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Items: 1 to 20 of 59


Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.

Mittal R, Patel AP, Nguyen D, Pan DR, Jhaveri VM, Rudman JR, Dharmaraja A, Yan D, Feng Y, Chapagain P, Lee DJ, Blanton SH, Liu XZ.

Gene. 2018 Mar 20;647:297-305. doi: 10.1016/j.gene.2018.01.027. Epub 2018 Jan 10. Review.


Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report.

Choi HJ, Lee JS, Yu S, Cha DH, Gee HY, Choi JY, Lee JD, Jung J.

BMC Med Genet. 2017 Dec 19;18(1):151. doi: 10.1186/s12881-017-0511-7.


Identification of benthic diatoms isolated from the eastern tidal flats of the Yellow Sea: Comparison between morphological and molecular approaches.

An SM, Choi DH, Lee JH, Lee H, Noh JH.

PLoS One. 2017 Jun 16;12(6):e0179422. doi: 10.1371/journal.pone.0179422. eCollection 2017.


Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.

Iwasa YI, Nishio SY, Usami SI.

PLoS One. 2016 Dec 2;11(12):e0166781. doi: 10.1371/journal.pone.0166781. eCollection 2016.


Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss.

Ueyama T, Ninoyu Y, Nishio SY, Miyoshi T, Torii H, Nishimura K, Sugahara K, Sakata H, Thumkeo D, Sakaguchi H, Watanabe N, Usami SI, Saito N, Kitajiri SI.

EMBO Mol Med. 2016 Nov 2;8(11):1310-1324. doi: 10.15252/emmm.201606609. Print 2016 Nov.


Revisiting the Phylogeny of the Animal Formins: Two New Subtypes, Relationships with Multiple Wing Hairs Proteins, and a Lost Human Formin.

Pruyne D.

PLoS One. 2016 Oct 3;11(10):e0164067. doi: 10.1371/journal.pone.0164067. eCollection 2016.


Genetics of Nonsyndromic Congenital Hearing Loss.

Egilmez OK, Kalcioglu MT.

Scientifica (Cairo). 2016;2016:7576064. doi: 10.1155/2016/7576064. Epub 2016 Feb 18. Review.


Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases.

Greene D; NIHR BioResource, Richardson S, Turro E.

Am J Hum Genet. 2016 Mar 3;98(3):490-499. doi: 10.1016/j.ajhg.2016.01.008. Epub 2016 Feb 25.


Gene expression underlying enhanced, steroid-dependent auditory sensitivity of hair cell epithelium in a vocal fish.

Fergus DJ, Feng NY, Bass AH.

BMC Genomics. 2015 Oct 14;16:782. doi: 10.1186/s12864-015-1940-3.


Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.

Al-Maawali A, Barry BJ, Rajab A, El-Quessny M, Seman A, Coury SN, Barkovich AJ, Yang E, Walsh CA, Mochida GH, Stoler JM.

Am J Med Genet A. 2016 Feb;170A(2):435-40. doi: 10.1002/ajmg.a.37422. Epub 2015 Oct 13.


Drosophila homologue of Diaphanous 1 (DIAPH1) controls the metastatic potential of colon cancer cells by regulating microtubule-dependent adhesion.

Lin YN, Bhuwania R, Gromova K, Failla AV, Lange T, Riecken K, Linder S, Kneussel M, Izbicki JR, Windhorst S.

Oncotarget. 2015 Jul 30;6(21):18577-89.


Whole-exome sequencing and its impact in hereditary hearing loss.

Atik T, Bademci G, Diaz-Horta O, Blanton SH, Tekin M.

Genet Res (Camb). 2015 Mar 31;97:e4. doi: 10.1017/S001667231500004X. Review.


OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).

Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis MA, Thiele H, Morlot S, Hess MM, Gal A, Eisenberger T, Bergmann C, Nürnberg G, Nürnberg P, Steel KP, Knipper M, Bolz HJ.

Orphanet J Rare Dis. 2015 Feb 10;10:15. doi: 10.1186/s13023-015-0238-5.


Genetics of auditory mechano-electrical transduction.

Michalski N, Petit C.

Pflugers Arch. 2015 Jan;467(1):49-72. doi: 10.1007/s00424-014-1552-9. Epub 2014 Jun 25. Review.


Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans.

Ercan-Sencicek AG, Jambi S, Franjic D, Nishimura S, Li M, El-Fishawy P, Morgan TM, Sanders SJ, Bilguvar K, Suri M, Johnson MH, Gupta AR, Yuksel Z, Mane S, Grigorenko E, Picciotto M, Alberts AS, Gunel M, Šestan N, State MW.

Eur J Hum Genet. 2015 Feb;23(2):165-72. doi: 10.1038/ejhg.2014.82. Epub 2014 Apr 30.


Formin' cellular structures: Physiological roles of Diaphanous (Dia) in actin dynamics.

Bogdan S, Schultz J, Grosshans J.

Commun Integr Biol. 2013 Nov 1;6(6):e27634. doi: 10.4161/cib.27634. Epub 2014 Jan 8. Review.


In silico tools for splicing defect prediction: a survey from the viewpoint of end users.

Jian X, Boerwinkle E, Liu X.

Genet Med. 2014 Jul;16(7):497-503. doi: 10.1038/gim.2013.176. Epub 2013 Nov 21. Review.


SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).

Kim HJ, Won HH, Park KJ, Hong SH, Ki CS, Cho SS, Venselaar H, Vriend G, Kim JW.

PLoS One. 2013 Nov 18;8(11):e79063. doi: 10.1371/journal.pone.0079063. eCollection 2013.


Diaphanous homolog 3 (Diap3) overexpression causes progressive hearing loss and inner hair cell defects in a transgenic mouse model of human deafness.

Schoen CJ, Burmeister M, Lesperance MM.

PLoS One. 2013;8(2):e56520. doi: 10.1371/journal.pone.0056520. Epub 2013 Feb 18.


Traumatic noise activates Rho-family GTPases through transient cellular energy depletion.

Chen FQ, Zheng HW, Hill K, Sha SH.

J Neurosci. 2012 Sep 5;32(36):12421-30. doi: 10.1523/JNEUROSCI.6381-11.2012.

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