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Chlamydomonas ARMC2/PF27 is an obligate cargo adapter for intraflagellar transport of radial spokes.
Lechtreck KF, Liu Y, Dai J, Alkhofash RA, Butler J, Alford L, Yang P. Lechtreck KF, et al. Elife. 2022 Jan 4;11:e74993. doi: 10.7554/eLife.74993. Elife. 2022. PMID: 34982025 Free PMC article.
Chlamydomonas ARMC2 was highly enriched in growing flagella and tagged ARMC2 and the spoke protein RSP3 co-migrated on anterograde trains. ...After concomitant unloading at the flagellar tip, RSP3 attached to the axoneme whereas ARMC2 diffused back to the cel …
Chlamydomonas ARMC2 was highly enriched in growing flagella and tagged ARMC2 and the spoke protein RSP3 co-migrated on anterog …
Broadening the ARMC2 mutational phenotype: linking multiple morphological abnormalities of the Flagella to Pulmonary Manifestations in Primary Ciliary Dyskinesia.
Wu B, Zhang W, Yu H, Ruan L, Wang K, Gu M, Geng H, Fang J, Xu C, Sheng Y, Tan Q, Shen Q, Duan Z, Wu H, Hua R, Guo R, Wei Z, Zhou P, Xu Y, Cao Y, He X, Li K, Lv M, Tang D. Wu B, et al. Reprod Biol Endocrinol. 2025 Mar 29;23(1):48. doi: 10.1186/s12958-025-01385-0. Reprod Biol Endocrinol. 2025. PMID: 40158138 Free PMC article.
Although ARMC2 is also expressed in other ciliary structures, no studies have yet reported a link between ARMC2 gene variants and other symptoms of Primary Ciliary Dyskinesia (PCD). ...This work establishes the association between ARMC2 and typical PCD and la …
Although ARMC2 is also expressed in other ciliary structures, no studies have yet reported a link between ARMC2 gene variants …
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice.
Coutton C, Martinez G, Kherraf ZE, Amiri-Yekta A, Boguenet M, Saut A, He X, Zhang F, Cristou-Kent M, Escoffier J, Bidart M, Satre V, Conne B, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Pernet-Gallay K, Bonhivers M, Hennebicq S, Rives N, Dulioust E, Touré A, Gourabi H, Cao Y, Zouari R, Hosseini SH, Nef S, Thierry-Mieg N, Arnoult C, Ray PF. Coutton C, et al. Am J Hum Genet. 2019 Feb 7;104(2):331-340. doi: 10.1016/j.ajhg.2018.12.013. Epub 2019 Jan 24. Am J Hum Genet. 2019. PMID: 30686508 Free PMC article.
Five unrelated affected individuals carried a homozygous deleterious mutation in ARMC2, a gene not previously linked to the MMAF phenotype. Using the CRISPR-Cas9 technique, we generated homozygous Armc2 mutant mice, which also presented an MMAF phenotype, thus confi …
Five unrelated affected individuals carried a homozygous deleterious mutation in ARMC2, a gene not previously linked to the MMAF phen …
Cargo adapters expand the transport range of intraflagellar transport.
Lechtreck K. Lechtreck K. J Cell Sci. 2022 Dec 15;135(24):jcs260408. doi: 10.1242/jcs.260408. Epub 2022 Dec 19. J Cell Sci. 2022. PMID: 36533425 Free PMC article. Review.
Large axonemal substructures, such as radial spokes, outer dynein arms and inner dynein arms, assemble in the cell body before attaching to IFT trains, using the adapters ARMC2, ODA16 and IDA3, respectively. Ciliary import of several membrane proteins involves the putative …
Large axonemal substructures, such as radial spokes, outer dynein arms and inner dynein arms, assemble in the cell body before attaching to …
Patient with multiple morphological abnormalities of sperm flagella caused by a novel ARMC2 mutation has a favorable pregnancy outcome from intracytoplasmic sperm injection.
Wang J, Liu X, Zhang C, Xu Y, Wang W, Li H, Yang S, Zhao J. Wang J, et al. J Assist Reprod Genet. 2022 Jul;39(7):1673-1681. doi: 10.1007/s10815-022-02516-x. Epub 2022 May 11. J Assist Reprod Genet. 2022. PMID: 35543806 Free PMC article.
CONCLUSION: We found a novel mutation in ARMC2 which led to MMAF and male infertility. This is the first report of ICSI outcome of patient harboring ARMC2 mutation. The interacting proteins indicated that ARMC2 might be involved in multiple processes of sperm …
CONCLUSION: We found a novel mutation in ARMC2 which led to MMAF and male infertility. This is the first report of ICSI outcome of pa …
Genetic etiological spectrum of sperm morphological abnormalities.
