Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay by Melanie P. Napier, Erin Ryan, Adi Reich, Joshua A. Suhl, Diane Masser-Frye, Marilyn Jones, Celese Beaudreau, Nathaniel Robin, Dana Goodloe, Leandra Folk, Michelle M. Morrow, Deanna Alexis Carere

“…Here, we provide genetic and phenotypic information for two individuals harboring de novo variants at p.Arg225 and sharing a highly similar phenotype. …”
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Phytochrome-mediated shade avoidance responses impact the structure and composition of the bacterial phyllosphere microbiome of Arabidopsis by James A. O’Rourke, Stacey A. Vincent, Isabel E. I. Williams, Eleanor L. Gascoyne, Paul F. Devlin

“…Bacteria that increased in abundance on plants with a shade-avoidance phenotype corresponded to genera associated with beneficial traits such as enhanced disease resistance and growth promotion. …”
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Intestinal Short-Chain Fatty Acids in Patients with Bronchial Asthma by O. Yu. Zolnikova, N. D. Potskhverashvili, N. I. Kokina, A. S. Trukhmanov, V. T. Ivashkin

“…The change in the metabolic profile did not depend on the phenotype of the disease.Conclusion. Changes in SCFAs indicate pronounced disorders in the microbiocenosis of the intestinal biotope. …”
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A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa by Saira Sattar, Thashi Bharadwaj, Umm-e- Kalsoom, Anushree Acharya, Saadullah Khan, Suzanne M. Leal, Isabelle Schrauwen

“…The inheritance pattern observed was consistent with a semi-dominant model, where heterozygous parents exhibited a mild phenotype, and homozygous children were more severely affected. …”
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Comparative gametogenesis and genomic signatures associated with pollen sterility in the seedless mutant of grapevine by Siddhi Chavan, Satish Phalake, Sujata Tetali, Vitthal T. Barvkar, Ravindra Patil

“…RNAseq and genome sequencing data collectively indicate parthenocarpic seedless phenotype due to aberrant developmental and physiological processes involved in pollen formation, maturation and germination in the seedless mutant of ARI 516. …”
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A transgenic mouse line with a 58 kb fragment deletion shows skeletal defects by Ahmed Alamoudi, Dina Husein, Yoshio Ohyama, Angela Chen, Hanna Mochida, Yoshiyuki Mochida

“…The aim of this study was to characterize the skeletal phenotype of the homozygous 58 kb deletion mouse (58 kb-/-). …”
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Acidovorax temperans skews neutrophil maturation and polarizes Th17 cells to promote lung adenocarcinoma development by Joshua K. Stone, Natalia von Muhlinen, Chenran Zhang, Ana I. Robles, Amy L. Flis, Eleazar Vega-Valle, Akihiko Miyanaga, Masaru Matsumoto, K. Leigh Greathouse, Tomer Cooks, Giorgio Trinchieri, Curtis C. Harris

“…Neutrophils exposed to A. temperans displayed a mature, pro-tumorigenic phenotype with increased cytokine signaling, with a global shift away from IL-1β signaling. …”
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A sex-disaggregated analysis of the prognostic value of lean type 2 diabetes mellitus in the adult population with acute myocardial infarction by Gwyneth Kong, Jaycie Koh, Jobelle Chia, Bryan Neo, Yiming Chen, Grace Cao, Bryan Chong, Mark Muthiah, Hui Wen Sim, Gavin Ng, Chieh Yang Koo, Chin Meng Khoo, Mark Yan-Yee Chan, Poay-Huan Loh, Nicholas W. S. Chew

“…Conclusions The lean T2DM phenotype was present in one-quarter of the AMI cohort with T2DM. …”
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Prognostic Factors of IVF&ICSI Cycle Cancellation in Patients with Endometriosis-Related Infertility by Elif Kulahci Aslan, Kiper Aslan, Cihan Cakir, Isil Kasapoglu, Berrin Avci, Baris Ata, Gurkan Uncu

“…Antral follicle count is the only independent factor in predicting cycle cancellation. The phenotype of endometriosis does not affect the results. …”
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HISS: Snakemake-based workflows for performing SMRT-RenSeq assembly, AgRenSeq and dRenSeq for the discovery of novel plant disease resistance genes by Thomas M. Adams, Moray Smith, Yuhan Wang, Lynn H. Brown, Micha M. Bayer, Ingo Hein

