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.
13 citations
,
October 2010 in “Pharmacogenomics” Researchers found that most genes affecting drug responses are not fully covered by commercial SNP chips, suggesting the need for more comprehensive tools to optimize drug selection based on genetics.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
260 citations
,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
February 2024 in “Research Square (Research Square)” The research suggests that SFRP2 and PTGDS proteins might be indicators of female pattern hair loss and could contribute to hair loss.
6 citations
,
December 2022 in “Journal of Infection” The ACE1 gene variant doesn't affect long-COVID symptoms.
18 citations
,
November 1994 in “Histochemical Journal” The enzyme PST is found in developing human kidneys and helps with detoxification and development.
210 citations
,
February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
70 citations
,
April 2014 in “Annales d'endocrinologie” New genes and pathways are important for testosterone production and male sexual development.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Differences in cashmere quality between goat breeds are linked to specific genes and pathways.
February 2026 in “Small Ruminant Research” The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
July 2024 in “New Phytologist” PDF2 senses specific lipids and regulates root growth and gene expression in Arabidopsis.
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.
16 citations
,
April 2018 in “Animal Genetics” Researchers found two genes that may explain why some Casertana pigs don't have hair.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Cashmere quality differences between goat breeds are linked to specific genes and pathways.
5 citations
,
June 2008 in “British Journal of Dermatology” 3 citations
,
October 2021 in “The Application of Clinical Genetics” Certain gene changes in osteopontin are linked to higher risk of atopic dermatitis and asthma.
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
5 citations
,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
28 citations
,
February 2010 in “Experimental Dermatology” The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
2 citations
,
August 2023 in “Die Dermatologie” Genetic mutations affecting DNA repair cause early aging symptoms in progeroid syndromes.
2 citations
,
April 2025 in “Frontiers in Genetics” The ASIP gene is crucial for determining cattle coat color.
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
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.
2 citations
,
October 2012 in “Experimental Dermatology” Deleting the Sox21 gene changes hair lipid composition and increases cholesterol sulfate levels.
16 citations
,
November 2024 in “Human Genetics and Genomics Advances” Nociplastic pain is a complex, heritable trait with genetic links to chronic and neuropathic pain.
51 citations
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December 2006 in “Mammalian Genome”