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Items: 1 to 20 of 33

1.

Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing.

Lin XF, Luo JW, Liu G, Zhu YB, Jin Z, Lin X.

Mol Med Rep. 2018 Nov;18(5):4271-4280. doi: 10.3892/mmr.2018.9455. Epub 2018 Sep 5.

2.

A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome.

Wang YG, Sun SP, Qiu YL, Xing QH, Lu W.

BMC Med Genet. 2018 Aug 7;19(1):139. doi: 10.1186/s12881-018-0653-2.

3.

Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing.

Kammoun M, Souche E, Brady P, Ding J, Cosemans N, Gratacos E, Devriendt K, Eixarch E, Deprest J, Vermeesch JR.

Prenat Diagn. 2018 Aug;38(9):654-663. doi: 10.1002/pd.5327. Epub 2018 Jul 19.

PMID:
29966037
4.

Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome.

Unzaki A, Morisada N, Nozu K, Ye MJ, Ito S, Matsunaga T, Ishikura K, Ina S, Nagatani K, Okamoto T, Inaba Y, Ito N, Igarashi T, Kanda S, Ito K, Omune K, Iwaki T, Ueno K, Yahata M, Ohtsuka Y, Nishi E, Takahashi N, Ishikawa T, Goto S, Okamoto N, Iijima K.

J Hum Genet. 2018 May;63(5):647-656. doi: 10.1038/s10038-018-0429-8. Epub 2018 Mar 2.

PMID:
29500469
5.

Disruption of Gen1 Causes Congenital Anomalies of the Kidney and Urinary Tract in Mice.

Wang H, Zhang C, Wang X, Lian Y, Guo B, Han M, Zhang X, Zhu X, Xu S, Guo Z, Bi Y, Shen Q, Wang X, Liu J, Zhuang Y, Ni T, Xu H, Wu X.

Int J Biol Sci. 2018 Jan 1;14(1):10-20. doi: 10.7150/ijbs.22768. eCollection 2018.

6.

Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases.

Nagano C, Nozu K, Morisada N, Yazawa M, Ichikawa D, Numasawa K, Kourakata H, Matsumura C, Tazoe S, Tanaka R, Yamamura T, Minamikawa S, Horinouchi T, Nakanishi K, Fujimura J, Sakakibara N, Nozu Y, Ye MJ, Kaito H, Iijima K.

Clin Exp Nephrol. 2018 Aug;22(4):881-888. doi: 10.1007/s10157-018-1534-x. Epub 2018 Jan 25.

PMID:
29372472
7.

Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio‑otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance?

Kause F, Reutter H, Marsch F, Thiele H, Altmüller J, Ludwig M, Zhang R.

Mol Med Rep. 2018 Feb;17(2):3200-3205. doi: 10.3892/mmr.2017.8196. Epub 2017 Dec 6.

PMID:
29257230
8.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG.

Am J Hum Genet. 2017 Nov 2;101(5):789-802. doi: 10.1016/j.ajhg.2017.09.018. Erratum in: Am J Hum Genet. 2017 Dec 7;101(6):1034.

9.

In Silico Analyses Reveal the Relationship Between SIX1/EYA1 Mutations and Conotruncal Heart Defects.

Li B, Xu L, Hong N, Chen S, Xu R.

Pediatr Cardiol. 2018 Jan;39(1):176-182. doi: 10.1007/s00246-017-1744-0. Epub 2017 Oct 17.

PMID:
29043394
10.

A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.

Brophy PD, Rasmussen M, Parida M, Bonde G, Darbro BW, Hong X, Clarke JC, Peterson KA, Denegre J, Schneider M, Sussman CR, Sunde L, Lildballe DL, Hertz JM, Cornell RA, Murray SA, Manak JR.

Genetics. 2017 Sep;207(1):215-228. doi: 10.1534/genetics.117.1125. Epub 2017 Jul 24.

11.

A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency.

