62 citations
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March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
August 2012 in “Nature Cell Biology” A pathway helps maintain long telomeres in both stem and cancer cells.
27 citations
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June 1989 in “Journal of Medical Genetics” Hairy elbows may be linked to short stature, but the exact cause is unclear.
April 2024 in “Cellular signalling” Activating TRPMLs helps human cells important for hair growth and increases hair growth in mice.
12 citations
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November 2014 in “Journal of Cutaneous Medicine and Surgery” Antiviral medication valganciclovir may improve skin and hair in Trichodysplasia Spinulosa patients.
48 citations
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May 2019 in “Genome Biology” Researchers found that certain RNA circles in the brain are linked to disease risk, but their exact role in disease is still unknown.
9 citations
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January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
December 2025 in “TURKDERM” Facial trichostasis spinulosa is a chronic condition with significant cosmetic impact, especially in young women.
April 1996 in “Journal of Dermatological Science” May 2025 in “Indian Dermatology Online Journal” Trichoscopy is crucial for diagnosing rare genetic hair disorders.
26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
November 2023 in “Advanced Science” A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.
Trichoepithelioma and desmoplastic trichoepithelioma have distinct features that can be identified using reflectance confocal microscopy.
February 1989 in “PubMed” A genetic hair protein variant is more common in Japanese people and is inherited.
18 citations
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February 2001 in “Der Hautarzt” A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
88 citations
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August 2019 in “Nature communications” Researchers found a specific immune receptor in patients that causes severe skin reactions to a drug.
January 2006 in “Journal of Rural Medicine” Trichotillomania is more common than previously thought, with increasing diagnosed cases.
August 2020 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
2 citations
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May 1979 in “PubMed” Monilethrix is not caused by a metabolic defect.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
The man has Temporal Triangular Alopecia, a stable, non-scarring hair loss condition best treated with hair transplantation.
54 citations
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January 1984 in “Molecular and Cellular Biochemistry” 152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
6 citations
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January 2018 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” An 8-year-old girl with Rapunzel syndrome had a hairball removed from her stomach and intestines and recovered well after surgery.
3 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
26 citations
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December 1990 in “Journal of Biological Chemistry” Two specific genes are more active during hair growth in mice.
January 2022 in “Clinical Cases in Dermatology” A 4-year-old boy has a rare type of hair loss in a line pattern on his scalp.
3 citations
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October 2025 in “Cancer” PROTACs offer a new, precise way to treat cancer by breaking down harmful proteins.
34 citations
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January 2000 in “Journal of Andrology” CAG repeat polymorphism and prostate zone volume are not reliable markers of long-term androgen sensitivity.
April 2016 in “Journal of Investigative Dermatology” Double-stranded RNA activates a pathway that causes a skin protein to be expressed in the wrong place.