Abstract Earlier phylogenetic analyses of the family Thymelaeaceae using combined plastid (matK, rbcL, rps16, trnL‐F) and nuclear (ITS) regions showed that the African‐Malagasy genus Gnidia was extensively polyphyletic in relation to the southern African genera Lachnaea, Passerina and Struthiola, as well as to other Southern Hemisphere genera such as ...
Oluwayemisi D. Olaniyan +4 more
wiley +1 more source
Abstract Long‐distance aeolian dust transport represents one of the largest sediment fluxes on Earth, with North Africa being a dominant source. The island of Crete in the Eastern Mediterranean lies within major transport pathways but remains underexplored regarding multi‐proxy fingerprinting of deposited dust.
S. Bitzan +5 more
wiley +1 more source
Phenotypic Expansion and Molecular Implications in Recessive FUZ ‐Related Ciliopathy
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa +4 more
wiley +1 more source
Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy
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
This study describes the clinical heterogeneity of Brazilian patients with 5q spinal muscular atrophy types 2 and 3, highlighting prolonged diagnostic delays and the impact of disease duration on motor function. Early genetic diagnosis and access to multidisciplinary care are crucial to preserve functional outcomes.
Elice Carneiro Batista +31 more
wiley +1 more source
A Proposed Clinical Diagnostic Framework for Short Telomere Syndrome
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
Developmental Trajectories and Sequential Analysis of Triadic Joint Attention
ABSTRACT Triadic joint attention (JA) refers to the shared focus of a child and an interlocutor on an object or event, accompanied by mutual awareness of this shared attention. Although JA is associated with early social interaction and later language development, its definitions and behavioral markers vary across studies and are often restricted to ...
Tove Nilsson Gerholm +2 more
wiley +1 more source
Effective photocatalytic and antibacterial nanomembranes from a GO-grafted dapsone-incorporated chitosan/gelatin blend for enhancing the removal of toxic dyes from wastewater. [PDF]
Moustafa H +3 more
europepmc +1 more source
Modeling and Simulation of the Gasification of <i>Euterpe oleracea</i> Waste: Optimization of Hydrogen Production and Energy Potential through Operability Analysis. [PDF]
Musial CM +6 more
europepmc +1 more source
Targeting notch signaling to restore neural development and behavior in mouse models of ASD. [PDF]
Hanno Y +13 more
europepmc +1 more source

