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GlossaryLaminopathies

group of genetic disorders caused by LMNA gene mutations

Laminopathies are a group of rare genetic disorders caused by mutations in the LMNA gene, which encodes proteins called lamins. These proteins are crucial for maintaining the structural integrity of the cell nucleus. Laminopathies can lead to a variety of conditions, including muscular dystrophies, cardiomyopathies, and premature aging syndromes, affecting multiple systems in the body.

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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 Lamins in development, tissue maintenance and stress

64 citations , November 2012 in “EMBO reports”

Lamins are vital for cell survival, organ development, and preventing premature 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 Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts

August 2025 in “Cells”

CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.

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 Lentiginosis within plaques of linear atrophoderma of Moulin: a twin-spotting phenomenon?

9 citations , July 2010 in “British Journal of Dermatology”

The document suggests a rare skin condition might be caused by a genetic phenomenon.

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 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 Re-investigating the Basement Membrane Zone of Psoriatic Epidermal Lesions: Is Laminin-511 a New Player in Psoriasis Pathogenesis?

13 citations , June 2018 in “Journal of histochemistry and cytochemistry/The journal of histochemistry and cytochemistry”

Laminin-511 may contribute to psoriasis by affecting skin cell growth and survival.

research 438 Laminin-511 is a new player in the development of psoriasis and controlled via cannabinoid receptor type 1

April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology”

Laminin-511 is involved in psoriasis development and can be regulated by cannabinoid receptor type 1.

research Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome

1 citations , January 2013 in “Lung India”

Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.

research Lichen planus pigmentosus and lichen planopilaris

3 citations , January 2016 in “Dermatology online journal”

Some people with lichen planus pigmentosus might later develop frontal fibrosing alopecia.

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 “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 Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2

8 citations , April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

Certain genetic changes in the LSS gene cause a rare skin and hair condition.

research Deletion of the epidermis derived laminin γ1 chain leads to defects in the regulation of late hair morphogenesis

19 citations , May 2016 in “Matrix Biology”

Deleting a specific protein in skin cells disrupts normal hair growth and development.

research Basement membrane changes in lichen planopilaris

7 citations , June 2009 in “Journal of the European Academy of Dermatology and Venereology”

Basement membrane changes in lichen planopilaris cause scarring and permanent hair loss.

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 Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes

16 citations , July 2021 in “American Journal of Medical Genetics Part A”

Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.

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 Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice

23 citations , February 2020 in “PLOS genetics”

Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.

research Development and homeostasis of the sebaceous gland

107 citations , August 2012 in “Seminars in Cell & Developmental Biology”

The document concludes that understanding the sebaceous gland's development and function is key to addressing related skin diseases and aging effects.

research Beyond Expectations

70 citations , January 2014 in “International review of cell and molecular biology”

Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.

research How to diagnose a lipodystrophy syndrome

53 citations , June 2012 in “Annales d'Endocrinologie”

The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.

Recent Advances on Skin-Resident Stem/Progenitor Cell Functions in Skin Regeneration, Aging, and Cancers and Novel Anti-Aging and Cancer Therapies

research Recent advances on skin‐resident stem/progenitor cell functions in skin regeneration, aging and cancers and novel anti‐aging and cancer therapies

36 citations , September 2009 in “Journal of Cellular and Molecular Medicine”

New treatments targeting skin stem cells show promise for skin repair, anti-aging, and cancer therapy.

Cicatricial Alopecia Research Foundation Meeting, May 2016: Progress Towards the Diagnosis, Treatment, and Cure of Primary Cicatricial Alopecias

research Cicatricial Alopecia Research Foundation meeting, May 2016: Progress towards the diagnosis, treatment and cure of primary cicatricial alopecias

22 citations , January 2018 in “Experimental Dermatology”

The meeting focused on understanding, diagnosing, and finding treatments for irreversible hair loss diseases.

Cutaneous Features of Myotonic Dystrophy Types 1 and 2: Implications of Premature Aging and Vitamin D Homeostasis

research Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis

18 citations , November 2016 in “Neuromuscular Disorders”

Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.

research Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle

7 citations , July 2008 in “Experimental Dermatology”

The study concluded that a protein important for hair strength is regulated by certain molecular processes and is affected by growth phases.

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.