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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1999 | 2 |
2004 | 1 |
2017 | 1 |
2021 | 1 |
2022 | 1 |
2023 | 1 |
2024 | 0 |
PubMed (cited) for id: 605868
7 results
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Page 1
A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.
Hum Mol Genet. 2023 Mar 20;32(7):1083-1089. doi: 10.1093/hmg/ddac267.
Hum Mol Genet. 2023.
PMID: 36300302
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Pater JA, Penney C, O'Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young TL.
Pater JA, et al.
Hum Genet. 2022 Apr;141(3-4):431-444. doi: 10.1007/s00439-022-02444-x. Epub 2022 Mar 12.
Hum Genet. 2022.
PMID: 35278131
Free PMC article.
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A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes.
Segawa K, Kikuchi A, Noji T, Sugiura Y, Hiraga K, Suzuki C, Haginoya K, Kobayashi Y, Matsunaga M, Ochiai Y, Yamada K, Nishimura T, Iwasawa S, Shoji W, Sugihara F, Nishino K, Kosako H, Ikawa M, Uchiyama Y, Suematsu M, Ishikita H, Kure S, Nagata S.
Segawa K, et al.
J Clin Invest. 2021 Sep 15;131(18):e148005. doi: 10.1172/JCI148005.
J Clin Invest. 2021.
PMID: 34403372
Free PMC article.
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AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance.
Lang-Roth R, Fischer-Krall E, Kornblum C, Nürnberg G, Meschede D, Goebel I, Nürnberg P, Beutner D, Kubisch C, Walger M, Volk AE.
Lang-Roth R, et al.
Audiol Neurootol. 2017;22(1):30-40. doi: 10.1159/000474929. Epub 2017 Jun 10.
Audiol Neurootol. 2017.
PMID: 28601886
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X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.
Andrew Nesbit M, Bowl MR, Harding B, Schlessinger D, Whyte MP, Thakker RV.
Andrew Nesbit M, et al.
Genomics. 2004 Dec;84(6):1060-70. doi: 10.1016/j.ygeno.2004.08.003.
Genomics. 2004.
PMID: 15533723
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Differential expression of putative transbilayer amphipath transporters.
Halleck MS, Lawler JF JR, Blackshaw S, Gao L, Nagarajan P, Hacker C, Pyle S, Newman JT, Nakanishi Y, Ando H, Weinstock D, Williamson P, Schlegel RA.
Halleck MS, et al.
Physiol Genomics. 1999 Nov 11;1(3):139-50. doi: 10.1152/physiolgenomics.1999.1.3.139.
Physiol Genomics. 1999.
PMID: 11015572
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Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O.
Kikuno R, et al.
DNA Res. 1999 Jun 30;6(3):197-205. doi: 10.1093/dnares/6.3.197.
DNA Res. 1999.
PMID: 10470851
Free article.
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