Sf3b4 regulates chromatin remodeler splicing and Hox expression
Differentiation. 2023 May 4;131:59-73. doi: 10.1016/j.diff.2023.04.004. Online ahead of print.ABSTRACTSF3B proteins form a heptameric complex in the U2 small nuclear ribonucleoprotein, essential for pre-mRNA splicing. Heterozygous pathogenic variants in human SF3B4 are associated with head, face, limb, and vertebrae defects. Using the CRISPR/Cas9 system, we generated mice with constitutive heterozygous deletion of Sf3b4 and showed that mutant embryos have abnormal vertebral development. Vertebrae abnormalities were accompanied by changes in levels and expression pattern of Hox genes in the somites. RNA sequencing analysis ...
Source: Differentiation - May 11, 2023 Category: Research Authors: Shruti Kumar Sabrina Shameen Alam Eric Bareke Marie-Claude Beauchamp Yanchen Dong Wesley Chan Jacek Majewski Loydie A Jerome-Majewska Source Type: research
Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant
Differentiation. 2023 May 5;131:74-81. doi: 10.1016/j.diff.2023.04.003. Online ahead of print.ABSTRACTVariants in the MMACHC gene cause combined methylmalonic acidemia and homocystinuria cblC type, the most common inborn error of intracellular cobalamin (vitamin B12) metabolism. cblC is associated with neurodevelopmental, hematological, ocular, and biochemical abnormalities. In a subset of patients, mild craniofacial dysmorphia has also been described. Mouse models of Mmachc deletion are embryonic lethal but cause severe craniofacial phenotypes such as facial clefts. MMACHC encodes an enzyme required for cobalamin processi...
Source: Differentiation - May 11, 2023 Category: Research Authors: David Paz Briana E Pinales Barbara S Castellanos Isaiah Perez Claudia B Gil Lourdes Jimenez Madrigal Nayeli G Reyes-Nava Victoria L Castro Jennifer L Sloan Anita M Quintana Source Type: research
Sf3b4 regulates chromatin remodeler splicing and Hox expression
Differentiation. 2023 May 4;131:59-73. doi: 10.1016/j.diff.2023.04.004. Online ahead of print.ABSTRACTSF3B proteins form a heptameric complex in the U2 small nuclear ribonucleoprotein, essential for pre-mRNA splicing. Heterozygous pathogenic variants in human SF3B4 are associated with head, face, limb, and vertebrae defects. Using the CRISPR/Cas9 system, we generated mice with constitutive heterozygous deletion of Sf3b4 and showed that mutant embryos have abnormal vertebral development. Vertebrae abnormalities were accompanied by changes in levels and expression pattern of Hox genes in the somites. RNA sequencing analysis ...
Source: Differentiation - May 11, 2023 Category: Research Authors: Shruti Kumar Sabrina Shameen Alam Eric Bareke Marie-Claude Beauchamp Yanchen Dong Wesley Chan Jacek Majewski Loydie A Jerome-Majewska Source Type: research
Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant
Differentiation. 2023 May 5;131:74-81. doi: 10.1016/j.diff.2023.04.003. Online ahead of print.ABSTRACTVariants in the MMACHC gene cause combined methylmalonic acidemia and homocystinuria cblC type, the most common inborn error of intracellular cobalamin (vitamin B12) metabolism. cblC is associated with neurodevelopmental, hematological, ocular, and biochemical abnormalities. In a subset of patients, mild craniofacial dysmorphia has also been described. Mouse models of Mmachc deletion are embryonic lethal but cause severe craniofacial phenotypes such as facial clefts. MMACHC encodes an enzyme required for cobalamin processi...
Source: Differentiation - May 11, 2023 Category: Research Authors: David Paz Briana E Pinales Barbara S Castellanos Isaiah Perez Claudia B Gil Lourdes Jimenez Madrigal Nayeli G Reyes-Nava Victoria L Castro Jennifer L Sloan Anita M Quintana Source Type: research
Sf3b4 regulates chromatin remodeler splicing and Hox expression
Differentiation. 2023 May 4;131:59-73. doi: 10.1016/j.diff.2023.04.004. Online ahead of print.ABSTRACTSF3B proteins form a heptameric complex in the U2 small nuclear ribonucleoprotein, essential for pre-mRNA splicing. Heterozygous pathogenic variants in human SF3B4 are associated with head, face, limb, and vertebrae defects. Using the CRISPR/Cas9 system, we generated mice with constitutive heterozygous deletion of Sf3b4 and showed that mutant embryos have abnormal vertebral development. Vertebrae abnormalities were accompanied by changes in levels and expression pattern of Hox genes in the somites. RNA sequencing analysis ...
