15 citations
,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
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.
August 2019 in “Research Square (Research Square)” Certain long non-coding RNAs in cashmere goats affect hair growth when treated with a specific growth factor.
38 citations
,
January 2016 in “Cell Death and Disease” The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
13 citations
,
June 2014 in “Molecular therapy” The lentiviral array can monitor and predict gene activity during stem cell differentiation.
6 citations
,
January 2024 in “Annals of Dermatology” Dickkopf-related Protein 2 can help hair grow by activating a specific cell pathway.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
July 2022 in “Journal of Investigative Dermatology” Dkk4 is necessary for the initial development and arrangement of hair follicles.
19 citations
,
March 2022 in “Molecular therapy. Nucleic acids” A specific RNA, circNlgn, contributes to heart damage and scarring caused by the cancer drug doxorubicin.
60 citations
,
March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
40 citations
,
May 2005 in “Journal of Cell Science” Truncated LTBP-1 disrupts TGF-β signaling, affecting hair growth.
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.
August 2019 in “Journal of Investigative Dermatology” Frog skin cells need the protein desmoplakin for proper development and cell layer formation.
June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
3 citations
,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
6 citations
,
January 2017 in “Advances in Experimental Medicine and Biology” Runx genes are important for stem cell regulation and their roles in aging and disease need more research.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
1 citations
,
August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
39 citations
,
September 2007 in “BMC developmental biology” Neuregulin3 affects cell development in the skin and mammary glands.
75 citations
,
July 2016 in “New phytologist” The protein RSL4 is crucial for making root hairs longer by controlling genes related to cell growth.
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.
1 citations
,
January 2020 in “Research Square (Research Square)” Inherited color dilution in Rex rabbits is linked to DNA methylation changes in hair follicles.
42 citations
,
July 2007 in “Journal of Biological Chemistry” Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
3 citations
,
December 2024 in “Journal of Animal Science” LncRNA MSTRG.14227.1 hinders hair follicle development in cashmere goats, affecting cashmere quality.
November 2025 in “Journal of Investigative Dermatology” Dark skin has stronger barriers and structure due to specific gene activity.
August 2004 in “Journal of the American College of Surgeons” Several genes, including Hox-7A, Stra6, and Lim-1, are involved in normal palate formation.
26 citations
,
October 2016 in “Biomolecules & Therapeutics” 3-Deoxysappanchalcone helps human hair cells grow and stimulates hair growth in mice by affecting certain cell signaling pathways.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
16 citations
,
October 2014 in “Cell death and disease” FoxN1 overexpression in young mice harms immune cell and skin development.