November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
27 citations
,
April 2004 in “Biochemical and Biophysical Research Communications” Two new gene clusters important for hair formation were found on human chromosome 11.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
January 2025 in “Cell Communication and Signaling” CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” CTCF protein is essential for skin and hair follicle development in mice.
43 citations
,
February 2008 in “Journal of cutaneous pathology” Melanocyte precursors in human fetal skin follow a specific migration pattern and some remain in the skin's deeper layers.
26 citations
,
February 1998 in “DNA and Cell Biology” K6 gene expression can be controlled and manipulated in mice for studying skin disorders.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
33 citations
,
May 2018 in “Stem Cell Reports” Krt15+ cells in the mouse intestine resist radiation and can start tumors.
49 citations
,
January 1972 in “Biochimica et Biophysica Acta (BBA) - Protein Structure”
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
7 citations
,
August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” IGN genes may regulate hair growth and could be targeted for hair-loss treatments.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
10 citations
,
August 1998 in “Journal of Investigative Dermatology” 5 citations
,
December 2022 in “Molecular Biology” Effective delivery of gene editors is crucial for safe and successful gene editing in healthcare and agriculture.
3 citations
,
January 1984 32 citations
,
November 1998 in “Journal of Biological Chemistry” Mouse and human keratin 16 can both form filaments, with differences likely due to the tail domain, not the helical domain.
5 citations
,
May 2023 in “European Journal of Human Genetics” NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
133 citations
,
June 1993 in “Molecular and Cellular Biology” The human K5 promoter controls specific gene expression in skin cells, with key regulatory elements near the TATA box.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
7 citations
,
August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Researchers created an efficient method to extract DNA from marmoset hair, avoiding blood chimerism.
February 2026 in “Small Ruminant Research” The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
Par3–mInsc and Gαi3 work together to ensure proper cell division orientation in skin development.
January 2005 in “Enlighten: Publications (The University of Glasgow)” Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.
ETS2 drives cancer progression in squamous cell carcinoma and is linked to poor patient outcomes.
January 2024 in “Doria (University of Helsinki)” Keratins help GLUT2 stay on the cell membrane in pancreatic β-cells.
2 citations
,
December 2020 in “Developmental cell” Chemotherapy drugs can cause abnormal growth and changes in healthy skin and gland cells.
37 citations
,
April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.