42 citations,
January 2017 in “Genes” The gene KAP22-1 affects wool yield and fiber shape in sheep.
4 citations,
July 2012 in “Genesis” The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
10 citations,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
7 citations,
December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
5 citations,
September 2018 in “International journal of genomics” Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
November 2024 in “Biochemical and Biophysical Research Communications” Abnormal gene expression related to keratin causes hair loss in certain mice.
95 citations,
February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
1 citations,
September 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
69 citations,
January 2013 in “Frontiers in Immunology” The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
September 2022 in “Canadian journal of animal science” Certain gene variations are linked to the thickness of cashmere goat hair.
92 citations,
December 2005 in “The Journal of clinical investigation/The journal of clinical investigation” Human hair follicle stem cells can be isolated using specific markers for potential therapeutic use.
2 citations,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
3 citations,
February 2021 in “FEBS open bio” Camellia japonica extract may improve scalp health and promote hair growth.
August 2020 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
199 citations,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
January 2018 in “Stem cell biology and regenerative medicine” The conclusion is that the nuclear lamina and LINC complex in skin cells respond to mechanical signals, affecting gene expression and cell differentiation, which is important for skin health and can impact skin diseases.
January 2006 in “Advances in developmental biology” The Hairless gene is crucial for healthy skin and hair growth.
107 citations,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
44 citations,
January 2004 in “American journal of clinical dermatology” Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
36 citations,
October 1996 in “Dermatologic Clinics” Mice are useful for researching human hair loss and testing treatments, despite some differences between species.
1 citations,
February 2009 in “Journal of Investigative Dermatology” Lipase H is important for hair follicle function and shaping hair fibers.
2 citations,
November 2015 in “Actas Dermo-Sifiliográficas” Epidermal stem cells show promise for future dermatology treatments due to ongoing advancements.
74 citations,
September 2006 in “Cell Cycle” The HR protein's role as a repressor is essential for controlling hair growth.
17 citations,
October 2017 in “Scientific reports” Fine wool sheep have more genes for wool quality, while coarse wool sheep have more for skin and muscle traits.
September 2022 in “IP Indian journal of clinical and experimental dermatology” An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
April 2017 in “Journal of Investigative Dermatology” Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
39 citations,
April 2020 in “Clinical, Cosmetic and Investigational Dermatology” Asian hair is generally straight and thick, with unique disorders and properties, and more research is needed to understand it fully.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.