Normal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel
Am J Physiol Cell Physiol. 2024 Feb 26. doi: 10.1152/ajpcell.00597.2023. Online ahead of print.ABSTRACTK+ channel Kir7.1 expressed at the apical membrane of the retinal pigment epithelium (RPE) plays an essential role in retinal function. An isoleucine-to-threonine mutation at position 120 of the protein is responsible for blindness-causing vitreo-retinal dystrophy. We have studied the molecular mechanism of action of Kir7.1-I120T in vitro by heterologous expression and in vivo by in CRISPR-generated knockin mice. Full-size Kir7.1-I120T reaches the plasma membrane but lacks any activity. Analysis of Kir7.1 and the I120T mu...
Source: Am J Physiol Cell Ph... - February 26, 2024 Category: Cytology Authors: Erwin Vera Isabel Cornejo Juan Carlos Henao Felipe Tribi ños Johanna Burgos Francisco V Sepulveda L Pablo Cid Source Type: research
Normal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel
Am J Physiol Cell Physiol. 2024 Feb 26. doi: 10.1152/ajpcell.00597.2023. Online ahead of print.ABSTRACTK+ channel Kir7.1 expressed at the apical membrane of the retinal pigment epithelium (RPE) plays an essential role in retinal function. An isoleucine-to-threonine mutation at position 120 of the protein is responsible for blindness-causing vitreo-retinal dystrophy. We have studied the molecular mechanism of action of Kir7.1-I120T in vitro by heterologous expression and in vivo by in CRISPR-generated knockin mice. Full-size Kir7.1-I120T reaches the plasma membrane but lacks any activity. Analysis of Kir7.1 and the I120T mu...
Source: American Journal of Physiology. Cell Physiology - February 26, 2024 Category: Cytology Authors: Erwin Vera Isabel Cornejo Juan Carlos Henao Felipe Tribi ños Johanna Burgos Francisco V Sepulveda L Pablo Cid Source Type: research
Normal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel
Am J Physiol Cell Physiol. 2024 Feb 26. doi: 10.1152/ajpcell.00597.2023. Online ahead of print.ABSTRACTK+ channel Kir7.1 expressed at the apical membrane of the retinal pigment epithelium (RPE) plays an essential role in retinal function. An isoleucine-to-threonine mutation at position 120 of the protein is responsible for blindness-causing vitreo-retinal dystrophy. We have studied the molecular mechanism of action of Kir7.1-I120T in vitro by heterologous expression and in vivo by in CRISPR-generated knockin mice. Full-size Kir7.1-I120T reaches the plasma membrane but lacks any activity. Analysis of Kir7.1 and the I120T mu...
Source: American Journal of Physiology. Cell Physiology - February 26, 2024 Category: Cytology Authors: Erwin Vera Isabel Cornejo Juan Carlos Henao Felipe Tribi ños Johanna Burgos Francisco V Sepulveda L Pablo Cid Source Type: research
Normal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel
Am J Physiol Cell Physiol. 2024 Feb 26. doi: 10.1152/ajpcell.00597.2023. Online ahead of print.ABSTRACTK+ channel Kir7.1 expressed at the apical membrane of the retinal pigment epithelium (RPE) plays an essential role in retinal function. An isoleucine-to-threonine mutation at position 120 of the protein is responsible for blindness-causing vitreo-retinal dystrophy. We have studied the molecular mechanism of action of Kir7.1-I120T in vitro by heterologous expression and in vivo by in CRISPR-generated knockin mice. Full-size Kir7.1-I120T reaches the plasma membrane but lacks any activity. Analysis of Kir7.1 and the I120T mu...
Source: Am J Physiol Cell Ph... - February 26, 2024 Category: Cytology Authors: Erwin Vera Isabel Cornejo Juan Carlos Henao Felipe Tribi ños Johanna Burgos Francisco V Sepulveda L Pablo Cid Source Type: research
Normal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel
Am J Physiol Cell Physiol. 2024 Feb 26. doi: 10.1152/ajpcell.00597.2023. Online ahead of print.ABSTRACTK+ channel Kir7.1 expressed at the apical membrane of the retinal pigment epithelium (RPE) plays an essential role in retinal function. An isoleucine-to-threonine mutation at position 120 of the protein is responsible for blindness-causing vitreo-retinal dystrophy. We have studied the molecular mechanism of action of Kir7.1-I120T in vitro by heterologous expression and in vivo by in CRISPR-generated knockin mice. Full-size Kir7.1-I120T reaches the plasma membrane but lacks any activity. Analysis of Kir7.1 and the I120T mu...
