Results 61 to 70 of about 1,743 (194)

Establishment of an iPSC line (JSPHi001-A) from a patient with familial dilated cardiomyopathy and atrial fibrillation caused by LMNA missense mutation (c.1003C > T)

Stem Cell Research, 2021
Peripheral blood mononuclear cells (PBMCs) were harvested and reprogramed to induced pluripotent stem cells (iPSCs) from a 46-year-old male patient with familial dilated cardiomyopathy and atrial fibrillation via a non-integrating system.
Yike Zhang, Yue Zhu, Yongping Lin, Hailei Liu, Hongwu Chen, Weizhu Ju, Chang Cui, Minglong Chen   +7 more
doaj   +1 more source

mutation in Lamin A links nuclear proteostasis imbalance to laminopathy‐associated premature aging

, 2022
Deleterious, mostly de novo, mutations in the lamin A (LMNA) gene cause spatio‐functional nuclear abnormalities that result in several laminopathy‐associated progeroid conditions.
Kumar, Jeevan, Debasish Kumar Ghosh, Katta M. Girisha, Yesodharan, Dhanya, Dhanya Yesodharan, Jeevan Kumar, Shruti Pande, Periyasamy Radhakrishnan, Akash Ranjan, Sheela Nampoothiri, Chilakala Gangi Reddy, Ghosh, Debasish Kumar, Pande, Shruti   +12 more
core   +1 more source

Mouse models of laminopathies

Aging Cell, 2012
AbstractThe A‐ and B‐type lamins are nuclear intermediate filament proteins in eukaryotic cells with a broad range of functions, including the organization of nuclear architecture and interaction with proteins in many cellular functions. Over 180 disease‐causing mutations, termed ‘laminopathies,’ have been mapped throughout LMNA, the gene for A‐type ...
Haoyue, Zhang, Julia E, Kieckhaefer, Kan, Cao   +2 more
openaire   +2 more sources

Pervasive nuclear envelope ruptures precede ECM signaling and disease onset without activating cGAS-STING in Lamin-cardiomyopathy mice

Cell Reports
Summary: Nuclear envelope (NE) ruptures are emerging observations in Lamin-related dilated cardiomyopathy, an adult-onset disease caused by loss-of-function mutations in Lamin A/C, a nuclear lamina component. Here, we test a prevailing hypothesis that NE
Atsuki En, Hanumakumar Bogireddi, Briana Thomas, Alexis V. Stutzman, Sachie Ikegami, Brigitte LaForest, Omar Almakki, Peter Pytel, Ivan P. Moskowitz, Kohta Ikegami   +9 more
doaj   +1 more source

Consequences of Lmna Exon 4 Mutations in Myoblast Function

Cells, 2020
Laminopathies are causally associated with mutations on the Lamin A/C gene (LMNA). To date, more than 400 mutations in LMNA have been reported in patients.
Déborah Gómez-Domínguez, Carolina Epifano, Fernando de Miguel, Albert García Castaño, Borja Vilaplana-Martí, Alberto Martín, Sandra Amarilla-Quintana, Anne T Bertrand, Gisèle Bonne, Javier Ramón-Azcón, Miguel A Rodríguez-Milla, Ignacio Pérez de Castro   +11 more
doaj   +1 more source

Dialing Down SUN1 for Laminopathies [PDF]

Cell, 2012
Laminopathies, caused by mutations in A-type nuclear lamins, encompass a range of diseases, including forms of progeria and muscular dystrophy. In this issue, Chen et al. provide evidence that elevated expression of the nuclear inner membrane protein SUN1 drives pathology in multiple laminopathies.
Suh, Yousin, Kennedy, Brian K.
openaire   +2 more sources

Soft substrates normalize nuclear morphology and prevent nuclear rupture in fibroblasts from a laminopathy patient with compound heterozygous LMNA mutations [PDF]

, 2013
Laminopathies, mainly caused by mutations in the LMNA gene, are a group of inherited diseases with a highly variable penetrance; i.e., the disease spectrum in persons with identical LMNA mutations range from symptom-free conditions to severe ...
Verstraeten, V.L.R.M., Baaijens, F.P.T., Tamiello, C., Bouten, C.V.C.; id_orcid, Wijngaard, van den, A., Broers, J.L.V., Kamps, M.A.   +6 more
core   +1 more source

Chd4 and ThPOK cooperate to preserve structural and electrophysiological integrity of the adult heart through Sprr1a repression

The FEBS Journal, EarlyView.
Chd4/NuRD and ThPOK cooperate to maintain transcriptional repression and nuclear organization in adult cardiomyocytes. Chd4 loss reduces miR‐150‐5p, relieving repression of Sprr1a, while ThPOK loss further enhances Sprr1a activation, possibly through altered chromatin–lamina interactions.
Fadoua El Abdellaoui‐Soussi, Apolonia Novillo, Rocío Brea, Marta Ysbert, Lorena Cussó, Gonzalo Pizarro‐Sánchez, Manuel Desco, Iván Hernández, Ángel Luis Armesilla, Ignacio Pérez de Castro, Alicia R. Folgueras, Juan Miguel Redondo, Pablo Gómez‐del Arco   +12 more
wiley   +1 more source

Progeroid Syndrome and Mutation in LMNA Gene: Report of Two Cases from Iran [PDF]

Journal of Kerman University of Medical Sciences, 2005
Two Iranian cases with very rare progeroid syndrome are reported. The first is a 24-year-old girl who has been healthy till her 13th birthday. From that time she has been suffering from a progressive generalized and multi-systemic illness.
Y Shafeghati, N Levy, G.M Martin
doaj  

Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including ‘Healthy Lipid’ Emerin p.D149H in the ExAC Cohort

Frontiers in Cell and Developmental Biology, 2019
Emerin (EMD) and barrier to autointegration factor 1 (BANF1) each bind A-type lamins (LMNA) as fundamental components of nuclear lamina structure. Mutations in LMNA, EMD and BANF1 are genetically linked to many tissue-specific disorders including Emery ...
Tejas Dharmaraj, Youchen Guan, Julie Liu, Catherine Badens, Benedicte Gaborit, Katherine L. Wilson   +5 more
doaj   +1 more source