April 2019 in “Journal of Investigative Dermatology” Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
May 2017 in “The journal of immunology/The Journal of immunology” Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
January 2025 in “Open Life Sciences” Overexpression of the HE4 gene in mice causes eye inflammation and cloudiness.
54 citations
,
January 1995 in “Human Molecular Genetics” Monilethrix is linked to a gene cluster on chromosome 12.
15 citations
,
October 1976 in “Biochemical Journal” Naked-mouse hair lacks certain proteins and has less soluble fibril.
2 citations
,
June 2012 in “Journal of Dermatological Science” The gene HDC is important for the development of hair follicles in newborn mice.
May 2000 in “Journal of Investigative Dermatology” Hedgehog signaling is crucial for hair development, cadherins affect cell adhesion, neutrophils play a role in skin lesions, and BP230 autoantibodies impact skin stability.
5 citations
,
January 1993 in “PubMed” Retinoic acid can change skin structures in vertebrates, like turning scales into feathers or hair buds into glands.
13 citations
,
June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
11 citations
,
May 2012 in “Genesis” Bmpr2 and Acvr2a receptors are crucial for hair retention and color.
1 citations
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May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The fer-ts mutation in plants prevents root hair growth at high temperatures.
April 1981 in “Pediatric research” Copper treatments increase copper in all tissues, but brindled female mice accumulate much more copper in their kidneys without clinical effects, unlike brindled male mice where brain copper deficiency is clinically significant.
August 2007 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Overexpression of a specific receptor in mice skin causes skin thinning, early skin barrier formation, eye issues, and hair loss.
Defective nuclear transport may cause gene expression changes in Progeria.
16 citations
,
August 2022 in “Nature Communications” ROR2 is essential for hair follicle stem cell renewal and maintenance.
227 citations
,
January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
94 citations
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
April 2023 in “Journal of Investigative Dermatology” LSD1 is essential for healthy skin development and creating the skin's protective barrier.
March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
April 2025 in “Experimental Eye Research” The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
September 2025 in “JCEM Case Reports” Consider rare forms of CAH for accurate diagnosis and treatment.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” GRK2 is essential for healthy hair follicle function, and its absence can lead to hair loss and cysts.
37 citations
,
August 1999 in “Journal of Investigative Dermatology” A specific gene mutation causes complete hair loss without other health issues.
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
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.
19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
578 citations
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April 1993 in “Cell” TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.
34 citations
,
January 2004 in “PubMed” DHT deficiency in rats reduces sperm content and affects testis structure over time.
49 citations
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October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.