Results 11 to 20 of about 491 (128)
Premature aging of the body - the role of laminopathy [PDF]
Farmacja Polska, 2021 Aging is a process, that went off inevitable and it is associated with the accumulation of macromolecular damage, genomic instability, and loss of heterochromatin. All these changes conduct to deterioration function of stem cells and reducing the ability
Julia Wiśniewska +7 more
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Cells, 2021 Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disease caused by a mutation in LMNA. A G608G mutation in exon 11 of LMNA is responsible for most HGPS cases, generating a truncated protein called “progerin”.
Jennifer M. Röhrl +2 more
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Case of mandibuloacral dysplasia with type B lipodystrophy
Indian Journal of Paediatric Dermatology, 2021 Introduction: Mandibuloacral dysplasia with type B lipodystrophy (MADB) caused by compound heterozygous mutation in the ZMPSTE24 gene is characterized by generalized lipodystrophy and short stature.
Sanober Burzin Daruwalla +3 more
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Di-san junyi daxue xuebao, 2019 Objective To study the changes in the metabolic activity of brown adipose tissues in a mouse model of progeria using Cerenkov luminescence imaging. Methods 18F-FDG PET/CT imaging and Cerenkov luminescence imaging were used to dynamically monitor the ...
WANG Zhengjie +4 more
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Progeria in siblings: A rare case report
Indian Journal of Dermatology, 2011 Progeria, also known as Hutchinson-Gilford syndrome, is an extremely rare, severe genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. It is an autosomal dominant disorder.
R Sowmiya, D Prabhavathy, S Jayakumar
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The decision‐making process and criteria in selecting candidate drugs for progeria clinical trials
EMBO Molecular Medicine, 2016 Hutchinson–Gilford progeria syndrome (progeria) is an extremely rare premature aging disease with a population prevalence of 1 in 20 million. Nevertheless, propelled by the discovery of a causal mutation in the lamin A/C gene (LMNA) (De Sandre‐Giovannoli
Leslie B Gordon +3 more
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Early Onset Diabetes in Two Children due to Progeria, a Monogenic Disease of DNA Repair
JCRPE, 2020 Progeria syndrome is a rare disorder in childhood which causes accelerated systemic aging. Due to the accelerated aging process, disorders which normally occur only in old age will appear in these children at a much younger age.
Martin Holder, Valerie Schwitzgebel
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Nature Communications, 2020 Hutchinson-Gilford progeria syndrome is a genetic disease where an aberrant form of Lamin A disrupts chromatin by interfering with lamina associated domains.
Endre Sebestyén +11 more
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Conservatively managed extradural haematoma in a child with progeria
Interdisciplinary Neurosurgery, 2019 Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder characterised by premature ageing. We report a case of a 13-year-old girl with HGPS who presented with an extradural haematoma following head injury.
Kapil Mohan Rajwani +4 more
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