32 citations
,
February 2008 in “Developmental dynamics” Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
44 citations
,
January 1984 in “Molecular and Cellular Biochemistry” Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.
95 citations
,
September 2012 in “Oman Medical Journal” Mutations in keratin genes can cause skin and mucosa disorders.
A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.
March 2025 in “International Journal of Molecular Sciences” The study created a mouse model to better understand hair follicle stem cells' role in hair growth and repair.
11 citations
,
November 2015 in “Carcinogenesis” Deleting TNFα gene reduces skin cancer risk in certain mice.
179 citations
,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
14 citations
,
April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
20 citations
,
February 2010 in “Journal of Investigative Dermatology” Slug (Snai2) helps regulate hair growth timing in mice.
April 2018 in “Journal of Investigative Dermatology” Dsg1 is essential for maintaining a healthy skin barrier in mice.
25 citations
,
September 2018 in “Molecular Biology of the Cell” Blocking Wnt/β-catenin signaling with EGF receptor is necessary for proper hair growth.
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.
6 citations
,
October 2012 in “Journal of Heredity” The Itpr3 gene causes a specific hair pattern in mice.
10 citations
,
September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
4 citations
,
April 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” The improved genome of the African spiny mouse helps study its tissue regeneration.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
79 citations
,
August 1998 in “The Journal of Cell Biology” Keratin 16 delays skin maturation and affects skin and hair development in mice.
24 citations
,
May 2019 in “PLOS ONE” The African spiny mouse can fully regenerate its muscle without scarring, unlike the common house mouse.
14 citations
,
December 1991 in “Annals of the New York Academy of Sciences” MYC protooncogenes may be important for hair growth, but more research is needed.
18 citations
,
February 2001 in “Der Hautarzt” A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
48 citations
,
January 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Chemokine signaling is important for hair development.
265 citations
,
March 1993 in “The EMBO Journal” Keratinocyte growth factor significantly alters skin and tissue development.
19 citations
,
July 2020 in “EBioMedicine” A gene variant increases the risk of a type of hair loss by affecting hair protein production.
20 citations
,
July 2017 in “Journal of Investigative Dermatology” IL-1 receptor absence in mice leads to skin cysts and changes in immune response after UVB exposure.