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Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curationNARA Subscribed
Gene-based therapies are being developed for retinal diseases, including RS1- related X-linked retinoschisis. Therefore it is essential to determine which variants are pathogenic and which are benign when enrolling patients. The Clinical Genome Resource (ClinGen) X-Linked Inherited Retinal Diseases (XLRD) Variant Curation Expert Panel (VCEP) brings together clinician scientists, molecular biologists, and geneticists to apply t...
Successful outcome of open distal interphalangeal joint luxation in equids treated by surgical debridement without internal implantsNARA Subscribed
Introduction The distal interphalangeal joint (DIPJ) plays a crucial role in the function of the hoof and digit. Dislocations and subluxations in this region are rare and primarily of traumatic origin. Case Report This case report aims to describe two unusual cases of open DIPJ dislocation, including clinical presentation, diagnostic workup, treatment, and long-term follow-up. Both animals presented with open traumatic distal...
Rays of the family Rhinopteridae Jordan & Evermann, 1896 are highly migratory and widely distributed in warm tropical and temperate waters. Along the Brazilian coast, the presence of two species has been recorded: Rhinoptera bonasus Mitchill, 1815 and Rhinoptera brasiliensis Müller, 1836. These stingrays are commonly caught as bycatch in trawl fisheries, however, the two species lack distinctive external morphological features...
Irrigation Quantity and Frequency Influence Canopy Development and Yield Stability in Potato under High-Temperature ConditionsNARA Subscribed
Potato ( Solanum tuberosum L.) production is expanding in subtropical environments where heat and irregular rainfall constrain yield. This study investigated how seasonal water input patterns and dry spells affect potato growth, yield, and quality when high temperatures occur early and late in the season. We conducted a three-year field experiment in Gujarat (India) in which we compared two irrigation quantities (full, maintai...
Background Growth differentiation factor 15 (GDF15) is a biomarker for cardiovascular diseases, and its circulating levels are altered in preeclampsia (PE), which shares mechanisms with cardiovascular diseases. Several SNPs in the GDF15 locus were associated with GDF15 levels, including the GWAS lead SNP rs888663. However, no previous study had performed a functional characterization of rs888663 nor had tested the hypothesis t...