Results 91 to 100 of about 3,734 (156)

Image_4_Modeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic LMNA Mutations.JPEG

, 2018
Laminopathies are a clinically heterogeneous group of disorders caused by mutations in LMNA. The main proteins encoded by LMNA are Lamin A and C, which together with Lamin B1 and B2, form the nuclear lamina: a mesh-like structure located underneath the ...
Sara M. Maffioletti (5869217), Peter S. Zammit (355746), Francesco Saverio Tedesco (101545), Tanel Ozdemir (5869214), Heather B. Steele-Stallard (5869205), Shilpita Sarcar (5869211), Luca Pinton (5869208)   +6 more
core   +1 more source

Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts

Cells
Emery–Dreifuss muscular dystrophy (EDMD) is caused by mutations in EMD, LMNA, SYNE1, SYNE2, and other related genes. The disease is characterized by joint contractures, muscle weakening and wasting, and heart conduction defects associated with dilated ...
Eleonora Cattin, Elisa Schena, Elisabetta Mattioli, Stefania Marcuzzo, Silvia Bonanno, Paola Cavalcante, Federico Corradi, Daniela Benati, Giorgia Farinazzo, Marco Cattaneo, Veronica De Sanctis, Roberto Bertorelli, Lorenzo Maggi, Melania Giannotta, Antonella Pini, Gaetano Vattemi, Denise Cassandrini, Marco Cavallo, Cristina Manferdini, Gina Lisignoli, Beatrice Fontana, Ilaria Pace, Claudio Bruno, Roberta Roncarati, Chiara Fiorillo, Manuela Ferracin, Eric C. Schirmer, Alessandra Recchia, Giovanna Lattanzi   +28 more
doaj   +1 more source

Image_2_Modeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic LMNA Mutations.JPEG

, 2018
Laminopathies are a clinically heterogeneous group of disorders caused by mutations in LMNA. The main proteins encoded by LMNA are Lamin A and C, which together with Lamin B1 and B2, form the nuclear lamina: a mesh-like structure located underneath the ...
Sara M. Maffioletti (5869217), Peter S. Zammit (355746), Francesco Saverio Tedesco (101545), Tanel Ozdemir (5869214), Heather B. Steele-Stallard (5869205), Shilpita Sarcar (5869211), Luca Pinton (5869208)   +6 more
core   +1 more source

LMNA‐related muscular dystrophy presenting as an inflammatory myopathy

Annals of the Child Neurology Society
Introduction There are overlapping features between inflammatory myopathies and muscular dystrophies, particularly laminopathies. Key features that characterize laminopathies include axial and proximal weakness, contractures, and cardiac abnormalities ...
Alexandra Santana Almansa, Stephen M. Chrzanowski, Farrah Rajabi, Megan Day‐Lewis, Pui Y. Lee, Hart G. W. Lidov, Laura L. Lehman, Leslie H. Hayes   +7 more
doaj   +1 more source

Selection of specific and efficient siRNAs in new cellular model for Hutchinson-Gilford progeria syndrome therapy

Molecular Therapy: Nucleic Acids
Hutchinson-Gilford progeria syndrome is a fatal genetic disorder caused by a point mutation in the gene encoding the nuclear envelope protein lamin A/C.
Volha Dzianisava, Katarzyna Piekarowicz, Magdalena Machowska, Ryszard Rzepecki   +3 more
doaj   +1 more source

Video_1_Modeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic LMNA Mutations.avi

, 2018
Laminopathies are a clinically heterogeneous group of disorders caused by mutations in LMNA. The main proteins encoded by LMNA are Lamin A and C, which together with Lamin B1 and B2, form the nuclear lamina: a mesh-like structure located underneath the ...
Sara M. Maffioletti (5869217), Peter S. Zammit (355746), Francesco Saverio Tedesco (101545), Tanel Ozdemir (5869214), Heather B. Steele-Stallard (5869205), Shilpita Sarcar (5869211), Luca Pinton (5869208)   +6 more
core   +1 more source

Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions

International audienceLamins are essential for maintaining the mechanical stability of the nucleus and organizing chromatin. B-type lamins are expressed early in embryogenesis, particularly in the central nervous system, where they are crucial for ...
Kaspi, Elise, Roll, Patrice, Frankel, Diane, Bonello-Palot, Nathalie, de Sandre-Giovannoli, Annachiara, Bourgeois, Patrice, Desgrouas, Camille, Badens, Catherine   +7 more
core   +1 more source

Video_5_Modeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic LMNA Mutations.avi

, 2018
Laminopathies are a clinically heterogeneous group of disorders caused by mutations in LMNA. The main proteins encoded by LMNA are Lamin A and C, which together with Lamin B1 and B2, form the nuclear lamina: a mesh-like structure located underneath the ...
Sara M. Maffioletti (5869217), Peter S. Zammit (355746), Francesco Saverio Tedesco (101545), Tanel Ozdemir (5869214), Heather B. Steele-Stallard (5869205), Shilpita Sarcar (5869211), Luca Pinton (5869208)   +6 more
core   +1 more source

Video_8_Modeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic LMNA Mutations.avi

, 2018
Laminopathies are a clinically heterogeneous group of disorders caused by mutations in LMNA. The main proteins encoded by LMNA are Lamin A and C, which together with Lamin B1 and B2, form the nuclear lamina: a mesh-like structure located underneath the ...
Sara M. Maffioletti (5869217), Peter S. Zammit (355746), Francesco Saverio Tedesco (101545), Tanel Ozdemir (5869214), Heather B. Steele-Stallard (5869205), Shilpita Sarcar (5869211), Luca Pinton (5869208)   +6 more
core   +1 more source

Adipose tissue dynamics in Laminopathies

Lamin A, the major splicing product of the LMNA gene, is the main constituent of the nuclear lamina, a filamentous network underneath the nuclear membrane.
Elisa Schena
core