11 citations
,
April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
February 2026 in “Pediatric Dermatology” 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.
308 citations
,
September 2010 in “Nucleic acids research” Increasing mir-302 turns human hair cells into stem cells by changing gene regulation and demethylation.
29 citations
,
February 1989 in “Journal of Cutaneous Pathology” A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.
1 citations
,
December 2018 in “Journal of cutaneous pathology” Some skin growths with mucin can form hair follicles and resemble skin cancer, but a special stain can help tell them apart.
26 citations
,
April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
94 citations
,
April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
48 citations
,
October 2004 in “Molecular and Cellular Biology” Mice with a specific BRCA1 mutation have a higher risk of tumors, especially in the uterus and ovaries.
3 citations
,
May 2025 in “Journal of Ovarian Research” m6A deregulation plays a key role in PCOS and could lead to new treatments.
April 2019 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” PCOS shares similar genetic traits across different diagnosis criteria and is linked to other health conditions.
42 citations
,
December 2016 in “Cell Death & Differentiation” Damaging mitochondrial DNA in mice speeds up aging due to increased reactive oxygen species, not through the p53/p21 pathway.
1 citations
,
January 2020 in “Research Square (Research Square)” Inherited color dilution in Rex rabbits is linked to DNA methylation changes in hair follicles.
September 1997 in “Clinical and Experimental Dermatology” September 2024 in “Dermatologica Sinica” Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.
2 citations
,
April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
7 citations
,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
46 citations
,
December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
1 citations
,
October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
94 citations
,
October 1994 in “The Journal of Cell Biology” Too much keratin 16 in mice skin causes abnormal skin thickening and structure.
14 citations
,
March 2020 in “Cold Spring Harbor Perspectives in Biology” Mouse spermatogenesis shows that stem cells can behave flexibly and move widely in open environments.
7 citations
,
August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
47 citations
,
July 2023 in “Nature Genetics” Researchers created a new mouse model, G4, that mimics human PCOS symptoms and links the condition to a specific gene.
2 citations
,
August 2023 in “Development” Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
2 citations
,
December 2022 in “Scientific Data” The study maps how genes are regulated during mouse hair growth.
49 citations
,
August 1999 in “Journal of Investigative Dermatology” Overexpressing the MSX-2 gene in mice causes skin and hair growth issues.
15 citations
,
December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.