September 2019 in “Journal of Investigative Dermatology” Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
71 citations
,
November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Edar signaling is crucial for proper hair follicle development and function.
June 2023 in “British Journal of Dermatology” The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
March 2025 in “FEBS Journal” Epiprofin suppresses parathyroid hormone gene activity, helping regulate calcium levels and could be a treatment target for hyperparathyroidism.
January 2026 in “BIO Web of Conferences” FGFs have evolved differently across species, affecting skin functions and wound healing.
6 citations
,
January 2014 in “Genetics and Molecular Research” The method successfully created stable transfection donor cells for goat hair follicle research.
1 citations
,
June 2019 in “Current developments in nutrition” A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
39 citations
,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
2 citations
,
May 2022 in “Research Square (Research Square)” KGF-1 135 is a stable and effective alternative for treating oral mucositis.
8 citations
,
August 1987 in “The Journal of Dermatology” BKN-1 antibody targets specific keratin in basal cell epithelioma and normal skin basal cells.
43 citations
,
January 2016 in “Development” LHX2 is essential for hair follicle development, controlled by NF-κB and TGFβ2 signaling.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
94 citations
,
July 2003 in “Journal of biological chemistry/The Journal of biological chemistry” EGF controls hair growth by regulating hair follicles' growth phases.
3 citations
,
August 2017 in “Clinical case reports” A rare skin condition causes red and dark patches on the face and limbs.
18 citations
,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
November 2024 in “NeoReviews” An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
15 citations
,
November 2009 in “Journal of Comparative Pathology” Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
28 citations
,
November 2019 in “Gene” The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
9 citations
,
August 2021 in “Biomedicines” 17β-estradiol boosts APE1/Ref-1 secretion in cells and mice via a calcium-dependent pathway.
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.
3 citations
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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.
January 2013 in “edoc (University of Basel)” TRF1 is crucial for creating and maintaining stem cells and marks both pluripotent and adult stem cells.
1 citations
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November 2001 in “Acc Current Journal Review” Electron Beam Tomography (EBT) is a useful additional test to stress testing for detecting heart disease.
115 citations
,
March 2019 in “Nature Communications” Frontal fibrosing alopecia is linked to four genetic areas, especially the HLA-B*07:02 allele.
March 2026 in “Folia Histochemica et Cytobiologica” LTBP1 is a key regulator in diseases and a potential target for new treatments.
39 citations
,
March 2008 in “Journal of biological chemistry/The Journal of biological chemistry” GLI2 increases follistatin production in human skin cells.
252 citations
,
March 1998 in “Developmental dynamics” FGFs-4, -8, and -9 have overlapping roles and are repeatedly used in tooth development.
249 citations
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May 2003 in “Developmental Biology” Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.