November 2022 in “Journal of Investigative Dermatology” Minoxidil and PRP can help convert miniaturized hair follicles back to normal in male pattern baldness.
45 citations
,
July 2009 in “Journal of Investigative Dermatology” The S100A4 protein is more common in psoriatic skin and could be a target for treating psoriasis.
22 citations
,
January 2009 in “Advances in experimental medicine and biology” FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
January 2026 in “Pediatrics International” Live vaccines can be safely given to infants with a FOXN1 variant if their immune function improves over time.
12 citations
,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
28 citations
,
October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
27 citations
,
July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
89 citations
,
March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
87 citations
,
March 2007 in “Biological Chemistry” Deleting the scd1 gene in mice prevents obesity by disrupting skin lipids and improving heat regulation.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
66 citations
,
October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
5 citations
,
October 2015 in “The American journal of pathology” Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
14 citations
,
September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
165 citations
,
September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
16 citations
,
January 2019 in “Aging” Lack of functional CYLD in mice leads to early aging and cancer.
28 citations
,
November 2013 in “The FASEB journal” Mice with CBS deficiency are healthier on a low-methionine diet.
44 citations
,
September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
179 citations
,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
1 citations
,
February 2023 in “Pediatric Dermatology” Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
56 citations
,
September 2010 in “Veterinary pathology” Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
53 citations
,
July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
6 citations
,
June 2012 in “PloS one” A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
7 citations
,
August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
14 citations
,
September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
3 citations
,
May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.