47 citations
,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
44 citations
,
November 2009 in “Archives of Dermatology” CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
30 citations
,
January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
1 citations
,
August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
1 citations
,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
403 citations
,
December 2018 in “Cell stem cell” Understanding phenotypic plasticity is crucial for developing effective cancer therapies.
25 citations
,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
242 citations
,
February 2016 in “Science” Hair loss and aging are caused by the breakdown of a key protein in hair stem cells.
94 citations
,
April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
16 citations
,
October 2014 in “Cell death and disease” FoxN1 overexpression in young mice harms immune cell and skin development.
3 citations
,
May 2025 in “Cell Death and Disease” Targeting METTL1 may help slow papillary thyroid cancer growth and spread.
May 2026 in “Scientific Reports” Overexpression of LRIG3 in skin causes hair loss.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
November 2025 in “Cancer Management and Research” Targeting Keratin 17 may help overcome cancer therapy resistance.
4 citations
,
October 2021 in “Scientific Reports” NKIRAS2 can suppress certain skin tumors but its effect on cancer varies with context and expression level.
2 citations
,
December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” miR-29 is a key factor that accelerates aging.
May 2026 in “Research Square” The polyG fragment in Hoxc13 protein helps evolve mammalian skin and hair by enhancing gene interactions.
October 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” A protein called EGFR protects hair follicle stem cells, and when it's disrupted, hair follicles can be damaged, but blocking certain pathways can restore hair growth.
51 citations
,
March 2014 in “Nature Communications” Skin tumor regression is helped by retinoic acid signaling blocking Wnt signaling.
43 citations
,
August 2018 in “Cell Stem Cell” Hoxc genes control hair growth through Wnt signaling.
192 citations
,
March 2017 in “Cell host & microbe” Hair follicle development and microbes help regulatory T cells gather in newborn skin.
96 citations
,
October 2000 in “The FASEB Journal” The p75 neurotrophin receptor is important for hair follicle regression by controlling cell death.
27 citations
,
December 2013 in “Endocrinology” Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.
556 citations
,
September 2008 in “Genes & Development” Wnt signaling is vital for cell growth, development, and cancer research.
August 2017 in “Journal of epidemiological research” Cancer rates are increasing in developed countries, with estrogen, aging, low vitamin D3, and HPV infection as common causes.