PubMed (cited) for id: 108746

Year	Number of Results
1993	1
1994	1
1997	1
2002	2
2016	1
2017	1
2024	0

1

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PKC, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA. Van Damme T, et al. Am J Hum Genet. 2017 Feb 2;100(2):216-227. doi: 10.1016/j.ajhg.2016.12.010. Epub 2017 Jan 5. Am J Hum Genet. 2017. PMID: 28065471 Free PMC article.

2

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.

Alazami AM, Al-Qattan SM, Faqeih E, Alhashem A, Alshammari M, Alzahrani F, Al-Dosari MS, Patel N, Alsagheir A, Binabbas B, Alzaidan H, Alsiddiky A, Alharbi N, Alfadhel M, Kentab A, Daza RM, Kircher M, Shendure J, Hashem M, Alshahrani S, Rahbeeni Z, Khalifa O, Shaheen R, Alkuraya FS. Alazami AM, et al. Hum Genet. 2016 May;135(5):525-540. doi: 10.1007/s00439-016-1660-z. Epub 2016 Mar 29. Hum Genet. 2016. PMID: 27023906

3

A human gene, ATP6E1, encoding a testis-specific isoform of H(+)-ATPase subunit E.

Imai-Senga Y, Sun-Wada GH, Wada Y, Futai M. Imai-Senga Y, et al. Gene. 2002 May 1;289(1-2):7-12. doi: 10.1016/s0378-1119(02)00542-5. Gene. 2002. PMID: 12036578

4

A proton pump ATPase with testis-specific E1-subunit isoform required for acrosome acidification.

Sun-Wada GH, Imai-Senga Y, Yamamoto A, Murata Y, Hirata T, Wada Y, Futai M. Sun-Wada GH, et al. J Biol Chem. 2002 May 17;277(20):18098-105. doi: 10.1074/jbc.M111567200. Epub 2002 Feb 28. J Biol Chem. 2002. PMID: 11872743 Free article.

5

Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization.

Puech A, Saint-Jore B, Funke B, Gilbert DJ, Sirotkin H, Copeland NG, Jenkins NA, Kucherlapati R, Morrow B, Skoultchi AI. Puech A, et al. Proc Natl Acad Sci U S A. 1997 Dec 23;94(26):14608-13. doi: 10.1073/pnas.94.26.14608. Proc Natl Acad Sci U S A. 1997. PMID: 9405660 Free PMC article.

6

Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase.

van Hille B, Vanek M, Richener H, Green JR, Bilbe G. van Hille B, et al. Biochem Biophys Res Commun. 1993 Nov 30;197(1):15-21. doi: 10.1006/bbrc.1993.2434. Biochem Biophys Res Commun. 1993. PMID: 8250920

7

The E subunit of vacuolar H(+)-ATPase localizes close to the centromere on human chromosome 22.

Baud V, Mears AJ, Lamour V, Scamps C, Duncan AM, McDermid HE, Lipinski M. Baud V, et al. Hum Mol Genet. 1994 Feb;3(2):335-9. doi: 10.1093/hmg/3.2.335. Hum Mol Genet. 1994. PMID: 8004105

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