References
- Morgan A, Koboldt DC, Barrie ES, et al. Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss. Hum. Mutat. 2019;40(12):2286–2295.
- Vozzi D, Morgan A, Vuckovic D, et al. Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of italian and qatari patients. Gene. 2014;542(2):209–216.
- Dixon MJ, Gazzard J, Chaudhry SS, et al. Mutation of the Na-K-Cl Co-transporter gene Slc12a2 results in deafness in mice. Hum. Mol. Genet. 1999;8(8):1579–1584.
- Abbas L, Whitfield TT. Nkcc1 (Slc12a2) is required for the regulation of endolymph volume in the otic vesicle and swim bladder volume in the zebrafish larva. Development. 2009;136(16):2837–2848.
- Merner ND, Mercado A, Khanna AR, et al. Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia. J Psychiat Res. 2016;77:22–26.
- Delpire E, Wolfe L, Flores B, et al. A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1. Cold Spring Harb Mol Case Stud. 2016;2(6):a001289.
- Macnamara EF, Koehler AE, D’Souza P, et al. Kilquist syndrome: a novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2. Hum. Mutat. 2019;40(5):532–538.
- Chew TA, Orlando BJ, Zhang J, et al. Structure and mechanism of the cation–chloride cotransporter NKCC1. Nature. 2019;572(7770):488–492.
- Monette MY, Forbush B. Regulatory activation is accompanied by movement in the C terminus of the Na-K-Cl cotransporter (NKCC1). J Biol Chem. 2012;287(3):2210–2220.
- Rinehart J, Maksimova YD, Tanis JE, et al. Sites of regulated phosphorylation that control K-Cl cotransporter activity. Cell. 2009;138(3):525–536.