5 citations
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May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
July 2017 in “OPAL (Open@LaTrobe) (La Trobe University)” High-throughput LC-MS screening is effective for finding new autotaxin inhibitors for asthma treatment.
45 citations
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March 1997 in “Journal of Investigative Dermatology” July 2025 in “Journal of Investigative Dermatology” CCC1 is crucial for pH balance in plant cells, affecting growth and stress tolerance.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
March 2026 in “Sexual Development” Tortoiseshell tomcats with XX/XY chimerism can be fertile.
July 1995 in “Journal of Dermatological Science” 24 citations
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December 2013 in “Archives of Dermatological Research”
41 citations
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December 2015 in “JAMA Dermatology” Tofacitinib citrate improved nail dystrophy and pain in patients with alopecia universalis without causing side effects.
14 citations
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
IL-18 signaling helps mature Tregs move into the thymus.
1 citations
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August 2023 in “Journal of Investigative Dermatology” Farudodstat may help treat alopecia areata by protecting hair follicles.
January 2016 in “Texas ScholarWorks (Texas Digital Library)” DORN1 receptor affects eATP-induced stomatal changes but not eADP in Arabidopsis thaliana.
March 2026 in “Journal of Investigative Dermatology” The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
February 2026 in “Indian Journal of Dermatology” Upadacitinib may effectively treat twenty-nail dystrophy without causing pain.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
8 citations
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January 2017 in “Dermatology online journal” Tofacitinib helped psoriasis but not alopecia universalis, needing more research.
April 2012 in “Informa Healthcare eBooks” Temporal triangular alopecia is a lifelong condition with hairless patches on the side of the head that may be present from birth.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
4 citations
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January 2001 in “Archives of Biochemistry and Biophysics” Activated ras can protect kidney cells from a certain substance that causes cell death.
January 2025 in “Journal of Crohn s and Colitis” Tofacitinib is effective and safe for elderly patients with ulcerative colitis.
56 citations
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March 2010 in “Journal of Dermatology” Most cases of Temporal Triangular Alopecia are found in early childhood and may be related to genetic conditions.
Tofacitinib significantly improved hair loss and lesions in a patient with overlapping autoimmune disorders.
49 citations
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March 2017 in “Journal of the American Academy of Dermatology” Tofacitinib caused significant hair regrowth in adolescents with alopecia universalis who didn't respond to other treatments.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
47 citations
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April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.