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Physiology and Molecular Biology of Plants · 2026 · Vol. 32 · Issue 4 · Springer
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...
Molecular Neurobiology · 2026 · Vol. 63 · Issue 1 · Springer
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...
Human Genetics · 2021 · Vol. 140 · Issue 6 · Springer
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...