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
Facial Analysis of Patients with Unilateral or Bilateral Cleft Lip and Palate Using 3D Stereophotogrammetry
CONCLUSIONS: G2 had a greater length and width of nose and nasal root, nasal tip angle, philtrum width, and lower face width, midfacial depth, and midface third than G1. These findings also revealed the presence of sexual dimorphism.PMID:38403944 | DOI:10.1177/10556656241234603 (Source: The Cleft Palate-Craniofacial Journal)
Source: The Cleft Palate-Craniofacial Journal - February 26, 2024 Category: ENT & OMF Authors: Vanessa Ota Nogueira Maria Carolina Neves Karin Neppelenbroek Tha ís Marchini Oliveira Chiarella Sforza Simone Soares 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
Longitudinal Speech Outcome at 5 and 10 Years in UCLP: Influence of Speech Therapy and Secondary Velopharyngeal Surgery
CONCLUSIONS: It is important to strive for speech at 'peer level' before age 5. Criteria for speech therapy intervention and for methods used needs to be evidence-based.PMID:38408738 | DOI:10.1177/10556656231225575 (Source: The Cleft Palate-Craniofacial Journal)
Source: The Cleft Palate-Craniofacial Journal - February 26, 2024 Category: ENT & OMF Authors: C Persson J Davies C Havstam H S øgaard M Bowden M Boers J B Nielsen S Alaluusua I Lundeborg Hammarstr öm B K Emborg A Sand A Lohmander Source Type: research
Facial Analysis of Patients with Unilateral or Bilateral Cleft Lip and Palate Using 3D Stereophotogrammetry
CONCLUSIONS: G2 had a greater length and width of nose and nasal root, nasal tip angle, philtrum width, and lower face width, midfacial depth, and midface third than G1. These findings also revealed the presence of sexual dimorphism.PMID:38403944 | DOI:10.1177/10556656241234603 (Source: The Cleft Palate-Craniofacial Journal)
Source: The Cleft Palate-Craniofacial Journal - February 26, 2024 Category: ENT & OMF Authors: Vanessa Ota Nogueira Maria Carolina Neves Karin Neppelenbroek Tha ís Marchini Oliveira Chiarella Sforza Simone Soares 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: 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
