3 citations
,
December 2013 in “Balkan Journal of Medical Genetics” This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.
24 citations
,
October 2019 in “Genes” In this study, the identification of a novel KAP gene in sheep, named KRTAP36-1, was associated with increased prickle factor in wool, suggesting its potential as a genetic marker for breeding purposes.
287 citations
,
July 2001 in “Journal of Cell Science” This study mapped 65 intermediate filament genes in the human genome, highlighting that the majority of keratin-related sequences are inactive pseudogenes, notably for keratins 8 and 18.
This study conducted a genome-wide association analysis on 1,125 ewes and identified 24 SNPs associated with wool production traits, and highlighted potential candidate genes like ADAR and TP53 for further research into the genetic mechanisms influencing wool growth in sheep.
210 citations
,
February 2008 in “Nature genetics” This study found mutations in the P2RY5 gene that are linked to autosomal recessive woolly hair in Pakistani families, implicating it in hair texture determination.
