January 2025 in “Nature Communications” CPK1 helps root hair growth in Arabidopsis by activating channels for calcium signaling.
14 citations
,
June 2012 in “Stem Cells” TACE/ADAM17 is essential for maintaining healthy hair and hair follicle stem cells.
15 citations
,
February 2020 in “Journal of Investigative Dermatology” Ceramide Synthase 4 is crucial for healthy skin barrier function.
44 citations
,
January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Key genes affect cashmere quality differences between Jiangnan and Changthangi goats.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” HPV8 E6 gene causes growth of certain skin stem cells.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
July 2021 in “British Journal of Dermatology” The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
The KRTAP36-1 gene affects wool quality in Chinese Tan lambs.
1 citations
,
September 2023 in “Genes” DNA methylation likely doesn't cause different lambskin patterns in Hu sheep.
September 2023 in “Çukurova medical journal (Online)/Çukurova medical journal” EZH2 levels decrease as fetuses develop and are higher in adult skin, which may affect skin growth and repair.
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.
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.
October 2025 in “Cell Death and Disease” CD271 is crucial for maintaining healthy skin and preventing inflammation.
11 citations
,
August 2006 in “Cell Biology International” Endothelin-1 helps amelanotic melanocytes stick and move better on certain proteins.
5 citations
,
September 2013 in “BMB Reports” BMPR1a-ECD reduces wrinkles much more effectively than retinoic acid.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
54 citations
,
July 2017 in “Scientific Reports” JMJD3 and NF-κB activate Notch1, which is essential for skin cell movement and wound healing.
9 citations
,
January 2015 in “Medical hypotheses” TCDD disrupts skin stem cells, causing skin issues like chloracne.
14 citations
,
September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
May 2026 in “International Journal of Drug Delivery Technology” Accurate diagnosis of EFFC is crucial for effective counseling and cosmetic care.
3 citations
,
November 2021 in “Frontiers in Genetics” Certain genes are linked to the quality of cashmere in goats.
3 citations
,
June 2004 in “Työväentutkimus Vuosikirja” Ectodermal dysplasia syndromes are caused by disruptions in key signaling pathways affecting tooth and hair development.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
March 2026 in “Journal of Investigative Dermatology”
12 citations
,
September 2021 in “PLoS ONE” WNT10A and EBF1 interaction affects hair growth in male-pattern baldness.
June 2020 in “Journal of Investigative Dermatology” Atopic dermatitis shows a link between skin layers in inflammation, detectable with detailed gene analysis.
November 2025 in “American Journal of Case Reports” Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
4 citations
,
October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
4 citations
,
December 2016 in “Blood” A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.