7 citations
,
August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
July 2025 in “Journal of Investigative Dermatology” Reduced AhR signaling in HS tunnels leads to persistent inflammation and microbial imbalance.
June 2023 in “Research Square (Research Square)” A higher genetic risk score increases the chance of getting benign prostatic hyperplasia and affects treatment outcomes in Han Chinese men.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” Laminin-511 is involved in psoriasis development and can be regulated by cannabinoid receptor type 1.
8 citations
,
February 1994 in “Archives of Dermatology” Basaloid follicular hamartoma's appearance can be similar to other skin conditions, and diagnosis should consider both the look and behavior of the tumor.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
25 citations
,
November 2010 in “Journal of Molecular Structure” Raman micro-spectroscopy can help distinguish basal cell carcinoma from hair follicles in skin tissue.
475 citations
,
October 2006 in “Proceedings of the National Academy of Sciences” Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
2 citations
,
January 2016 in “Gynecological Endocrinology” A hidden autoimmune syndrome was found during a shock, showing thyroid, adrenal, and ovarian issues.
25 citations
,
September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
52 citations
,
May 2006 in “Journal of Structural Biology” Keratin-associated proteins help link filaments and affect keratin's strength.
December 2024 in “Annals of Medicine and Surgery” Early diagnosis of pseudopelade of Brocq in men is crucial to prevent permanent hair loss.
7 citations
,
July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
36 citations
,
November 2005 in “Forensic Science International” BioPlex-11 improves DNA profiling from telogen hair roots in forensic work.
42 citations
,
April 2009 in “Human Genetics” A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.
6 citations
,
January 2020 in “International Journal of Biological Sciences” Septin4 helps kill colon cancer cells by working with the protein BAX.
58 citations
,
February 2016 in “Scientific reports” Blocking BACE1 and BACE2 enzymes causes hair color loss in mice.
2 citations
,
April 1970 in “Archives of Dermatology” Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
40 citations
,
June 2013 in “Scientific Reports” A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
March 2024 in “medRxiv (Cold Spring Harbor Laboratory)” Recent selection on immune response genes was identified across seven ethnicities.
January 2021 in “Dermatology online journal” One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
January 2025 in “Archives of Dermatological Research” 13 citations
,
June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
1 citations
,
August 2021 in “Canadian journal of neurological sciences” Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
63 citations
,
May 2011 in “Clinical cancer research” The topical inhibitor CUR61414 was not effective in treating basal cell carcinoma in human trials.
CRPS I is complex, linked to immune and nerve issues, and needs comprehensive treatment.
58 citations
,
June 2018 in “Scientific reports” Researchers found 15 new genetic links to skin traits in Japanese women.
May 2013 in “Zhonghua miniao waike zazhi” Hair follicle stem cells work well with bladder matrix for bladder repair.