The case shows the difficulty in diagnosing certain conditions when standard tests are negative.
2 citations
,
October 2020 in “Journal of Pharmacology and Experimental Therapeutics” Minoxidil does not work to inhibit lysyl hydroxylases in newborn mouse lungs.
3 citations
,
April 2023 in “Frontiers in Pharmacology” ATP-sensitive K+ channel subunits, particularly Sur2A, play a significant role in various cancers.
9 citations
,
April 2019 in “Bioscience, biotechnology, and biochemistry” Ten miRNAs may play key roles in starting secondary hair follicle development in sheep foetuses.
1 citations
,
August 2025 in “Journal of Human Immunity” Minoxidil helps restore thymus size in 22q11.2 deletion syndrome.
April 2026 in “International Journal of Molecular Sciences” Wnt signaling is crucial for skin, hair, and nail health and regeneration.
9 citations
,
August 2020 in “International Journal of Molecular Sciences” New compounds may help treat heart disease by activating specific potassium channels.
1 citations
,
January 2025 in “JAAD reviews.” Hypertrichosis involves excessive hair growth and needs careful diagnosis and treatment, considering its psychological effects.
10 citations
,
October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
49 citations
,
October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
11 citations
,
November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
109 citations
,
November 2011 in “Nature Neuroscience” September 2025 in “Genes” Certain gene variations in Jiangnan cashmere goats are linked to important traits like birth weight and fiber quality, useful for breeding.
21 citations
,
October 2013 in “Molecular Biology of the Cell” The protein CCN2 controls hair growth by affecting hair follicle formation and stem cell activity in mice.
12 citations
,
January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
29 citations
,
February 2001 in “Proceedings of the National Academy of Sciences” A specific DNA region controls skin cell gene expression by working with certain proteins.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
68 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” HOXC13 is essential for hair and nail development by regulating Foxn1.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
19 citations
,
February 2016 in “Journal of Biological Chemistry” KCNQ potassium channels help control the sensitivity of touch receptors in the skin.
7 citations
,
October 2023 in “BMC Genomics” Noncoding RNAs help determine cashmere quality in goats.
70 citations
,
December 2008 in “Cancer Research” CXCR2 in skin cells promotes tumor growth.
January 2025 in “Cell Communication and Signaling” CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
178 citations
,
May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
141 citations
,
February 1988 in “Molecular and Cellular Biology” Only one K16 gene on chromosome 17 makes a functional keratin protein.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the CD271 gene in mouse skin cells leads to disorganized skin and increased hair growth, suggesting CD271 is important for skin health.
March 2022 in “Clinical Cosmetic and Investigational Dermatology” CDKN2AIP gene is less active in nevus sebaceous, affecting related RNA networks.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
38 citations
,
February 1988 in “Molecular and Cellular Biology” Only one of the two K16 genes on chromosome 17 makes a functional protein for keratin filaments.