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Items: 1 to 20 of 31

1.

Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations.

Gu X, Guo L, Ji H, Sun S, Chai R, Wang L, Li H.

Clin Genet. 2015 Jun;87(6):588-93. doi: 10.1111/cge.12431. Epub 2014 Aug 7.

PMID:
24853665
2.

Chromosome microarray analysis: a case report of infertile brothers with CATSPER gene deletion.

Jaiswal D, Singh V, Dwivedi US, Trivedi S, Singh K.

Gene. 2014 Jun 1;542(2):263-5. doi: 10.1016/j.gene.2014.03.055. Epub 2014 Mar 29.

PMID:
24690399
3.

Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3.

Hoppman N, Aypar U, Brodersen P, Brown N, Wilson J, Babovic-Vuksanovic D.

Mol Cytogenet. 2013 May 6;6(1):19. doi: 10.1186/1755-8166-6-19.

4.

Disruption of the principal, progesterone-activated sperm Ca2+ channel in a CatSper2-deficient infertile patient.

Smith JF, Syritsyna O, Fellous M, Serres C, Mannowetz N, Kirichok Y, Lishko PV.

Proc Natl Acad Sci U S A. 2013 Apr 23;110(17):6823-8. doi: 10.1073/pnas.1216588110. Epub 2013 Mar 25.

5.

Genetic male infertility and mutation of CATSPER ion channels.

Hildebrand MS, Avenarius MR, Fellous M, Zhang Y, Meyer NC, Auer J, Serres C, Kahrizi K, Najmabadi H, Beckmann JS, Smith RJ.

Eur J Hum Genet. 2010 Nov;18(11):1178-84. doi: 10.1038/ejhg.2010.108. Epub 2010 Jul 21. Review.

6.

The BSA-induced Ca2+ influx during sperm capacitation is CATSPER channel-dependent.

Xia J, Ren D.

Reprod Biol Endocrinol. 2009 Oct 27;7:119. doi: 10.1186/1477-7827-7-119.

7.

Pharmacological targeting of native CatSper channels reveals a required role in maintenance of sperm hyperactivation.

Carlson AE, Burnett LA, del Camino D, Quill TA, Hille B, Chong JA, Moran MM, Babcock DF.

PLoS One. 2009 Aug 31;4(8):e6844. doi: 10.1371/journal.pone.0006844.

8.

Ca2+-stores in sperm: their identities and functions.

Costello S, Michelangeli F, Nash K, Lefievre L, Morris J, Machado-Oliveira G, Barratt C, Kirkman-Brown J, Publicover S.

Reproduction. 2009 Sep;138(3):425-37. doi: 10.1530/REP-09-0134. Epub 2009 Jun 19. Review.

9.

A novel, single, transmembrane protein CATSPERG is associated with CATSPER1 channel protein.

Wang H, Liu J, Cho KH, Ren D.

Biol Reprod. 2009 Sep;81(3):539-44. doi: 10.1095/biolreprod.109.077107. Epub 2009 Jun 10.

10.

Human male infertility caused by mutations in the CATSPER1 channel protein.

Avenarius MR, Hildebrand MS, Zhang Y, Meyer NC, Smith LL, Kahrizi K, Najmabadi H, Smith RJ.

Am J Hum Genet. 2009 Apr;84(4):505-10. doi: 10.1016/j.ajhg.2009.03.004. Epub 2009 Apr 2.

11.

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents.

Knijnenburg J, Oberstein SA, Frei K, Lucas T, Gijsbers AC, Ruivenkamp CA, Tanke HJ, Szuhai K.

J Med Genet. 2009 Jun;46(6):412-7. doi: 10.1136/jmg.2008.063685. Epub 2009 Feb 25.

PMID:
19246478
12.

Egg coat proteins activate calcium entry into mouse sperm via CATSPER channels.

Xia J, Ren D.

Biol Reprod. 2009 Jun;80(6):1092-8. doi: 10.1095/biolreprod.108.074039. Epub 2009 Feb 11.

13.

CatSper-null mutant spermatozoa are unable to ascend beyond the oviductal reservoir.

Ho K, Wolff CA, Suarez SS.

Reprod Fertil Dev. 2009;21(2):345-50.

PMID:
19210926
14.

The biology of infertility: research advances and clinical challenges.

Matzuk MM, Lamb DJ.

Nat Med. 2008 Nov;14(11):1197-213. doi: 10.1038/nm.f.1895. Epub 2008 Nov 6. Review.

15.
16.

Stereocilin-deficient mice reveal the origin of cochlear waveform distortions.

Verpy E, Weil D, Leibovici M, Goodyear RJ, Hamard G, Houdon C, Lefèvre GM, Hardelin JP, Richardson GP, Avan P, Petit C.

Nature. 2008 Nov 13;456(7219):255-8. doi: 10.1038/nature07380. Epub 2008 Oct 8.

17.

CatSperbeta, a novel transmembrane protein in the CatSper channel complex.

Liu J, Xia J, Cho KH, Clapham DE, Ren D.

J Biol Chem. 2007 Jun 29;282(26):18945-52. Epub 2007 May 3.

18.

All four CatSper ion channel proteins are required for male fertility and sperm cell hyperactivated motility.

Qi H, Moran MM, Navarro B, Chong JA, Krapivinsky G, Krapivinsky L, Kirichok Y, Ramsey IS, Quill TA, Clapham DE.

Proc Natl Acad Sci U S A. 2007 Jan 23;104(4):1219-23. Epub 2007 Jan 16.

19.

Voltage-dependent calcium channels in mammalian spermatozoa revisited.

Benoff S, Chu CC, Marmar JL, Sokol RZ, Goodwin LO, Hurley IR.

Front Biosci. 2007 Jan 1;12:1420-49. Review.

PMID:
17127392
20.

Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.

Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Lohr NJ, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ.

J Med Genet. 2007 Apr;44(4):233-40. Epub 2006 Nov 10. Erratum in: J Med Genet. 2007 Aug;44(8):544. Lohr, Naomi J [added].

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