June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
January 1990 in “Advances in forensic haemogenetics” Human hair protein patterns are inherited genetically.
86 citations
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October 2005 in “Experimental Dermatology” The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.
86 citations
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June 1998 in “Journal of Investigative Dermatology” The hairless gene mutation causes baldness by disrupting hair follicle structure.
54 citations
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May 2001 in “Journal of Investigative Dermatology” Excessive putrescine causes hair loss in transgenic mice by disrupting hair follicle development.
28 citations
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October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
24 citations
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May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
23 citations
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March 2017 in “JAAD case reports” The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
15 citations
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February 2014 in “PloS one” LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
9 citations
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March 1998 in “Journal of Dermatological Science” Improper regulation of hair follicle processes causes hairlessness.
2 citations
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October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Lemur hair color and density vary by environment, supporting theories on primate hair evolution.
November 2025 in “BMC Genomics” Wrinkled skin in Xiang pigs is linked to gene changes related to oxidative stress and the extracellular matrix.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” T cells with memory features grow in number and gather around hair follicles when there are not enough immune cells.
April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
Women with PCOS have different body composition and some metabolic differences compared to healthy women.
April 2019 in “Journal of the Endocrine Society” Sex hormones may be linked to inflammation in Hidradenitis Suppurativa.
October 2018 in “InTech eBooks” The gene Foxn1 is important for hair growth, and understanding it may lead to new alopecia treatments.
April 2010 in “The journal of immunology/The Journal of immunology” FoxN1 gene is crucial for proper thymus structure and normal skin appearance.
October 2021 in “Journal of Investigative Dermatology” Poor blood supply in hair follicles is linked to nutrient deficiency in patients with female pattern hair loss, and adding more nutrients could potentially fix this.
2 citations
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January 2003 in “Dermatologic surgery” The 800-nm pulsed diode laser is a safe and effective long-term treatment for trichostasis spinulosa in dark-skinned individuals.
July 2025 in “Indian Journal of Forensic Medicine & Toxicology” DNA phenotyping can predict physical traits like eye, hair, and skin color, improving forensic investigations.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
April 2017 in “Journal of Investigative Dermatology” Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
June 2004 in “Annales de Dermatologie et de Vénéréologie”
767 citations
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September 2016 in “Human Reproduction” Polycystic ovary syndrome affects about 6-10% of women, with varying symptoms and the need for standardized global definitions.
162 citations
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January 2015 in “Trends in Endocrinology and Metabolism” Women with PCOS face higher risks of diabetes and heart disease, and these risks increase with obesity.
98 citations
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March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
89 citations
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April 2023 in “Forensic Science International Genetics” Forensic DNA Phenotyping can now better predict appearance, ancestry, and age from DNA, but more research is needed for precise police use.
75 citations
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September 2007 in “Journal of Heredity” FGF5 gene mutations cause long hair in domestic cats.