June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
10 citations
,
June 2022 in “Biomedicine & Pharmacotherapy” ARTS helps stop tumors by promoting cell death.
November 2025 in “The Journal of Immunology” BST2 is highly expressed in certain immune cells in alopecia areata, suggesting a role in the disease.
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
10 citations
,
January 2013 in “Stem Cells and Development” Scientists identified a unique type of human skin stem cell that could help with tissue repair.
39 citations
,
February 2011 in “The Prostate/The prostate” Some men's prostate tissues have low enzyme levels due to genetic changes, possibly affecting treatment for prostate enlargement.
11 citations
,
February 2018 in “Oncotarget” Lower SMAD2/3 activation predicts more severe skin cancer.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
63 citations
,
November 1999 in “British journal of dermatology/British journal of dermatology, Supplement” Hair sensitivity to androgens is partly controlled by specific enzyme expressions in different hair areas.
12 citations
,
May 2016 in “British Journal of Dermatology” A 6-year-old boy's skin condition improved after stopping a specific treatment and starting new medications.
6 citations
,
April 2012 in “Journal of Oral Pathology and Medicine” Rushton's hyaline bodies form from hair keratin and blood substances.
51 citations
,
December 2006 in “Mammalian Genome” June 2026 in “Archives of Dermatological Research” The rs4541843 variant is linked to higher risk and severity of alopecia areata.
March 2021 in “Medico-Legal Update” The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.
11 citations
,
July 2015 in “Journal of Anatomy” SLVs help maintain muscle stretch sensitivity and could aid in treating hypertension and muscle spasticity.
8 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
58 citations
,
June 2018 in “Scientific reports” Researchers found 15 new genetic links to skin traits in Japanese women.
April 2024 in “Human genomics” Identified genes linked to male-pattern baldness may help develop new treatments.
January 2002 in “映像情報メディア学会技術報告” Some prostate cancers have gene changes that may affect treatment with certain drugs.
3 citations
,
January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
33 citations
,
October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
February 2024 in “Skin Research and Technology” Microneedle therapy combined with serum effectively increases hair count in people with hair loss, with no side effects.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
January 2024 in “PloS one” Rat hair-follicle stem cells can become heart cells with specific supplements.
56 citations
,
April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
1 citations
,
May 2004 in “Biochemical and Biophysical Research Communications” Two new gene clusters important for hair formation were found on human chromosome 11.