1 citations
,
June 2025 in “Pigment Cell & Melanoma Research” SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
3 citations
,
May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
10 citations
,
September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
45 citations
,
March 1997 in “Journal of Investigative Dermatology” 25 citations
,
April 2019 in “Animals” KRTAP28-1 gene can help breed sheep with finer wool.
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.
69 citations
,
January 2013 in “Frontiers in Immunology” The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
1 citations
,
January 2025 in “medRxiv” Trichotillomania may have a genetic link to psychiatric disorders.
1 citations
,
January 2012 The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
2 citations
,
January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The article concludes that creating a detailed map of normal human skin at the single-cell level is important.
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
2 citations
,
October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
17 citations
,
August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
30 citations
,
January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
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.
83 citations
,
October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
245 citations
,
January 1998 in “Genes & Development” Hoxc13 gene is essential for hair, nail, and papilla development.
1 citations
,
January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
1 citations
,
August 2025 in “Genes” Genetic markers linked to sheep body traits were identified, aiding future breeding.
13 citations
,
July 2024 in “BMC Genomics” New genes and markers can help breed better cashmere goats.
A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.
26 citations
,
December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Researchers found three types of melanocytes in developing mouse skin, each with different genes and locations.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
February 2024 in “New phytologist” DNA changes in tetraploid wheat improve root growth and nitrogen use.
6 citations
,
July 2023 in “Nature cell biology” SOX9 helps determine stem cell roles by interacting with DNA and proteins that control gene activity.
13 citations
,
September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
22 citations
,
June 2020 in “iScience” Sox21 is crucial for tooth development and enamel formation by preventing cells from changing into a different type.