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Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case

Вопросы современной педиатрии, 2022
Progeria, or Hutchinson-Gilford Syndrome is a rare disease from the group of laminopathies characterized by premature aging with skin, bones and cardiovascular system lesions.
Natalia V. Buchinskaya, Aida Zh. Akhenbekova, Aliya A. Bugybay, Mikhail M. Kostik   +3 more
doaj   +3 more sources

Progeria

Indian Journal of Dental Research, 2009
Hutchinson Gilford Progeria Syndrome (HGPS) is a rare, sporadic, autosomal dominant syndrome that involves premature ageing and death at early age due to myocardial infarction or stroke.
Mohamed Riyaz S, Jayachandran S
doaj   +3 more sources

The telomeric protein AKTIP interacts with A- and B-type lamins and is involved in regulation of cellular senescence [PDF]

Open Biology, 2016
AKTIP is a shelterin-interacting protein required for replication of telomeric DNA. Here, we show that AKTIP biochemically interacts with A- and B-type lamins and affects lamin A, but not lamin C or B, expression.
Romina Burla, Mariateresa Carcuro, Mattia La Torre, Federica Fratini, Marco Crescenzi, Maria Rosaria D'Apice, Paola Spitalieri, Grazia Daniela Raffa, Letizia Astrologo, Giovanna Lattanzi, Enrico Cundari, Domenico Raimondo, Annamaria Biroccio, Maurizio Gatti, Isabella Saggio   +14 more
doaj   +5 more sources

Inhibition of DNA damage response at telomeres improves the detrimental phenotypes of Hutchinson–Gilford Progeria Syndrome [PDF]

Nature Communications, 2019
Hutchinson–Gilford progeria syndrome (HGPS) is a genetic disorder characterized by premature aging features. Cells from HGPS patients express progerin, a truncated form of Lamin A, which perturbs cellular homeostasis leading to nuclear shape alterations,
Julio Aguado, Agustin Sola-Carvajal, Valeria Cancila   +2 more
exaly   +3 more sources

Progeria

Nursing & Healthcare International Journal
Progeria is a rare genetic disease with striking features that resemble accelerated aging. The inheritance pattern, paternal age effect, and lack of consanguinity argue that it is due to a sporadic dominant mutation. We have observed elevated levels of hyaluronic acid (HA) excretion in progeria patients.
Saleh HM, Sickles CK, Gross GP.
europepmc   +4 more sources

Selection of specific and efficient siRNAs in new cellular model for Hutchinson-Gilford progeria syndrome therapy [PDF]

Molecular Therapy: Nucleic Acids
Hutchinson-Gilford progeria syndrome is a fatal genetic disorder caused by a point mutation in the gene encoding the nuclear envelope protein lamin A/C.
Volha Dzianisava, Katarzyna Piekarowicz, Magdalena Machowska, Ryszard Rzepecki   +3 more
doaj   +2 more sources

Mesenchymal Stem Cell Therapy for Hutchinson–Gilford Progeria: Improvements in Arterial Stiffness and Bone Mineral Density in a Single Case [PDF]

Children
Background/Objectives: Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disorder that cause premature aging due to LMNA mutations and progerin accumulation.
Eun-Young Joo, Ji-Sun Park, Hyun-Tae Shin, Myungji Yoo, Su-Jin Kim, Ji-Eun Lee, Gwang-Seong Choi   +6 more
doaj   +2 more sources

CDKN2A/p16INK4a expression is associated with vascular progeria in chronic kidney disease [PDF]

, 2017
Patients with chronic kidney disease (CKD) display a progeric vascular phenotype linked to apoptosis, cellular senescence and osteogenic transformation. This has proven intractable to modelling appropriately in model organisms.
Bárány, Peter, Luttropp, Karin, McGuinness, Dagmara, Nordfors, Louise, Olauson, Hannes, Qureshi, Abdul Rashid, Ripsweden, Jonaz, Schalling, Martin, Shiels, Paul G., Stenvinkel, Peter, Söderberg, Magnus, Wennberg, Lars, Wernerson, Annika, Witasp, Anna   +13 more
core   +3 more sources

Progerin reduces LAP2α-telomere association in Hutchinson-Gilford progeria

eLife, 2015
Hutchinson-Gilford progeria (HGPS) is a premature ageing syndrome caused by a mutation in LMNA, resulting in a truncated form of lamin A called progerin.
Alexandre Chojnowski, Peh Fern Ong, Esther SM Wong, John SY Lim, Rafidah A Mutalif, Raju Navasankari, Bamaprasad Dutta, Henry Yang, Yi Y Liow, Siu K Sze, Thomas Boudier, Graham D Wright, Alan Colman, Brian Burke, Colin L Stewart, Oliver Dreesen   +15 more
doaj   +2 more sources

National survey of Hutchinson-Gilford progeria syndrome and progeroid laminopathy in Japan. [PDF]

Aging (Albany NY)
Okawa Y, Matsuo M, Kosaki R, Tonoki H, Fujimoto M, Ozono K, Saitou H, Kubota T, Ohata Y, Namba N, Akaboshi S, Komaki H, Inagaki N, Kato E, Maruo Y, Yonekawa T, Nakamura T, Hayashi K, Miwa S, Magota M, Ihara K.   +20 more
europepmc   +3 more sources