124 citations
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November 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” PAD3 plays a key role in hair and skin protein structure and may be linked to skin diseases.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
11 citations
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August 2014 in “PLoS ONE” GFRα2 is essential for controlling neuron size but not for target innervation in certain sensory neurons.
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
Finasteride may help reduce COVID-19 infection by altering a key gene.
3 citations
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April 2022 in “Frontiers in Physiology” Ptch2 plays a key role in controlling stem cell function and the ability to regenerate after birth.
12 citations
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January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
87 citations
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January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
3 citations
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December 2014 in “Annals of Laboratory Medicine” A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
October 2017 in “Journal of Investigative Dermatology” Pemphigus vulgaris involves specific immune cells and B cells that produce antibodies causing skin blisters.
8 citations
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July 2018 in “European Journal of Dermatology” A medication may help with hair growth in psoriasis, and a skin condition might be linked to a specific bacteria.
February 1990 in “Pathology, research and practice” PCS rats show significant inner ear damage and zinc deficiency, similar to liver cirrhosis patients.
December 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Papulopustular rosacea is an inflammatory skin condition treatable with lifestyle changes and medications.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
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.
166 citations
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September 2011 in “The Journal of Cell Biology” p63 controls Satb1 to help skin develop properly.
January 2025 in “Frontiers in Immunology” IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
14 citations
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April 2016 in “PloS one” The KRTAP11-1 gene promoter is crucial for specific expression in sheep wool cortex.
38 citations
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January 2020 in “Cell Transplantation” Targeting ACE2 and TMPRSS2 may help prevent or treat COVID-19 in cancer patients.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
May 2025 in “Galen Medical Journal” New targeted therapies for psoriasis show promise but face challenges like side effects and treatment resistance.
5 citations
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December 2002 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Skin cells might help spread prion diseases like Creutzfeldt-Jakob disease.
December 2021 in “Figshare” BBS7 is crucial for maintaining healthy gums through Shh signaling.
January 2013 in “Frontiers in Immunology” Parental uveitis increases offspring's risk and severity of autoimmune eye disease.
December 2021 in “Figshare” BBS7 is essential for healthy gums and teeth by supporting cell function and blood flow.
5 citations
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April 1984 in “Archives of Dermatology” Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
1 citations
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April 2008 in “Pigment Cell & Melanoma Research” Foxn1 is essential for hair pigmentation by directing pigment transfer to hair cells.
92 citations
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April 2009 in “Journal of Investigative Dermatology” The Celsr1 gene is crucial for normal hair patterning in mice.