November 2023 in “Scientific reports” The research identified and described a gene important for hormone conversion in endangered catfish, which varies in activity during different reproductive stages and after hormone treatment.
4 citations
,
March 2018 in “Animal biotechnology” The LAMTOR3 gene is involved in cashmere goat hair growth and is affected by certain treatments and other genes.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
15 citations
,
May 2016 in “Archives of Dermatological Research” ULBP3 could be a marker for diagnosing alopecia areata incognita and may be linked to its cause and development.
3 citations
,
May 2016 in “Dermatopathology” Lrig1 could be a marker for advanced sebaceous carcinoma.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
24 citations
,
December 2018 in “Life sciences” Lysophosphatidic acid is important for skin health and disease, and could be a target for new skin disorder treatments.
May 2021 in “Indian journal of forensic medicine and toxicology” Two patients with heart issues had successful surgeries and improved symptoms.
January 2026 in “Journal of Dermatological Science” DcR3 helps heal wounds and regrow hair by changing macrophages to a repair-focused type.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
16 citations
,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
20 citations
,
July 2017 in “Scientific Reports” A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
12 citations
,
September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Double-stranded RNA helps regenerate hair follicles by increasing retinoic acid production and signaling.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
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.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Two sisters with lipoedematous scalp suggest a genetic influence in the condition.
3 citations
,
September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
3 citations
,
April 2012 in “Journal of the American Academy of Dermatology” Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.
24 citations
,
July 2015 in “Molecular Medicine Reports” Lysophosphatidic acid boosts stem cell growth and movement by creating reactive oxygen species.
January 2025 in “International Journal of Molecular Sciences” Non-liganded Vitamin D Receptor is crucial for healthy skin and hair.
117 citations
,
April 2008 in “Developmental biology” Ectodysplasin inhibits Wnt signaling to help form hair follicles.
81 citations
,
November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
April 2019 in “Journal of Investigative Dermatology” Lichen planopilaris involves disrupted fat metabolism, increased scarring, and mast cell activity.
August 2024 in “Latin American Journal of Development” 5α-reductase enzymes are crucial in certain disorders, and while treatment advances exist, more research on SRD5A3 is needed.
258 citations
,
July 2005 in “Journal of lipid research” DGAT1 enzyme helps make diacylglycerols, waxes, and retinyl esters.
2 citations
,
January 2021 in “American Journal of Case Reports” A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.