June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
109 citations
,
September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
7 citations
,
April 2012 in “Biomolecular concepts” Keratin is crucial for keeping skin cells healthy and its changes can lead to diseases and affect cell behavior.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
28 citations
,
June 1995 in “The Journal of Dermatology” The flaky skin mouse mutation is a natural model for studying human psoriasis.
7 citations
,
March 2024 in “Scientific Reports” The neighborhood face index (NFI) accurately predicts properties of complex molecules.
178 citations
,
May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
16 citations
,
August 2023 in “JAAD Case Reports” JAK inhibitors, like ruxolitinib, may effectively treat frontal fibrosing alopecia.
May 2018 in “The journal of immunology/The Journal of immunology” Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
April 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Gap junctions help control feather pattern formation by enabling cell communication.
September 2023 in “Journal of the American Academy of Dermatology” Topical tofacitinib helped a man with severe scalp condition after other treatments failed.
May 2017 in “The journal of immunology/The Journal of immunology” Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
134 citations
,
June 2012 in “International Journal of Oral and Maxillofacial Surgery” Facial feminization surgery is effective in helping transgender women appear more feminine and has high patient satisfaction.
32 citations
,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
5 citations
,
February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
54 citations
,
July 2017 in “Scientific Reports” JMJD3 and NF-κB activate Notch1, which is essential for skin cell movement and wound healing.
April 2019 in “Journal of Investigative Dermatology” Targeting immune pathways like JAK/STAT may help treat frontal fibrosing alopecia.
12 citations
,
January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
4 citations
,
April 2019 in “JAAD Case Reports” DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
2 citations
,
February 2025 in “Journal of the European Academy of Dermatology and Venereology” JAK inhibitors may effectively treat lichen planopilaris and frontal fibrosing alopecia with minimal side effects.
1 citations
,
January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” FLCN helps control iron levels in cells.
37 citations
,
June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
1 citations
,
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
November 2025 in “Clinical and Translational Medicine” DNAJB9 cfRNA could help diagnose and treat female hair loss.
8 citations
,
May 2024 in “PLoS Biology” Gap junctions help control feather pattern formation in chickens.
58 citations
,
November 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” The Foxn1 gene is essential for normal nail and hair development.
September 2018 in “Digital Access to Scholarship at Harvard (DASH) (Harvard University)” FN nanofiber dressings improve wound healing and restore natural skin structure.