165 citations
,
September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
17 citations
,
July 2013 in “Amino Acids” Increased ODC activity leads to skin tumors by recruiting stem cells, not by toxic byproducts.
10 citations
,
January 1997 in “Dermatology” Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
29 citations
,
July 2015 in “Journal of Medical Genetics” A genetic variant in the KRT25 gene causes tightly curled hair.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The TRPV3 channel structure changes linked to severe itch and hyperkeratosis were identified using cryo-EM.
19 citations
,
May 1984 in “Digestive diseases and sciences” A young woman's Cronkhite-Canada syndrome improved on its own after she gave birth.
9 citations
,
April 1970 in “Biochemical pharmacology” Stilbamidine and hydroxystilbamidine inhibit enzyme release from lysosomes and have effects similar to cortisol and chloroquine.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
4 citations
,
December 2014 in “European Journal of Chemistry” Iron chloride helps create compounds that could be useful in medicine, like treating hair loss.
2 citations
,
May 2023 in “Cancer medicine” KRT80 may worsen cancer by increasing growth and spread, but its full effects on treatment and outcomes need more research.
35 citations
,
May 2008 in “Journal of Clinical Oncology” A cancer patient died from a severe skin reaction after taking the drug cetuximab.
March 2025 in “OncoTargets and Therapy” A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
January 2004 in “Drug Development and Industrial Pharmacy” GI197111X is best dissolved in Capmul MCM for trials.
75 citations
,
February 2017 in “Aging” SkQ1 antioxidant improved health and lifespan in mice.
3 citations
,
January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
14 citations
,
April 2024 in “The Journal of Steroid Biochemistry and Molecular Biology” 5α-reductases increase epitestosterone's effect on androgen receptors.
July 2002 in “Science s STKE” Modified β-catenin causes different effects in hair and skin cells, leading to cysts or tumors.
2 citations
,
July 2019 in “PLOS ONE” Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
6 citations
,
March 2003 in “Archiv Der Pharmazie” Scientists made new substances that can block an enzyme linked to prostate issues and hair loss, with potential for creating a new treatment.
1 citations
,
June 2011 in “대한구강악안면외과학회지” A woman had a cyst in her salivary gland, likely from Botox, which was removed and confirmed as an epidermoid cyst.
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.
1 citations
,
January 2016 in “Medicinski glasnik Specijalne bolnice za bolesti štitaste žlezde i bolesti metabolizma” Most 46XX CAH patients have female identity, but a few identify as male and may need treatment and surgery.
354 citations
,
August 1991 in “Molecular Endocrinology” Human adrenals and gonads have a unique enzyme for steroid hormone production.
33 citations
,
September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
21 citations
,
January 2000 in “Fetal Diagnosis and Therapy” Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
35 citations
,
January 2013 in “The Journal of experimental medicine/The journal of experimental medicine” CD98hc's role in skin health decreases with age.