October 2024 in “Journal of the Endocrine Society” Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.
18 citations
,
June 2001 in “Journal of Investigative Dermatology” Adding a specific gene to skin cells can help treat skin disorders like psoriasis.
72 citations
,
November 2017 in “Journal of developmental biology” The Hedgehog signaling pathway is important for skin and hair growth and can lead to cancer if it doesn't work right.
June 2022 in “Indian journal of clinical and experimental opthalmology” The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
3 citations
,
January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
29 citations
,
March 2016 in “Cell cycle/Cell cycle (Georgetown, Tex. Online)” Isoproterenol helps hair follicle stem cells turn into beating heart muscle cells.
29 citations
,
January 2003 in “Genomics” A new mouse mutation causes skin and hair issues, influenced by another gene.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” 17β-estradiol may help hair growth by increasing cannabinoid receptor type 1.
4 citations
,
August 2007 in “PubMed” A woman lost all her body hair after hepatitis C treatment, but it started to grow back a year after stopping the treatment.
1 citations
,
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” People with Hidradenitis Suppurativa have less diverse skin bacteria and different bacterial metabolism than healthy individuals.
4 citations
,
November 2020 in “Acta Dermato Venereologica” Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.
16 citations
,
September 2006 in “The Journal of Immunology” MILL molecules are unique immune proteins in mice that don't need TAP to appear on cell surfaces.
86 citations
,
January 1990 in “The Journal of Pediatrics” Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.
46 citations
,
December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
23 citations
,
June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
6 citations
,
January 2010 in “Journal of Biochemical and Molecular Toxicology” The ID2 gene can help distinguish between sensitizers and irritants in skin cells.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
17 citations
,
November 1967 in “American Journal of Anatomy” Hairless mice have longer hair follicles and abnormal structures during the catagen phase.
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
13 citations
,
May 1998 in “The Journal of Clinical Endocrinology & Metabolism” LH and hCG reduce certain protein levels in women's skin.
4 citations
,
August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
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.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
30 citations
,
October 1999 in “Differentiation” Mutant MK6a transgenes in mice cause blistering, hair loss, and potential human alopecia.
April 2023 in “Journal of Investigative Dermatology” CD8+ T cells attack hair follicle stem cells, causing scarring and hair loss.
7 citations
,
August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
July 2024 in “Journal of Investigative Dermatology” Hair follicles are crucial for maintaining skin barrier function.
104 citations
,
July 1994 in “The Journal of Cell Biology” Basonuclin helps keratinocytes multiply and prevents them from fully maturing.
36 citations
,
October 2007 in “Journal of Investigative Dermatology” Betacellulin helps blood vessel growth in wounds but delays hair growth.
Defective nuclear transport may cause gene expression changes in Progeria.