7 citations
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June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
9 citations
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February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
March 2021 in “Arrow - TU Dublin (Technological University Dublin)” The folate-cyclodextrin conjugate targets cancer cells more precisely, potentially reducing chemotherapy side effects.
5 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
76 citations
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September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
8 citations
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December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
7 citations
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April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.
3 citations
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June 2017 in “Reproductive biomedicine online” A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
23 citations
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June 2014 in “International Journal of Cosmetic Science” Glyoxylic acid is a safer alternative to formaldehyde for hair straightening and effectively changes hair structure.
The document's conclusion cannot be provided because the document is not available or cannot be read.
53 citations
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October 2003 in “Genetics” The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
1 citations
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May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The fer-ts mutation in plants prevents root hair growth at high temperatures.
CCC1 is essential for ion balance and proper plant cell function.
6 citations
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June 2012 in “PloS one” A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
1 citations
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September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
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.
13 citations
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June 2017 in “Biochimie open” All five human steroid 5α-reductase enzymes are found in the endoplasmic reticulum.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)”
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The structure of SRD5A reveals how it reduces steroids, aiding drug design for related health conditions.
1 citations
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September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
March 2024 in “Organic letters” A new method efficiently modifies alkenes to create useful medicinal compounds.
October 2002 in “Dermatologic Surgery” January 2004 in “Drug Development and Industrial Pharmacy” GI197111X is best dissolved in Capmul MCM for trials.
5 citations
,
July 2014 in “Acta Crystallographica Section D-biological Crystallography” Mutations in the enzyme don't significantly change how it binds to its specific substances.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
December 2023 in “International Journal of Dermatology”