11 citations
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June 2019 in “Tissue & Cell” Hair stem cells produce a protein called COL17A1 that plays a key role in their development and is linked to hair thinning and baldness.
April 2025 in “Molecular Biology Reports” DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
January 2023 in “European journal of gynaecological oncology” KRT17 may be a new target for endometrial cancer treatment because it helps cancer cells move and form new blood vessels.
April 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain surgical methods are better than routine incision for hidradenitis suppurativa, topical clindamycin and acitretin are effective treatments, men with HS have a risk of skin cancer, HS patients are more likely to die from heart problems, and specific genetic markers are linked to treatment response.
June 2019 in “International journal of dermatology and venereology” The Hedgehog Signaling Pathway is important for skin and hair development and skin cancer treatment, but more research is needed to understand it fully.
January 2026 in “Zenodo (CERN European Organization for Nuclear Research)” Hidradenitis suppurativa is a chronic skin disorder linked to genetics, lifestyle, and immune issues, treatable with medications and surgery.
Shh and Dhh affect skin development and can cause tumors, while Ihh does not.
6 citations
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March 1996 in “Journal of Investigative Dermatology”
April 2023 in “Journal of Investigative Dermatology” LSD1 is essential for healthy skin development and creating the skin's protective barrier.
3 citations
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March 2016 in “Experimental Dermatology” A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
June 2026 in “Quality in Sport” CAH requires a multidisciplinary approach, and while current treatments help, future therapies show promise.
May 2024 in “Asian Journal of Medicine and Health” Sickle cell disease affects BMI and pain frequency, with HbSS patients having more pain and unhealthy BMI.
A new genetic mutation was found causing hair and eye issues in a boy.
June 2026 in “Frontiers in Cell and Developmental Biology” LHX2 is crucial for development, tissue repair, and preventing diseases.
1 citations
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November 2024 in “European Journal of Endocrinology” Higher childhood DHEAS levels are linked to advanced puberty and DNA changes.
2 citations
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September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
4 citations
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January 2022 in “Australasian Journal of Dermatology” Higher HDAC1 levels in alopecia areata suggest HDAC inhibitors might help treat it and acne.
July 2025 in “Journal of Investigative Dermatology” Reduced AhR signaling in HS tunnels leads to persistent inflammation and microbial imbalance.
7 citations
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February 2012 in “Journal of cutaneous pathology” The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
Adalimumab significantly improved Hidradenitis Suppurativa and quality of life in two patients.
4 citations
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December 2022 in “Advanced science” SCD1 is important for hair growth by keeping the connection in skin cells where hair stem cells live stable.
7 citations
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January 2002 in “Biological Trace Element Research” Children with pituitary dwarfism have higher zinc and copper, lower manganese, and similar iron levels in hair compared to normal children.
January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
66 citations
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March 2018 in “British journal of dermatology/British journal of dermatology, Supplement” An imbalance between certain immune cells is linked to a chronic skin condition and may be influenced by obesity, smoking, and autoimmune issues.
October 2020 in “Journal of the American Society of Nephrology” Drospirenone can hide symptoms of certain hormonal disorders, complicating diagnosis.
1 citations
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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.
1 citations
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January 2024 in “Pediatric Endocrinology Diabetes and Metabolism” Cinacalcet may help treat hereditary vitamin D resistant rickets safely.