9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
14 citations
,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
February 2025 in “Archives animal breeding/Archiv für Tierzucht” miRNA-211 reduces melanin in Cashmere goats by suppressing AP1S2.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Key genes affect cashmere quality differences between Jiangnan and Changthangi goats.
39 citations
,
January 2020 in “Frontiers in Genetics” PDGFC gene may help select goats with desirable curly wool traits.
Metabolic processes and key genes like FGF5, FGFR1, and RRAS significantly affect hair follicle growth in Inner Mongolian Cashmere goats.
60 citations
,
January 2021 in “BMC Genomics” The study mapped genetic variations in sheep, linking them to traits like milk production and growth.
December 2024 in “European journal of medical research” 6 citations
,
March 2024 in “Journal of Clinical Laboratory Analysis” Certain genetic variations in IGF2BP2 and IGFBP3 are linked to a higher risk of PCOS.
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
55 citations
,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
8 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
3 citations
,
September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
January 2026 in “Scientific Reports” PCOS involves immune and genetic factors, with key roles for T cells and specific genes.
September 2023 in “Animals” Genes linked to wool fineness in sheep have been identified.
6 citations
,
May 1997 in “Journal of Dermatological Science” Researchers found a gene in hamsters that responds to male hormones and may be indirectly controlled by them.
September 2024 in “Frontiers in Genetics” A specific genetic marker is linked to male pattern baldness in Han Chinese men.
49 citations
,
January 2006 in “Developmental Dynamics” Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
9 citations
,
February 2002 in “PubMed” A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
6 citations
,
December 2022 in “Journal of Infection” The ACE1 gene variant doesn't affect long-COVID symptoms.
123 citations
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November 2012 in “Stem cells” MicroRNA-302 helps improve the conversion of body cells into stem cells by blocking NR2F2.
February 2026 in “Advanced Science” Targeting the p300/AR axis may help treat polycystic ovary syndrome.
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
36 citations
,
January 2021 in “Scientific Reports” Key genes and pathways, including Wnt, NF-Kappa, and JAK-STAT, are crucial for starting Pashmina fiber growth in goats.
14 citations
,
January 2024 in “Theranostics” Intranasal delivery of gene therapy shows promise for treating ischemic stroke.