20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
January 2018 in “Elsevier eBooks” Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.
15 citations
,
October 1976 in “Biochemical Journal” Naked-mouse hair lacks certain proteins and has less soluble fibril.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Differences in cashmere quality between goat breeds are linked to specific genes and pathways.
23 citations
,
July 2020 in “BMC Genomics” NCBP3, SDHA, and PTPRA are the best genes for accurate goat skin research.
August 2019 in “Research Square (Research Square)” Certain long non-coding RNAs in cashmere goats affect hair growth when treated with a specific growth factor.
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.
65 citations
,
June 2003 in “EMBO journal” Noggin overexpression delays eyelid opening by affecting cell death and skin cell development.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
15 citations
,
February 2014 in “PloS one” LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
September 2020 in “Research Square (Research Square)” Certain genes influence immunoglobulin levels in Chinese Holstein cows, which can improve calf health.
Defective protein folding due to a mutation is key in ANE syndrome.
November 2022 in “Gigascience” A specific genetic deletion in goats affects cashmere yield and thickness.
2 citations
,
March 2024 in “International Journal of experimental research and review” Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.
28 citations
,
February 2010 in “Experimental Dermatology” The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
30 citations
,
June 2022 in “Animals” Key genes, including KRT39 and KRT74, influence hair length in Inner Mongolia cashmere goats.
92 citations
,
February 2005 in “Journal of Investigative Dermatology”
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
April 2026 in “BMC Genomics” Hair type differences in cashmere goats are linked to keratin and cytoskeletal organization.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Differences in cashmere quality between goat breeds are linked to specific genes affecting hair follicle development.
14 citations
,
September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
24 citations
,
November 1997 in “Journal of Biological Chemistry” Mouse high-glycine/tyrosine proteins have distinct patterns in hair follicles, peaking at specific hair cycle days.
21 citations
,
September 2003 in “Journal of Clinical Investigation” Overexpressing noggin in mice causes severe osteoporosis.
11 citations
,
January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
23 citations
,
June 1992 in “PubMed” RAR-gamma 1 is important for normal skin maintenance and differentiation.
3 citations
,
June 2017 in “Reproductive biomedicine online” A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
2 citations
,
October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
2 citations
,
December 2024 in “Journal of Cosmetic Dermatology” SNP profiling allows personalized skincare treatments for better results and fewer side effects.
73 citations
,
December 2015 in “Nature Genetics” Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.