January 2005 in “Enlighten: Publications (The University of Glasgow)” Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.
2 citations
,
August 2022 in “Animals” Different versions of the KRTAP6-2 gene in goats can lead to thinner cashmere fibers.
11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
1 citations
,
September 2017 C-scores can help predict gain-of-function and loss-of-function mutations.
11 citations
,
November 2019 in “The FASEB Journal” A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
6 citations
,
May 2016 in “Experimental Dermatology” The type of tumor suppressor gene lost affects the behavior of skin cancer.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” HPV8 causes hair follicle stem cells to grow, leading to skin lesions.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
1 citations
,
August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
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.
6 citations
,
December 2022 in “Journal of Infection” The ACE1 gene variant doesn't affect long-COVID symptoms.
7 citations
,
April 2004 in “International Journal of Dermatology” The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Not having enough cystatin M/E protein causes less hair growth and dry skin.
30 citations
,
June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
4 citations
,
November 2020 in “Acta Dermato Venereologica” Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.
25 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
The microenvironment affects the behavior and survival of melanocytes with the GNAQ oncogene in melanoma.
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
53 citations
,
September 1999 in “The journal of cell biology/The Journal of cell biology” K16 can partially replace K14 but causes hair loss and skin issues.
10 citations
,
July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
22 citations
,
March 1994 in “Journal of Heredity” A mutation in mice causes hair loss and immune problems.
3 citations
,
May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
8 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.
1 citations
,
July 2023 in “Nature communications” MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
1 citations
,
July 2020 in “The Egyptian Journal of Hospital Medicine” The MDR1 C3435T polymorphism does not significantly affect methotrexate response in rheumatoid arthritis patients.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.