April 2019 in “Journal of Investigative Dermatology” Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
3 citations
,
June 2018 in “Internal Medicine” Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.
April 2019 in “Journal of Investigative Dermatology” BRG1 is essential for skin cells to move and heal wounds properly.
36 citations
,
September 1999 in “Journal of Cell Science” Basonuclin may help control ribosomal RNA gene activity in skin cells.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
7 citations
,
March 2022 in “The FASEB journal” Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
25 citations
,
August 2010 in “Journal of Biological Chemistry” Nuclear Factor I-C is important for controlling hair growth by affecting the TGF-β1 pathway.
100 citations
,
May 2003 in “Journal of Neuroscience” Neuroactive steroids affect cocaine's rewarding effects through the ς1 receptor.
16 citations
,
September 2020 in “Animals” circRNA-1926 helps goat stem cells turn into hair follicles by affecting miR-148a/b-3p and CDK19.
July 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” The Arabidopsis rhd2 mutant is more sensitive to drought because of changes in cell membrane proteins and cell structure.
September 2022 in “Research Square (Research Square)” Increasing Rps14 helps grow more inner ear cells and repair hearing cells in baby mice.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” MEF2C is crucial for normal hair cycle progression.
1 citations
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September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
29 citations
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February 2001 in “Proceedings of the National Academy of Sciences” A specific DNA region controls skin cell gene expression by working with certain proteins.
72 citations
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January 2003 in “American Journal of Pathology” A protein called CBP is found in prostate cancer and can increase the effectiveness of certain prostate cancer treatments.
November 2025 in “PubMed” Genetic variants in specific genes cause a type of hair loss.
24 citations
,
February 2011 in “The American journal of pathology” AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
November 2025 in “Journal of Investigative Dermatology” TEDAR is crucial for skin cell differentiation and barrier formation.
10 citations
,
February 2021 in “PLoS biology” Corin helps control salt and sweat release in sweat glands.
25 citations
,
October 2007 in “Developmental biology” Clim proteins are essential for maintaining healthy corneas and hair follicles.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
16 citations
,
January 2019 in “Aging” Lack of functional CYLD in mice leads to early aging and cancer.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
17 citations
,
January 2015 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
122 citations
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July 1994 in “Journal of Investigative Dermatology” 4 citations
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November 2024 in “Journal of Advanced Research” Targeting NMMHC IIA may help treat blood-brain barrier damage.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Transglutaminase 2 may control sebocyte maturation and lipid metabolism.
3 citations
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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.