April 2019 in “Journal of Investigative Dermatology” Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
20 citations
,
March 1975 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” The study concludes that a genetic mutation in TFM mice leads to reduced androgen receptor activity, affecting the body's response to male hormones.
227 citations
,
January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
36 citations
,
June 2021 in “Experimental & Molecular Medicine” Targeting Hedgehog signaling may help treat ligamentum flavum fibrosis.
26 citations
,
September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
April 2024 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A new change in the WNT10A gene caused a condition leading to short hair growth in a Chinese family.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
16 citations
,
October 2014 in “Cell death and disease” FoxN1 overexpression in young mice harms immune cell and skin development.
FGF5 spliceosomes inhibit rabbit hair growth by affecting gene expression.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
10 citations
,
May 2020 in “International Journal of Molecular Sciences” Hair follicles can be used to study gene mutations in Stargardt disease.
39 citations
,
December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
7 citations
,
September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
5 citations
,
May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
April 2023 in “Research Square (Research Square)” A specific RNA helps increase the growth of skin cells in Liaoning cashmere goats by working with a protein to boost a growth-related gene.
11 citations
,
November 2014 in “Behavior Genetics”
245 citations
,
January 1998 in “Genes & Development” Hoxc13 gene is essential for hair, nail, and papilla development.
2 citations
,
August 2021 in “Animal Cells and Systems” Egfl6 is not needed for zebrafish face development.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
9 citations
,
December 2002 in “Novartis Foundation Symposium” LEF1 is essential for the development of airway glands and is regulated by the Wnt/ß-catenin pathway.
1 citations
,
December 2022 in “BMC Genomics” The Msx2 gene affects feather development in Hungarian white geese and a specific gene variation could indicate feather quality.
July 2023 in “The Keio Journal of Medicine” Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
1 citations
,
April 2025 in “American Journal of Medical Genetics Part C Seminars in Medical Genetics” Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
1 citations
,
May 2023 in “Frontiers in Pharmacology” Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
53 citations
,
October 2014 in “Free radical biology & medicine” Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
22 citations
,
January 2009 in “Advances in experimental medicine and biology” FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.