Results 21 to 30 of about 4,013 (114)

Low and high expressing alleles of the LMNA gene: implications for laminopathy disease development. [PDF]

PLoS ONE, 2011
Today, there are at least a dozen different genetic disorders caused by mutations within the LMNA gene, and collectively, they are named laminopathies.
Sofía Rodríguez, Maria Eriksson
doaj   +1 more source

Hutchinson-Gilford progeria syndrome: a rare premature ageing syndrome

Przegląd Dermatologiczny, 2020
Hutchinson-Gilford progeria syndrome is an extremely rare genetic disorder characterized by premature ageing involving the skin, bones, heart, and blood vessels. The incidence is 1 in several million births.
Iti Varshney, Mohammad Adil, Syed Suhail Amin, Mohd Mohtashim, Annu Priya, Mahtab Alam   +5 more
doaj   +1 more source

A 3-year-old girl with old face appearance: Case report

Journal of Dermatology and Dermatologic Surgery, 2022
Hutchinson–Gilford Progeria Syndrome (HGPS) is a genetic disorder. Patients who suffer from this disorder show premature aging and a “plucked-bird” appearance on the face. This case reports a 3-year-old female, who manifested the symptoms of HGPS.
Hamad A Alfahaad
doaj   +1 more source

Rapid and robust derivation of mesenchymal stem cells from human pluripotent stem cells via temporal induction of neuralized ectoderm

Cell & Bioscience, 2022
Background Mesenchymal stem cells (MSCs) are emerging as the mainstay of regenerative medicine because of their ability to differentiate into multiple cell lineages.
Wei Jin, Yi He, Tuo Li, Fei Long, Xin Qin, Yuan Yuan, Ge Gao, Hosen Md Shakhawat, Xinguang Liu, Guoxiang Jin, Zhongjun Zhou   +10 more
doaj   +1 more source

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   +1 more source

Targeting of NAT10 enhances healthspan in a mouse model of human accelerated aging syndrome

Nature Communications, 2018
Hutchinson-Gilford Progeria Syndrome is characterized by premature aging with cardiovascular disease being the main cause of death. Here the authors show that inhibition of the NAT10 enzyme enhances cardiac function and fitness, and reduces age-related ...
Gabriel Balmus, Delphine Larrieu, Ana C. Barros, Casey Collins, Monica Abrudan, Mukerrem Demir, Nicola J. Geisler, Christopher J. Lelliott, Jacqueline K. White, Natasha A. Karp, James Atkinson, Andrea Kirton, Matt Jacobsen, Dean Clift, Raphael Rodriguez, Sanger Mouse Genetics Project, David J. Adams, Stephen P. Jackson   +17 more
doaj   +1 more source

Hutchinson - Gilford progeria syndrome: A rare case report

Indian Dermatology Online Journal, 2014
Hutchinson - Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a three-year-old boy with clinical manifestations characteristic of this syndrome.
Subhash Kashyap, Vinay Shanker, Neeraj Sharma   +2 more
doaj   +1 more source

Simultaneous Shoulder and Hip Dislocation in a 12-Year-Old Girl with Hutchinson-Gilford Progeria Syndrome [PDF]

Acta Medica Iranica, 2012
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature ageing disorder that is characterized by accelerated degenerative changes of the cutaneous, musculoskeletal and cardiovascular systems.
Ramin Espandar, Amir Sobhani Eraghi, Shirin Mardookhpour   +2 more
doaj   +1 more source

Hutchinson-Gilford Progeria Syndrome

Online Journal of Health & Allied Sciences, 2014
Hutchinson-Gilford Progeria syndrome (HGPS) is a rare pediatric genetic syndrome associated with a characteristic aged appearance very early in life, generally leading to death in the second decade of life.
Gopal G, Belavadi GB
doaj  

Mutations Involved in Premature-Ageing Syndromes

The Application of Clinical Genetics, 2021
Fabio CoppedèDepartment of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, ItalyCorrespondence: Fabio CoppedèDepartment of Translational Research and of New Surgical and Medical Technologies ...
Coppedè F
doaj