Review
Genetics & Heredity
Juan Luque, Ingrid Mendes, Beatriz Gomez, Beatriz Morte, Miguel Lopez de Heredia, Enrique Herreras, Virginia Corrochano, Juan Bueren, Pia Gallano, Rafael Artuch, Cristina Fillat, Luis A. Perez-Jurado, Lluis Montoliu, Angel Carracedo, Jose M. Millan, Susan M. Webb, Francesc Palau, Pablo Lapunzina
Summary: CIBERER, a thematic area of CIBER, focuses on rare disease research. It aims to facilitate collaboration between biomedical and clinical research groups and provide new tools for the diagnosis and therapy of low-prevalence diseases.
Article
Dermatology
Carlos J. Perez, Lars Mecklenburg, Almudena Fernandez, Marta Cantero, Tiago Antonio de Souza, Kevin Lin, Sharon Y. R. Dent, Lluis Montoliu, Alexander Awgulewitsch, Fernando Benavides
Summary: Loss of function mutations in the HOXC13 gene have been linked to Ectodermal Dysplasia-9, Hair/Nail Type (ECTD9). The spontaneous mouse mutation Naked (N) is identified as a terminal truncation in the Hoxc13 gene. The N/N mice exhibit generalized alopecia with abnormal nails, while N/+ mice show partial alopecia and normal lifespan, indicating a potentially dominant-negative mutation.
EXPERIMENTAL DERMATOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Antonio Alcina, Maria Fedetz, Isabel Vidal-Cobo, Eduardo Andres-Leon, Maria-Isabel Garcia-Sanchez, Alicia Barroso-del-Jesus, Sara Eichau, Elia Gil-Varea, Luisa-Maria Villar, Albert Saiz, Laura Leyva, Koen Vandenbroeck, David Otaegui, Guillermo Izquierdo, Manuel Comabella, Elena Urcelay, Fuencisla Matesanz
Summary: This study identified the rs6569648 variant as strongly associated with multiple sclerosis (MS), tagging the rs7740107 locus in the L3MBTL3 gene. Through RNA sequencing and digital PCR quantification, the study found that this variant may affect the expression and splice isoforms of L3MBTL3, potentially involving the Notch signaling pathway in the genetic mechanism underlying MS association.
HUMAN MOLECULAR GENETICS
(2022)
Article
Ophthalmology
Helen J. Kuht, Gail D. E. Maconachie, Jinu Han, Line Kessel, Maria M. van Genderen, Rebecca J. McLean, Michael Hisaund, Zhanhan Tu, Richard W. Hertle, Karen Gronskov, Dayong Bai, Aihua Wei, Wei Li, Yonghong Jiao, Vasily Smirnov, Jae-Hwan Choi, Martin D. Tobin, Viral Sheth, Ravi Purohit, Basu Dawar, Ayesha Girach, Sasha Strul, Laura May, Fred K. Chen, Rachael C. Heath Jeffery, Abdullah Aamir, Ronaldo Sano, Jing Jin, Brian P. Brooks, Susanne Kohl, Benoit Arveiler, Lluis Montoliu, Elizabeth C. Engle, Frank A. Proudlock, Garima Nishad, Prateek Pani, Girish Varma, Irene Gottlob, Mervyn G. Thomas
Summary: The purpose of this study was to characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH). The results showed that atypical FH is associated with worse visual acuity, while typical FH occurs earlier in certain genetic conditions. The genetic status and specific gene variants are also related to the severity of FH and visual acuity.
Review
Cell Biology
Franck Pichaud, Fernando Casares
Summary: The compound eye is a common eye structure in insects, offering wide fields of view, high sensitivity in motion detection, and infinite depth of field. It is composed of an array of visual units called ommatidia, which can vary in shape and size to create different insect eye shapes. The shape of the eye is determined by the shape of the eye primordium, the number of ommatidia, the size of the facet lenses, and the inter facet-lens angle.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2022)
Letter
Endocrinology & Metabolism
Miguel Paja-Fano, Alfonso Gutierrez-Macias, Maria J. Garcia-Barcina
ENDOCRINOLOGIA DIABETES Y NUTRICION
(2022)
Article
Multidisciplinary Sciences
Christopher D. R. Wyatt, Barbara Pernaute, Andre Gohr, Marta Miret-Cuesta, Lucia Goyeneche, Quirze Rovira, Marion C. Salzer, Elvan Boke, Ozren Bogdanovic, Sophie Bonnal, Manuel Irimia
Summary: Alternative splicing regulation during embryonic development leads to the production of disruptive noncanonical isoforms, especially in genes enriched for DNA damage response. Two core spliceosomal components, Snrpb and Snrpd2, regulate this process.
