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The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility.
Clin Genet. 2021 May;99(5):684-693. doi: 10.1111/cge.13927. Epub 2021 Jan 25.
Clin Genet. 2021.
PMID: 33462806
A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.
Lorès P, Kherraf ZE, Amiri-Yekta A, Whitfield M, Daneshipour A, Stouvenel L, Cazin C, Cavarocchi E, Coutton C, Llabador MA, Arnoult C, Thierry-Mieg N, Ferreux L, Patrat C, Hosseini SH, Mustapha SFB, Zouari R, Dulioust E, Ray PF, Touré A.
Lorès P, et al. Among authors: cavarocchi e.
Hum Genet. 2021 Jul;140(7):1031-1043. doi: 10.1007/s00439-021-02270-7. Epub 2021 Mar 10.
Hum Genet. 2021.
PMID: 33689014
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Correction to: A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.
Lorès P, Kherraf ZE, Amiri-Yekta A, Whitfield M, Daneshipour A, Stouvenel L, Cazin C, Cavarocchi E, Coutton C, Llabador MA, Arnoult C, Thierry-Mieg N, Ferreux L, Patrat C, Hosseini SH, Mustapha SFB, Zouari R, Dulioust E, Ray PF, Touré A.
Lorès P, et al. Among authors: cavarocchi e.
Hum Genet. 2021 Jul;140(7):1045. doi: 10.1007/s00439-021-02278-z.
Hum Genet. 2021.
PMID: 33770252
No abstract available.
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Sperm Ion Transporters and Channels in Human Asthenozoospermia: Genetic Etiology, Lessons from Animal Models, and Clinical Perspectives.
Cavarocchi E, Whitfield M, Saez F, Touré A.
Cavarocchi E, et al.
Int J Mol Sci. 2022 Apr 1;23(7):3926. doi: 10.3390/ijms23073926.
Int J Mol Sci. 2022.
PMID: 35409285
Free PMC article.
Review.
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CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans.
Jreijiri F, Cavarocchi E, Amiri-Yekta A, Cazin C, Hosseini SH, El Khouri E, Patrat C, Thierry-Mieg N, Ray PF, Dulioust E, Whitfield M, Touré A.
Jreijiri F, et al. Among authors: cavarocchi e.
Clin Genet. 2024 Mar;105(3):317-322. doi: 10.1111/cge.14459. Epub 2023 Nov 17.
Clin Genet. 2024.
PMID: 37975235
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Identification of IQCH as a calmodulin-associated protein required for sperm motility in humans.
Cavarocchi E, Sayou C, Lorès P, Cazin C, Stouvenel L, El Khouri E, Coutton C, Kherraf ZE, Patrat C, Govin J, Thierry-Mieg N, Whitfield M, Ray PF, Dulioust E, Touré A.
Cavarocchi E, et al.
iScience. 2023 Jul 10;26(8):107354. doi: 10.1016/j.isci.2023.107354. eCollection 2023 Aug 18.
iScience. 2023.
PMID: 37520705
Free PMC article.
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Kitten Scanner reduces the use of sedation in pediatric MRI.
Cavarocchi E, Pieroni I, Serio A, Velluto L, Guarnieri B, Sorbi S.
Cavarocchi E, et al.
J Child Health Care. 2019 Jun;23(2):256-265. doi: 10.1177/1367493518788476. Epub 2018 Jul 26.
J Child Health Care. 2019.
PMID: 30049224
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