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Page 1
Pathogenic Variants in ACTRT1 Cause Acephalic Spermatozoa Syndrome.
Sha Y, Liu W, Li L, Serafimovski M, Isachenko V, Li Y, Chen J, Zhao B, Wang Y, Wei X. Sha Y, et al. Front Cell Dev Biol. 2021 Aug 6;9:676246. doi: 10.3389/fcell.2021.676246. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 34422805 Free PMC article.
Here, we performed whole-exome sequencing for 34 patients with acephalic spermatozoa syndrome and identified pathogenic variants in the X-linked gene, ACTRT1, in two patients. Sanger sequencing confirmed the pathogenic variants of ACTRT1 in the patients. ...Actrt …
Here, we performed whole-exome sequencing for 34 patients with acephalic spermatozoa syndrome and identified pathogenic variants in the X-li …
Loss of perinuclear theca ACTRT1 causes acrosome detachment and severe male subfertility in mice.
Zhang XZ, Wei LL, Zhang XH, Jin HJ, Chen SR. Zhang XZ, et al. Development. 2022 Jun 15;149(12):dev200489. doi: 10.1242/dev.200489. Epub 2022 Jun 21. Development. 2022. PMID: 35616329
Furthermore, we engineered Actrt1-knockout (KO) mice to define the functions of ACTRT1. Despite normal sperm count and motility, Actrt1-KO males were severely subfertile owing to a deficiency in fertilization. ...Furthermore, Actrt1-KO sperm showed red …
Furthermore, we engineered Actrt1-knockout (KO) mice to define the functions of ACTRT1. Despite normal sperm count and motilit …
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
Liu Y, Banka S, Huang Y, Hardman-Smart J, Pye D, Torrelo A, Beaman GM, Kazanietz MG, Baker MJ, Ferrazzano C, Shi C, Orozco G, Eyre S, van Geel M, Bygum A, Fischer J, Miedzybrodzka Z, Abuzahra F, Rübben A, Cuvertino S, Ellingford JM, Smith MJ, Evans DG, Weppner-Parren LJMT, van Steensel MAM, Chaudhary IH, Mangham DC, Lear JT, Paus R, Frank J, Newman WG, Zhang X. Liu Y, et al. Br J Dermatol. 2022 Dec;187(6):948-961. doi: 10.1111/bjd.21842. Epub 2022 Sep 12. Br J Dermatol. 2022. PMID: 35986704
Our modelling showed the predicted maximum tolerated minor allele frequency of ACTRT1 variants in control populations to be orders of magnitude higher than expected for a high-penetrant ultra-rare disorder, suggesting loss of function of ACTRT1 variants to be an unl …
Our modelling showed the predicted maximum tolerated minor allele frequency of ACTRT1 variants in control populations to be orders of …
Deletion of ACTRT1 is associated with male infertility as sperm acrosomal ultrastructural defects and fertilization failure in human.
Zhang Q, Jin H, Long S, Tang X, Li J, Liu W, Han W, Liao H, Fu T, Huang G, Chen S, Lin T. Zhang Q, et al. Hum Reprod. 2024 Feb 27:deae031. doi: 10.1093/humrep/deae031. Online ahead of print. Hum Reprod. 2024. PMID: 38414365
STUDY QUESTION: Could actin-related protein T1 (ACTRT1) deficiency be a potential pathogenic factor of human male infertility? ...ICSI combined with AOA effectively solved the fertilization problem in Actrt1-KO mice and in one of the two probands. LIMITATIONS, REASO …
STUDY QUESTION: Could actin-related protein T1 (ACTRT1) deficiency be a potential pathogenic factor of human male infertility? ...ICS …
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.
Bal E, Park HS, Belaid-Choucair Z, Kayserili H, Naville M, Madrange M, Chiticariu E, Hadj-Rabia S, Cagnard N, Kuonen F, Bachmann D, Huber M, Le Gall C, Côté F, Hanein S, Rosti RÖ, Aslanger AD, Waisfisz Q, Bodemer C, Hermine O, Morice-Picard F, Labeille B, Caux F, Mazereeuw-Hautier J, Philip N, Levy N, Taieb A, Avril MF, Headon DJ, Gyapay G, Magnaldo T, Fraitag S, Crollius HR, Vabres P, Hohl D, Munnich A, Smahi A. Bal E, et al. Nat Med. 2017 Oct;23(10):1226-1233. doi: 10.1038/nm.4368. Epub 2017 Sep 4. Nat Med. 2017. PMID: 28869610 Free article.
High-throughput sequencing in the four remaining families identified germline mutations in noncoding sequences surrounding ACTRT1. These mutations were located in transcribed sequences encoding enhancer RNAs (eRNAs) and were shown to impair enhancer activity and ACTRT1 …
High-throughput sequencing in the four remaining families identified germline mutations in noncoding sequences surrounding ACTRT1. Th …
Actin-related proteins.
Schafer DA, Schroer TA. Schafer DA, et al. Annu Rev Cell Dev Biol. 1999;15:341-63. doi: 10.1146/annurev.cellbio.15.1.341. Annu Rev Cell Dev Biol. 1999. PMID: 10611965 Review.
[What's new in research?].
Caux F. Caux F. Ann Dermatol Venereol. 2018 Dec;145 Suppl 7:VIIS17-VIIS23. doi: 10.1016/S0151-9638(18)31285-7. Ann Dermatol Venereol. 2018. PMID: 30583753 Review. French.
Arps: actin-related proteins.
Machesky LM, May RC. Machesky LM, et al. Results Probl Cell Differ. 2001;32:213-29. doi: 10.1007/978-3-540-46560-7_15. Results Probl Cell Differ. 2001. PMID: 11131833 Review. No abstract available.
ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies.
Park HS, Papanastasi E, Blanchard G, Chiticariu E, Bachmann D, Plomann M, Morice-Picard F, Vabres P, Smahi A, Huber M, Pich C, Hohl D. Park HS, et al. Commun Biol. 2021 May 10;4(1):544. doi: 10.1038/s42003-021-02054-9. Commun Biol. 2021. PMID: 33972689 Free PMC article.
Actin-Related Protein-Testis1 (ARP-T1)/ACTRT1 gene mutations cause the Bazex-Dupre-Christol Syndrome (BDCS) characterized by follicular atrophoderma, hypotrichosis, and basal cell cancer. ...The severity of the shortened cilia significantly correlates with the ARP-T1 level …
Actin-Related Protein-Testis1 (ARP-T1)/ACTRT1 gene mutations cause the Bazex-Dupre-Christol Syndrome (BDCS) characterized by follicul …
The Expression Patterns of Human Cancer-Testis Genes Are Induced through Epigenetic Drugs in Colon Cancer Cells.
Almutairi MH, Alrubie TM, Almutairi BO, Alamri AM, Alrefaei AF, Arafah MM, Alanazi M, Semlali A. Almutairi MH, et al. Pharmaceuticals (Basel). 2022 Oct 26;15(11):1319. doi: 10.3390/ph15111319. Pharmaceuticals (Basel). 2022. PMID: 36355490 Free PMC article.
The effects of these epigenetic treatments on the transcriptional activation of previously published CT genes (CTAG1A, SCP2D1, TKTL2, LYZL6, TEX33, and ACTRT1) and testis-specific genes (NUTM1, ASB17, ZSWIM2, ADAM2, and C10orf82) were investigated. ...
The effects of these epigenetic treatments on the transcriptional activation of previously published CT genes (CTAG1A, SCP2D1, TKTL2, LYZL6, …
16 results