22 citations
,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
14 citations
,
May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
11 citations
,
January 2009 in “World Journal of Gastroenterology” A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
21 citations
,
August 2002 in “British Journal of Ophthalmology” Intralesional cidofovir may be a viable alternative treatment for SCC.
January 2021 in “Veterinary research forum” A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
7 citations
,
March 2012 in “European Journal of Pediatrics” A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
11 citations
,
December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
April 2024 in “Pigment cell & melanoma research” Different types of resting melanocyte stem cells have unique characteristics and vary in their potential to become other cells.
April 2019 in “Journal of Investigative Dermatology” Researchers created a new mouse model for studying scleroderma.
9 citations
,
July 2022 in “EMBO molecular medicine” Blocking certain immune signals can reduce skin damage from radiation therapy.
15 citations
,
January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
7 citations
,
November 2010 in “Genesis” Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
29 citations
,
December 2004 in “Developmental biology” cDermo-1 causes dense skin, feathers, and scales in chickens.
January 2024 in “Genetics in Medicine Open” A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
January 2011 in “Junshi yixue” A mouse model for studying scleroderma in chronic graft-versus-host disease was successfully created.
28 citations
,
September 2014 in “Journal of Veterinary Internal Medicine” VDC-1101 shows potential as a treatment for canine cutaneous T-cell lymphoma.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
April 2018 in “Journal of Investigative Dermatology” Id2 gene helps keep hair follicle stem cells inactive.
6 citations
,
December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
26 citations
,
July 2007 in “Biochemical Pharmacology” ISCK03 stops melanin production in human melanoma cells and lightens skin color in mice and guinea pigs.
36 citations
,
March 2014 in “Molecular and Cellular Biology” Cidea is essential for proper lipid storage and secretion in sebaceous glands, affecting skin and hair health.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is crucial for seborrheic dermatitis development.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Different types of inactive melanocyte stem cells exist with unique characteristics and potential to develop into other cells.
2 citations
,
August 2016 in “Journal of Investigative Dermatology” January 2022 in “Mammalian Genome” The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
14 citations
,
February 2018 in “Psychoneuroendocrinology” Mice lacking steroid 5α-reductase 2 show less aggression and better impulse control.
13 citations
,
September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
88 citations
,
August 2014 in “PLOS genetics” Syndecan-1 is essential for maintaining skin fat and preventing cold stress.