July 2024 in “Journal of Investigative Dermatology” DS-2325a is safe and well-tolerated, supporting further development for Netherton Syndrome treatment.
7 citations
,
January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
27 citations
,
October 2011 in “British Journal of Dermatology” ESR2 gene variations may be linked to female pattern hair loss.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
21 citations
,
March 2014 in “Clinical and experimental dermatology” Targeting the Wnt pathway might help treat hair loss.
44 citations
,
October 2016 in “Epilepsia” 2-DG reduces seizures by enhancing brain inhibition through specific receptor activation.
9 citations
,
March 2012 in “Experimental dermatology” Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
September 1999 in “Molecular Carcinogenesis” Increased ODC expression makes normally tumor-resistant mice more prone to tumor development.
5 citations
,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
November 2023 in “Вопросы современной педиатрии” Genetic testing can diagnose hair loss linked to DSG4 gene variants.
1 citations
,
September 2010 in “UEF eRepo (University of Eastern Finland)” Androgen receptors help prostate cancer cells grow and resist drugs.
September 2023 in “International journal of biological macromolecules” The chitosan/PDRN polyplex improved wound healing in diabetic rats.
64 citations
,
March 2004 in “Journal of Clinical Investigation” Targeting ornithine decarboxylase can help prevent skin cancer.
October 2017 in “The Indian Journal of Animal Sciences” The prolactin gene polymorphism doesn't affect cashmere quality in these goats.
September 2017 in “Griffith Research Online (Griffith University, Queensland, Australia)” Blocking IL-17 can reduce joint inflammation in Ross River Virus infections.
June 2024 in “British Journal of Dermatology” A rare case of a transplant patient developing a skin condition linked to HPV-49.
March 2023 in “Scientific reports” Hair growth-related cells need the enzyme SCD1 to help maintain the area that supports hair growth.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
60 citations
,
March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
20 citations
,
April 2000 in “Experimental dermatology” ODC transgenic mice can model human hair loss with skin lesions.
8 citations
,
October 2019 in “Immunological investigations” The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
10 citations
,
January 2004 in “Journal of Investigative Dermatology” Krt6a-Cre transgenic mice help study gene effects on hair follicle development and tumor suppression.
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.
April 2017 in “Journal of Investigative Dermatology” Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
17 citations
,
June 2019 in “BMC genomics” Non-coding RNAs help control hair growth in cashmere goats.
January 2015 in “OpenBU/Boston University Institutional Repository (Boston University)” Neuropilin 2 may be a biomarker for melanoma and affects melanocyte behavior.
30 citations
,
November 2018 in “EMBO Reports” The Ovol2-Zeb1 circuit is crucial for skin healing and hair growth by guiding cell movement and growth.
6 citations
,
September 2023 in “Experimental physiology” A special receptor in sensory nerve endings helps control how they respond to stretching.
39 citations
,
January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.