Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1 by Jessie C. Jacobsen, Emma Glamuzina, Juliet Taylor, Brendan Swan, Shona Handisides, Callum Wilson, Michael Fietz, Tessa van Dijk, Bart Appelhof, Rosamund Hill, Rosemary Marks, Donald R. Love, Stephen P. Robertson, Russell G. Snell, Klaus Lehnert

“…We describe two brothers who presented at birth with bone growth abnormalities, followed by development of increasingly severe intellectual and physical disability, growth restriction, epilepsy, and cerebellar and brain stem atrophy, but normal ocular phenotypes. Case 1 died at 19 years of age due to chronic respiratory illnesses without a unifying diagnosis. …”
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Reduced Representation Libraries from DNA Pools Analysed with Next Generation Semiconductor Based-Sequencing to Identify SNPs in Extreme and Divergent Pigs for Back Fat Thickness by Samuele Bovo, Francesca Bertolini, Giuseppina Schiavo, Gianluca Mazzoni, Stefania Dall’Olio, Luca Fontanesi

“…Some of these SNPs were close to genes involved in obesity related phenotypes.…”
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Cognitive Impairment Involving Social Cognition in SPG4 Hereditary Spastic Paraplegia by Ludivine Chamard, Sabrina Ferreira, Alexa Pijoff, Manon Silvestre, Eric Berger, Eloi Magnin

“…No correlation was found in this small sample between cognitive impairment and motor impairment, age at disease onset, or disease duration. Conclusions. SPG4 phenotypes share some cognitive features of frontotemporal lobar degeneration and amyotrophic lateral sclerosis. …”
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The Human Microglia Atlas (HuMicA) unravels changes in disease-associated microglia subsets across neurodegenerative conditions by Ricardo Martins-Ferreira, Josep Calafell-Segura, Bárbara Leal, Javier Rodríguez-Ubreva, Elena Martínez-Saez, Elisabetta Mereu, Paulo Pinho E Costa, Ariadna Laguna, Esteban Ballestar

“…The high versatility of microglia is evident through changes in subset distribution across various pathologies, suggesting their contribution in shaping pathological phenotypes. A GPNMB-high subpopulation was expanded in AD and MS. …”
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From fluorescence to biomass: A comprehensive analysis via crop modeling and sensing techniques by Georgios Ntakos, Egor Prikaziuk, Nastassia Vilfan, Tamme van der Wal, Christiaan van der Tol

“…User-friendly handheld plant phenotyping devices, such as the MultispeQ, provide quick and easy measurements that effectively capture the dynamic nature of photosynthesis. …”
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Mucosal Herpes Immunity and Immunopathology to Ocular and Genital Herpes Simplex Virus Infections by Aziz Alami Chentoufi, Lbachir BenMohamed

“…In this paper, the phenotypic and functional properties of innate and adaptive mucosal immune cells, their role in antiherpes immunity, and immunopathology are reviewed. …”
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Loss of YTHDC1 m6A reading function promotes invasiveness in urothelial carcinoma of the bladder by Jinyun Xu, Jonas Koch, Claudia Schmidt, Malin Nientiedt, Manuel Neuberger, Philipp Erben, Maurice Stephan Michel, Manuel Rodríguez-Paredes, Frank Lyko

“…Integrative analysis of multimodal sequencing datasets provided detailed insights into the molecular mechanisms mediating YTHDC1-dependent phenotypes and identified SMAD6 as a key transcript involved in the invasiveness of urothelial carcinoma of the bladder. …”
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ABO Blood Groups and Cardiovascular Diseases by Hanrui Zhang, Ciarán J. Mooney, Muredach P. Reilly

“…ABO blood groups have been associated with various disease phenotypes, particularly cardiovascular diseases. Cardiovascular diseases are the most common causes of death in developed countries and their prevalence rate is rapidly growing in developing countries. …”
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The zinc-finger transcription factor Blimp1/Prdm1 is required for uterine remodelling and repair in the mouse by Maria-Eleni Xypolita, Mubeen Goolam, Elizabeth K. Bikoff, Elizabeth J. Robertson, Arne W. Mould

“…RNA-seq together with immunostaining experiments strongly suggest that the failure to up-regulate expression of the matrix metalloprotease Mmp10 in combination with insufficient suppression of BMP signalling, likely explain Blimp1-dependent phenotypic changes. In the post-partum uterus Blimp1 together with Mmp10 are highly upregulated at sites of tissue repair following placental detachment. …”
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Synthetic augmentation of cancer cell line multi-omic datasets using unsupervised deep learning by Zhaoxiang Cai, Sofia Apolinário, Ana R. Baião, Clare Pacini, Miguel D. Sousa, Susana Vinga, Roger R. Reddel, Phillip J. Robinson, Mathew J. Garnett, Qing Zhong, Emanuel Gonçalves

“…Harnessing orthogonal multi-omic information, this model successfully generates molecular and phenotypic profiles, resulting in an increase of 32.7% in the number of multi-omic profiles and thereby generating a complete DepMap for 1523 cancer cell lines. …”
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What’s in a name? Memory NK cells for cancer immunotherapy by William J Murphy, Robert J Canter, Sean J Judge, Megan C Purl

“…Application of these cells to the clinic is progressing with promising results, but important questions remain about the essential molecular, phenotypic, and functional characteristics that define a memory NK cell.…”
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Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation by Nivedita U. Jerath, Cameron D. Crockett, Steven A. Moore, Michael E. Shy, Conrad C. Weihl, Tsui-Fen Chou, Tiffany Grider, Michael A. Gonzalez, Stephan Zuchner, Andrea Swenson

