18 citations
,
March 2004 in “The Journal of Urology” Hypospadiac rats showed abnormal genital development, useful for studying human hypospadias.
4 citations
,
April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
June 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” A specific molecular switch, driven by MAPK/ERK signaling, helps spiny mice heal wounds by regenerating skin instead of forming scars.
4 citations
,
July 1987 in “Laboratory Animals” Female rats aged 8 weeks are best for this model.
2 citations
,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
81 citations
,
January 2006 in “Journal of cellular physiology” Mice without the vitamin D receptor gene lose hair due to disrupted hair follicle cycles.
15 citations
,
May 1987 in “Fundamental and applied toxicology” SMR-2 and SMR-6 are much more toxic than retinoic acid, causing severe side effects.
March 2021 in “Medico-Legal Update” The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.
A new genetic mutation was found causing hair and eye issues in a boy.
3 citations
,
December 2020 in “Scientific reports” Mitochondrial problems in tooth cells lead to bad enamel and dentin development in mice.
11 citations
,
November 2019 in “The FASEB Journal” A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
51 citations
,
January 2006 in “Wound Repair and Regeneration” MRL/MpJ mice's skin wounds heal with scars, unlike their ear wounds which can regenerate.
January 2012 in “heiDOK (Heidelberg University)” Dormant melanoma cells in mice interact minimally with memory T cells due to a suppressive tumor environment.
26 citations
,
September 1999 in “Canadian Journal of Botany” The RHD4 gene is crucial for consistent root hair growth in Arabidopsis thaliana.
7 citations
,
March 2022 in “The FASEB journal” Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
September 2016 in “Journal of dermatological science” Transplanted whisker follicles caused hair growth on the spine of mice.
20 citations
,
March 1975 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” The study concludes that a genetic mutation in TFM mice leads to reduced androgen receptor activity, affecting the body's response to male hormones.
24 citations
,
July 1994 in “Journal of Investigative Dermatology” November 2024 in “Biochemical and Biophysical Research Communications” Abnormal gene expression related to keratin causes hair loss in certain mice.
Defective protein folding due to a mutation is key in ANE syndrome.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
June 2008 in “The Knowledge Bank (The Ohio State University)” Smad2 and Smad3 are essential for normal skin development, and their absence causes severe skin issues and cancer.
29 citations
,
November 2011 in “Veterinary pathology” The study found that mouse sweat glands develop before birth, mature after birth, and have specific keratin patterns.
75 citations
,
February 2017 in “Aging” SkQ1 antioxidant improved health and lifespan in mice.
215 citations
,
November 2000 in “Journal of Investigative Dermatology” The system allows precise control of gene expression in mouse skin, useful for studying skin biology.
1 citations
,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
3 citations
,
March 2023 in “Annals of the New York Academy of Sciences” Mutations in claudin-1 and claudin-3 cause hair loss in baby mice.
12 citations
,
September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.