7 citations
,
July 2006 in “Journal of cutaneous pathology” A 21-year-old had a rare developmental anomaly with a misplaced sebaceous gland in a hair follicle.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Researchers found key regions in the mouse hairless gene that control its activity in skin and brain cells, affecting hair follicle function.
36 citations
,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
10 citations
,
April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
13 citations
,
February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
July 2002 in “Science Signaling” Modified β-catenin can cause different effects in mouse skin cells, leading to cysts or tumors depending on the cell type.
14 citations
,
February 2022 in “The Journal of clinical investigation/The journal of clinical investigation” Scientists made a mouse model of a serious skin cancer by changing skin cells with a virus and a specific gene, which is similar to the disease in humans.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
5 citations
,
August 2023 in “G3 Genes Genomes Genetics” The improved genome of the African spiny mouse will help understand its tissue regeneration abilities.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
11 citations
,
June 1994 in “Journal of Investigative Dermatology”
September 2016 in “Journal of dermatological science” Transplanted whisker follicles caused hair growth on the spine of mice.
11 citations
,
December 2018 in “Bone” Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.
60 citations
,
July 2020 in “ACS Nano” Using CRISPR for gene editing in the body is promising but needs better delivery methods to be more efficient and specific.
8 citations
,
May 1941 in “Science” Mouse embryos can develop in chick embryos, but they grow smaller with some organ issues.
July 2016 in “Cancer research” Mutant cells in hair follicles are influenced by their location and interactions with surrounding cells.
June 2024 in “British Journal of Dermatology” A rare case of a transplant patient developing a skin condition linked to HPV-49.
2 citations
,
August 2013 in “Journal of Investigative Dermatology” Nuclear shape and chromatin changes affect gene expression in skin cell differentiation.
October 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Stem cell niche exit in C. elegans is influenced by Sh1 cell membrane protrusions.
20 citations
,
October 2005 in “Archives of Dermatological Research”
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
5 citations
,
March 1981 in “PubMed” A girl grew extra hair in areas where she had insect bites.
2 citations
,
September 1998 in “Der Hautarzt” A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
1 citations
,
August 2024 in “Pediatric Dermatology” A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
7 citations
,
May 2021 in “EBioMedicine” Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
6 citations
,
February 2009 in “Journal of Investigative Dermatology” 50 citations
,
June 1993 in “European journal of biochemistry” Intermediate filaments are crucial for cell structure and function, regulated by specific genes and proteins.
10 citations
,
September 1997 in “Molecular carcinogenesis” Mirex seems to promote a unique group of skin cells different from those affected by another tumor promoter, TPA.