January 2026 in “Frontiers in Molecular Biosciences” A new method helps diagnose alopecia areata using specific gene markers and could guide targeted treatments.
1 citations
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October 2000 in “Journal of Investigative Dermatology” The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
37 citations
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February 2005 in “Journal of Investigative Dermatology” Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
1 citations
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September 2023 in “Clinical, cosmetic and investigational dermatology” Certain genetic variants linked to immune response increase the risk of alopecia areata in Taiwanese people.
12 citations
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March 2004 in “Journal of Investigative Dermatology” November 2022 in “Journal of Investigative Dermatology” Rare genetic variants in 125 genes are linked to male-pattern hair loss.
18 citations
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January 2021 in “Skin Research and Technology” High-frequency ultrasound effectively measures basal cell carcinoma depth.
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.
14 citations
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November 2015 in “Annals of the New York Academy of Sciences” Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
7 citations
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July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
31 citations
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May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
8 citations
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September 2023 in “Skin Research and Technology” High-frequency ultrasound improves diagnosis accuracy for most subcutaneous lesions.
January 2020 in “SSRN Electronic Journal” Different autoantibody groups in pediatric SLE are linked to specific symptoms and disease outcomes.
18 citations
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December 2006 in “Clinical dysmorphology” A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
50 citations
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February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
Defective protein folding due to a mutation is key in ANE syndrome.
February 2009 in “Journal of The American Academy of Dermatology” Certain immune system genes are linked to a higher risk of psoriasis and psoriatic arthritis, while others may offer protection.
10 citations
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September 2021 in “American Journal of Medical Genetics Part A” Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
July 2024 in “PLANT PHYSIOLOGY” CIPK13 and CIPK18 genes are crucial for root hair growth in plants.
April 2017 in “Journal of Investigative Dermatology” Sweat glands and hair follicles are determined by opposing signals, with BMPs promoting sweat glands and blocking BMPs leading to hair follicles.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
92 citations
,
February 2005 in “Journal of Investigative Dermatology”
November 2022 in “Journal of Investigative Dermatology” The research found specific genes that are more active in balding cells, which could be causing hair loss.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
9 citations
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May 2019 in “Medicine” The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
1 citations
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December 2020 in “International journal of molecular sciences” External factors can cause skin cancer cells that usually don't spread to grow and form tumors in mice.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
18 citations
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March 2004 in “The Journal of Urology” Hypospadiac rats showed abnormal genital development, useful for studying human hypospadias.
27 citations
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June 2013 in “Genes & development” Cav1.2 affects hair growth and could be a target for hair loss treatments.