40 citations
,
November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
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.
9 citations
,
May 2002 in “PubMed” Retinoic acid affects skin and hair health by working with specific receptors, and its absence can lead to hair loss and skin changes.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
2 citations
,
June 2023 in “PeerJ” Chronic inflammation can cause cancer by making stem cells divide and mutate.
1 citations
,
October 2025 in “International Journal of Molecular Sciences” Natural compounds may help treat advanced papillary thyroid cancer by targeting specific molecular pathways.
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.
July 2023 in “Journal of Biomedical Science” Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
72 citations
,
November 2017 in “Journal of developmental biology” The Hedgehog signaling pathway is important for skin and hair growth and can lead to cancer if it doesn't work right.
17 citations
,
July 2024 in “Frontiers in Oncology” New therapies and trials are needed for Merkel cell carcinoma, a tough skin cancer.
15 citations
,
July 2024 in “Current Issues in Molecular Biology” Understanding molecular processes in skin development is key to creating targeted treatments for skin disorders.
1 citations
,
April 2025 in “Clinical Cosmetic and Investigational Dermatology” A rare skin lesion in a 64-year-old woman was successfully treated with a laser, showing minimal redness and no return after one month.
1 citations
,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
March 2026 in “Preprints.org” The combined stem cell secretome in the skin care product effectively reduces inflammation and promotes tissue regeneration.
August 2025 in “Dermatopathology” Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
January 2026 in “International Journal of Molecular Sciences” Hedgehog pathway inhibitors could be effective in treating melanoma.
4 citations
,
January 2019 in “Indian Dermatology Online Journal” The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
83 citations
,
January 2023 in “Development” Hox genes are crucial for development and tissue maintenance, affecting structures and functions throughout life.
21 citations
,
September 2010 in “Cancer Prevention Research” Overactive signaling in hair follicles can lead to skin cancer.
15 citations
,
April 2017 in “Hormones” Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
13 citations
,
June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
9 citations
,
November 2020 in “The FASEB journal” Intermediate filaments are crucial for cell differentiation and stem cell function.
7 citations
,
January 2025 in “Journal of Experimental & Clinical Cancer Research” PRMT5 inhibitors effectively fight adenoid cystic carcinoma in salivary glands.
3 citations
,
September 2023 in “Skin research and technology” New treatments for skin damage from UV light using stem cells and their secretions show promise for skin repair without major risks.
Loss of Dnmt3a and Dnmt3b leads to more aggressive skin tumors, but blocking PPAR-γ can reduce this effect.
Loss of Dnmt3a and Dnmt3b increases aggressive skin tumors by affecting PPAR-γ.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
April 2023 in “Dentistry” Baby teeth stem cells can potentially grow organs and treat diseases.
9 citations
,
October 2008 in “Mutation research” N-acetyl-L-cysteine (NAC) can prevent DNA damage and protect cells from harm.