Results 101 to 110 of about 1,703 (200)

Pathological Features in the LmnaDhe/+ Mutant Mouse Provide a Novel Model of Human Otitis Media and Laminopathies [PDF]

, 2012
Genetic predisposition is recognized as an important pathogenetic factor in otitis media (OM) and associated diseases. Mutant Lmna mice heterozygous for the disheveled hair and ears allele (LmnaDhe/+) exhibit early-onset, profound hearing deficits and ...
Zheng, Qing Yin, Han, Fengchan, Xu, Min, Jin Zhang, Cindy Benedict-Alderfer, Kim, Suejin, Zhang, Jin, Elisha Fredman, Min Xu, Yu, Heping, Heping Yu, Suejin Kim, Yan Zhang, Tian, Cong, Fengchan Han, Qing Yin Zheng, Zhang, Yan, Cong Tian, Fredman, Elisha, Benedict-Alderfer, Cindy   +19 more
core   +1 more source

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

An inside-out approach to nuclear mechanics: Genetic engineering of an in vitro laminopathy model

, 2016
Laminopathies are a group of genetic diseases affecting the nuclear lamina of metazoan cells with mutations in the genes LMNA, LMNB1, and LMNB2, which code for intermediate filament proteins called lamins.
Thompson, Matthew
core   +1 more source

Progerin sequestration of PCNA promotes replication fork collapse and mislocalization of XPA in laminopathy‐related progeroid syndromes

, 2017
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder that is caused by a point mutation in the LMNA gene, resulting in production of a truncated farnesylated-prelamin A protein (progerin).We previously reported that XPAmislocalized to ...
Maya Breitman, Liu, Ji, Brian M. Cartwright, Phillip R. Musich, Rusinol, Antonio, Ji Liu, Benjamin A. Hilton, Youjie Wang, Liu, Yiyong, Hui Tang, Tang, Hui, Musich, Phillip R., Rowdy Jones, Antonio Rusinol, Wang, Youjie, Zou, Yue, Hilton, Benjamin A., Yue Zou, Jones, Rowdy, Yiyong Liu, Cartwright, Brian M., Breitman, Maya   +21 more
core   +1 more source

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

Hutchinson-Gilford Progeria Syndrome [PDF]

, 2022
The Hutchinson-Gilford syndrome or progeria is a laminopathy generated by mutations that affect LMNA gene. This produces an abnormal protein named progerine which alters the formation of the cellular membrane inducing premature aging of all cells.
Gutiérrez Castañeda, Luz Dary, Lancheros, Natalia, Angarita, Lizeth, Bernal, Betty, Benavides, Vanessa, Bautista, Luisa, Echeverri, Catalina, Pardo, Juan, Guarín, Laura, Villamil, Andrés, Pulido, Daniela, Bautista, Mónica, Camacho Cruz, Jhon   +12 more
core  

Generation of induced pluripotent stem cells from a newly identified type of laminopathy - 'proof of principle'.

, 2011
Laminopathies constitute a family of disease caused by mutations in the lamin proteins which includes lamin A/C and lamin B1/2. Recently, a new type of laminopathy characterised by inherited heart disease and limb abnormalities was identified.
Chua, Bernice Hong Min.
core  

Induced pluripotent stem cell platforms for disease modelling of skeletal muscle laminopathies [PDF]

, 2018
Laminopathies are a clinically and genetically heterogeneous group of 16 disorders caused by mutations in LMNA. This gene codes for lamin A and lamin C, which together with lamin B1 and B2 form the nuclear lamina, a mesh-like structure located underneath
Steele-Stallard, Heather
core   +1 more source

Generation and characterization of an isogenic gene-corrected iPSC line CARIMi009-A-1 from a Hutchinson-Gilford Progeria Syndrome (HGPS) patient with a heterozygous G608G mutation in the LMNA gene

Stem Cell Research
Hutchinson-Gilford Progeria Syndrome (HGPS) is an ultra-rare systemic laminopathy caused by a heterozygous point mutation in the LMNA gene encoding Lamin A/C (c.1824C > T, p.G608G).
Giuliana Lezzoche, Evangelia Ntotsia, Sandrine Seyen, Federica De Majo, Servé Olieslagers, Dylan Mostert, Leon J. de Windt   +6 more
doaj   +1 more source

The accumulation of un-repairable DNA damage in laminopathy progeria fibroblasts is caused by ROS generation and is prevented by treatment with N-acetyl cysteine

, 2011
Fibroblasts from patients with the severe laminopathy diseases, Restrictive Dermopathy (RD) & Hutchinson Gilford Progeria Syndrome (HGPS), are characterised by poor growth in culture, the presence of abnormally shaped nuclei and the accumulation of DNA ...
Shane A. Richards, Ritchie, P., Pamela Ritchie, Christopher J. Hutchison, Lattanzi, G., Joanne Muter, Muter, J., Richards, S.A., Hutchison, C.J., Giovanna Lattanzi   +9 more
core   +1 more source