2 citations
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June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
101 citations
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October 2007 in “Journal of Biological Chemistry” Reduced matriptase activity causes skin and hair issues in both humans and mice.
4 citations
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September 2020 in “Cell division” XMU-MP-1 stops cell growth in a human mini-organ and reduces the effectiveness of the chemotherapy drug paclitaxel.
July 2002 in “Science Signaling” Modified β-catenin can cause different effects in mouse skin cells, leading to cysts or tumors depending on the cell type.
26 citations
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June 2003 in “PubMed” Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
3 citations
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August 2022 in “Biochemical Genetics” 54 citations
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January 1995 in “Human Molecular Genetics” Monilethrix is linked to a gene cluster on chromosome 12.
35 citations
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May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
3 citations
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October 2021 in “The Application of Clinical Genetics” Certain gene changes in osteopontin are linked to higher risk of atopic dermatitis and asthma.
53 citations
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August 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
82 citations
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February 2017 in “Cold Spring Harbor Perspectives in Biology” The TGF-β family helps control how cells change and move, affecting skin, hair, and organ development.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
31 citations
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November 2015 in “PloS one” Reducing Tyrosinase prevents mature color pigment cells from forming in mouse hair.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
6 citations
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January 2013 in “Chemical & pharmaceutical bulletin/Chemical and pharmaceutical bulletin” A new compound shows promise as a topical treatment for hair loss.
166 citations
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September 2011 in “The Journal of Cell Biology” p63 controls Satb1 to help skin develop properly.
37 citations
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November 2007 in “Journal of Biological Chemistry” Ku80 is a key receptor for Thymosin β4, affecting cell migration and wound healing.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
April 2017 in “Journal of Dermatological Science” B cells can both help and hinder the body's defense against melanoma.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Folliculotropic mycosis fungoides has unique molecular features and cell interactions that could guide targeted therapy.
April 2016 in “Journal of Investigative Dermatology” The Engrailed-1 gene plays a key role in the development of sweat glands in mice.
6 citations
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet2 and Tet3 enzymes are important for controlling hair growth and shape by affecting gene activity and DNA structure in hair follicles.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
99 citations
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May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
April 2023 in “Journal of Investigative Dermatology” TGFβ-2 may cause hair loss in androgenetic alopecia.
9 citations
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November 2021 in “Frontiers in Cell and Developmental Biology” PBX1 helps reduce aging and cell death in hair follicle stem cells by decreasing DNA damage, not by improving DNA repair.
4 citations
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January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.