Explanipedia

Transgressive segregation affects essential oil composition in a model mint population Open

B. Markus Lange, Amber N. Parrish, Iris Lange, Yanmei Xiao, Iovanna Pandelova , et al. · 2025

LIMK1 variants are associated with divergent endocrinological phenotypes and altered exocytosis dynamics Open

Irena Muffels, Theodore Carter, Holger Rehmann, Sebastiaan J. Vastert, A. A. Verrijn Stuart , et al. · 2025

LIM kinase 1 (LIMK1) plays a pivotal role in dynamic actin remodeling through phosphorylation of cofilin, thereby regulating exocytosis. We report two individuals harboring LIMK1 de novo variants with dissimilar phenotypes: one exhi…

A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib Open

Boutaina Boulouadnine, Mathilde Filser, Camille Leducq, Taylor Losole, Juraj Bies , et al. · 2024

Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey Open

Jasper J. van der Smagt, Angeliki P. Lampri, Iris Lange, Mariëlle Alders, Michiel L. Houben , et al. · 2024

Variation in the non-coding genome is being increasingly recognized to be involved in monogenic disease etiology. However, the interpretation of non-coding variation is complicated by a lack of understanding of how non-coding genetic eleme…

Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies Open

D.S. Gallagher, Eduardo Pérez‐Palma, Tobias Bruenger, Ismael Ghanty, Eva H. Brilstra , et al. · 2024

Objective SCN1A variants are associated with epilepsy syndromes ranging from mild genetic epilepsy with febrile seizures plus (GEFS+) to severe Dravet syndrome (DS). Many variants are de novo, making early phenotype prediction difficult, a…

Characterization of a Unique Pair of Ferredoxin and Ferredoxin NADP+ Reductase Isoforms That Operates in Non-Photosynthetic Glandular Trichomes Open

Joshua T. Polito, Iris Lange, Kaylie E. Barton, Narayanan Srividya, B. Markus Lange · 2024

Our recent investigations indicated that isoforms of ferredoxin (Fd) and ferredoxin NADP+ reductase (FNR) play essential roles for the reductive steps of the 2C-methyl-D-erythritol 4-phosphate (MEP) pathway of terpenoid biosynthesis in pep…

Sex‐specific cardiovascular protein levels and their link with clinical outcome in heart failure Open

Marie de Bakker, Mylène Loncq de Jong, Teun B. Petersen, Iris Lange, K. Martijn Akkerhuis , et al. · 2023

Aims This study aims to provide insight into sex‐specific cardiovascular protein profiles and their associations with adverse outcomes, which may contribute to a better understanding of heart failure (HF) pathophysiology and the optimal us…

ARF1-related disorder: phenotypic and molecular spectrum Open

Jean‐Madeleine de Sainte Agathe, Ben Pode‐Shakked, Sophie Naudion, Vincent Michaud, Benoı̂t Arveiler , et al. · 2023

Purpose ARF1 was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of th…

Biochemical basis for the formation of organ-specific volatile blends in mint Open

B. Markus Lange, Narayanan Srividya, Iris Lange, Amber N. Parrish, Lukas R. Benzenberg , et al. · 2023

Above-ground material of members of the mint family is commercially distilled to extract essential oils, which are then formulated into a myriad of consumer products. Most of the research aimed at characterizing the processes involved in t…

Heart failure subphenotypes based on repeated biomarker measurements are associated with clinical characteristics and adverse events (Bio-SHiFT study) Open

Iris Lange, Teun B. Petersen, Marie de Bakker, K. Martijn Akkerhuis, Jasper J. Brugts , et al. · 2022

Determinants of Selectivity for the Formation of Monocyclic and Bicyclic Products in Monoterpene Synthases Open

Ho Shin Kim, Narayanan Srividya, Iris Lange, Eden W. Huchala, Bojana Ginovska , et al. · 2022

Monoterpene synthases (MTSs) catalyze the initial committed step in the biosynthesis of monoterpenes. MTSs control challenging reactions that involve highly reactive carbocations through exquisite steric and electrostatic confinement, in s…

Chromosome-level genome assembly of Mentha longifolia L. reveals gene organization underlying disease resistance and essential oil traits Open

Kelly Vining, Iovanna Pandelova, Iris Lange, Amber N. Parrish, Andrew J. Lefors , et al. · 2022

Mentha longifolia (L.) Huds., a wild, diploid mint species, has been developed as a model for mint genetic and genomic research to aid breeding efforts that target Verticillium wilt disease resistance and essential oil monoterpene composit…

Differential Accumulation of Metabolites and Transcripts Related to Flavonoid, Styrylpyrone, and Galactolipid Biosynthesis in Equisetum Species and Tissue Types Open

Amber N. Parrish, Iris Lange, Dunja Šamec, B. Markus Lange · 2022

Three species of the genus Equisetum (E. arvense, E. hyemale, and E. telmateia) were selected for an analysis of chemical diversity in an ancient land plant lineage. Principal component analysis of metabolomics data obtained with above-gro…

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome Open

Marco Angelozzi, Anirudha Karvande, Arnaud Molin, Alyssa Ritter, Jacqueline Leonard , et al. · 2022

Background A neurodevelopmental syndrome was recently reported in four patients with SOX4 heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical and genetic knowl…

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A -Related Epilepsies Open

Andreas Brunklaus, Eduardo Pérez‐Palma, Ismael Ghanty, Xinge Ji, Eva H. Brilstra , et al. · 2022

This study provides Class II evidence that a combined SCN1A genetic score and seizure onset model distinguishes Dravet syndrome from other GEFS+ phenotypes.

