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Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy

Clinical Genetics, Volume 110, Issue 2, Page 165-171, August 2026.
A heterozygous PHB1 missense variant (p.Ser147Phe) segregates with autosomal dominant optic atrophy in a multi‐generation family. Structural and cellular analyses suggest altered mitochondrial dynamics, identifying PHB1 as a novel candidate gene for hereditary optic neuropathy. ABSTRACT Hereditary optic neuropathies comprise a genetically heterogeneous
Marija Volk +13 more
wiley +1 more source

A Proposed Clinical Diagnostic Framework for Short Telomere Syndrome

Clinical Genetics, Volume 110, Issue 2, Page 139-149, August 2026.
We propose a phenotype‐based diagnostic framework for short telomere syndrome that integrates age‐adjusted telomere length, phenotypic manifestations, and genetic findings, where available. The framework is intended to guide clinical evaluation, longitudinal surveillance, and individualized management while acknowledging limitations in current telomere
Andrew Courtwright +8 more
wiley +1 more source

DAMPAK FREE TRADE ARRANGEMENTS (FTA) TERHADAP EKONOMI MAKRO, SEKTORAL, REGIONAL, DAN DISTRIBUSI PENDAPATAN DI INDONESIA

Jurnal Ilmu Pertanian Indonesia, 2010
Indonesia's commitment to be involved in the scheme of Free Trade Agreement (FTA) is expected to bring a multiplier effect for the Indonesian economy, including sectoral, regional, and household distributional impact.
Rina Oktaviani, Widyastutik, Syarifah Amaliah +2 more
doaj

Modeling and Simulation of the Gasification of Euterpe oleracea Waste: Optimization of Hydrogen Production and Energy Potential through Operability Analysis. [PDF]