Source: Am J Physiol Cell Ph... - February 26, 2024 Category: Cytology Authors: Erwin Vera Isabel Cornejo Juan Carlos Henao Felipe Tribi ños Johanna Burgos Francisco V Sepulveda L Pablo Cid Source Type: research
Normal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel
Am J Physiol Cell Physiol. 2024 Feb 26. doi: 10.1152/ajpcell.00597.2023. Online ahead of print.ABSTRACTK+ channel Kir7.1 expressed at the apical membrane of the retinal pigment epithelium (RPE) plays an essential role in retinal function. An isoleucine-to-threonine mutation at position 120 of the protein is responsible for blindness-causing vitreo-retinal dystrophy. We have studied the molecular mechanism of action of Kir7.1-I120T in vitro by heterologous expression and in vivo by in CRISPR-generated knockin mice. Full-size Kir7.1-I120T reaches the plasma membrane but lacks any activity. Analysis of Kir7.1 and the I120T mu...
Source: American Journal of Physiology. Cell Physiology - February 26, 2024 Category: Cytology Authors: Erwin Vera Isabel Cornejo Juan Carlos Henao Felipe Tribi ños Johanna Burgos Francisco V Sepulveda L Pablo Cid Source Type: research
Normal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel
Am J Physiol Cell Physiol. 2024 Feb 26. doi: 10.1152/ajpcell.00597.2023. Online ahead of print.ABSTRACTK+ channel Kir7.1 expressed at the apical membrane of the retinal pigment epithelium (RPE) plays an essential role in retinal function. An isoleucine-to-threonine mutation at position 120 of the protein is responsible for blindness-causing vitreo-retinal dystrophy. We have studied the molecular mechanism of action of Kir7.1-I120T in vitro by heterologous expression and in vivo by in CRISPR-generated knockin mice. Full-size Kir7.1-I120T reaches the plasma membrane but lacks any activity. Analysis of Kir7.1 and the I120T mu...
Source: American Journal of Physiology. Cell Physiology - February 26, 2024 Category: Cytology Authors: Erwin Vera Isabel Cornejo Juan Carlos Henao Felipe Tribi ños Johanna Burgos Francisco V Sepulveda L Pablo Cid Source Type: research
Normal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel
Am J Physiol Cell Physiol. 2024 Feb 26. doi: 10.1152/ajpcell.00597.2023. Online ahead of print.ABSTRACTK+ channel Kir7.1 expressed at the apical membrane of the retinal pigment epithelium (RPE) plays an essential role in retinal function. An isoleucine-to-threonine mutation at position 120 of the protein is responsible for blindness-causing vitreo-retinal dystrophy. We have studied the molecular mechanism of action of Kir7.1-I120T in vitro by heterologous expression and in vivo by in CRISPR-generated knockin mice. Full-size Kir7.1-I120T reaches the plasma membrane but lacks any activity. Analysis of Kir7.1 and the I120T mu...
Source: Am J Physiol Cell Ph... - February 26, 2024 Category: Cytology Authors: Erwin Vera Isabel Cornejo Juan Carlos Henao Felipe Tribi ños Johanna Burgos Francisco V Sepulveda L Pablo Cid Source Type: research
Normal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel
Am J Physiol Cell Physiol. 2024 Feb 26. doi: 10.1152/ajpcell.00597.2023. Online ahead of print.ABSTRACTK+ channel Kir7.1 expressed at the apical membrane of the retinal pigment epithelium (RPE) plays an essential role in retinal function. An isoleucine-to-threonine mutation at position 120 of the protein is responsible for blindness-causing vitreo-retinal dystrophy. We have studied the molecular mechanism of action of Kir7.1-I120T in vitro by heterologous expression and in vivo by in CRISPR-generated knockin mice. Full-size Kir7.1-I120T reaches the plasma membrane but lacks any activity. Analysis of Kir7.1 and the I120T mu...
Source: American Journal of Physiology. Cell Physiology - February 26, 2024 Category: Cytology Authors: Erwin Vera Isabel Cornejo Juan Carlos Henao Felipe Tribi ños Johanna Burgos Francisco V Sepulveda L Pablo Cid Source Type: research
Normal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel
Am J Physiol Cell Physiol. 2024 Feb 26. doi: 10.1152/ajpcell.00597.2023. Online ahead of print.ABSTRACTK+ channel Kir7.1 expressed at the apical membrane of the retinal pigment epithelium (RPE) plays an essential role in retinal function. An isoleucine-to-threonine mutation at position 120 of the protein is responsible for blindness-causing vitreo-retinal dystrophy. We have studied the molecular mechanism of action of Kir7.1-I120T in vitro by heterologous expression and in vivo by in CRISPR-generated knockin mice. Full-size Kir7.1-I120T reaches the plasma membrane but lacks any activity. Analysis of Kir7.1 and the I120T mu...
