36 citations
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March 2014 in “Cell death and differentiation” Disrupting β-catenin signaling in certain cells causes anorectal malformations.
53 citations
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July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
6 citations
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November 2024 in “Frontiers in Immunology” Targeting autophagy can help treat skin disorders like vitiligo and atopic dermatitis.
40 citations
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March 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Growing hair follicles have high mitochondrial activity and ROS in specific regions, aiding hair formation.
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
8 citations
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October 2006 in “Current Pharmaceutical Design” Common gene patterns may cause skin autoimmune diseases.
3 citations
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
75 citations
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September 2017 in “Developmental biology” The circadian clock influences the behavior and regeneration of stem cells in the body.
11 citations
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January 2010 in “Current problems in dermatology” Ichthyoses are genetic skin disorders that affect the skin's barrier function.
January 2020 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” Polycomb Repressive Complex 1 is crucial for keeping stem cells stable and maintaining healthy adult tissues.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
April 2018 in “Journal of Investigative Dermatology” Dsg1 is essential for maintaining a healthy skin barrier in mice.
30 citations
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September 2016 in “Aging Cell” Low selenium levels can extend lifespan but worsen health issues.
22 citations
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January 2009 in “Advances in experimental medicine and biology” FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
4 citations
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January 2006 in “PubMed” DHT deficiency may disrupt rat epididymis function by affecting estrogen receptors.
August 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Normal cells outcompete and remove mutant cells in the pancreas with the help of the EphA2 receptor.
Arabidopsis Formin 2 stabilizes actin filaments to aid cell-to-cell trafficking.
1 citations
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April 2024 in “Journal of Cutaneous Pathology” Recurrent NICF is a rare skin condition with unclear causes, involving follicle inflammation and crystal deposits.
23 citations
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July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
April 2024 in “Journal of translational medicine” Melanocytes are important for normal body functions and have potential uses in regenerative medicine and disease treatment.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
2 citations
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November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Mutant stem cells adapt their metabolism differently to outcompete normal cells in the skin.
May 2026 in “International Journal of Molecular Medicine” The error was corrected without affecting the study's results.
October 2023 in “Oncotarget” Apoptotic cells help cause hair follicle cell death during regression.
January 2025 in “SSRN Electronic Journal”
Understanding genetics is crucial for treating heart and skin diseases.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.
April 2015 in “The FASEB Journal” Selenium deficiency worsens aging symptoms in mice.
5 citations
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May 2014 in “Clinical and Experimental Dermatology” Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.