Results 1 to 10 of about 1,405 (122)

Novel KCNJ16 variants identified in a Chinese patient with hypokalemic metabolic acidosis [PDF]

Molecular Genetics & Genomic Medicine, 2023
Background Biallelic pathogenic variants in the KCNJ16 gene result in hypokalemic tubulopathy and deafness (HKTD) (MIM #619406), which is a rare autosomal recessive disease characterized by hypokalemic tubulopathy with renal salt wasting, disturbed acid ...
Jianxiong Chen, Youqing Fu, Yan Sun, Xinlong Zhou, Qingming Wang, Cong Li, Haiming Yuan   +6 more
doaj   +3 more sources

KCNJ16-depleted kidney organoids recapitulate tubulopathy and lipid recovery upon statins treatment [PDF]

Stem Cell Research & Therapy
Background The KCNJ16 gene has been associated with a novel kidney tubulopathy phenotype, viz. disturbed acid–base homeostasis, hypokalemia and altered renal salt transport.
E. Sendino Garví, G. J. J. van Slobbe, E. A. Zaal, J. H. F. de Baaij, J. G. Hoenderop, R. Masereeuw, M. J. Janssen, A. M. van Genderen   +7 more
doaj   +3 more sources

Characterization of a novel variant in KCNJ16, encoding Kir5.1 channel [PDF]

Physiological Reports
The essential role of the inwardly rectifying potassium channel Kir5.1 (KCNJ16) in controlling electrolyte homeostasis and blood pressure has been demonstrated in human and animal studies.
Biyang Xu, Vladislav Levchenko, Ruslan Bohovyk, Ameneh Ahrari, Aron M. Geurts, Valerie Sency, Baozhong Xin, Heng Wang, Alexander Staruschenko   +8 more
doaj   +3 more sources

Deletion of Kcnj16 altered transcriptomic and metabolomic profiles of Dahl salt-sensitive rats [PDF]

iScience
Summary: The inwardly rectifying K+ channel Kir5.1 (Kcnj16) is essential in renal salt handling and blood pressure control. However, the underlying mechanisms are not fully understood.
Biyang Xu, Lashodya V. Dissanayake, Vladislav Levchenko, Adrian Zietara, Olha Kravtsova, Alexander Staruschenko   +5 more
doaj   +3 more sources

Diverse functions of the inward-rectifying potassium channel Kir5.1 and its relationship with human diseases [PDF]

Frontiers in Physiology, 2023
The inward-rectifying potassium channel subunit Kir5.1, encoded by Kcnj16, can form functional heteromeric channels (Kir4.1/5.1 and Kir4.2/5.1) with Kir4.1 (encoded by Kcnj10) or Kir4.2 (encoded by Kcnj15).
Chaojie Zhang, Chaojie Zhang, Chaojie Zhang, Chaojie Zhang, Jia Guo, Jia Guo, Jia Guo, Jia Guo   +7 more
doaj   +3 more sources

Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus. [PDF]

HGG Adv
The aim of this work was to identify the underlying genetic cause in a four-generation family segregating an unusual phenotype comprising a severe form of skeletal Class II malocclusion with gingival hyperplasia.
Maroofian R, Pagnamenta AT, Navabazam A, Schwessinger R, Roberts HE, Lopopolo M, Dehghani M, Vahidi Mehrjardi MY, Haerian A, Soltanianzadeh M, Noori Kooshki MH, Knight SJL, Miller KA, McGowan SJ, Chatron N, Timberlake AT, Melo US, Mundlos S, Buck D, Twigg SRF, Taylor JC, Wilkie AOM, Calpena E.   +22 more
europepmc   +4 more sources

Genome-wide association analysis reveals insights into the genetic architecture of mesenteric torsion in pigs [PDF]

Scientific Reports
Mesenteric torsion (MT) is a condition that affects several animal species and can lead to the animals’ death. However, little is known about its etiology.
Suelen Fernandes Padilha, Rafaela Martins, Ludmila Mudri Hul, Luis Orlando Duitama Carreño, Marcelo Silva de Freitas, Jader Silva Lopes, Adriana Mércia Guaratini Ibelli, Jane de Oliveira Peixoto, Marcos Antônio Zanella Morés, Maurício Egídio Cantão, Rodrigo de Almeida Teixeira, Laila Talarico Dias, Mônica Corrêa Ledur   +12 more
doaj   +3 more sources

Repeated seizure-induced brainstem neuroinflammation contributes to post-ictal ventilatory control dysfunction [PDF]

Frontiers in Physiology
Patients with epilepsy face heightened risk of post-ictal cardiorespiratory suppression and sudden unexpected death in epilepsy (SUDEP). Studies have shown that neuroinflammation, mediated by the activation of microglia and astrocytes, may be a cause or ...
Wasif A. Osmani, Alexander Gallo, Madeline Tabor, Melissa Eilbes, Denise R. Cook-Snyder, Matthew R. Hodges, Matthew R. Hodges   +6 more
doaj   +3 more sources

Deletion of Kcnj16 in Mice Does Not Alter Auditory Function

Frontiers in Cell and Developmental Biology, 2021
Endolymphatic potential (EP) is the main driving force behind the sensory transduction of hearing, and K+ is the main charge carrier. Kir5.1 is a K+ transporter that plays a significant role in maintaining EP homeostasis, but the expression pattern and ...
Jun Lv, Xiaolong Fu, Yige Li, Guodong Hong, Peipei Li, Jing Lin, Youfang Xun, Youfang Xun, Lucheng Fang, Weibin Weng, Rongyu Yue, Geng-Lin Li, Bing Guan, He Li, Yideng Huang, Yideng Huang, Renjie Chai, Renjie Chai, Renjie Chai, Renjie Chai   +19 more
doaj   +2 more sources

Targeting the inward rectifier potassium channel 5.1 in thyroid cancer: artificial intelligence-facilitated molecular docking for drug discovery [PDF]

BMC Endocrine Disorders, 2023
Background Recurrent and metastatic thyroid cancer is more invasive and can transform to dedifferentiated thyroid cancer, thus leading to a severe decline in the 10-year survival. The thyroid-stimulating hormone receptor (TSHR) plays an important role in
Xue Yang, Yonglin Wu, Shaojie Xu, Hanning Li, Chengcheng Peng, Xiaoqing Cui, Deenraj Kush Dhoomun, Ge Wang, Tao Xu, Menglu Dong, Xingrui Li, Yaying Du   +11 more
doaj   +2 more sources