Article
Oncology
Nerea Lazcanoiturburu, Juan Garcia-Saez, Carlos Gonzalez-Corralejo, Cesareo Roncero, Julian Sanz, Carlos Martin-Rodriguez, M. Pilar Valdecantos, Adoracion Martinez-Palacian, Laura Almale, Paloma Bragado, Silvia Calero-Perez, Almudena Fernandez, Maria Garcia-Bravo, Carmen Guerra, Lluis Montoliu, Jose Carlos Segovia, Angela M. Valverde, Isabel Fabregat, Blanca Herrera, Aranzazu Sanchez
Summary: Inactivating EGFR signaling in the liver can reduce liver damage and promote efficient regeneration following cholestatic injury. This effect involves enhanced activation of mitogenic/survival signals and changes in cell turnover, which are associated with differences in the profile of intrahepatic immune cells.
JOURNAL OF PATHOLOGY
(2022)
Review
Ophthalmology
Reinier Bakker, Ellie L. Wagstaff, Charlotte C. Kruijt, Eszter Emri, Clara D. M. van Karnebeek, Michael B. Hoffmann, Brian P. Brooks, Camiel J. F. Boon, Lluis Montoliu, Maria M. van Genderen, Arthur A. Bergen
Summary: This article discusses the pathogenesis of albinism, proposing a genetic signaling pathway hypothesis that includes 22 human albinism disease genes and suggests that different types of albinism may be caused by different cellular defects. It provides a framework for further systematic studies in albinism and melanin pigmentation disorders.
PROGRESS IN RETINAL AND EYE RESEARCH
(2022)
Article
Oncology
Sina Sender, Ahmad Wael Sultan, Daniel Palmer, Dirk Koczan, Anett Sekora, Julia Beck, Ekkehard Schuetz, Leila Taher, Bertram Brenig, Georg Fuellen, Christian Junghanss, Hugo Murua Escobar
Summary: This study evaluated the impact of simultaneous inhibition of SYK and BET, two key regulators involved in B-cell lymphoma progression. The results showed enhanced anti-proliferative effects and a distinct gene expression profile when SYK and BET were inhibited simultaneously. This suggests that simultaneous inhibition of SYK and BET could be a promising combination therapy for B-cell lymphoma.
Article
Biology
Isabel de Rojas, Cesar Martin-Montero, Maria Fedetz, Adela Gonzalez-Jimenez, Fuencisla Matesanz, Elena Urcelay, Laura Espino-Paisan
Summary: Autoimmune diseases like multiple sclerosis are caused by a combination of environmental factors and genetic variations. Shift work, which can disrupt the circadian rhythm, has been linked to a higher risk of multiple sclerosis. Two genetic associations with multiple sclerosis risk were found in a Slavic population, but this study aimed to replicate those associations in a Spanish cohort and found no significant differences.
Article
Microbiology
Borja Alonso-Lerma, Ylenia Jabalera, Sara Samperio, Matias Morin, Almudena Fernandez, Logan T. Hille, Rachel A. Silverstein, Ane Quesada-Ganuza, Antonio Reifs, Sergio Fernandez-Penalver, Yolanda Benitez, Lucia Soletto, Jose A. Gavira, Adrian Diaz, Wim Vranken, Avencia Sanchez-Mejias, Marc Guell, Francisco J. M. Mojica, Benjamin P. Kleinstiver, Miguel A. Moreno-Pelayo, Lluis Montoliu, Raul Perez-Jimenez
Summary: Research reveals that ancient Cas9 protein from extinct bacteria exhibit significant differences in guide RNA and protospacer-adjacent motif requirements compared to modern Cas9 enzymes. Additionally, these ancient Cas9 proteins evolved from nickase to double-strand break activity, have high activity with single-stranded DNA and RNA targets, and are capable of gene editing in human cells.
NATURE MICROBIOLOGY
(2023)
Article
Biotechnology & Applied Microbiology
Belen Esquerra-Ruvira, Ignacio Baquedano, Raul Ruiz, Almudena Fernandez, Lluis Montoliu, Francisco J. M. Mojica
Summary: Non-coding RNAs (crRNAs) produced from CRISPR loci and Cas proteins interfere with the spread of genetic elements. The programmable targeting of nucleic acids by ribonucleoproteins enables the modification of DNA and RNA targets. The identification of a smaller Cas9 protein (EHCas9) associated with a new CRISPR-Cas9 system offers a simplified tool for genome editing in prokaryotes and eukaryotic cells.
MICROBIAL BIOTECHNOLOGY
(2023)
Article
Oncology
Maria D. Boyano, Aintzane Asumendi, Jose Carlos Garcia-Borron, Lluis Montoliu, Santos Alonso
PIGMENT CELL & MELANOMA RESEARCH
(2023)
Article
Biotechnology & Applied Microbiology
Alex de Mendoza, Trung Viet Nguyen, Ethan Ford, Daniel Poppe, Sam Buckberry, Jahnvi Pflueger, Matthew R. Grimmer, Sabine Stolzenburg, Ozren Bogdanovic, Alicia Oshlack, Peggy J. Farnham, Pilar Blancafort, Ryan Lister
Summary: Researchers used epigenome engineering techniques to directly test the effect of induced DNA methylation on endogenous promoters. They found that the transcriptional responses to DNA methylation were highly context-specific, and some regulatory networks could override DNA methylation. The study also demonstrated that induced DNA methylation could exist simultaneously with active histone modifications or DNA bound by RNA polymerase II.
