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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 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.

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 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 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 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 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 Presentation, diagnosis, and management options of lipedematous alopecia

9 citations , December 2018 in “JAAD case reports”

Lipedematous alopecia involves a thickened scalp and hair loss, with limited effective treatments available.

research Lipedematous alopecia: an uncommon clinicopathologic variant of nonscarring but permanent alopecia

30 citations , May 2008 in “International Journal of Dermatology”

Lipedematous alopecia causes permanent hair loss due to increased scalp fat.

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.

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 Lipedematous alopecia with mucinosis: report of the first case in Taiwan

2 citations , January 2011 in “Dermatologica Sinica”

Taiwan reported its first case of a rare scalp condition with no clear cause or treatment.

research Rare Concurrence of Alopecia Areata in the Setting of the Lipedematous Scalp

September 2022 in “The American journal of dermatopathology/American journal of dermatopathology”

A patient with a thick scalp and hair loss was correctly diagnosed with alopecia areata and a thick scalp fat layer, not lipedematous alopecia, and regrew hair after treatment.

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.

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 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 A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report

2 citations , January 2024 in “Revista Paulista de Pediatria”

A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.

research Lipedematous alopecia, an entity on the rise

June 2022 in “Authorea (Authorea)”

A 59-year-old woman was diagnosed with a rare hair loss condition called lipedematous alopecia.

research Generation and Characterization of Multipotent Stem Cells from Established Dermal Cultures

58 citations , November 2012 in “PLoS ONE”

Human skin cells can be turned into versatile stem cells, but their ability to do so decreases with repeated use.

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.

research Acanthosis nigricans and the metabolic syndrome

30 citations , September 2017 in “Clinics in Dermatology”

Acanthosis nigricans is a skin condition that may indicate a higher risk for insulin resistance and type 2 diabetes, and more research is needed to understand and treat it.

research miR-29 is an important driver of aging-related phenotypes

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

miR-29 is a key factor that accelerates aging.

The 46th Annual Meeting of the Irish Endocrine Society Programme and Abstracts 2022

research The 46th Annual Meeting of the Irish Endocrine Society Meeting Programme and Abstracts 2022

October 2024 in “Irish Journal of Medical Science (1971 -)”

Electrical stimulation with a low-calorie diet reduces appetite, weight, and blood pressure in obese people with sleep apnea.

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.

Lichen Planopilaris: Chronic Scarring Alopecia with Autoimmune Component

research Lichen planopilaris

90 citations , July 2008 in “Dermatologic therapy”

Lichen planopilaris is a chronic, scarring hair loss condition with no definitive cure, requiring accurate diagnosis and treatment to manage symptoms.