9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
6 citations
,
January 2022 in “Gene” Scientists found 53 keratin genes in yaks that are important for hair growth and share similarities with those in other animals.
28 citations
,
November 2019 in “Gene” The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
14 citations
,
May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
12 citations
,
August 1984 in “Genetics Research” The N gene affects the protein makeup of mouse hair.
29 citations
,
December 2004 in “Developmental biology” cDermo-1 causes dense skin, feathers, and scales in chickens.
25 citations
,
October 2000 in “Gene” Gene regulatory regions evolve faster than protein coding regions, allowing new gene relationships without changing transcription factors.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Activating β-catenin increases melanocytes and decreases Schwann cells.
1 citations
,
January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
May 2005 in “Molecular Carcinogenesis” mrp/plf-mRNA can indicate tumor-promoting effects in skin.
36 citations
,
October 2000 in “British Journal of Dermatology” A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” Disrupting the Hars2 gene in mice causes hearing loss due to mitochondrial problems and hair cell damage.
Mutations in specific genes cause different types of ectodermal dysplasias.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
April 2018 in “Journal of Investigative Dermatology” CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
5 citations
,
March 2021 in “F1000Research” A specific gene variation increases the risk of high uric acid and cholesterol in young Mexican males.
April 2017 in “Journal of Investigative Dermatology” Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
6 citations
,
January 2025 in “Differentiation” WNT10A is important for tissue development and linked to various human disorders.
28 citations
,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
40 citations
,
December 2012 in “PLoS ONE” Removing Ctip2 in skin cells causes skin inflammation similar to atopic dermatitis.
141 citations
,
February 1988 in “Molecular and Cellular Biology” Only one K16 gene on chromosome 17 makes a functional keratin protein.
85 citations
,
August 2015 in “Journal of Applied Genetics” Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
197 citations
,
June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
January 2025 in “Frontiers in Cell and Developmental Biology” Hox proteins help maintain keratinocyte identity by regulating miRNA expression.
September 2017 in “Journal of Investigative Dermatology” Ovol2 is essential for normal skin and hair regeneration.
3 citations
,
March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
5 citations
,
October 2020 in “Frontiers in Cell and Developmental Biology” Reducing FOXA2 in skin cells lowers their ability to grow hair.
58 citations
,
June 2018 in “Scientific reports” Researchers found 15 new genetic links to skin traits in Japanese women.
79 citations
,
June 1993 in “Molecular and Cellular Biology” The K5 promoter controls gene expression in skin cells, with specific DNA segments crucial for targeting and regulation.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.