Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1996 1
1998 1
2001 1
2004 1
2005 1
2008 1
2009 1
2010 1
2012 2
2013 4
2014 1
2015 2
2016 3
2018 2
2019 2
2020 1
2021 1
2022 6
2023 6
2024 4

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

38 results

Results by year

Filters applied: . Clear all
Page 1
EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity.
Bhavani GS, Singh S, Girisha KM. Bhavani GS, et al. 2023 May 25. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2023 May 25. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 37229238 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity (EXOC6B-SEMD-JL) is characterized by multiple joint dislocations, joint laxity, genu valgum, short stature, and skeletal dysplasia. ...Once the EXOC6B pathogenic varia …
CLINICAL CHARACTERISTICS: EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity (EXOC6B-SEMD-JL) is characterized …
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
Simsek-Kiper PO, Jacob P, Upadhyai P, Taşkıran ZE, Guleria VS, Karaosmanoglu B, Imren G, Gocmen R, Bhavani GS, Kausthubham N, Shah H, Utine GE, Boduroglu K, Girisha KM. Simsek-Kiper PO, et al. Hum Mutat. 2022 Dec;43(12):2116-2129. doi: 10.1002/humu.24478. Epub 2022 Oct 8. Hum Mutat. 2022. PMID: 36150098 Free PMC article. Review.
Spondylo-epi-metaphyseal dysplasias with joint laxity, type 3 (SEMDJL3) is a genetic skeletal disorder characterized by multiple joint dislocations, caused by biallelic pathogenic variants in the EXOC6B gene. Only four individuals from two families have been reported to ha …
Spondylo-epi-metaphyseal dysplasias with joint laxity, type 3 (SEMDJL3) is a genetic skeletal disorder characterized by multiple joint dislo …
Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
Evers C, Maas B, Koch KA, Jauch A, Janssen JW, Sutter C, Parker MJ, Hinderhofer K, Moog U. Evers C, et al. Am J Med Genet A. 2014 Dec;164A(12):3088-94. doi: 10.1002/ajmg.a.36770. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25256811
Little is known about the effect of EXOC6B haploinsufficiency. In 2008, a patient with a complex syndromic phenotype, including left renal agenesis, neutropenia, recurrent pulmonary infections, long bone diaphysis broadening, growth retardation, and developmental delay (DD …
Little is known about the effect of EXOC6B haploinsufficiency. In 2008, a patient with a complex syndromic phenotype, including left …
Early insights into the role of Exoc6B associated with spondyloepimetaphyseal dysplasia with joint laxity type 3 in primary ciliogenesis and chondrogenic differentiation in vitro.
Guleria VS, Quadri N, Prasad K, Das R, Upadhyai P. Guleria VS, et al. Mol Biol Rep. 2024 Feb 2;51(1):274. doi: 10.1007/s11033-023-09114-9. Mol Biol Rep. 2024. PMID: 38305850
So far, EXOC6B and the pathomechanisms underlying SEMDJL3 remain obscure. METHODS AND RESULTS: Exoc6b was detected largely at the perinuclear regions and the primary cilia base in ATDC5 prechondrocytes. ...Exoc6b knockdown deregulated the mRNA and protein lev …
So far, EXOC6B and the pathomechanisms underlying SEMDJL3 remain obscure. METHODS AND RESULTS: Exoc6b was detected largely at …
The short inverted repeats-induced circEXOC6B inhibits prostate cancer metastasis by enhancing the binding of RBMS1 and HuR.
Zhang C, Wang S, Chao F, Jia G, Ye X, Han D, Wei Z, Liu J, Xu G, Chen G. Zhang C, et al. Mol Ther. 2023 Jun 7;31(6):1705-1721. doi: 10.1016/j.ymthe.2022.08.006. Epub 2022 Aug 15. Mol Ther. 2023. PMID: 35974702 Free PMC article.