“…Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. …”
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Transcriptomic Approaches to Investigate the Anti-Aging Effects of Blueberry Anthocyanins in a Caenorhabditis Elegans Aging Model by Jie Ding, Jiahui Liu, Qingqi Guo, Na Zhang

“…This study investigates the anti-aging effects of various concentrations of blueberry anthocyanins (BA) on the lifespan and health-related phenotypes of Caenorhabditis elegans. Blueberry anthocyanins were administered at concentrations of 50.0 μg/mL, 200.0 μg/mL, and 500.0 μg/mL, and their effects on nematode lifespan, locomotion, pharyngeal pumping rate, and the accumulation of lipofuscin and reactive oxygen species (ROS) were examined. …”
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Sex differences in the relationship between body composition and MASLD progression in a murine model of metabolic syndrome by Laura Manjarrés, Aline Xavier, Leticia González, Camila Garrido, Flavia C. Zacconi, Katherine Rivera, Laura Parra, Alkystis Phinikaridou, Cecilia Besa, Marcelo E. Andia

“…Dimensionality reduction and clustering analyses identified distinct sex-specific MASLD phenotypes and progression patterns. Histological evaluations confirmed greater liver damage in males, evidenced by higher MAFLD Activity Scores. …”
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The potential endocrine-disrupting of fluorinated pesticides and molecular mechanism of EDPs in cell models by Yalan Liu, Fengzhong Wang, Lin Li, Bei Fan, Zhiqiang Kong, Jianxin Tan, Minmin Li

“…Their actions are complex, affecting behavioral substances throughout the organism, and monitoring some complex biological phenotypes, sex- or age-specific effects, and behavioral learning poses significant challenges. …”
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Synaptic Wnt/GSK3β Signaling Hub in Autism by Mario O. Caracci, Miguel E. Ávila, Giancarlo V. De Ferrari

“…Hundreds of genes have been associated with autism spectrum disorders (ASDs) and the interaction of weak and de novo variants derive from distinct autistic phenotypes thus making up the “spectrum.” The convergence of these variants in networks of genes associated with synaptic function warrants the study of cell signaling pathways involved in the regulation of the synapse. …”
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Genetic variability and association studies for yield and pre-harvest sprouting traits in greengram [Vigna radiata (L.) Wilczek] by P. J. S. Pramod1*, N. Hari Satyanarayana2, J. Sateesh Babu2, K. Jaya Lalitha3 and V. Roja4

“…Key findings indicate that hard seed percentage and alpha-amylase activity at different germination intervals are having high heritability, demonstrating genetic heritability essential for breeding strategies.​ High phenotypic variability suggests environmental influence on trait expression, especially in traits such as days to maturity and pod diameter. …”
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An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants by Bruce Nmezi, Guillermo Rodriguez Bey, Talia DeFrancesco Oranburg, Kseniia Dudnyk, Santana M. Lardo, Nathan Herdman, Anastasia Jacko, Sandy Rubio, Emanuel Loeza-Alcocer, Julia Kofler, Dongkyeong Kim, Julia Rankin, Emma Kivuva, Nicholas Gutowski, Katherine Schon, Jelle van den Ameele, Patrick F. Chinnery, Sérgio B. Sousa, Filipe Palavra, Camilo Toro, Filippo Pinto e Vairo, Jonas Saute, Lisa Pan, Murad Alturkustani, Robert Hammond, Francois Gros-Louis, Michael S. Gold, Yungki Park, Geneviève Bernard, Raili Raininko, Jian Zhou, Sarah J. Hainer, Quasar S. Padiath

“…Abstract The role of non-coding regulatory elements and how they might contribute to tissue type specificity of disease phenotypes is poorly understood. Autosomal Dominant Leukodystrophy (ADLD) is a fatal, adult-onset, neurological disorder that is characterized by extensive CNS demyelination. …”
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Red Blood Cell Alloimmunization and Autoimmunization in Blood Transfusion-Dependent Sickle Cell Disease and β-Thalassemia Patients in Al-Ahsa Region, Saudi Arabia by Fahd A. Kuriri, Abdulrahman Ahmed, Fehaid Alanazi, Fahad Alhumud, Mohammed Ageeli Hakami, Osama Atiatalla Babiker Ahmed

“…Ideally, extended matched phenotyping should be implemented to prevent alloimmunization and reduce the risk of developing blood transfusion-related alloantibodies.…”
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What have we learnt from histology about the efficacy of coronary imaging modalities in assessing plaque composition? by Nathan Angelo Lecaros Yap, Zahid Khan, Zahid Khan, Xingwei He, Jae-Geun Lee, Soe Maung, Kimberley R. Morgan, Tingquan Zhou, Helle Precht, Patrick W. Serruys, Patrick W. Serruys, Hector M. Garcia-Garcia, Yoshinobu Onuma, Sean Hynes, Sebastian Kelle, Anthony Mathur, Anthony Mathur, Andreas Baumbach, Andreas Baumbach, Christos V. Bourantas, Christos V. Bourantas

“…This review aims to provide a comprehensive evaluation of the performance of intravascular imaging in characterizing plaque phenotypes using histology as a reference standard; it summarizes the studies comparing the available invasive imaging techniques against histology, discusses the findings and limitations of these studies and highlights the potential of novel intravascular imaging approaches that were introduced for a more complete and comprehensive evaluation of plaque pathobiology.…”
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