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Genomic dissection of phenological and yield-associated traits in lentil (Lens culinaris Medik.) using genome-wide association mappingNARA Subscribed
Lentil ( Lens culinaris Medik.), a nutrient-rich legume cultivated worldwide, plays a vital role in combating malnutrition and hidden hunger. Understanding the genetic architecture underlying key phenological and agronomic traits in lentil is crucial for accelerating molecular breeding. In this study, genome-wide association mapping was conducted using 142 genetically diverse lentil accessions, evaluated across two field envir...
Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic WindowNARA Subscribed
EPS8L2, encoding EPS8 signaling adaptor L2 protein, is critical for stereocilia maintenance in cochlear hair cells. Four previously published families have replicated autosomal recessive non-syndromic hearing loss (DFNB106), yet the mutational and clinical spectrum remains poorly described. This study expands the mutational and clinical spectrum of EPS8L2 -associated hearing impairment by identifying five additional individual...
Deafness, the most frequent sensory deficit in humans, is extremely heterogeneous with hundreds of genes involved. Clinical and genetic analyses of an extended consanguineous family with pre-lingual, moderate-to-profound autosomal recessive sensorineural hearing loss, allowed us to identify CLRN2, encoding a tetraspan protein, as a new deafness gene. Homozygosity mapping followed by exome sequencing identified a 14.96 Mb locus...