Paganini I, Sestini R, Capone GL, Putignano AL, Contini E, Giotti I, Gensini F, Marozza A, Barilaro A, Porfirio B, Papi L.

Clin Genet. 2017 Dec;92(6):664-668. doi: 10.1111/cge.13085. Epub 2017 Oct 24.

PMID:
28657137
12.

Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.

Wu H, Xu Q, Xie J, Ma J, Qiao P, Zhang W, Yu H, Wang W, Qian Y, Zhang Q, Guo Y, Tang Y, Chen XN, Wang Z, Chen N.

Am J Nephrol. 2017;46(1):55-63. doi: 10.1159/000477590. Epub 2017 Jun 16.

PMID:
28618409
13.

Novel EYA1 variants causing Branchio-oto-renal syndrome.

Klingbeil KD, Greenland CM, Arslan S, Llamos Paneque A, Gurkan H, Demir Ulusal S, Maroofian R, Carrera-Gonzalez A, Montufar-Armendariz S, Paredes R, Elcioglu N, Menendez I, Behnam M, Foster J 2nd, Guo S, Escarfuller S, Cengiz FB, Duman D, Bademci G, Tekin M.

Int J Pediatr Otorhinolaryngol. 2017 Jul;98:59-63. doi: 10.1016/j.ijporl.2017.04.037. Epub 2017 Apr 26.

14.

Methylation of the phosphatase-transcription activator EYA1 by protein arginine methyltransferase 1: mechanistic, functional, and structural studies.

Li X, Eberhardt A, Hansen JN, Bohmann D, Li H, Schor NF.

FASEB J. 2017 Jun;31(6):2327-2339. doi: 10.1096/fj.201601050RR. Epub 2017 Feb 17.

PMID:
28213359
15.

Pa2G4 is a novel Six1 co-factor that is required for neural crest and otic development.

Neilson KM, Abbruzzesse G, Kenyon K, Bartolo V, Krohn P, Alfandari D, Moody SA.

Dev Biol. 2017 Jan 15;421(2):171-182. doi: 10.1016/j.ydbio.2016.11.021. Epub 2016 Dec 9.

16.

EYA1's Conformation Specificity in Dephosphorylating Phosphothreonine in Myc and Its Activity on Myc Stabilization in Breast Cancer.

Li J, Rodriguez Y, Cheng C, Zeng L, Wong EYM, Xu CY, Zhou MM, Xu PX.

Mol Cell Biol. 2016 Dec 19;37(1). pii: e00499-16. doi: 10.1128/MCB.00499-16. Print 2017 Jan 1.

17.

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, Myers A, Borovik L, Craigen WJ, Hanchard NA, Rosenfeld JA, Lewis RA, Gonzales ET, Gibbs RA, Belmont JW, Roth DR, Eng C, Braun MC, Lupski JR, Lamb DJ.

Genet Med. 2017 Apr;19(4):412-420. doi: 10.1038/gim.2016.131. Epub 2016 Sep 22.

18.

Review of the recurrent 8q13.2q13.3 branchio-oto-renal related microdeletion, and report of an additional case with associated distal arthrogryposis.

Au PB, Chernos JE, Thomas MA.

Am J Med Genet A. 2016 Nov;170(11):2984-2987. doi: 10.1002/ajmg.a.37695. Epub 2016 Aug 19. Review.

PMID:
27542115
19.

MicroRNA-101 inhibits cell proliferation and induces apoptosis by targeting EYA1 in breast cancer.

Guan H, Dai Z, Ma Y, Wang Z, Liu X, Wang X.

Int J Mol Med. 2016 Jun;37(6):1643-51. doi: 10.3892/ijmm.2016.2557. Epub 2016 Apr 11.

PMID:
27082308
20.

Aberrant expression of homeobox gene SIX1 in Hodgkin lymphoma.

Nagel S, Meyer C, Kaufmann M, Drexler HG, MacLeod RA.

Oncotarget. 2015 Nov 24;6(37):40112-26. doi: 10.18632/oncotarget.5556.

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