“…These workflows conduct the assembly of enriched HiFi reads from an accession with the resistance phenotype of interest. A panel of accessions both possessing and lacking the resistance are then used in an association genetics approach (AgRenSeq) to identify contigs positively associated with the resistance phenotype. …”
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Refining α-synuclein seed amplification assays to distinguish Parkinson’s disease from multiple system atrophy by James A. Wiseman, Clinton P. Turner, Richard L. M. Faull, Glenda M. Halliday, Birger Victor Dieriks

“…MSA cases yielded significantly higher values than PD cases across all four kinetic parameters in brain tissues, with the MSA-cerebellar phenotype having higher maximum relative fluorescence than the MSA-Parkinsonian phenotype. …”
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Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys) by Emma L Prehn, Mairéad Crowley, David Fennell, Brendan T Kinsley, Kevin Colclough, Maria M Byrne

“…The phenotype is variable, ranging from neonatal hyperinsulinaemic hypoglycaemia to fasting or post-prandial hypoglycaemia in adults to diabetes. …”
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Theranostic nanoemulsions suppress macrophage-mediated acute inflammation in rats by Riddhi Vichare, Yalcin Kulahci, Rebecca McCallin, Fatih Zor, Fatma Nurefsan Selek, Lu Liu, Caitlin Crelli, Anneliese Troidle, Michele Herneisey, James M. Nichols, Andrew J. Shepherd, Vijay S. Gorantla, Jelena M. Janjic

“…Macrophages infiltrate and polarize toward a pro-inflammatory phenotype (M1-like), thereby increasing the severity of inflammation. …”
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SpatialLeiden: spatially aware Leiden clustering by Niklas Müller-Bötticher, Shashwat Sahay, Roland Eils, Naveed Ishaque

“…For single-cell omics, clustering finds cells with similar molecular phenotype after which cell types are annotated. Leiden clustering is one of the algorithms of choice in the single-cell community. …”
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Hepatic Lamp2a deficiency promotes inflammation of murine autoimmune cholangitis via affecting bile acid metabolism by Qingling Fan, Guanya Guo, Yinan Hu, Yi Lu, Rui Su, Jiaqi Yang, Erzhuo Xia, Shuoyi Ma, Miao Zhang, Jingbo Wang, Ting Li, Ying Han

“…In this study, we showed that hepatic-specific Lamp2a deficiency could aggravate the inflammatory phenotype of murine autoimmune cholangitis. Mechanistically, the loss of Lamp2a in hepatocytes contributed to the abnormal accumulation of Acot8, thus altered the bile acid components, thereby enhancing the lymphocyte activities, and ultimately promoting the inflammatory phenotype of model mice. …”
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Targeting sphingosine 1-phosphate receptor 3 inhibits T-cell exhaustion and regulates recruitment of proinflammatory macrophages to improve antitumor efficacy of CAR-T cells agains... by Weiting Liao, Ge Gao, Xia He, Pei Shu, Qizhi Ma, Benxia Zhang, Diyuan Qin, Yongsheng Wang

“…Mechanistically, the S1PR3 antagonist improved CAR-T cell activation, regulated the central memory phenotype, and reduced CAR-T cell exhaustion in vitro. …”
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Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder by Ming Li, Jingqi Lin, Hongjun Fei, Jinyu Liu, Yiyao Chen, Xu Han, Yanlin Wang, Jian Wang, Renyi Hua, Shuyuan Li, Niu Li

“…An analysis of genotype-phenotype correlations indicated that our patients displayed neurological phenotypes of greater severity than those observed in patients with truncating variants, instead aligning more closely with the characteristics of the missense/in-frame variant group. …”
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Eye development under the control of SRp55/B52-mediated alternative splicing of eyeless. by Weronika Fic, François Juge, Johann Soret, Jamal Tazi

“…When over-produced in the eye imaginal disc, this isoform induces a small eye phenotype, whereas the isoform lacking the alternative exon triggers eye over-growth and strong disorganization. …”
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New opinion on the issue of proton pump inhibitor-refractory gastroesophageal reflux disease by Yu. V. Yevsyutina, A. S. Trukhmanov

“…There is a disorder of the immune response as a disbalance between cellular and humoral components of immunity at GERD, that can be determined as phenotype of macrophages (М1 or М2), and other immune and non-immune cells.Conclusion. …”
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Biology of extracellular vesicles and the potential of tumor-derived vesicles for subverting immunotherapy of cancer by Theresa L Whiteside

“…This review describes phenotypic and functional attributes of TEX that underline their reprogramming capabilities. …”
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