Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease-Reference-Cited by-同舟云学术

Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease

Published:2021-01-27 Issue:7 Volume:66 Page:689-695
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Bilal Shamsi Monis,Saleh Mohamed,Almuntashri Makki,Alharby Essa,Samman Manar,Peake Roy W. A.,Al-Fadhli Fatima M.,Alasmari Ali,Faqeih Eissa A.,Almontashiri Naif A. M.^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-021-00904-2.pdf

Reference29 articles.

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3. Wangemann P. Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential. J Physiol. 2006;576:11–21.

4. Dzhala VI, Talos DM, Sdrulla DA, Brumback AC, Mathews GC, Benke TA. et al. NKCC1 transporter facilitates seizures in the developing brain. Nat Med. 2005;11:1205–13.

5. Sung KW, Kirby M, McDonald MP, Lovinger DM, Delpire E. Abnormal GABAA receptor-mediated currents in dorsal root ganglion neurons isolated from Na-K-2Cl cotransporter null mice. J Neurosci. 2000;20:7531–8.

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1. NKCC1 in human diseases: is the SLC12A2 gene haploinsufficient?;American Journal of Physiology-Cell Physiology;2023-08-01

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3. Loss of NKCC1 function increases epithelial tight junction permeability by upregulating claudin-2 expression;American Journal of Physiology-Cell Physiology;2022-10-01

4. NKCC1 Deficiency in Forming Hippocampal Circuits Triggers Neurodevelopmental Disorder: Role of BDNF-TrkB Signalling;Brain Sciences;2022-04-15

5. Dominant and recessive SLC12A2 ‐syndrome;American Journal of Medical Genetics Part A;2021-11-19