Explanipedia

Genetic determinants of micronucleus formation in vivo Open

David J. Adams, B. Barlas, R. E. McIntyre, Israel Salguero, Louise van der Weyden , et al. · 2024

Genomic instability arising from defective responses to DNA damage 1 or mitotic chromosomal imbalances 2 can lead to the sequestration of DNA in aberrant extranuclear structures called micronuclei (MN). Although MN are a hallmark of ageing…

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse Open

Anne‐Sophie Denommé‐Pichon, Stephan C. Collins, Ange‐Line Bruel, Anna Mikhaleva, Christel Wagner , et al. · 2023

Characterization of Two Mouse Chd7 Heterozygous Loss-of-Function Models Shows Dysgenesis of the Corpus Callosum and Previously Unreported Features of CHARGE Syndrome Open

Stephan C. Collins, Valerie E. Vancollie, Anna Mikhaleva, Christel Wagner, Rebecca Balz , et al. · 2022

CHARGE syndrome is a rare congenital disorder frequently caused by mutations in the chromodomain helicase DNA-binding protein-7 CHD7. Here, we developed and systematically characterized two genetic mouse models with identical, heterozygous…

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice Open

Lettie E. Rawlins, Hashem Almousa, Shazia Khan, Stephan C. Collins, Miroslav P. Milev , et al. · 2022

The highly evolutionarily conserved transport protein particle (TRAPP) complexes (TRAPP II and III) perform fundamental roles in subcellular trafficking pathways. Here we identified biallelic variants in TRAPPC10 , a component of the TRAPP…

PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies Open

Ahmed H. Al-Amri, Paul Armstrong, Mascia Amici, Clémence Ligneul, James Rouse , et al. · 2022

A Positively Selected <i>MAGEE2</i> LoF Allele Is Associated with Sexual Dimorphism in Human Brain Size and Shows Similar Phenotypes in <i>Magee2</i> Null Mice Open

Michał Szpak, Stephan C. Collins, Yan Li, Xiao Liu, Qasim Ayub , et al. · 2021

A nonsense allele at rs1343879 in human MAGEE2 on chromosome X has previously been reported as a strong candidate for positive selection in East Asia. This premature stop codon causing ∼80% protein truncation is characterized by a striking…

Publisher Correction: Accelerating functional gene discovery in osteoarthritis Open

Natalie C. Butterfield, Katherine F. Curry, Julia Steinberg, Hannah F. Dewhurst, Davide Komla‐Ebri , et al. · 2021

Accelerating functional gene discovery in osteoarthritis Open

Natalie C. Butterfield, Katherine F. Curry, Julia Steinberg, Hannah F. Dewhurst, Davide Komla‐Ebri , et al. · 2021

Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth Open

Médéric Jeanne, Marie‐Laure Vuillaume, Dévina C. Ung, Valerie E. Vancollie, Christel Wagner , et al. · 2021

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects Open

Anna R. Duncan, Antonio Vitobello, Stephan C. Collins, Valerie E. Vancollie, Christopher J. Lelliott , et al. · 2020

Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity Open

Zhengzheng Liang, Irène Cimino, Binnaz Yalcin, Narayanan Raghupathy, Valerie E. Vancollie , et al. · 2020

Some imprinted genes exhibit parental origin specific expression bias rather than being transcribed exclusively from one copy. The physiological relevance of this remains poorly understood. In an analysis of brain-specific allele-biased ex…

Accelerating functional gene discovery in osteoarthritis Open

Natalie C. Butterfield, Katherine F. Curry, Julia Steinberg, Hannah F. Dewhurst, Davide Komla‐Ebri , et al. · 2019

Osteoarthritis causes debilitating pain and disability, resulting in a huge socioeconomic burden, yet no drugs are available that prevent disease onset or progression. Here, we develop, validate and use rapid-throughput imaging techniques …

Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis Open

Stephan C. Collins, Anna Mikhaleva, Katarina Vrcelj, Valerie E. Vancollie, Christel Wagner , et al. · 2019

Mouse screen reveals multiple new genes underlying mouse and human hearing loss Open

Neil J. Ingham, Selina Pearson, Valerie E. Vancollie, Victoria Rook, Morag A. Lewis , et al. · 2019

Adult-onset hearing loss is very common, but we know little about the underlying molecular pathogenesis impeding the development of therapies. We took a genetic approach to identify new molecules involved in hearing loss by screening a lar…

Author Correction: Identification of genes required for eye development by high-throughput screening of mouse knockouts Open

Bret A. Moore, Brian C. Leonard, Lionel Sebbag, Sydney Edwards, Ann Cooper , et al. · 2019

Identification of genes required for eye development by high-throughput screening of mouse knockouts Open

Bret A. Moore, Brian C. Leonard, Lionel Sebbag, Sydney Edwards, Ann Cooper , et al. · 2018

Targeting of NAT10 enhances healthspan in a mouse model of human accelerated aging syndrome Open

Gabriel Balmus, Delphine Larrieu, Ana C. Barros, Casey Collins, Monica Abrudan , et al. · 2018

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, but devastating genetic disease characterized by segmental premature aging, with cardiovascular disease being the main cause of death. Cells from HGPS patients accumulate progerin, a p…

Myosin 10 is involved in murine pigmentation Open

Kifayathullah Liakath‐Ali, Valerie E. Vancollie, Inês Sequeira, Christopher J. Lelliott, Fiona M. Watt · 2018

Myosins are molecular motors that are well known for their role in cell movement and contractile functions. Although extensively studied in muscle physiology, little is known about the function of myosins in mammalian skin. As part of the …

Identification of genetic elements in metabolism by high-throughput mouse phenotyping Open

Jan Rozman, Birgit Rathkolb, Manuela A. Oestereicher, Christine Schütt, Aakash Chavan Ravindranath , et al. · 2018

Metabolic diseases are a worldwide problem but the underlying genetic factors and their relevance to metabolic disease remain incompletely understood. Genome-wide research is needed to characterize so-far unannotated mammalian metabolic ge…

WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy Open

Meghna Kannan, Efil Bayam, Christel Wagner, Bruno Rinaldi, Perrine F. Kretz , et al. · 2017

Significance We present an identification of the relevance of WD40-repeat (WDR) genes in brain connectivity, highlighting the power of unbiased mouse studies in the field of neuroscience. We focus on the poorly studied WDR47 protein sharin…

Alkaline ceramidase 1 is essential for mammalian skin homeostasis and regulating whole‐body energy expenditure Open

Kifayathullah Liakath‐Ali, Valerie E. Vancollie, Christopher J. Lelliott, Anneliese O. Speak, David Lafont , et al. · 2016

The epidermis is the outermost layer of skin that acts as a barrier to protect the body from the external environment and to control water and heat loss. This barrier function is established through the multistage differentiation of kerati…

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