A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
135 citations
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May 1994 in “Medical Entomology and Zoology” Mouse models help study genetic skin diseases.
19 citations
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November 1993 in “Mammalian Genome” A gene mutation in mice causes permanent hair loss and skin issues.
9 citations
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January 2011 in “EXPERIMENTAL ANIMALS” A new rat strain with a specific gene mutation causes hair loss and kidney issues.
52 citations
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October 1999 in “Developmental Dynamics” Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
15 citations
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October 1999 in “PubMed” Understanding genes and mutations can lead to new treatments for hair loss disorders.
48 citations
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July 1988 in “PubMed” Rhino mice show significant meibomian gland changes, making them a potential model for studying gland disorders.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
40 citations
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February 1946 in “Canadian Journal of Research/Canadian journal of research” Hereditary factors cause hair loss in mice by affecting skin and hair follicle structure.
126 citations
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October 1998 in “Experimental Dermatology” The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
52 citations
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July 2011 in “PubMed” TRPS1 is crucial for bone, kidney, and hair follicle development.
10 citations
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January 2010 in “Veterinary pathology” A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.
6 citations
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January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
2 citations
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November 2017 in “PloS one” Some vitamin D analogs can thicken skin and reduce pore size like a common acne treatment, with one analog also affecting skin growth factors.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
96 citations
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June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
April 2017 in “Journal of Dermatological Science” Benzoyl peroxide and adapalene gels work differently to reduce acne in mice.
1 citations
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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
50 citations
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February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
83 citations
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October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
66 citations
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December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
21 citations
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June 2009 in “Mammalian genome” A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
9 citations
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July 2011 in “Scientific Reports” Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
3 citations
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January 2019 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
139 citations
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September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
74 citations
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September 2006 in “Cell Cycle” The HR protein's role as a repressor is essential for controlling hair growth.
18 citations
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February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
7 citations
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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.
87 citations
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March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.