12 citations
,
February 2023 in “Applied and Environmental Microbiology” Mutants of CYP154C2 enzyme significantly improved steroid conversion efficiency.
55 citations
,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
26 citations
,
June 2024 in “Frontiers in Immunology” SOCS1 and SOCS3 help control skin inflammation and are important for developing treatments for skin diseases.
13 citations
,
March 1999 in “Biochemical Journal” Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
75 citations
,
August 2018 in “Plant physiology” Hydrogen sulfide disrupts protein function and root hair growth in plants by modifying proteins.
14 citations
,
February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
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.
8 citations
,
March 2015 in “International Journal of Oncology” Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
114 citations
,
July 2003 in “PubMed” Lack of KSR1 stops certain skin tumors in mice.
7 citations
,
August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
2 citations
,
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Mutant stem cells adapt their metabolism differently to outcompete normal cells in the skin.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
22 citations
,
April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
23 citations
,
June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
28 citations
,
February 2010 in “Experimental Dermatology” The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
21 citations
,
October 2017 in “Cell death and disease” Sesn2 protects inner ear hair cells from damage by regulating certain cell survival pathways.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
September 2016 in “Journal of Dermatological Science” Both SMS1 and SMS2 are crucial for normal hair growth and cycle in mice.
54 citations
,
February 2002 in “Carcinogenesis” Increasing SSAT makes skin more prone to cancer.
49 citations
,
August 1999 in “Journal of Investigative Dermatology” Overexpressing the MSX-2 gene in mice causes skin and hair growth issues.
158 citations
,
December 2002 in “Development” Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
37 citations
,
February 2005 in “Journal of Investigative Dermatology” Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
113 citations
,
May 2002 in “PubMed” Overexpressing COX-2 in mice skin reduces skin tumor development.
51 citations
,
December 2006 in “Mammalian Genome” 112 citations
,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
8 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
14 citations
,
February 2018 in “Psychoneuroendocrinology” Mice lacking steroid 5α-reductase 2 show less aggression and better impulse control.
1 citations
,
January 2022 in “Research Square (Research Square)” CRISPR/Cas9 editing in spinach affects root hair growth by altering specific genes.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.