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Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

research Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

30 citations, June 2016 in “Journal of Human Genetics”

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

research Baiting Proteins with C60

106 citations, April 2010 in “ACS Nano”

C60 fullerenes can alter protein function and may help develop new disease inhibitors.

research Targeting Smoothened for Therapeutic Gain

105 citations, April 2014 in “Trends in Pharmacological Sciences”

Targeting the Smoothened receptor shows promise for treating certain cancers.