Dupuytren’s and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene [PDF]
Cells, 2017 Dupuytren’s disease (palmar fibromatosis) involves nodules in fascia of the hand that leads to flexion contractures. Ledderhose disease (plantar fibromatosis) is similar with nodules of the foot.
Michael V. Zaragoza +4 more
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Revisiting the truncated lamin A produced by a commonly used strain of Lmna knockout mice
Nucleus, 2023 The Lmna knockout mouse (Lmna–/–) created by Sullivan and coworkers in 1999 has been widely used to examine lamin A/C function. The knockout allele contains a deletion of Lmna intron 7–exon 11 sequences and was reported to be a null allele.
Joonyoung R. Kim +4 more
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Modeling Treatment Response for Lamin A/C Related Dilated Cardiomyopathy in Human Induced Pluripotent Stem Cells [PDF]
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2017 BackgroundPrecision medicine is an emerging approach to disease treatment and prevention that takes into account individual variability in the environment, lifestyle, and genetic makeup of patients.
Yee‐Ki Lee +7 more
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LMNA mutations in atypical Werner's syndrome [PDF]
Lancet, The, 2003 Abhimanyu Garg, George M Martin
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Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse [PDF]
American Journal of Human Genetics, 2002 Annachiara De Sandre-Giovannoli +1 more
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Cellular micro-environments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors [PDF]
Journal of Cell Science, 2014 Anne T Bertrand +2 more
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Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy [PDF]
European Journal of Human Genetics, 2013 Roberta Roncarati +2 more
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Cardiomyocyte-specific expression of lamin a improves cardiac function in Lmna-/- mice. [PDF]
PLoS ONE, 2012 Lmna(-/-) mice display multiple tissue defects and die by 6-8 weeks of age reportedly from dilated cardiomyopathy with associated conduction defects. We sought to determine whether restoration of lamin A in cardiomyocytes improves cardiac function and ...
Richard L Frock +13 more
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Lipodistrofia Parcial Familiar tipo 2: a propósito de un caso
Galicia Clínica, 2021 UETeM-Molecular Pathology Group, IDIS-CIMUS (Centro de Investigación en Medicina Molecular y Enfermedades Crónicas), Universidadede Santiago de Compostela, Galiza.
David Araújo Vilar +1 more
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Cardiomyocyte Proliferative Capacity Is Restricted in Mice With Lmna Mutation
Frontiers in Cardiovascular Medicine, 2021 LMNA is one of the leading causative genes of genetically inherited dilated cardiomyopathy (DCM). Unlike most DCM-causative genes, which encode sarcomeric or sarcomere-related proteins, LMNA encodes nuclear envelope proteins, lamin A and C, and does not ...
Kenji Onoue +12 more
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