Corrigendum: Functional Characterization and Structural Insights Into Stereoselectivity of Pulegone Reductase in Menthol Biosynthesis Open

Chanchan Liu, Qiyu Gao, Zhuo Shang, Jian Li, Siwei Zhou , et al. · 2022

[This corrects the article DOI: 10.3389/fpls.2021.780970.].

Functional Characterization and Structural Insights Into Stereoselectivity of Pulegone Reductase in Menthol Biosynthesis Open

Chanchan Liu, Qiyu Gao, Zhuo Shang, Jian Li, Siwei Zhou , et al. · 2021

Monoterpenoids are the main components of plant essential oils and the active components of some traditional Chinese medicinal herbs like Mentha haplocalyx Briq ., Nepeta tenuifolia Briq ., Perilla frutescens (L.) Britt and Pogostemin cabl…

Selectivity of enzymes involved in the formation of opposite enantiomeric series of p-menthane monoterpenoids in peppermint and Japanese catnip Open

Narayanan Srividya, Iris Lange, Jana K. Richter, Matthias Wüst, B. Markus Lange · 2021

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia Open

Alison M. Muir, Jennifer F. Gardner, Richard H. van Jaarsveld, Iris Lange, Jasper J. van der Smagt , et al. · 2021

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns Open

Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Bertelsen , et al. · 2020

Organ-specificity of sterol and triterpene accumulation inArabidopsis thaliana Open

B. Markus Lange, Brenton Poirier, Iris Lange, Richard Schumaker, Rigoberto Ríos‐Estepa · 2020

Sterols serve essential functions as membrane constituents and hormones (brassinosteroids) in plants, while non-sterol triterpenoids have been implicated in defense responses. Surprisingly little is known about the sterol and triterpene pr…

Biochemical characterization of acyl activating enzymes for side chain moieties of Taxol and its analogs Open

Narayanan Srividya, Iris Lange, Michael Hartmann, Qunrui Li, Maryam Mirzaei , et al. · 2020

Taxol (paclitaxel) is a very widely used anticancer drug, but its commercial sources mainly consist of stripped bark or suspension cultures of members of the plant genus Taxus. Taxol accumulates as part of a complex mixture of chemical ana…

Modifier genes in SCN1A‐related epilepsy syndromes Open

Iris Lange, Flip Mulder, Ruben van ’t Slot, Anja C. M. Sonsma, Marjan J. A. van Kempen , et al. · 2020

Background SCN1A is one of the most important epilepsy‐related genes, with pathogenic variants leading to a range of phenotypes with varying disease severity. Different modifying factors have been hypothesized to influence SCN1A ‐related p…

Metabolic shifts associated with drought-induced senescence in Brachypodium Open

Amir Ahkami, Wenzhi Wang, Thomas Wietsma, Tanya Winkler, Iris Lange , et al. · 2019

Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes Open

Iris Lange, Wout J. Weuring, Ruben van ’t Slot, Boudewijn Gunning, Anja C. M. Sonsma , et al. · 2019

Background Pathogenic variants in SCN1A cause variable epilepsy disorders with different disease severities. We here investigate whether common variation in the promoter region of the unaffected SCN1A allele could reduce normal expression,…

Gene Networks Underlying Cannabinoid and Terpenoid Accumulation in Cannabis Open

Jordan J. Zager, Iris Lange, Narayanan Srividya, Anthony Smith, B. Markus Lange · 2019

Glandular trichomes are specialized anatomical structures that accumulate secretions with important biological roles in plant-environment interactions. These secretions also have commercial uses in the flavor, fragrance, and pharmaceutical…

Determinants of variable disease severity in SCN1A-related phenotypes and X-chromosomal epilepsy syndromes Open

Iris Lange · 2019

Dravet syndrome Dravet syndrome is one of the most well-known genetic epilepsy syndromes. The main characteristics of the disease are early onset intractable epileptic seizures in the first year of life, accompanied by a delayed psychomoto…

Outcomes and comorbidities of SCN1A-related seizure disorders Open

Iris Lange, Boudewijn Gunning, Anja C. M. Sonsma, Lisette van Gemert, Marjan van Kempen , et al. · 2018

Severe behavioral problems and walking disabilities are common in patients with Dravet syndrome and should receive specific attention during clinical management. Although the epilepsy course of patients with non-Dravet syndromes is much mo…

Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing Open

Iris Lange, Marco J. Koudijs, Ruben van ’t Slot, Anja C. M. Sonsma, Flip Mulder , et al. · 2018

Background Dravet syndrome is a severe genetic encephalopathy, caused by pathogenic variants in SCN1A. Low-grade parental mosaicism occurs in a substantial proportion of families (7%–13%) and has important implications for recurrence risks…

Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A‐related seizure phenotypes Open

Iris Lange, Boudewijn Gunning, Anja C. M. Sonsma, Lisette van Gemert, Marjan van Kempen , et al. · 2018

Summary Objective Pathogenic variants in SCN 1A can give rise to extremely variable disease severities that may be indistinguishable at their first presentation. We aim to find clinical features that can help predict the evolution of seizu…

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