November 2023 in “Scientific Reports” A gene mutation in Lama3 is linked to a common type of hair loss.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
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.
11 citations
,
October 2007 in “Journal of Investigative Dermatology” Mutations in the Sgk3 gene cause fuzzy hair in mice.
10 citations
,
July 2022 in “Dermatology and Therapy” Melasma's causes include genetics, sun exposure, hormones, and oxidative stress, and understanding these can help create better treatments.
6 citations
,
December 2015 in “International journal of immunopathology and pharmacology” AE can have varied symptoms and genetic causes, but zinc therapy helps.
4 citations
,
January 2018 in “Annals of dermatology/Annals of Dermatology” Hair transplantation successfully treated hair loss in a patient with Trichorhinophalangeal syndrome.
1 citations
,
May 2015 in “Experimental Dermatology” Overactive Stat3 in mouse skin causes hair loss and cell structure damage.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
October 2022 in “Frontiers in Genetics” The research found new potential mechanisms in mouse hair growth by studying RNA interactions.
April 2014 in “The FASEB Journal” Iron deficiency in mothers causes hair loss in their baby mice.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
309 citations
,
June 2001 in “Molecular and Cellular Endocrinology” Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
234 citations
,
April 2000 in “Gene” Msx and Dlx genes are crucial for development, controlling cell behaviors like growth and differentiation through their roles as gene regulators.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
112 citations
,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
100 citations
,
August 2008 in “American Journal Of Pathology” VEGF-A is crucial for normal skin function and may be linked to psoriasis.
92 citations
,
April 2009 in “Journal of Investigative Dermatology” The Celsr1 gene is crucial for normal hair patterning in mice.
90 citations
,
December 2008 in “Journal of Investigative Dermatology” Thyroid-stimulating hormone affects hair follicles but doesn't change hair growth or color.
89 citations
,
January 2020 in “PubMed” Early detection and biotin treatment improve outcomes for biotinidase deficiency.
66 citations
,
January 2020 in “Acta Dermato Venereologica” New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
57 citations
,
February 2006 in “Journal of Investigative Dermatology” Cylindromas likely originate from hair follicle stem cells, not sweat glands.
37 citations
,
May 2018 in “Frontiers in physiology” Certain RNA molecules are important for the development of wool follicles in sheep.
37 citations
,
August 2015 in “The Journal of Steroid Biochemistry and Molecular Biology” The vitamin D receptor can regulate genes and affect hair and hormone levels without its usual activator.
35 citations
,
January 2011 in “Journal of Biological Chemistry” sPLA2-X is crucial for normal hair growth and follicle health.
35 citations
,
March 2010 in “BMC veterinary research” Goats with BSE or scrapie show varying symptoms, and using only clinical signs may not detect all scrapie cases.
22 citations
,
March 2023 in “Bioengineering” Stem cell therapies may help improve symptoms and quality of life for people with epidermolysis bullosa.
21 citations
,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
20 citations
,
March 2021 in “Drug design, development and therapy” Topical immunotherapy can treat alopecia areata, but its effectiveness varies and the exact mechanism is unclear.
20 citations
,
July 2005 in “Experimental dermatology” The fuzzy gene is crucial for controlling hair growth cycles.