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GlossaryLMNA gene (LMNA)

provides instructions for making proteins crucial for cell nucleus structure

The LMNA gene, also known as the Lamin A/C gene, provides instructions for making proteins called lamin A and lamin C, which are crucial for maintaining the structure and function of the cell nucleus. Mutations in this gene can lead to a variety of disorders, including certain types of muscular dystrophy, cardiomyopathy, and progeria, a condition that causes accelerated aging.

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A 10 Mb Duplication in Chromosome Band 5q31.3–5q33.1 Associated with Late-Onset Lipodystrophy, Ichthyosis, Epilepsy, and Glomerulonephritis

research A 10 Mb Duplication in Chromosome Band 5q31.3–5q33.1 Associated with Late-Onset Lipodystrophy, Ichthyosis, Epilepsy, and Glomerulonephritis

5 citations , May 2011 in “European Journal of Medical Genetics”

A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.

research High-Throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort

2 citations , July 2022 in “Journal of the Endocrine Society”

Some women with PCOS have rare genetic variants linked to the condition.

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 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 Risk Factors, Prevalence, and Diagnosis of Hutchinson-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.

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