October 2011 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Certain gene variations are significantly linked to hair loss, especially in white people.
January 2007 in “日本看護学会抄録集 成人看護1” Certain amino acids in 5AR1 and 5AR2 are crucial for binding and resistance to Finasteride.
July 2023 in “Journal of Biomedical Science” Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
75 citations
,
October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
175 citations
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August 1997 in “Nature Genetics”
2 citations
,
March 2023 in “Research Square (Research Square)” Forensic DNA phenotyping faces challenges due to inconsistent terminology, limited genetic understanding, and debates over technology and models.
10 citations
,
June 2019 in “Transplant infectious disease” The virus linked to a rare disease was found in a patient's blood and urine before skin symptoms appeared.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
2 citations
,
October 2023 in “Philosophical Transactions of the Royal Society B Biological Sciences” Different PADI isoforms help cells develop diverse functions.
May 2015 in “Journal of The American Academy of Dermatology” A heart transplant patient developed a skin condition called epidermodysplasia verruciformis after taking immune-suppressing drugs.
8 citations
,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
December 2023 in “International Journal of Dermatology”
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.
The GG genotype of the KRT71 gene leads to longer wool in Gansu alpine fine-wool sheep.
March 2024 in “EMBO molecular medicine” Antiviral drugs, especially daclatasvir, may be a new treatment for a rare skin disease, improving survival and reducing symptoms in mice.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
March 2025 in “Institutional Repositories DataBase (IRDB)” The testes significantly contribute to vitamin D metabolism and may affect male reproductive health and conditions like hair loss.
4 citations
,
July 2022 in “The Journal of Clinical Endocrinology & Metabolism” A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
Vogt–Koyanagi–Harada disease can cause rare hair growth on normally hairless thumb skin.
15 citations
,
December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
29 citations
,
February 2018 in “Genetics research international” Certain genetic variations are linked to increased androgen levels in PCOS, but more research is needed to understand these connections fully.
41 citations
,
June 2022 in “Biomedicines” PCOS should be reclassified into two types based on hormone levels and symptoms.
7 citations
,
January 2021 in “Frontiers in genetics” Inherited color dilution in rabbits is linked to DNA methylation changes.
26 citations
,
October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
4 citations
,
January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
12 citations
,
January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.