35 citations
,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
32 citations
,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
32 citations
,
April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of keratin K2 causes skin problems and inflammation.
31 citations
,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
31 citations
,
June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
30 citations
,
October 2020 in “Nature Communications” Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.
30 citations
,
June 2019 in “Frontiers in Endocrinology” The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.
29 citations
,
October 2016 in “Cell death and differentiation” ΔNp63α stops TAp73β from working in skin cancer by blocking its access to specific genes, not by directly interacting with it.
29 citations
,
December 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
29 citations
,
January 2010 in “Methods in Enzymology” The document concludes that careful design of genetic fate mapping experiments is crucial for accurate cell lineage tracing in mice.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
27 citations
,
April 2020 in “Molecular Biology and Evolution” Ancient Chinese goats evolved cashmere-producing traits due to selective breeding, particularly in genes affecting hair growth.
27 citations
,
July 2017 in “Scientific Reports” N-WASP is essential for healthy skin and preventing inflammation.
27 citations
,
August 2014 in “Wiley interdisciplinary reviews. Developmental biology” The skin and thymus develop similarly to protect and support immunity.
27 citations
,
January 2012 in “Current Topics in Microbiology and Immunology” Mice that can regenerate tissue have cells that pause in the cell cycle, which is important for healing, similar to axolotls.
27 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
26 citations
,
February 2020 in “Frontiers in genetics” The CORT, FGF5, and CD36 genes are crucial for the cold weather adaptation of Yanbian cattle.
26 citations
,
June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
26 citations
,
October 2014 in “Andrologia” Infertile men are more likely to produce sperm with abnormal chromosome numbers, which can affect pregnancy success and embryo health.
24 citations
,
January 2021 in “Physiological Research” Testosterone affects brain functions and contributes to sex differences, influencing conditions like autism.
24 citations
,
October 2017 in “Biomolecules” Some growth factors, while important for normal body functions, can cause diseases when not regulated properly.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
23 citations
,
May 2020 in “Cell Death and Disease” Blocking the FGF5 gene in sheep leads to more fine wool and active hair follicles due to changes in certain cell signaling pathways.
23 citations
,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
20 citations
,
March 2022 in “The AMA Journal of Ethic” Educators and publishers should focus on teaching racism as the cause of health inequity and ensure fair use of race in materials.
20 citations
,
September 2021 in “Nature communications” Cat color patterns are determined early in development by gene expression and epidermal changes, with the Dickkopf 4 gene playing a crucial role.
20 citations
,
July 2017 in “Scientific Reports” A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
19 citations
,
January 2015 in “Scientific Reports” GPR39 is linked to certain cells in the sebaceous gland and helps with skin healing.
18 citations
,
June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” A gene called Gk5 controls lipid production in the skin and affects hair growth.