30 citations
,
January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
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.
188 citations
,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
60 citations
,
July 2014 in “Autophagy” The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
1 citations
,
August 2024 in “Animals” KRT85 gene variations can help improve wool traits in sheep through selective breeding.
1 citations
,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
April 2025 in “Experimental Eye Research” The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
69 citations
,
May 1997 in “Veterinary Pathology” The angora mouse mutation causes long hair and hair defects due to a gene deletion.
2 citations
,
August 1987 in “Archives of Dermatology” Langerhans' cells are not responsible for depigmentation in this mouse model.
1 citations
,
May 2013 in “PubMed” Glycylglycine makes hair softer by improving alignment and changing hair's internal properties.
79 citations
,
February 2009 in “Human Genetics” 128 citations
,
December 2006 in “Journal of Biological Chemistry” Altering SSAT affects fat metabolism and body fat in mice.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
1 citations
,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
9 citations
,
January 1981 Nucleophilic reagents break down hair keratin, forming more lanthionine and lysinoalanine than in wool.
November 2022 in “Journal of Investigative Dermatology” Neutrophils quickly respond to skin injury.
185 citations
,
December 2010 in “Archives of Biochemistry and Biophysics” Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
July 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature”
19 citations
,
August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
6 citations
,
December 2019 in “Frontiers in genetics” GLI1 might protect against the start of skin cancer and is not linked to cancer severity.
February 2025 in “Archives animal breeding/Archiv für Tierzucht” Certain gene combinations improve cashmere quality and production in Liaoning goats.
16 citations
,
January 2017 in “Physical chemistry chemical physics/PCCP. Physical chemistry chemical physics” The 3D structure of a key hair protein was modeled, revealing specific helical structures and stabilization features.
14 citations
,
July 2001 in “American Journal of Human Genetics” Haplogroup X found in Altaian population supports Amerindian origin.
29 citations
,
June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
26 citations
,
June 2003 in “PubMed” Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
20 citations
,
May 2011 in “Journal of Clinical Investigation” The study created a mouse model to mimic degenerative diseases for testing tissue repair and new therapies.
November 2025 in “Journal of Diabetes Investigation” Dapagliflozin improved blood sugar control in a man with Werner syndrome without side effects.
November 2022 in “Journal of Investigative Dermatology” Dynlt3 is important for melanosome transport and skin coloration.