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GlossaryHutchinson-Gilford Progeria Syndrome

rare genetic disorder causing rapid aging in children

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disorder characterized by rapid aging in children, typically becoming apparent within the first two years of life. It is caused by a mutation in the LMNA gene, which leads to the production of an abnormal protein called progerin, resulting in cellular instability and the accelerated aging process.

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research Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease

85 citations , March 2008 in “Journal of Cell Science”

The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.

research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin

48 citations , April 2008 in “Human Molecular Genetics”

Progerin affects cell shape but not hair or skin in mice.

research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment

39 citations , January 2019 in “Cells”

Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.

research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies

4 citations , May 2023 in “Cells”

Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.

research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China

3 citations , September 2013 in “Journal of the American Academy of Dermatology”

A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.

research Hutchinson-gilford progeria syndrome and its relevance to cardiovascular diseases and normal aging.

3 citations , May 2013 in “PubMed”

Research on Hutchinson-Gilford progeria syndrome could help understand normal aging and heart disease.

research Impaired Lef1 activation accelerates iPSC-derived keratinocytes differentiation in Hutchinson-Gilford Progeria Syndrome

2 citations , February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)”

Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.

research A 13-Year-Old Boy from Thailand with Hutchinson-Gilford Progeria Syndrome with Coronary Artery and Aortic Calcification and Non-ST-Segment Elevation Myocardial Infarction (NSTEMI)

2 citations , January 2021 in “American Journal of Case Reports”

A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.

research Hutchinson-Gilford progeria syndrome - A brief introduction

2 citations , June 2018 in “International Journal of Pharmacological Research”

Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.

research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review

1 citations , October 2023 in “Heliyon”

An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.

research Impaired LEF1 Activation Accelerates iPSC-Derived Keratinocytes Differentiation in Hutchinson-Gilford Progeria Syndrome

1 citations , May 2022 in “International journal of molecular sciences”

Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.

research Hutchinson-Gilford Progeria Syndrome: Premature Aging

April 2026

RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.

research Ocular manifestations of Hutchinson-Gilford-Progeria syndrome: A rare presentation

June 2022 in “Indian journal of clinical and experimental opthalmology”

The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.

research Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance

March 2011 in “Open Archive (Karolinska Institutet)”

The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.

research Molecular studies of Hutchinson-Gilford progeria syndrome

May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)”

Suppressing the HGPS mutation may improve symptoms and suggest reversibility.

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

1 citations , July 2022 in “Вопросы современной педиатрии”

Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.

Risk Factors, Prevalence, and Diagnosis of Hutchinson-Gilford Syndrome with Special Reference to Case Reports

research RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS

2 citations , May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences”

Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.

research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances

June 2023 in “Zenodo (CERN European Organization for Nuclear Research)”

Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.

research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances

June 2023 in “GSC Advanced Research and Reviews”

Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.

research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations

115 citations , October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism”

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

research Premature aging syndromes: From patients to mechanism

29 citations , October 2019 in “Journal of dermatological science”

Studying premature aging syndromes helps understand human aging and suggests potential treatments.

research Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis

11 citations , March 2019 in “EMBO molecular medicine”

A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.

research Ocular manifestation in progeria: A case report

July 2020 in “Nepalese journal of ophthalmology”

A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.

research Genetics of Progeria and Aging

January 2018 in “Elsevier eBooks”

Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.

research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers

2 citations , June 2013 in “Journal of Clinical Pathology”

The LMNA mutation affects skin structure even in asymptomatic carriers.

research Integration of Biochemical and Mechanical Signals at the Nuclear Periphery: Impacts on Skin Development and Disease

January 2018 in “Stem cell biology and regenerative medicine”

The conclusion is that the nuclear lamina and LINC complex in skin cells respond to mechanical signals, affecting gene expression and cell differentiation, which is important for skin health and can impact skin diseases.

research Nucleocytoplasmic Communication in Progeria

April 2014 in “Libra”

Defective nuclear transport may cause gene expression changes in Progeria.

research Inhibition of JAK-STAT Signaling with Baricitinib Reduces Inflammation and Improves Cellular Homeostasis in Progeria Cells

51 citations , October 2019 in “Cells”

Baricitinib reduces inflammation and improves cell health in premature aging cells.

research Geriatric Dermatology: Overview

May 2013 in “Springer eBooks”

Skin problems in the elderly are unique and may indicate other diseases, involving changes in skin, hair, nails, and increased cancer risk.

research From structural resilience to cell specification — Intermediate filaments as regulators of cell fate

9 citations , November 2020 in “The FASEB journal”

Intermediate filaments are crucial for cell differentiation and stem cell function.