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GlossaryEmery-Dreifuss muscular dystrophy (EDMD)

genetic disorder causing muscle weakness, joint contractures, and heart issues

Emery-Dreifuss muscular dystrophy (EDMD) is a genetic disorder characterized by progressive muscle weakness, joint contractures, and heart problems. It typically affects the skeletal muscles and the heart, leading to difficulties in movement and an increased risk of cardiac complications. EDMD can be inherited in an X-linked, autosomal dominant, or autosomal recessive manner, depending on the specific genetic mutation involved.

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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 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 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 Mutations in the Helix Termination Motif of Mouse Type I IRS Keratin Genes Impair the Assembly of Keratin Intermediate Filament

27 citations, November 2007 in “Genomics”

Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.

research The Charnoly Body as a Universal Biomarker of Cell Injury

6 citations, May 2014 in “Biomarkers and Genomic Medicine”

Charnoly bodies could be a marker for cell damage, and certain nutrients and proteins might prevent them, potentially helping with brain diseases and cancer.

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