11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
6 citations
,
January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
8 citations
,
March 2010 in “Gynecological Endocrinology” Free Testosterone Index, bioavailable testosterone, and androstenedione are the most accurate for diagnosing excess male hormones in PCOS.
October 2017 in “Anesthesia and Pain Medicine” Repeated left stellate ganglion blocks may improve skin elasticity, water content, and hair follicle density on the treated side.
65 citations
,
March 2018 in “Journal of Dermatological Science” Skin problems can be caused or worsened by physical forces and pressure on the skin.
35 citations
,
November 1931 in “Journal of Genetics” Hairless mice lack fur due to a genetic mutation affecting skin response, not hormone issues.
22 citations
,
March 1994 in “Journal of Heredity” A mutation in mice causes hair loss and immune problems.
9 citations
,
March 2012 in “Experimental dermatology” Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
2 citations
,
January 2017 in “AIMS cell and tissue engineering” Mesenchymal stem cells show promise for treating various skin conditions and may help regenerate hair.
January 2022 in “Revista Dermatológica Centro Uraga” Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
August 2022 in “Tissue Engineering Part A” Advancements in skin treatment and wound healing include promising gene therapy, 3D skin models, and potential new therapies.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
July 2005 in “British Journal of Dermatology” New gene mutations linked to skin conditions were found, bacteria and chemicals may worsen acne, a dog mutation could exist in humans, virus-like elements might be involved in psoriasis, and a vitamin D3 treatment doesn't prevent chemotherapy-related hair loss.
29 citations
,
December 2019 in “Stem Cells Translational Medicine” Fully regenerating human hair follicles not yet achieved.
6 citations
,
July 2016 in “Gynecological Endocrinology” PSA levels are higher in women with PCOS, but FAI is a more accurate marker for diagnosis.
August 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Mouse touch-sensitive nerve cells adjust their connections based on competition with other similar cells.
179 citations
,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
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.
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.
91 citations
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July 2020 in “JAMA Dermatology” Minoxidil can improve hair growth in some patients with woolly hair due to LIPH variants, with varying responses and mild side effects.
89 citations
,
September 2010 in “Annual Review of Genomics and Human Genetics” The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
75 citations
,
September 2007 in “Journal of Heredity” FGF5 gene mutations cause long hair in domestic cats.
74 citations
,
October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
66 citations
,
January 2020 in “Acta Dermato Venereologica” New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
46 citations
,
August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
44 citations
,
March 2019 in “Experimental Dermatology” A wide range of proteins are integrated into the skin's protective layer.
39 citations
,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.