April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
67 citations
,
December 2013 in “Journal of Biological Chemistry” SCD1 is crucial for skin health and overall energy balance.
66 citations
,
October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
5 citations
,
September 2018 in “International journal of genomics” Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
11 citations
,
December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
36 citations
,
March 2014 in “Cell death and differentiation” Disrupting β-catenin signaling in certain cells causes anorectal malformations.
53 citations
,
July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
6 citations
,
November 2024 in “Frontiers in Immunology” Targeting autophagy can help treat skin disorders like vitiligo and atopic dermatitis.
40 citations
,
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
,
October 2006 in “Current Pharmaceutical Design” Common gene patterns may cause skin autoimmune diseases.
3 citations
,
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
,
September 2017 in “Developmental biology” The circadian clock influences the behavior and regeneration of stem cells in the body.
11 citations
,
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
,
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
,
September 2016 in “Aging Cell” Low selenium levels can extend lifespan but worsen health issues.
22 citations
,
January 2009 in “Advances in experimental medicine and biology” FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
7 citations
,
January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
4 citations
,
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
,
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
,
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
,
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Mutant stem cells adapt their metabolism differently to outcompete normal cells in the skin.
October 2023 in “Oncotarget” Apoptotic cells help cause hair follicle cell death during regression.