Results 81 to 90 of about 1,238 (171)

Lamin A/C, laminopathies and premature ageing.

Histology and histopathology, 2008
Lamin A/C belongs to type V intermediate filaments and constitutes the nuclear lamina and nuclear matrix, where a variety of nuclear activities occur. Lamin A/C protein is firstly synthesized as a precursor and is further proteolytically processed by the zinc metallo-proteinase Ste24 (Zmpste24).
Zhou, Z, Liu, B
openaire   +4 more sources

Emerging perspectives on laminopathies

Cell Health and Cytoskeleton, 2016
Laminopathies are a group of inherited disorders caused by mutations in the lamin A/C gene, and can affect diverse organs or tissues, or can be systemic, causing premature aging. In the present review, we report on the composition and structure of the nuclear lamina and the role of lamins in nuclear mechanics and their involvement in human diseases ...
Lattanzi, Giovanna, Benedetti, Sara, D’Apice, Maria Rosaria, Maggi, Lorenzo, Carboni, Nicola, Scarano, Emanuela, POLITANO, Luisa   +6 more
openaire   +3 more sources

Restrictive dermopathy: A baby with taut skin, facial dysmorphism, joint contractures, and pulmonary hypoplasia

JAAD Case Reports, 2022
Wei Di Ng, MBBS, MMED (Paed), Ai Ling Koh, MB, ChB, MRCPCH, MMED (Paed), Mark Jean Aan Koh, MBBS, DIP, MRCPCH, Dip Pract Derm (UK), DipDermatopathology (ICDP-UEMS, Austria), Juin Yee Kong, MD (Jefferson, FAAP, Diplomate of American Board of Pediatrics) (Peds) (Neonatology)   +3 more
doaj   +1 more source

Metabolic Dysregulation in Laminopathies: Implications for Heart Failure and Cardiac Health. [PDF]

Curr Heart Fail Rep
Torfs T, Veltrop RJA, Lezzoche G, Heymans SRB, Verdonschot JAJ, Nabben M.   +5 more
europepmc   +1 more source

Autosomal-Recessive LMNA Dilated Cardiomyopathy. [PDF]

JACC Case Rep
Sterner RM, Coon LM, Black JL, Moyer AM, Maleszewski JJ, Baudhuin LM.   +5 more
europepmc   +1 more source

From clinical observation to shared knowledge: the European Heart Journal Case Reports Cases of the year 2025. [PDF]

Eur Heart J Case Rep
Duncker D, Hillmann HAK, Sommer P.
europepmc   +1 more source

The Lamin Proteins in Nuclear Structure, Functions, and Laminopathies. [PDF]

Cells
Zhao G, Chen Z, Yang C, Liu M, Wang W, Zhang C.   +5 more
europepmc   +1 more source

Laminopathies

, 2013
Tomas McKenna, Jean-Ha Baek, Maria Eriksso   +2 more
openaire   +2 more sources

Telomere shortening in laminopathic dilated cardiomyopathy. [PDF]

NPJ Regen Med
Chang ACY, Pardon G, Chang ACH, Wang C, Termglinchan V, Kirillova A, Nicin L, Birnbaum F, Laquerrière A, Bonne G, Wu J, Blau HM.   +11 more
europepmc   +1 more source

Reduced ZMPSTE24 expression leads to prelamin accumulation and development of steatosis in MASLD patients. [PDF]

Sci Rep
Schinderle JD, Wu A, Bochkis IM.
europepmc   +1 more source