7 citations
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August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
January 2011 in “Linchuang pifuke zazhi” May 2025 in “BMC Genomics” Circ 0020938 slows down hair growth in cashmere goats.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
15 citations
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February 2020 in “Journal of Investigative Dermatology” Ceramide Synthase 4 is crucial for healthy skin barrier function.
33 citations
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August 2008 in “American Journal Of Pathology” Hedgehog signaling is essential for normal sebaceous gland development and affects keratin 6a expression.
April 2018 in “Journal of Investigative Dermatology” Ceramide synthase 4 is essential for maintaining skin barrier health.
84 citations
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June 1970 in “Journal of Investigative Dermatology” August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
15 citations
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December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
November 2025 in “FEBS Open Bio” JAK/STAT1 pathway causes hair loss during chemotherapy by reducing Shh in hair follicles.
1 citations
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August 2022 in “JAAD case reports” Tofacitinib and oral minoxidil may help treat Sisaipho alopecia areata.
1 citations
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March 2000 in “PubMed” A 16-year-old boy's alopecia areata progressed unusually to resemble male pattern baldness.
14 citations
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September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
2 citations
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March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
November 2014 in “International Society of Hair Restoration Surgery” 7 citations
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May 2021 in “Animal Genetics” The CORIN gene variant causes the golden color in Siberian cats.
112 citations
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January 2013 in “Experimental dermatology” Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
23 citations
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March 2017 in “Journal of Investigative Dermatology” An artificial lipid barrier can restore hair growth in cases of SCD1 deficiency.
8 citations
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April 2016 in “Experimental Dermatology” The type of tumor suppressor affects the form of skin cancer from hair follicle stem cells.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
1 citations
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September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
1 citations
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January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Dicer is crucial for hair growth in mice.
November 2023 in “Вопросы современной педиатрии” Genetic testing can diagnose hair loss linked to DSG4 gene variants.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
3 citations
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February 2022 in “Frontiers in cell and developmental biology” A specific RNA molecule, circCOL1A1, affects the growth and quality of goat hair by interacting with miR-149-5p and influencing cell growth pathways.
16 citations
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June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
64 citations
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August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
3 citations
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December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.