6 citations
,
October 2014 in “Experimental Dermatology” Prostaglandins and the enzyme AKR1C3 could play a role in skin cancer and hair loss, and further research is needed to understand these mechanisms.
October 2022 in “Benha Journal of Applied Sciences” Human Beta Defensin 1 levels do not predict the risk or severity of Alopecia Areata.
September 2025 in “Genes & Diseases” Lgr6+ cells are important for tissue repair and could be a target for treating cancer and other diseases.
April 2023 in “Journal of Investigative Dermatology” Higher PD-1 levels are linked to fewer immune cells in hair follicles in alopecia areata.
June 2010 in “Seoul National University Open Repository (Seoul National University)” Reduced Vitamin D receptor expression may cause hair loss through the Wnt/b-catenin pathway.
33 citations
,
October 2006 in “European Journal of Immunology” The CD44-CD49d complex boosts T cell activation and survival in autoimmune disease.
1 citations
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November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
November 2025 in “Indian Journal of Dermatology” Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
122 citations
,
June 2002 in “Genes & Development” Keratin 17 is crucial for early hair strength and cell survival.
75 citations
,
July 2016 in “New phytologist” The protein RSL4 is crucial for making root hairs longer by controlling genes related to cell growth.
July 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Hair loss in certain mice is linked to changes in keratin-related genes.
1 citations
,
April 2010 in “Digital WPI” CLK1 is needed for skin cells to become epidermal cells but not sebocytes.
January 2019 in “DSpace@MIT (Massachusetts Institute of Technology)” Higher PHGDH levels cause unusual melanin buildup in hair follicles.
MLO proteins are crucial for root hair growth by regulating calcium and ROS levels.
10 citations
,
October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
July 2025 in “Journal of Investigative Dermatology” Nelfb is essential for dermal fat development and survival.
157 citations
,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
May 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” A potential treatment for atopic dermatitis could be to increase PADI1 expression to improve skin barrier function.
2 citations
,
June 2024 in “Frontiers in Plant Science” LLPS is crucial for RALF signaling, aiding plant growth and stress resilience.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
10 citations
,
September 2004 in “PubMed” Vitamin D receptor FokI gene variation is not linked to alopecia areata.
35 citations
,
April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
23 citations
,
March 2001 in “Clinics in dermatology” Alopecia areata involves immune response and gene changes affecting hair loss.
1 citations
,
November 2022 in “Research Square (Research Square)” A protein called HIF-1a helps control hair growth genes and could be targeted to treat hair loss.
7 citations
,
April 2013 in “Journal of Cellular Biochemistry” CD61 is important for mouse tooth cell growth and works through Lgr5.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
1 citations
,
April 2024 in “Animal Genetics” A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.