Functionally, circEXOC6B, originating from the exocyst complex component 6B (EXOC6B) gene, inhibited migration and invasion of PCa in vitro and in vivo. Mechanistically, by acting as a protein scaffold, circEXOC6B enhanced the binding of human RNA binding motif single stra …
Functionally, circEXOC6B, originating from the exocyst complex component 6B (EXOC6B) gene, inhibited migration and invasion of PCa in …
A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.
Girisha KM, Kortüm F, Shah H, Alawi M, Dalal A, Bhavani GS, Kutsche K. Girisha KM, et al. Eur J Hum Genet. 2016 Aug;24(8):1206-10. doi: 10.1038/ejhg.2015.261. Epub 2015 Dec 16. Eur J Hum Genet. 2016. PMID: 26669664 Free PMC article.
Single-nucleotide polymorphism array analysis and whole-exome sequencing in the two affected siblings revealed a shared homozygous nonsense variant [c.906T>A/p.(Tyr302*)] in EXOC6B as the most likely cause. EXOC6B encodes a component of the exocyst complex requir …
Single-nucleotide polymorphism array analysis and whole-exome sequencing in the two affected siblings revealed a shared homozygous nonsense …
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
Frühmesser A, Blake J, Haberlandt E, Baying B, Raeder B, Runz H, Spreiz A, Fauth C, Benes V, Utermann G, Zschocke J, Kotzot D. Frühmesser A, et al. Eur J Hum Genet. 2013 Oct;21(10):1177-80. doi: 10.1038/ejhg.2013.18. Epub 2013 Feb 20. Eur J Hum Genet. 2013. PMID: 23422942 Free PMC article.
No gene was found at the respective breakpoint on chromosome 8. Expression analysis of the EXOC6B in blood lymphocytes and buccal smear revealed reduced expression in the patient in comparison with the control. Our findings in combination with one recently published case a …
No gene was found at the respective breakpoint on chromosome 8. Expression analysis of the EXOC6B in blood lymphocytes and buccal sme …
Functional characterisation of human cells harbouring a novel t(2p;7p) translocation involving TNS3 and EXOC6B genes.
Ludwig D, Carter J, Smith JR, Borsani G, Barlati S, Hafizi S. Ludwig D, et al. BMC Med Genet. 2013 Jun 28;14:65. doi: 10.1186/1471-2350-14-65. BMC Med Genet. 2013. PMID: 23809228 Free PMC article.
A novel chromosomal translocation, t(2;7)(p13;p12), present in a patient with a complex syndromic phenotype, directly involves Tensin3 (TNS3) and EXOC6B genes. This translocation could impair the expression of Tensin3 and ExoC6B proteins, and potentially produce two …
A novel chromosomal translocation, t(2;7)(p13;p12), present in a patient with a complex syndromic phenotype, directly involves Tensin3 (TNS3 …
Prognostication of early-onset endometrioid endometrial cancer based on genome-wide DNA methylation profiles.
Hirano T, Arai E, Fujimoto M, Nakayama Y, Tian Y, Ito N, Makabe T, Yamagami W, Susumu N, Aoki D, Kanai Y. Hirano T, et al. J Gynecol Oncol. 2022 Nov;33(6):e74. doi: 10.3802/jgo.2022.33.e74. Epub 2022 Aug 16. J Gynecol Oncol. 2022. PMID: 36047377 Free PMC article.
CONCLUSIONS: DNA methylation diagnostics criteria using up to 6 of 8 CpG sites for LPP, FOXO1, RNF4, EXOC6B, CCPG1, RREB1 and ZBTB38 may be applicable to recurrence risk estimation for patients aged 40 years or less with endometrial cancer, regardless of tumor cell content …
CONCLUSIONS: DNA methylation diagnostics criteria using up to 6 of 8 CpG sites for LPP, FOXO1, RNF4, EXOC6B, CCPG1, RREB1 and ZBTB38 …
38 results