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
Occlusal Outcomes in Non-Robin Sequence Patients with Isolated Cleft Palate
CONCLUSIONS: The skeletal occlusal class outcomes were similar to those found in a previous study in the literature. The occlusal prognosis appears to be better than in patients with Robin Sequence or with an associated cleft lip. No preoperative measurement was found to be associated with the occlusal outcome.PMID:38389267 | DOI:10.1177/10556656241236078 (Source: The Cleft Palate-Craniofacial Journal)
Source: The Cleft Palate-Craniofacial Journal - February 23, 2024 Category: ENT & OMF Authors: Catherine Beaumont Audrey Bellerive Anne-Sophie Julien Jacques E Leclerc Source Type: research
