4 citations
,
January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
2 citations
,
September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
35 citations
,
October 2002 in “Biochemical and Biophysical Research Communications” The research cloned keratin 7 genes from humans, mice, and marsupials, found similarities between human and mouse genes, and discovered new areas of K7 expression in mice.
25 citations
,
February 2021 in “Diabetes” Dock5 is important for skin healing and could help treat diabetic wounds.
114 citations
,
May 2001 in “Development” Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
2 citations
,
April 2010 in “The Open Dermatology Journal” Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
January 2026 in “PLoS Biology” ARHGEF3 is essential for proper hair follicle development in mice.
75 citations
,
October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
29 citations
,
December 2004 in “Developmental biology” cDermo-1 causes dense skin, feathers, and scales in chickens.
March 1998 in “Journal of Dermatological Science” Keratin-associated proteins may have roles in various mouse tissues, not just hair.
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
119 citations
,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
112 citations
,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
January 2014 in “China Animal Husbandry & Veterinary Medicine” The KAP8-1 gene affects skin, hair follicle development, and wool quality in different sheep varieties.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
9 citations
,
March 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Ectodysplasin signaling is crucial for skin appendage development, requiring specific doses and durations.
7 citations
,
December 2019 in “Experimental and Therapeutic Medicine” WNT10B affects hair growth by altering gene activity in hair cells.
June 2024 in “Archives of Dermatological Research” SFRP2 and PTGDS may be key factors in female hair loss.
3 citations
,
August 2021 in “Research Square (Research Square)” The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
87 citations
,
September 2019 in “Nature Communications” SOX11 and SOX4 help skin cells act like embryonic cells to heal wounds in mice.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
Lhx2 is essential for effective Sonic Hedgehog signaling in early retinal development.
April 2026 in “The FASEB Journal” Exosomal miR-199a-3p from dermal papilla cells helps control hair color by affecting melanocytes.
48 citations
,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
27 citations
,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
7 citations
,
August 2020 in “Animal biotechnology” A specific RNA in cashmere goats helps improve hair growth by interacting with certain molecules.
32 citations
,
May 2018 in “The Plant Cell” ERULUS is crucial for root hair growth by controlling calcium levels.