May 2024 in “Frontiers in medicine” A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
11 citations
,
January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
8 citations
,
June 2017 in “The Journal of Infection in Developing Countries” 8 citations
,
December 2017 in “Small Ruminant Research” Variation in the TCHH gene affects wool curliness in sheep.
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.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” MEF2C is crucial for normal hair cycle progression.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
January 2000 in “Medical Entomology and Zoology” January 2017 in “Journal of Chemical Biological and Physical Sciences” Human hair keratin genes have unique simple sequence repeats that may help track genetic variations.
9 citations
,
September 2013 in “Journal of Applied Animal Research” The genetic variation in the KAP13-3 gene may affect cashmere fiber traits in Liaoning goats.
48 citations
,
July 1988 in “PubMed” Rhino mice show significant meibomian gland changes, making them a potential model for studying gland disorders.
15 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
19 citations
,
May 2016 in “Matrix Biology” Deleting a specific protein in skin cells disrupts normal hair growth and development.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
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.
September 1999 in “Molecular Carcinogenesis” Increased ODC expression makes normally tumor-resistant mice more prone to tumor development.
14 citations
,
May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
1 citations
,
August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
20 citations
,
May 2007 in “Asian-Australasian Journal of Animal Sciences” KAP8.2 gene variations affect cashmere quality in goats.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
13 citations
,
January 2012 in “International journal of trichology” The study found that hair fragility in Pili annulati may be caused by cavities and damage within the hair shafts.
1 citations
,
December 2014 in “Zenodo (CERN European Organization for Nuclear Research)” The method effectively induces skin cancer in mice for studying tumor development.
16 citations
,
January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
65 citations
,
September 2014 in “BMC genomics” Different hair types in mammals are linked to variations in specific protein genes, with changes influenced by their living environments.
November 2025 in “Probiotics and Antimicrobial Proteins” 27 citations
,
December 2005 in “Journal of Cutaneous Pathology” The malignant pilomatricoma showed strong epithelial keratin expression, suggesting it may not calcify.
14 citations
,
January 2015 in “Hormones and Cancer” Androgen receptor inactivation delays skin cancer onset and reduces incidence in mice, with gender differences in susceptibility.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.