, PIGY, PIGW, PIGC, PIGG, PGAP1, PGAP3, VPS13B, CCDC115, TMEM199, ATP6AP1, ATP6V1A, ATP6V1E1, TRAPPC11, XYLT1 and XYLT2. ...
It expands on 23 novel CDG namely defects in SLC39A8, CAD, NANS, PGM3, SSR4, POGLUT1, NUS1, GANAB, PIGY, PIGW, PIGC, PIGG, PGAP1, PGAP3, …
Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.
Zorn M, Kühnisch J, Bachmann S, Seifert W. Zorn M, et al. Sci Rep. 2022 Jun 11;12(1):9686. doi: 10.1038/s41598-022-13717-w. Sci Rep. 2022. PMID: 35690661 Free PMC article.
While it is well established that loss-of-function mutations of VPS13B cause Cohen syndrome, the relevance of missense variants for the pathomechanism remains unexplained. ...The overexpression of these 6/10 VPS13B missense variants did not rescue the Golgi fragment …
While it is well established that loss-of-function mutations of VPS13B cause Cohen syndrome, the relevance of missense variants for t …
A Novel Variant in VPS13B Underlying Cohen Syndrome.
Hussain A, Acharya A, Bharadwaj T, Genomics UOWCFM, Leal SM, Khaliq A, Mir A, Schrauwen I. Hussain A, et al. Biomed Res Int. 2023 Apr 12;2023:9993801. doi: 10.1155/2023/9993801. eCollection 2023. Biomed Res Int. 2023. PMID: 37090188 Free PMC article.
Pathogenic variants in vacuolar protein sorting 13 homolog B (VPS13B) cause Cohen syndrome (CS), a clinically diverse neurodevelopmental disorder. ...We identified a novel homozygous nonsense variant c.8841G > A: p.(W2947()) in VPS13B (NM_017890.5) which segregat …
Pathogenic variants in vacuolar protein sorting 13 homolog B (VPS13B) cause Cohen syndrome (CS), a clinically diverse neurodevelopmen …
Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB.
AbdelAleem A, Haddad N, Al-Ettribi G, Crunk A, Elsotouhy A. AbdelAleem A, et al. Neurogenetics. 2023 Apr;24(2):103-112. doi: 10.1007/s10048-023-00710-2. Epub 2023 Feb 13. Neurogenetics. 2023. PMID: 36780047 Free PMC article.
Diagnostic exome sequencing (ES), the applied next-generation sequencing approach, revealed the interesting finding of two novel homozygous variants in two genes: VPS13B missense variant (c.8516G > A) and NAPB splice-site loss (c.354 + 2 T > G). ...Interestingly, the …
Diagnostic exome sequencing (ES), the applied next-generation sequencing approach, revealed the interesting finding of two novel homozygous …
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, Cox GF, Curry C, de Boer E, de Vries BBA, Dunn K, Dutmer CM, England EM, Fahrner JA, Geckinli BB, Genetti CA, Gezdirici A, Gibson WT, Gleeson JG, Greenberg CR, Hall A, Hamosh A, Hartley T, Jhangiani SN, Karaca E, Kernohan K, Lauzon JL, Lewis MES, Lowry RB, López-Giráldez F, Matise TC, McEvoy-Venneri J, McInnes B, Mhanni A, Garcia Minaur S, Moilanen J, Nguyen A, Nowaczyk MJM, Posey JE, Õunap K, Pehlivan D, Pajusalu S, Penney LS, Poterba T, Prontera P, Doriqui MJR, Sawyer SL, Sobreira N, Stanley V, Torun D, Wargowski D, Witmer PD, Wong I, Xing J, Zaki MS, Zhang Y; Care4Rare Consortium; Centers for Mendelian Genomics; Boycott KM, Bamshad MJ, Nickerson DA, Blue EE, Innes AM. Dyment DA, et al. Am J Med Genet A. 2021 Jan;185(1):119-133. doi: 10.1002/ajmg.a.61926. Epub 2020 Oct 24. Am J Med Genet A. 2021. PMID: 33098347 Free PMC article.
The molecular diagnoses included biallelic variants in SKIV2L, SLC35C1, BRCA1, NSUN2; de novo variants in ARID1B, ARID1A, CREBBP, POGZ, TAF1, HDAC8, and copy-number variation at1p36.11(ARID1A), 8q22.2(VPS13B), Xp22, and Xq13(HDAC8). Variants of unknown significance in know …
The molecular diagnoses included biallelic variants in SKIV2L, SLC35C1, BRCA1, NSUN2; de novo variants in ARID1B, ARID1A, CREBBP, POGZ, TAF1 …
A novel VPS13B mutation in Cohen syndrome: a case report and review of literature.
Momtazmanesh S, Rayzan E, Shahkarami S, Rohlfs M, Klein C, Rezaei N. Momtazmanesh S, et al. BMC Med Genet. 2020 Jun 30;21(1):140. doi: 10.1186/s12881-020-01075-1. BMC Med Genet. 2020. PMID: 32605629 Free PMC article. Review.
It is associated with mutations of the vacuolar protein sorting 13 homolog B (VPS13B) gene, which is involved in the development of the ocular, hematological and central nervous systems. ...CONCLUSION: We reported a novel homozygous frameshift variant in VPS13B (LRG …
It is associated with mutations of the vacuolar protein sorting 13 homolog B (VPS13B) gene, which is involved in the development of t …
Gender-specific SBNO2 and VPS13B as a potential driver of osteoporosis development in male ankylosing spondylitis.
Li T, Liu WB, Tian FF, Jiang JJ, Wang Q, Hu FQ, Hu WH, Zhang XS. Li T, et al. Osteoporos Int. 2021 Feb;32(2):311-320. doi: 10.1007/s00198-020-05593-9. Epub 2020 Aug 15. Osteoporos Int. 2021. PMID: 32803317
To identify the critical genes and pathways that related to OP development in male AS patients, bioinformatic gene analysis and qRT-PCR validation were performed. SBNO2 and VPS13B were identified as the potential target for OP development, which may be valuable for the pre …
To identify the critical genes and pathways that related to OP development in male AS patients, bioinformatic gene analysis and qRT-PCR vali …
43 results