13 citations
,
September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
April 2019 in “Journal of the Endocrine Society” A 12-year-old boy with PAIS successfully developed male characteristics using high-dose testosterone and anastrozole.
39 citations
,
January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
14 citations
,
August 2021 in “Molecular Genetics and Metabolism Reports” Pegvaliase effectively reduces blood phenylalanine levels in most PKU patients, but requires personalized plans and good communication to manage side effects.
May 2026 in “BMC Medicine” ACOD1 deficiency worsens hair loss by causing cell aging and mitochondrial problems, but 4-OI may help.
February 2025 in “Intisari Sains Medis” PDRN from salmon may slow skin aging by improving skin quality and reducing inflammation.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
CAG repeat numbers in the AR gene likely don't affect male pattern baldness in Korean men.
7 citations
,
January 2025 in “Journal of Experimental & Clinical Cancer Research” PRMT5 inhibitors effectively fight adenoid cystic carcinoma in salivary glands.
14 citations
,
March 2022 in “Journal of Biomedical Science” Cyanidin 3-O-arabinoside may help treat a common form of hair loss by protecting cells against aging and improving cell function.
27 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
1 citations
,
October 2024 in “Medicina” CLEC4D gene variants may increase the risk of alopecia areata in Jordanians.
4 citations
,
May 2020 in “Cureus” A new genetic mutation causing Werner's syndrome was found in an Indian man.
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
June 2026 in “Reproductive Biology”
19 citations
,
November 2021 in “Lupus Science & Medicine” Black patients with discoid lupus erythematosus have more severe skin damage and higher chances of dyspigmentation, scalp, and ear involvement.
13 citations
,
May 2022 in “Cell discovery” The study found new details about human hair growth and suggests that preventing a specific biological pathway could potentially treat hair graying.
3 citations
,
May 2023 in “Precision clinical medicine” Researchers found four genes that could help diagnose severe alopecia areata early.
2 citations
,
April 2022 in “Clinical, cosmetic and investigational dermatology” A new plant-based treatment was effective for hair regrowth in women with a specific type of hair loss that didn't respond to usual treatments.
1 citations
,
December 2024 in “Revista Eletrônica Acervo Saúde” Black skin has unique features and conditions, needing tailored dermatological care.
1 citations
,
March 2021 in “Journal of Dermatology Research and Therapy” Women with cicatricial hair loss may have a higher risk of hypertension.
March 2026 in “Frontiers in Medicine” Different types of alopecia cause hair loss due to immune system issues, with some allowing regrowth and others causing permanent loss.
Ca²⁺-mediated protein citrullination controls cell growth in the CNS and may help treat brain tumors.
September 2024 in “South Eastern European Journal of Public Health” Alopecia areata patients have higher IgE and IL-13 levels, suggesting immune involvement.
February 2024 in “International journal of medical science and clinical research studies” CCCA is a scarring hair disorder mainly affecting people of African descent, needing better awareness and treatment.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” AP-2α and AP-2β proteins are essential for healthy adult skin and hair.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
29 citations
,
October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.