Similar articles for PMID: 29590114

Year	Number of Results
1998	2
1999	2
2000	2
2002	1
2003	3
2004	1
2006	5
2007	7
2008	1
2009	1
2011	3
2012	3
2013	7
2014	7
2015	8
2016	5
2017	8
2018	7
2019	7
2020	5
2021	5
2022	3
2023	2
2024	0

1

Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.

Yousaf R, Gu C, Ahmed ZM, Khan SN, Friedman TB, Riazuddin S, Shears SB, Riazuddin S. Yousaf R, et al. PLoS Genet. 2018 Mar 28;14(3):e1007297. doi: 10.1371/journal.pgen.1007297. eCollection 2018 Mar. PLoS Genet. 2018. PMID: 29590114 Free PMC article.

2

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.

Bademci G, Abad C, Incesulu A, Rad A, Alper O, Kolb SM, Cengiz FB, Diaz-Horta O, Silan F, Mihci E, Ocak E, Najafi M, Maroofian R, Yilmaz E, Nur BG, Duman D, Guo S, Sant DW, Wang G, Monje PV, Haaf T, Blanton SH, Vona B, Walz K, Tekin M. Bademci G, et al. Hum Genet. 2018 Jul;137(6-7):479-486. doi: 10.1007/s00439-018-1901-4. Epub 2018 Jul 7. Hum Genet. 2018. PMID: 29982980 Free PMC article.

3

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment.

Schrauwen I, Chakchouk I, Liaqat K, Jan A, Nasir A, Hussain S, Nickerson DA, Bamshad MJ, Ullah A, Ahmad W, Leal SM. Schrauwen I, et al. Hum Genet. 2018 Jul;137(6-7):471-478. doi: 10.1007/s00439-018-1899-7. Epub 2018 Jul 3. Hum Genet. 2018. PMID: 29971487 Free PMC article.

4

The Significance of the Bifunctional Kinase/Phosphatase Activities of Diphosphoinositol Pentakisphosphate Kinases (PPIP5Ks) for Coupling Inositol Pyrophosphate Cell Signaling to Cellular Phosphate Homeostasis.

Gu C, Nguyen HN, Hofer A, Jessen HJ, Dai X, Wang H, Shears SB. Gu C, et al. J Biol Chem. 2017 Mar 17;292(11):4544-4555. doi: 10.1074/jbc.M116.765743. Epub 2017 Jan 26. J Biol Chem. 2017. PMID: 28126903 Free PMC article.

5

The kinetic properties of a human PPIP5K reveal that its kinase activities are protected against the consequences of a deteriorating cellular bioenergetic environment.

Weaver JD, Wang H, Shears SB. Weaver JD, et al. Biosci Rep. 2013 Feb 5;33(2):e00022. doi: 10.1042/BSR20120115. Biosci Rep. 2013. PMID: 23240582 Free PMC article.

6

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.

Vona B, Mazaheri N, Lin SJ, Dunbar LA, Maroofian R, Azaiez H, Booth KT, Vitry S, Rad A, Rüschendorf F, Varshney P, Fowler B, Beetz C, Alagramam KN, Murphy D, Shariati G, Sedaghat A, Houlden H, Petree C, VijayKumar S, Smith RJH, Haaf T, El-Amraoui A, Bowl MR, Varshney GK, Galehdari H. Vona B, et al. Hum Genet. 2021 Jun;140(6):915-931. doi: 10.1007/s00439-020-02254-z. Epub 2021 Jan 26. Hum Genet. 2021. PMID: 33496845 Free PMC article.

7

ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.

Bharadwaj T, Schrauwen I, Rehman S, Liaqat K, Acharya A, Giese APJ, Nouel-Saied LM, Nasir A, Everard JL, Pollock LM, Zhu S, Bamshad MJ, Nickerson DA, Ali RH, Ullah A, Wali A, Ali G, Santos-Cortez RLP, Ahmed ZM, McDermott BM Jr, Ansar M, Riazuddin S, Ahmad W, Leal SM. Bharadwaj T, et al. Eur J Hum Genet. 2022 Jan;30(1):22-33. doi: 10.1038/s41431-021-00913-x. Epub 2021 Jun 16. Eur J Hum Genet. 2022. PMID: 34135477 Free PMC article.

8

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.

Wesdorp M, Murillo-Cuesta S, Peters T, Celaya AM, Oonk A, Schraders M, Oostrik J, Gomez-Rosas E, Beynon AJ, Hartel BP, Okkersen K, Koenen HJPM, Weeda J, Lelieveld S, Voermans NC, Joosten I, Hoyng CB, Lichtner P, Kunst HPM, Feenstra I, de Bruijn SE; DOOFNL Consortium; Admiraal RJC, Yntema HG, van Wijk E, Del Castillo I, Serra P, Varela-Nieto I, Pennings RJE, Kremer H. Wesdorp M, et al. Am J Hum Genet. 2018 Jul 5;103(1):74-88. doi: 10.1016/j.ajhg.2018.05.011. Epub 2018 Jun 28. Am J Hum Genet. 2018. PMID: 29961571 Free PMC article.

9

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.

Santos-Cortez RL, Lee K, Azeem Z, Antonellis PJ, Pollock LM, Khan S, Irfanullah, Andrade-Elizondo PB, Chiu I, Adams MD, Basit S, Smith JD; University of Washington Center for Mendelian Genomics; Nickerson DA, McDermott BM Jr, Ahmad W, Leal SM. Santos-Cortez RL, et al. Am J Hum Genet. 2013 Jul 11;93(1):132-40. doi: 10.1016/j.ajhg.2013.05.018. Epub 2013 Jun 13. Am J Hum Genet. 2013. PMID: 23768514 Free PMC article.

10

Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation.

Su X, Feng Y, Rahman SA, Wu S, Li G, Rüschendorf F, Zhao L, Cui H, Liang J, Fang L, Hu H, Froehler S, Yu Y, Patone G, Hummel O, Chen Q, Raile K, Luft FC, Bähring S, Hussain K, Chen W, Zhang J, Gong M. Su X, et al. J Genet Genomics. 2020 Oct 20;47(10):618-626. doi: 10.1016/j.jgg.2020.07.008. Epub 2020 Oct 28. J Genet Genomics. 2020. PMID: 33358777

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