July 2024 in “Journal of Investigative Dermatology” ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
3 citations
,
December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
Sox13 is a marker for early hair follicle development but not essential for skin and hair growth.
19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
April 2019 in “Journal of Investigative Dermatology” Researchers created a new mouse model for studying scleroderma.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
62 citations
,
December 2007 in “Journal of biological chemistry/The Journal of biological chemistry” A specific chemical change in the S100A3 protein leads to the formation of a four-part structure important for hair formation.
January 2013 in “University Libraries (University of Maryland)” Selenium helps protect cells from aging and damage, especially under stress.
January 2022 in “Archiv für Tierzucht” EPHA4 and Ephrin A3 are found in the skin of Aohan fine-wool sheep.
1 citations
,
February 2025 in “Journal of Dairy Science” The SLICK1 allele in Holstein heifers affects hair and immune traits without altering prolactin signaling.
7 citations
,
March 2021 in “Journal of Investigative Dermatology” Lipases, especially gehB, are crucial for Staphylococcus aureus to enter and colonize hair follicles.
April 2025 in “The Egyptian Journal of Surgery” The SASJ bypass is a safe and effective surgery for weight loss and improving health conditions.
5 citations
,
April 2014 in “Journal of Lipid Research” SCD1 inhibitors can cause skin issues in rodents.
25 citations
,
June 2014 in “Journal of Endocrinology/Journal of endocrinology” Human sebaceous glands contain enzymes that affect androgen production and may influence sebum production and acne.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
June 2025 in “Neurology India” Anti-SRP myopathy can be linked to systemic lupus erythematosus and may improve with specific treatment.
12 citations
,
February 2021 in “Translational Psychiatry” Researchers found two new genetic variants linked to Alzheimer's disease.
April 2019 in “Journal of Investigative Dermatology” The search scheme SMRI is faster and more secure for retrieving encrypted data from the cloud.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
January 2006 in “OpenCommons at University of Connecticut (University of Connecticut)” Overexpressing AVP1 and AtNHX1 in plants improves salt tolerance and root hair development.
November 2022 in “Journal of Investigative Dermatology” Scientists found a new type of skin cell that could help with skin repair and these cells work better with a certain protein.
54 citations
,
December 2011 in “American Journal Of Pathology” A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
26 citations
,
March 2006 in “Endocrine, metabolic & immune disorders. Drug targets” This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 protein helps keep sebaceous gland size and cell growth in check.
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.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
April 2026 in “Cellular and Molecular Immunology” SPT6 prevents excessive skin inflammation by blocking a feedback loop.
100 citations
,
March 2006 in “Journal of biological chemistry/The Journal of biological chemistry” Cystatin M/E strongly inhibits cathepsin V and cathepsin L, important for skin formation.
October 2023 in “Journal of the Endocrine Society” A woman was diagnosed with Sheehan's syndrome and a rare complication of diabetes insipidus 33 years after symptoms began, improving with hormone therapy.