Arora M, Mehta P, Sethi S, Anifandis G, Samara M, Singh R. Arora M, et al. J Assist Reprod Genet. 2024 Nov;41(11):2877-2929. doi: 10.1007/s10815-024-03274-8. Epub 2024 Oct 17. J Assist Reprod Genet. 2024. PMID: 39417902 Review.
RESULTS: Mutations in the SUN5, CEP112, BRDT, DNAH6, PMFBP1, TSGA10, and SPATA20 genes result in acephalic sperm; mutations in the DPY19L2, SPATA16, PICK1, CCNB3, CHPT1, PIWIL4, and TDRD9 genes cause globozoospermia; mutations in the AURKC gene cause macrozoospermia; mutations in …
RESULTS: Mutations in the SUN5, CEP112, BRDT, DNAH6, PMFBP1, TSGA10, and SPATA20 genes result in acephalic sperm; mutations in the DPY19L2, …
Identification of novel homozygous asthenoteratospermia-causing ARMC2 mutations associated with multiple morphological abnormalities of the sperm flagella.
Zhao S, Liu Q, Su L, Meng L, Tan C, Wei C, Zhang H, Luo T, Zhang Q, Tan YQ, Tu C, Chen H, Gao X. Zhao S, et al. J Assist Reprod Genet. 2024 May;41(5):1297-1306. doi: 10.1007/s10815-024-03087-9. Epub 2024 Mar 16. J Assist Reprod Genet. 2024. PMID: 38492154 Free PMC article.
In vitro experiments indicated that both ARMC2 variants caused a slightly increased protein expression. ARMC2-mutant spermatozoa showed multiple morphological abnormalities (bent, short, coiled, absent, and irregular) in the flagella. In addition, the spermatozoa of …
In vitro experiments indicated that both ARMC2 variants caused a slightly increased protein expression. ARMC2-mutant spermatoz …
A novel stop-gain mutation in ARMC2 is associated with multiple morphological abnormalities of the sperm flagella.
Khan I, Dil S, Zhang H, Zhang B, Khan T, Zeb A, Zhou J, Nawaz S, Zubair M, Khan K, Ma H, Shi Q. Khan I, et al. Reprod Biomed Online. 2021 Nov;43(5):913-919. doi: 10.1016/j.rbmo.2021.07.021. Epub 2021 Aug 8. Reprod Biomed Online. 2021. PMID: 34493464
CONCLUSION: We report that a familial stop-gain mutation in ARMC2 is associated with male infertility in humans caused by MMAF accompanied with loss of CPCs and axonemal disorganization. We provide genetic evidence that ARMC2 is essential for human spermatogenesis a …
CONCLUSION: We report that a familial stop-gain mutation in ARMC2 is associated with male infertility in humans caused by MMAF accomp …
A comprehensive study of the sperm head defects in MMAF condition and their impact on embryo development in mice.
Muroňová J, Lambert E, Thamwan C, Wehbe Z, Court M, Chevalier G, Escoffier J, Kherraf ZE, Coutton C, Nef S, Ray PF, Loeuillet C, Martinez G, Arnoult C. Muroňová J, et al. Mol Hum Reprod. 2025 Jan 17;31(1):gaaf006. doi: 10.1093/molehr/gaaf006. Mol Hum Reprod. 2025. PMID: 40070084
To address these questions, a comparative study was conducted under controlled experimental conditions using four knockout (KO) mouse lines targeting Cfap43, Cfap44, Armc2, and Ccdc146 genes, all associated with MMAF syndrome in humans and mice. Each KO line underwent a de …
To address these questions, a comparative study was conducted under controlled experimental conditions using four knockout (KO) mouse lines …
Exome sequencing in genomic regions related to racing performance of Quarter Horses.
Pereira GL, Malheiros JM, Ospina AMT, Chardulo LAL, Curi RA. Pereira GL, et al. J Appl Genet. 2019 Feb;60(1):79-86. doi: 10.1007/s13353-019-00483-1. Epub 2019 Jan 21. J Appl Genet. 2019. PMID: 30666567
Thus, eight genes described as functional and positional candidates in previous studies (ABCG5, COL11A1, GEN1, SOCS3, MICAL1, SPTBN1, EPB41L3, and SHQ1) and nine new candidate genes (AKNA, ARMC2, FKBP15, LHX1, NOL10, TMEM192, ZFP37, FIG4, and HNRNPU), some of them with kno …
Thus, eight genes described as functional and positional candidates in previous studies (ABCG5, COL11A1, GEN1, SOCS3, MICAL1, SPTBN1, EPB41L …
15 results