Source: Am J Physiol Cell Ph... - February 26, 2024 Category: Cytology Authors: Erwin Vera Isabel Cornejo Juan Carlos Henao Felipe Tribi ños Johanna Burgos Francisco V Sepulveda L Pablo Cid Source Type: research
Normal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel
Am J Physiol Cell Physiol. 2024 Feb 26. doi: 10.1152/ajpcell.00597.2023. Online ahead of print.ABSTRACTK+ channel Kir7.1 expressed at the apical membrane of the retinal pigment epithelium (RPE) plays an essential role in retinal function. An isoleucine-to-threonine mutation at position 120 of the protein is responsible for blindness-causing vitreo-retinal dystrophy. We have studied the molecular mechanism of action of Kir7.1-I120T in vitro by heterologous expression and in vivo by in CRISPR-generated knockin mice. Full-size Kir7.1-I120T reaches the plasma membrane but lacks any activity. Analysis of Kir7.1 and the I120T mu...
Source: American Journal of Physiology. Cell Physiology - February 26, 2024 Category: Cytology Authors: Erwin Vera Isabel Cornejo Juan Carlos Henao Felipe Tribi ños Johanna Burgos Francisco V Sepulveda L Pablo Cid Source Type: research
Normal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel
Am J Physiol Cell Physiol. 2024 Feb 26. doi: 10.1152/ajpcell.00597.2023. Online ahead of print.ABSTRACTK+ channel Kir7.1 expressed at the apical membrane of the retinal pigment epithelium (RPE) plays an essential role in retinal function. An isoleucine-to-threonine mutation at position 120 of the protein is responsible for blindness-causing vitreo-retinal dystrophy. We have studied the molecular mechanism of action of Kir7.1-I120T in vitro by heterologous expression and in vivo by in CRISPR-generated knockin mice. Full-size Kir7.1-I120T reaches the plasma membrane but lacks any activity. Analysis of Kir7.1 and the I120T mu...
Source: Am J Physiol Cell Ph... - February 26, 2024 Category: Cytology Authors: Erwin Vera Isabel Cornejo Juan Carlos Henao Felipe Tribi ños Johanna Burgos Francisco V Sepulveda L Pablo Cid Source Type: research
Normal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel
Am J Physiol Cell Physiol. 2024 Feb 26. doi: 10.1152/ajpcell.00597.2023. Online ahead of print.ABSTRACTK+ channel Kir7.1 expressed at the apical membrane of the retinal pigment epithelium (RPE) plays an essential role in retinal function. An isoleucine-to-threonine mutation at position 120 of the protein is responsible for blindness-causing vitreo-retinal dystrophy. We have studied the molecular mechanism of action of Kir7.1-I120T in vitro by heterologous expression and in vivo by in CRISPR-generated knockin mice. Full-size Kir7.1-I120T reaches the plasma membrane but lacks any activity. Analysis of Kir7.1 and the I120T mu...
Source: American Journal of Physiology. Cell Physiology - February 26, 2024 Category: Cytology Authors: Erwin Vera Isabel Cornejo Juan Carlos Henao Felipe Tribi ños Johanna Burgos Francisco V Sepulveda L Pablo Cid Source Type: research
Normal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel
Am J Physiol Cell Physiol. 2024 Feb 26. doi: 10.1152/ajpcell.00597.2023. Online ahead of print.ABSTRACTK+ channel Kir7.1 expressed at the apical membrane of the retinal pigment epithelium (RPE) plays an essential role in retinal function. An isoleucine-to-threonine mutation at position 120 of the protein is responsible for blindness-causing vitreo-retinal dystrophy. We have studied the molecular mechanism of action of Kir7.1-I120T in vitro by heterologous expression and in vivo by in CRISPR-generated knockin mice. Full-size Kir7.1-I120T reaches the plasma membrane but lacks any activity. Analysis of Kir7.1 and the I120T mu...
Source: Am J Physiol Cell Ph... - February 26, 2024 Category: Cytology Authors: Erwin Vera Isabel Cornejo Juan Carlos Henao Felipe Tribi ños Johanna Burgos Francisco V Sepulveda L Pablo Cid Source Type: research
Normal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel
Am J Physiol Cell Physiol. 2024 Feb 26. doi: 10.1152/ajpcell.00597.2023. Online ahead of print.ABSTRACTK+ channel Kir7.1 expressed at the apical membrane of the retinal pigment epithelium (RPE) plays an essential role in retinal function. An isoleucine-to-threonine mutation at position 120 of the protein is responsible for blindness-causing vitreo-retinal dystrophy. We have studied the molecular mechanism of action of Kir7.1-I120T in vitro by heterologous expression and in vivo by in CRISPR-generated knockin mice. Full-size Kir7.1-I120T reaches the plasma membrane but lacks any activity. Analysis of Kir7.1 and the I120T mu...
Source: Am J Physiol Cell Ph... - February 26, 2024 Category: Cytology Authors: Erwin Vera Isabel Cornejo Juan Carlos Henao Felipe Tribi ños Johanna Burgos Francisco V Sepulveda L Pablo Cid Source Type: research
