LMNA-geenitutkimus familiaalista dilatoivaa kardiomyopatiaa sairastavilla potilailla [PDF]
, 2015 Dilatoiva kardiomyopatia (DCM) on sydänlihaksen sairaus, jolle on tyypillistä sydämen vasemman kammion laajeneminen ja systolinen vajaatoiminta. Taudin perinnöllistä muotoa kutsutaan familiaaliseksi dilatoivaksi kardiomyopatiaksi (FDC).
Becker, Samu
core
LmnaDhe/+ fibroblasts have increased DNA content subsequent to pervasive aneuploidy.
, 2013 (A and B) Flow cytometry analysis of propidium iodide labeling of Lmna+/+(A) and LmnaDhe/+ (B) dermal fibroblasts indicates that mutant cells have a significantly higher proportion of cells with 4C and 8C and lower fraction of 2C cells, as compared to ...
Michelle Curtain (354067) +3 more
core +1 more source
Mapping malignant T‐cell states and immune circuits in Sézary syndrome by single‐cell analysis
Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 9, Page 1535-1549, September 2026.Peripheral blood single‐cell RNA‐seq from leukaemic CTCL defined three malignant T‐cell programmes: MTC CM, MTC Reg and MTC E/EM, each with distinct features and candidate vulnerabilities. For example, inferred immune circuits highlighted actionable IL‐10/JAK–TYK2–STAT3 signalling, KIR–MHC I inhibitory interactions and myeloid/B‐cell inflammatory and ...
Beth A. Childs +6 more
wiley +1 more source
Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy [PDF]
, 2014 Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation.
Lozada, Anthony +11 more
core +1 more source
Assessing the therapeutic potential of PDE‐5 inhibitors in adults: Insights from a multi‐omics study
Physiological Reports, Volume 14, Issue 18, September 2026.Abstract Phosphodiesterase‐5 inhibitors have beneficial pleiotropic effects and hold promise as adjuvant treatments for cancer, dementia, and other disorders. Sixteen men and women aged 50–60 were administered daily sildenafil/tadalafil for 1 month. We characterized molecular signatures of sildenafil/tadalafil treatment via analyses and multi‐omics ...
Kristen A. McGovern +14 more
wiley +1 more source
The lamina is intact in LMNA E161K heart and fibroblasts.
, 2013 (A) Electron microscopy illustrates the electron dense lamina in both the LMNA E161K and LMNA normal hearts, and shows no appreciable difference. N = nucleus, red arrows indicate nuclear membrane. Scale bar = 2 µm. (B) The LINC complex proteins localize
Fida Abuisneineh (358917) +12 more
core +1 more source
Bringing human early embryo development to clinical interpretation: HESTA as an evolving reference
Clinical and Translational Medicine, Volume 16, Issue 9, September 2026.
Yuejiao Li +6 more
wiley +1 more source
Behavioral and molecular exploration of the AR-CMT2A mouse model Lmna (R298C/R298C).
, 2012 International audienceIn 2002, we identified LMNA as the first gene responsible for an autosomal recessive axonal form of Charcot-Marie-Tooth disease, AR-CMT2A. All patients were found to be homozygous for the same mutation in the LMNA gene, p.Arg298Cys.
Roubertoux, Pierre +14 more
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Clinical characterization of patients carrying pathogenic variants of the LMNA gene
openBackground Le cardiolaminopatie, manifestazioni eterogenee e complesse delle mutazioni del gene LMNA, si caratterizzano per la frequente comparsa di cardiomiopatia dilatativa (dilated cardiomyopathy: DCM), disturbi di conduzione atrioventricolare e ...
PALESCANDOLO, ALBA
core
Increased distance between clusters 13A and 13B in LMNA E161K mutant nuclei.
, 2013 (A) The distance between Clusters 13A and 13B was measured in LMNA normal and LMNA E161K mutant nuclei (n = 56 and n = 94 respectively), 13A = red, 13B = green, anti-lamin B1 = blue.
Fida Abuisneineh (358917) +12 more
core +1 more source