62 citations
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October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
30 citations
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June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
January 2026 in “Molecules” A new perming method is less damaging to hair and works as well as traditional methods.
8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
14 citations
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May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
April 2019 in “Journal of Investigative Dermatology” Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
December 2023 in “Sains Malaysiana” The enzyme Rand protease works well for leather dehairing and its stability is important, with Leu75 playing a key role.
2 citations
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
35 citations
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August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
10 citations
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September 2022 in “Journal of Composites Science” Cricket nanochitin is denser and stronger than crab nanochitin.
21 citations
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April 2008 in “Toxicologic Pathology” CI-1033 causes skin lesions in rats, similar to humans, due to EGF receptor inhibition.
18 citations
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April 2001 in “Bioorganic & Medicinal Chemistry Letters” The nature of the side chain in RU 58841 derivatives greatly affects its AR affinity, with the N-(iodopropenyl) derivative 13 showing the highest AR binding affinity, suggesting its potential for developing high-affinity radioiodinated AR radioligands.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
30 citations
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June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
5 citations
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January 2024 in “Crystals” The salts have diverse molecular packing with significant hydrogen interactions.
December 2022 in “Ecological Chemistry and Engineering S” A new compound was made to detect copper ions effectively.
53 citations
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January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
10 citations
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April 2020 in “Clinics in Dermatology” Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
2 citations
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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.
11 citations
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January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
8 citations
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January 2021 in “Journal of Pharmaceutical Investigation”
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.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” 6 citations
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July 2021 in “Frontiers in Genetics” A gene variant causes a skin and hair disorder by disrupting protein balance.
13 citations
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August 2007 in “Bioorganic & medicinal chemistry letters” A new compound effectively inhibits human 5α-reductase 1.
April 1996 in “Journal of Dermatological Science” 12 citations
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July 2017 in “International Journal of Cosmetic Science” N‐AOHPA is a promising alternative to traditional surfactants for better hair conditioning.
June 2025 in “British Journal of Dermatology” Consider amyloidosis in patients with specific nail changes and check for systemic issues.