| 1 | CLCN4, MRX49 |
| The molecular and phenotypic spectrum of CLCN4-related epilepsy | |
| He H, Guzman RE, Cao D, Sierra-Marquez J, Yin F, Fahlke C, Peng J, Stauber T. | |
| Epilepsia. Jun;62(6):1401-1415. doi: 10.1111/epi.16906. Epub 2021 May 5. 2021 | |
| 2 | CLCN4, MRX49 |
| De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females | |
| Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Raynaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, Najmabadi H, Ropers HH, Delgado MR, Sirsi D, Golla S, Sommer A, Pietryga MP, Chung WK, Wynn J, Rohena L, Bernardo E, Hamlin D, Faux BM, Grange DK, Manwaring L, Tolmie J, Joss S; DDD Study, Cobben JM, Duijkers FAM, Goehringer JM, Challman TD, Hennig F, Fischer U, Grimme A, Suckow V, Musante L, Nicholl J, Shaw M, Lodh SP, Niu Z, Rosenfeld JA, Stankiewicz P, Jentsch TJ, Gecz J, Field M, Kalscheuer VM. | |
| Mol Psychiatry. Feb;23(2):222-230. doi: 10.1038/mp.2016.135. Epub 2016 Aug 23. 2018 | |
| 3 | CLCN3, CLCN4 |
| Preferential association with ClC-3 permits sorting of ClC-4 into endosomal compartments. | |
| Guzman RE, Bungert-Plümke S, Franzen A, Fahlke C. | |
| J Biol Chem. Nov 17;292(46):19055-19065. doi: 10.1074/jbc.M117.801951. Epub 2017 Sep 26. 2017 | |
| 4 | CLCN4 |
| Anion- and proton-dependent gating of ClC-4 anion/proton transporter under uncoupling conditions 2011 PMID: | |
| Orhan G, Fahlke C, Alekov AK. | |
| Biophys J. Mar 2;100(5):1233-41. doi: 10.1016/j.bpj.2011.01.045. 2011 | |
| 5 | CLCN4, TFRC |
| An essential role for ClC-4 in transferrin receptor function revealed in studies of fibroblasts derived from Clcn4-null mice | |
| Mohammad-Panah R, Wellhauser L, Steinberg BE, Wang Y, Huan LJ, Liu XD, Bear CE. | |
| J Cell Sci. Apr 15;122(Pt 8):1229-37. doi: 10.1242/jcs.037317. 2009 | |
| 6 | CLCN4, CLCN5 |
| Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5. | |
| Picollo A, Pusch M. | |
| Nature 436(7049):420-3. 2005 | |
| 7 | CLCN4, CLCN5, CLCN7 |
| Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins. | |
| Scheel O, Zdebik AA, Lourdel S, Jentsch TJ. | |
| Nature 436(7049):424-7. 2005 | |
| 8 | CLCN4, CLCN5 |
| The chloride channel ClC-4 contributes to endosomal acidification and trafficking. | |
| Mohammad-Panah R, Harrison R, Dhani S, Ackerley C, Huan LJ, Wang Y, Bear CE. | |
| J Biol Chem 278(31):29267-77. Epub 2003 May 13. 2003 | |
| 9 | CLCN4 |
| Expression of CLCN voltage-gated chloride channel genes in human blood vessels. | |
| Lamb FS, Clayton GH, Liu BX, Smith RL, Barna TJ, Schutte BC. | |
| J Mol Cell Cardiol 31(3):657-66. 1999 | |
| 10 | CLCN4, MLS, OA1 |
| Intragenic TaqI restriction fragment length polymorphism (RFLP) in CICN4, between the loci for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects syndrome (MLS). | |
| Schnur RE, et al. | |
| Hum Genet 95 : 594-595. 1995 | |
| 11 | CLCN4 |
| A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. | |
| Van Slegtenhorst MA, et al. | |
| Hum Mol Genet 3 : 547-552. 1994 | |