Source: Differentiation - May 11, 2023 Category: Research Authors: Shruti Kumar Sabrina Shameen Alam Eric Bareke Marie-Claude Beauchamp Yanchen Dong Wesley Chan Jacek Majewski Loydie A Jerome-Majewska Source Type: research
Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant
Differentiation. 2023 May 5;131:74-81. doi: 10.1016/j.diff.2023.04.003. Online ahead of print.ABSTRACTVariants in the MMACHC gene cause combined methylmalonic acidemia and homocystinuria cblC type, the most common inborn error of intracellular cobalamin (vitamin B12) metabolism. cblC is associated with neurodevelopmental, hematological, ocular, and biochemical abnormalities. In a subset of patients, mild craniofacial dysmorphia has also been described. Mouse models of Mmachc deletion are embryonic lethal but cause severe craniofacial phenotypes such as facial clefts. MMACHC encodes an enzyme required for cobalamin processi...
Source: Differentiation - May 11, 2023 Category: Research Authors: David Paz Briana E Pinales Barbara S Castellanos Isaiah Perez Claudia B Gil Lourdes Jimenez Madrigal Nayeli G Reyes-Nava Victoria L Castro Jennifer L Sloan Anita M Quintana Source Type: research
Ordered deployment of distinct ciliary beating machines in growing axonemes of vertebrate multiciliated cells
Differentiation. 2023 Apr 13;131:49-58. doi: 10.1016/j.diff.2023.03.001. Online ahead of print.ABSTRACTThe beating of motile cilia requires the coordinated action of diverse machineries that include not only the axonemal dynein arms, but also the central apparatus, the radial spokes, and the microtubule inner proteins. These machines exhibit complex radial and proximodistal patterns in mature axonemes, but little is known about the interplay between them during motile ciliogenesis. Here, we describe and quantify the relative rates of axonemal deployment for these diverse cilia beating machineries during the final stages of...
Source: Differentiation - April 30, 2023 Category: Research Authors: Chanjae Lee Yun Ma Fan Tu John B Wallingford Source Type: research
Ordered deployment of distinct ciliary beating machines in growing axonemes of vertebrate multiciliated cells
Differentiation. 2023 Apr 13;131:49-58. doi: 10.1016/j.diff.2023.03.001. Online ahead of print.ABSTRACTThe beating of motile cilia requires the coordinated action of diverse machineries that include not only the axonemal dynein arms, but also the central apparatus, the radial spokes, and the microtubule inner proteins. These machines exhibit complex radial and proximodistal patterns in mature axonemes, but little is known about the interplay between them during motile ciliogenesis. Here, we describe and quantify the relative rates of axonemal deployment for these diverse cilia beating machineries during the final stages of...
Source: Differentiation - April 30, 2023 Category: Research Authors: Chanjae Lee Yun Ma Fan Tu John B Wallingford Source Type: research
Ordered deployment of distinct ciliary beating machines in growing axonemes of vertebrate multiciliated cells
Differentiation. 2023 Apr 13;131:49-58. doi: 10.1016/j.diff.2023.03.001. Online ahead of print.ABSTRACTThe beating of motile cilia requires the coordinated action of diverse machineries that include not only the axonemal dynein arms, but also the central apparatus, the radial spokes, and the microtubule inner proteins. These machines exhibit complex radial and proximodistal patterns in mature axonemes, but little is known about the interplay between them during motile ciliogenesis. Here, we describe and quantify the relative rates of axonemal deployment for these diverse cilia beating machineries during the final stages of...
Source: Differentiation - April 30, 2023 Category: Research Authors: Chanjae Lee Yun Ma Fan Tu John B Wallingford Source Type: research
Ordered deployment of distinct ciliary beating machines in growing axonemes of vertebrate multiciliated cells
Differentiation. 2023 Apr 13;131:49-58. doi: 10.1016/j.diff.2023.03.001. Online ahead of print.ABSTRACTThe beating of motile cilia requires the coordinated action of diverse machineries that include not only the axonemal dynein arms, but also the central apparatus, the radial spokes, and the microtubule inner proteins. These machines exhibit complex radial and proximodistal patterns in mature axonemes, but little is known about the interplay between them during motile ciliogenesis. Here, we describe and quantify the relative rates of axonemal deployment for these diverse cilia beating machineries during the final stages of...
