67 citations
,
December 2013 in “Journal of Biological Chemistry” SCD1 is crucial for skin health and overall energy balance.
April 2023 in “Journal of Investigative Dermatology” MPZL3 protein helps control the size of oil glands and the growth of oil-producing cells in both mice and humans.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
1 citations
,
January 2019 in “International Journal of Medical Reviews and Case Reports” Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
5 citations
,
November 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Wnt/β-catenin signaling is important for keeping skin cell attachment structures stable.
2 citations
,
October 2023 in “PubMed” Scientists created a cell model to study and find treatments for a skin disease called RDEB.
19 citations
,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
48 citations
,
March 2003 in “International Journal of Cancer” DMBT1 and galectin-3 may help suppress epithelial skin cancer.
25 citations
,
November 2015 in “Journal of Dermatological Science” Sebum helps protect human skin from microbes.
December 2025 in “Cureus” Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
18 citations
,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
2 citations
,
August 2016 in “Journal of Investigative Dermatology” 22 citations
,
June 1994 in “Journal of Investigative Dermatology” 19 citations
,
May 2016 in “Matrix Biology” Deleting a specific protein in skin cells disrupts normal hair growth and development.
Removing SIX1 in fat cells reduces skin fibrosis.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
29 citations
,
December 2004 in “Developmental biology” cDermo-1 causes dense skin, feathers, and scales in chickens.
10 citations
,
July 2021 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” LRIG1 is linked to better survival in Merkel cell carcinoma.
5 citations
,
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
53 citations
,
June 1983 in “Journal of Investigative Dermatology” The enzyme is crucial for skin cell development and can be activated without proteolytic activation.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
37 citations
,
January 1993 in “Journal of Investigative Dermatology”
2 citations
,
August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing Lrig1-positive stem cells in mice causes temporary loss of sebaceous glands.
November 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” DAB labeling effectively identifies collagen type III and PDGFR in horse skin, but may show false positives.
September 2019 in “Journal of Investigative Dermatology” Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.