January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
43 citations
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May 1999 in “Journal of Biological Chemistry” Agouti protein affects melanocortin receptors through competitive antagonism and receptor down-regulation.
18 citations
,
June 2016 in “Clinical and Experimental Dermatology” Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
1 citations
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July 2018 in “Elsevier eBooks” FAPD and possibly CCCA may be AGA subtypes, and treatments combining antiandrogens, hair growth agents, hair transplants, and anti-inflammatories could be effective.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
May 2026 in “Journal of International Medical Research” Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.
18 citations
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August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
7 citations
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
October 2025 in “Journal of the Endocrine Society” Early physical exams are crucial for timely Klinefelter syndrome diagnosis.
11 citations
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January 2016 in “The Journal of Sexual Medicine” Young women with nonclassic congenital adrenal hyperplasia may experience worse sexual function and mild depression compared to healthy women.
7 citations
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May 1988 in “International Journal of Dermatology” The patient's hair has unique structural differences with alternating bright and dark bands.
April 2025 in “Egyptian journal of Immunology” Calprotectin levels are higher in alopecia areata patients, indicating systemic inflammation.
1 citations
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July 2012 in “Nasza Dermatologia Online” CCCA may be caused by both hair traction and an immune response.
1 citations
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December 2013 in “Balkan Journal of Medical Genetics” Cystic fibrosis can cause unusual symptoms like hair color changes, which can improve with proper treatment.
1 citations
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October 2024 in “Medicina” CLEC4D gene variants may increase the risk of alopecia areata in Jordanians.
8 citations
,
June 2012 in “PloS one” Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
1 citations
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August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
3 citations
,
March 2014 in “Journal of Industrial Microbiology & Biotechnology” Scientists found a new gene in a bacterium that can modify an immunosuppressant drug, potentially helping to treat hair loss.
8 citations
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October 2019 in “Immunological investigations” The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
Follicular atopic dermatitis in dark skin can look different, making diagnosis harder.
April 2025 in “Dermatology Practical & Conceptual” Increased LC3 gene expression may be linked to premature graying of hair.
April 2023 in “Dohuk medical journal” Trichoscopy effectively differentiates Androgenetic Alopecia from Telogen Effluvium.
7 citations
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December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
August 2024 in “Skin Research and Technology” TAF can be identified by excessive skin thickening and clogged hair follicles, helping distinguish it from similar skin conditions.
16 citations
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December 2015 in “Journal of Investigative Dermatology” Alopecia areata involves persistent gene abnormalities and immune activity, even in regrown hair, suggesting a risk of relapse.
2 citations
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April 2022 in “Genes” The study found that the hair loss condition in Cesky Fousek dogs is influenced by multiple genes affecting skin and muscle structure, fat metabolism, and immunity.
Early diagnosis and personalized treatment are crucial for managing pediatric androgenetic alopecia.