44 citations
,
September 2016 in “American Journal Of Pathology” Neural crest-derived progenitor cells in the cornea could help treat corneal issues without transplants.
5 citations
,
January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Double stranded RNA helps skin wounds heal by coordinating specific proteins and signaling pathways.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
3 citations
,
June 2002 in “PubMed” Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
71 citations
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June 2005 in “Journal of Investigative Dermatology” PAD enzymes play a key role in hair growth and structure.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
6 citations
,
January 2015 in “Indian Dermatology Online Journal” PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
17 citations
,
June 2019 in “BMC genomics” Non-coding RNAs help control hair growth in cashmere goats.
The enzyme Dgat1 is essential for healthy hair and skin by controlling retinoid levels.
December 2023 in “Animals” The research found genes and miRNAs that may control hair growth in Forest Musk Deer.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
13 citations
,
February 2025 in “Nature Communications” A new neural network helps identify key regulators in cell changes, aiding in understanding diseases and finding new treatments.
91 citations
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November 2008 in “Journal of biological chemistry/The Journal of biological chemistry” DGAT1 enzyme is crucial for healthy skin and hair by regulating retinoid levels.
16 citations
,
November 2018 in “The journal of pain/Journal of pain” 14,15-EET may help reduce poststroke pain by affecting certain brain proteins.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
1 citations
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February 2013 in “InTech eBooks” LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
September 2007 in “Journal of Investigative Dermatology” ANp63 is crucial for skin integrity, new filaggrin gene mutations link to eczema, hair can regrow from non-stem cells, sunburns are increasing, and glucocorticoids help treat skin allergies by affecting immune cells.
October 2022 in “BMC genomics” RNA editing significantly affects hair growth and follicle cycling in the Tianzhu white yak.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
1 citations
,
November 2003 in “SKINmed Dermatology for the Clinician” A 17-year-old with Netherton syndrome has dry, itchy skin, brittle hair, and high IgE levels, treated with antihistamines and emollients.
10 citations
,
April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
21 citations
,
November 2017 in “Livestock science” Nellore cattle have genetic variations linked to their adaptation to tropical environments.
6 citations
,
January 2010 in “Journal of Biochemical and Molecular Toxicology” The ID2 gene can help distinguish between sensitizers and irritants in skin cells.
5 citations
,
March 2019 in “Journal of lipid research” New probes were created to effectively measure specific enzymes involved in fat metabolism, which could help develop new drugs.
14 citations
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May 2021 in “Marine Drugs” PDRN, derived from salmon sperm, shows promise in healing wounds, reducing inflammation, and regenerating tissues, but more research is needed to understand its mechanisms and improve its use.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” May 2026 in “Zenodo (CERN European Organization for Nuclear Research)”