8 citations
,
January 2013 in “genesis” Zfp157 is active in many mouse tissues during development and in specific adult cells.
July 2024 in “Journal of Investigative Dermatology” Losing both ERBB2 and ERBB3 receptors in mice causes significant skin problems and inflammation.
30 citations
,
March 2019 in “Archives animal breeding/Archiv für Tierzucht” The KRTAP15-1 gene affects cashmere fiber thickness in goats.
277 citations
,
July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
21 citations
,
May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
1 citations
,
April 2021 in “IntechOpen eBooks” The PCR technique can identify genetic differences in a wool-related gene among different sheep breeds, which may help improve wool and pelt quality.
147 citations
,
April 1997 in “Oncogene” Overexpressing IGF-1 in mice leads to skin abnormalities and tumors.
December 2015 in “University of Birmingham Institutional Research Archive (University of Birmingham)” AKR1C3 could be a treatment target for metabolic issues in PCOS.
27 citations
,
July 2017 in “European Journal of Dermatology” Certain microRNAs are linked to various skin diseases and could be used to diagnose and treat these conditions.
86 citations
,
December 2002 in “Tissue Antigens” A specific gene change is linked to severe hair loss.
54 citations
,
July 2017 in “Scientific Reports” JMJD3 and NF-κB activate Notch1, which is essential for skin cell movement and wound healing.
17 citations
,
June 2019 in “BMC genomics” Non-coding RNAs help control hair growth in cashmere goats.
Defective protein folding due to a mutation is key in ANE syndrome.
47 citations
,
April 2021 in “BMC Medical Genomics” Certain gene variants can influence acne risk and severity.
42 citations
,
July 2007 in “Journal of Biological Chemistry” Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
3 citations
,
October 2020 in “Journal of Investigative Dermatology” Removing β-catenin in certain stem cells causes hair whitening and pigmentation issues.
260 citations
,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
28 citations
,
January 2012 in “Biological & pharmaceutical bulletin” Hairless protein can both repress and activate vitamin D receptor functions, affecting gene regulation.
299 citations
,
March 2001 in “Journal of Investigative Dermatology” Male pattern baldness is linked to specific genetic variations in the androgen receptor gene.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
5 citations
,
September 2013 in “BMB Reports” BMPR1a-ECD reduces wrinkles much more effectively than retinoic acid.
April 2023 in “Research Square (Research Square)” A specific RNA helps increase the growth of skin cells in Liaoning cashmere goats by working with a protein to boost a growth-related gene.
November 2025 in “Figshare” SQSTM1 is linked to increased risk of alopecia areata.
11 citations
,
September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
178 citations
,
May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
April 2019 in “Journal of the Endocrine Society” A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
July 2025 in “Journal of Investigative Dermatology” 38 citations
,
April 2016 in “The Journal of Pathology” Alkaline ceramidase 1 is crucial for healthy skin and energy balance.
28 citations
,
November 2013 in “The FASEB journal” Mice with CBS deficiency are healthier on a low-methionine diet.