7 citations,
October 1985 in “Genetics Research” Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.
53 citations,
August 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
April 2016 in “Journal of Investigative Dermatology” The Engrailed-1 gene plays a key role in the development of sweat glands in mice.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
694 citations,
April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
145 citations,
May 2008 in “Cancer Science” Cancer cells often have more copies of TERT and TERC genes, which helps them grow and could affect patient outcomes.
53 citations,
June 2020 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Animal models help study psoriasis but have limitations and don't fully mimic the human disease.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
20 citations,
June 2019 in “Experimental Dermatology” The research suggests that autophagy-related genes might play a role in causing alopecia areata.
52 citations,
October 1999 in “Developmental Dynamics” Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
234 citations,
April 2000 in “Gene” Msx and Dlx genes are crucial for development, controlling cell behaviors like growth and differentiation through their roles as gene regulators.
182 citations,
August 2016 in “Development” ATP-dependent chromatin-remodeling complexes are crucial for gene regulation, cell differentiation, and organ development in mammals.
May 2023 in “International journal of molecular sciences” The ABCA4 gene protects hair follicle stem cells from toxic vitamin A byproducts.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The HoxC gene cluster and its enhancers are essential for developing hair and nails in mammals.
157 citations,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
152 citations,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
86 citations,
December 2001 in “Experimental dermatology” Mutant mice help researchers understand hair growth and related genetic factors.
22 citations,
January 2018 in “Experimental Dermatology” The meeting focused on understanding, diagnosing, and finding treatments for irreversible hair loss diseases.
14 citations,
February 2022 in “The Journal of clinical investigation/The journal of clinical investigation” Scientists made a mouse model of a serious skin cancer by changing skin cells with a virus and a specific gene, which is similar to the disease in humans.
12 citations,
June 2021 in “Scientific Reports” Curcumin may help reverse aging by targeting specific genes.
71 citations,
February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
30 citations,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
25 citations,
September 2018 in “Molecular Biology of the Cell” Blocking Wnt/β-catenin signaling with EGF receptor is necessary for proper hair growth.
11 citations,
March 2001 in “Clinics in Dermatology” Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.
6 citations,
August 2022 in “Science immunology” Foxn1 gene regulation is crucial for thymus development but not for hair growth.
33 citations,
April 2011 in “Journal of Veterinary Internal Medicine” Long-term fluticasone treatment does not harm the immune system in horses with heaves.
2 citations,
June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
10 citations,
April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
5 citations,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
1 citations,
May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.