February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Prss53 affects hair shape and bone development in rabbits.
16 citations
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April 2007 in “Journal of Obstetrics and Gynaecology Research” Prostate-specific antigen may be a new marker for excess male hormones in women with polycystic ovary syndrome.
11 citations
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August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
66 citations
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February 2013 in “PeerJ” Activating cannabinoid receptor 1 reduces certain keratin levels, potentially aiding psoriasis treatment.
1 citations
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July 2022 in “BMJ Case Reports” A woman was wrongly diagnosed with lupus but actually had leprosy.
26 citations
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September 2009 in “Psychosomatics” A girl initially thought to have a psychiatric disorder was later found to have a lupus-related condition, which improved with proper treatment.
2 citations
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October 2024 in “Phenomics”
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
46 citations
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November 2007 in “Gene Expression Patterns” Trps1 plays a key role in hair follicle development and cycling.
Sphingosine 1-phosphate helps control mechanical pain.
February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
111 citations
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November 2007 in “Clinics in Dermatology” Psoriasis skin changes are complex and might need several biopsies for a clear diagnosis.
April 2025 in “Journal of Diabetes & Metabolic Disorders” Monitoring TGF-β and linc-PINT expression may help identify and treat high-risk heart arrhythmia patients.
June 2018 in “Journal of Dermatological Science” UV radiation may cause DNA changes in skin, certain UVB therapy helps psoriasis, a new gene mutation is linked to mild piebaldism, different immune cells affect psoriasis, a drug promotes hair growth, and some cancer drugs could treat skin barrier issues.
Blocking CXCR4 may help treat hidradenitis suppurativa.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
91 citations
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July 2004 in “Journal of Biological Chemistry” Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
9 citations
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June 2023 in “Human Genomics” MX1 and AR genes are linked to milder COVID-19, while TMPRSS2 increases severe risk, especially in women.
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.
June 2024 in “Archives of Dermatological Research” SFRP2 and PTGDS may be key factors in female hair loss.
48 citations
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June 2014 in “Neurobiology of Disease” The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
20 citations
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July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
49 citations
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September 2015 in “Psychoneuroendocrinology” 5α-reductase affects dopamine receptors linked to sensorimotor gating, which may help understand disorders like schizophrenia.
16 citations
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April 2016 in “Medicine” Early treatment and regular check-ups are crucial for lupus patients to prevent progression and improve outcomes.
491 citations
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July 2000 in “The Journal of Clinical Endocrinology and Metabolism” Polycystic ovary syndrome is found in 6.5% of unselected Caucasian women in Spain.
16 citations
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November 2024 in “Human Genetics and Genomics Advances” Nociplastic pain is a complex, heritable trait with genetic links to chronic and neuropathic pain.
2 citations
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April 2023 in “Journal of Psoriasis and Psoriatic Arthritis” Early diagnosis and treatment are crucial to prevent permanent hair loss from TNFα inhibitors in scalp psoriasis.
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
7 citations
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September 2003 in “Journal of Investigative Dermatology” PAR-1 may play a role in hair growth regulation in human hair follicles.