Source: Differentiation - April 30, 2023 Category: Research Authors: Chanjae Lee Yun Ma Fan Tu John B Wallingford Source Type: research
Ordered deployment of distinct ciliary beating machines in growing axonemes of vertebrate multiciliated cells
Differentiation. 2023 Apr 13;131:49-58. doi: 10.1016/j.diff.2023.03.001. Online ahead of print.ABSTRACTThe beating of motile cilia requires the coordinated action of diverse machineries that include not only the axonemal dynein arms, but also the central apparatus, the radial spokes, and the microtubule inner proteins. These machines exhibit complex radial and proximodistal patterns in mature axonemes, but little is known about the interplay between them during motile ciliogenesis. Here, we describe and quantify the relative rates of axonemal deployment for these diverse cilia beating machineries during the final stages of...
Source: Differentiation - April 30, 2023 Category: Research Authors: Chanjae Lee Yun Ma Fan Tu John B Wallingford Source Type: research
Ordered deployment of distinct ciliary beating machines in growing axonemes of vertebrate multiciliated cells
Differentiation. 2023 Apr 13;131:49-58. doi: 10.1016/j.diff.2023.03.001. Online ahead of print.ABSTRACTThe beating of motile cilia requires the coordinated action of diverse machineries that include not only the axonemal dynein arms, but also the central apparatus, the radial spokes, and the microtubule inner proteins. These machines exhibit complex radial and proximodistal patterns in mature axonemes, but little is known about the interplay between them during motile ciliogenesis. Here, we describe and quantify the relative rates of axonemal deployment for these diverse cilia beating machineries during the final stages of...
Source: Differentiation - April 30, 2023 Category: Research Authors: Chanjae Lee Yun Ma Fan Tu John B Wallingford Source Type: research
Ordered deployment of distinct ciliary beating machines in growing axonemes of vertebrate multiciliated cells
Differentiation. 2023 Apr 13;131:49-58. doi: 10.1016/j.diff.2023.03.001. Online ahead of print.ABSTRACTThe beating of motile cilia requires the coordinated action of diverse machineries that include not only the axonemal dynein arms, but also the central apparatus, the radial spokes, and the microtubule inner proteins. These machines exhibit complex radial and proximodistal patterns in mature axonemes, but little is known about the interplay between them during motile ciliogenesis. Here, we describe and quantify the relative rates of axonemal deployment for these diverse cilia beating machineries during the final stages of...
Source: Differentiation - April 30, 2023 Category: Research Authors: Chanjae Lee Yun Ma Fan Tu John B Wallingford Source Type: research
Ordered deployment of distinct ciliary beating machines in growing axonemes of vertebrate multiciliated cells
Differentiation. 2023 Apr 13;131:49-58. doi: 10.1016/j.diff.2023.03.001. Online ahead of print.ABSTRACTThe beating of motile cilia requires the coordinated action of diverse machineries that include not only the axonemal dynein arms, but also the central apparatus, the radial spokes, and the microtubule inner proteins. These machines exhibit complex radial and proximodistal patterns in mature axonemes, but little is known about the interplay between them during motile ciliogenesis. Here, we describe and quantify the relative rates of axonemal deployment for these diverse cilia beating machineries during the final stages of...
Source: Differentiation - April 30, 2023 Category: Research Authors: Chanjae Lee Yun Ma Fan Tu John B Wallingford Source Type: research
Spheroid formation and luteinization of granulosa cells of felids in a long-term 3D culture
This study confirms that GCs from felids can be luteinized in a 3D spheroid system which can be a basis for further studies on luteal cell function of felids. Additionally, we could show that the domestic cat can serve as a model species for establishing cell culture methods which can be transferred to other felids.PMID:37079952 | DOI:10.1016/j.diff.2023.03.002 (Source: Differentiation)
Source: Differentiation - April 20, 2023 Category: Research Authors: Micha ł M Hryciuk Filip Schr öter Luise Hennicke Beate C Braun Source Type: research
