12 citations
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January 2018 in “Journal of Clinical Laboratory Analysis” Certain IL-18 gene variations may increase the risk of alopecia areata.
September 2023 in “The Journal of clinical endocrinology and metabolism” Genetic risk for PCOS can affect children's growth, metabolism, and development from early life into adulthood.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
September 2023 in “Journal of the American Academy of Dermatology” Recognizing IPPP is crucial to prevent misdiagnosis and unnecessary treatments.
Alopecia universalis may be linked to Down syndrome due to genes on chromosome 21.
4 citations
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January 2011 in “Dermatology” A patient grew extra hair on their ears after treatment for testicular cancer, possibly due to hormonal changes or genetics.
19 citations
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January 2015 in “Development” Hoxc8 gene helps start mammary gland development by controlling specific signals.
2 citations
,
July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.
4 citations
,
August 2017 in “Journal of cutaneous pathology” An 8-year-old girl had a rare, benign skin tumor on her forehead.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
2 citations
,
February 2025 Merkel cell polyomavirus can infect and persist in skin cells, evading the immune system, but certain treatments can control it.
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.
7 citations
,
April 2000 in “Archives of Pathology & Laboratory Medicine”
September 2016 in “Journal of Dermatological Science” A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
1 citations
,
November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
39 citations
,
December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
April 2016 in “Journal of The American Academy of Dermatology” People with Down syndrome are more likely to experience hair loss, and using dermoscopy can help diagnose it.
62 citations
,
October 2018 in “Journal of pathology” Keratin 17 is linked to various diseases, including cancer and skin conditions, and may be a target for diagnosis and treatment.
June 2001 in “European Journal of Dermatology” A 54-year-old woman experienced progressive hair loss starting in adolescence, leading to sparse scalp hair and almost no eyebrows or eyelashes.
December 2014 in “Tesis Doctorals en Xarxa (Consorci de Serveis Universitaris de Catalunya)” Reducing SOX2 in colorectal cancer cells decreases tumor growth and self-renewal.
188 citations
,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
1 citations
,
August 2025 in “Journal of Human Immunity” Minoxidil helps restore thymus size in 22q11.2 deletion syndrome.
3 citations
,
December 2013 in “American Journal of Dermatopathology” A rare skin growth in a baby was successfully removed without coming back.
5 citations
,
April 2024 in “Journal of Ovarian Research” miR-21 helps improve ovarian function recovery in treated mice.
11 citations
,
January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
November 2025 in “Indian Journal of Dermatology” Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
2 citations
,
October 2012 in “Experimental Dermatology” Deleting the Sox21 gene changes hair lipid composition and increases cholesterol sulfate levels.
55 citations
,
April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
13 citations
,
October 2024 in “Scientific Reports” Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.
158 citations
,
February 2012 in “Journal of Investigative Dermatology” FGF18 helps keep hair in its resting phase, affecting hair growth cycles.