April 2023 in “Journal of Investigative Dermatology” The research updated the skin cell profile, finding new skin cell markers and showing fibroblasts' key role in skin health.
103 citations
,
March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
19 citations
,
August 2020 in “Gastroenterology report” There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
96 citations
,
July 2014 in “Cold Spring Harbor Perspectives in Medicine” The document concludes that adult mammalian skin contains multiple stem cell populations with specific markers, important for understanding skin regeneration and related conditions.
50 citations
,
September 2023 in “Biomarker Research” S100A6 is important for cell functions and can help diagnose and treat diseases.
November 2022 in “Gigascience” A specific genetic deletion in goats affects cashmere yield and thickness.
1 citations
,
November 2002 in “Journal of dermatology” The antibody created from BCC tissues reacts similarly to both BCC and hair follicles, suggesting BCC may come from hair follicle cells.
November 2017 in “International journal of research in dermatology” A rare skin disorder, nevus comedonicus, can appear on one side of the body following Blaschko's lines.
March 2026 in “World Rabbit Science” DKK4 can be used to improve wool quality in Zhexi Angora rabbits.
17 citations
,
November 2017 in “PLoS ONE” Transplanted bone marrow cells actively move, form clusters, and grow after transplantation.
3 citations
,
January 2017 in “Dermatology online journal” Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
April 2010 in “Cancer Research” Mcl-1 can activate Wnt signaling in skin cells, promoting growth and possibly cancer.
117 citations
,
September 2003 in “Molecular & cellular proteomics” The technology can help diagnose and subtype autoimmune diseases by identifying specific autoantibodies.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
25 citations
,
April 2019 in “Animals” KRTAP28-1 gene can help breed sheep with finer wool.
79 citations
,
March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
3 citations
,
August 2021 in “Research Square (Research Square)” The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
12 citations
,
July 2015 in “Tissue Antigens” The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
10 citations
,
August 2023 in “Animals” SLC45A2 and GPNMB genes help control chicken feather color by promoting melanin.
30 citations
,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
21 citations
,
January 2018 in “Anticancer Research” NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
1 citations
,
September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
July 2025 in “Journal of Investigative Dermatology” Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.
April 2020 in “Journal of the Endocrine Society” A patient with untreated congenital adrenal hyperplasia had large benign tumors in her adrenal glands removed, improving her symptoms.
April 2017 in “Journal of Investigative Dermatology” PRC1 influences skin stem cell development by both turning genes on and off, affecting hair growth and skin cell types.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
17 citations
,
January 2015 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
30 citations
,
December 1996 in “Journal of Investigative Dermatology” 41 citations
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July 2016 in “Journal of Investigative Dermatology” Dysplastic nevi have unique gene expressions, making them distinct from common melanocytic nevi.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.