Article
Oncology
Melissa Javellana, Mark A. Eckert, Janna Heide, Katarzyna Zawieracz, Melanie Weigert, Sarah Ashley, Elizabeth Stock, David Chapel, Lei Huang, S. Diane Yamada, Ahmed Ashour Ahmed, Ricardo R. Lastra, Mengjie Chen, Ernst Lengyel
Summary: This study investigated the changes in the genome and transcriptome of patients with advanced high-grade serous ovarian cancer (HGSOC) receiving neoadjuvant chemotherapy. The results showed increased AP-1 activity and SIK2 copy-number amplifications in resistant ovarian cancer following chemotherapy, and demonstrated synergistic effects of AP-1 and SIK2 inhibitors with chemotherapy.
Article
Genetics & Heredity
Rachel S. Mandelbaum, Michael S. Awadalla, Meghan B. Smith, Caroline J. Violette, Brittany L. Klooster, Rachel B. Danis, Lynda K. McGinnis, Jacqueline R. Ho, Kristin A. Bendikson, Richard J. Paulson, Ali Ahmady
Summary: ICSI of immature oocytes, especially those maturing later on the day of retrieval, may improve the number of usable embryos. Older women or those with low percentages of mature oocytes may derive the highest relative benefit from the use of immature oocytes. Routine reassessment of immature oocytes for progression to MII and ICSI on day 0 is supported. An additional reassessment on day 1 may also benefit certain patient populations.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Jianlin Zeng, Jianshu Lv, Hongwei Duan, Shuai Yang, Jianxin Wu, Zhenxing Yan, Rong Zhang, Junjie Hu, Yong Zhang
Summary: The demand for economic benefits has led to an increase in the proportion of high-concentrate (HC) feed in the ruminant diet, resulting in an increased incidence of subacute ruminal acidosis (SARA). During SARA, a high concentration of lipopolysaccharide (LPS) translocated in the rumen induces a systemic inflammatory response. This study provides new evidence that SARA is a potential factor that induces systemic inflammation in ruminants.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Simar S. Bajaj, Bhav Jain, Fatima Cody Stanford
Summary: In the USA, a significant percentage of adult women are obese, which can lead to infertility issues and prompt obese women to seek in vitro fertilization (IVF) treatment. A study found that obese women undergoing controlled ovarian stimulation (COS) treatment during IVF temporarily gain weight, which may impact reproductive health.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2022)
Article
Obstetrics & Gynecology
Justine Hugon-Rodin, Alessandro Casini, Julie Benard, Antoine Poncet, Veronique Raverot, Pierre Fontana, Nicolas Vulliemoz, Isabelle Streuli
Summary: This study aimed to assess the impact of 3 different ovarian stimulation protocols on surrogate biomarkers of coagulation. The results showed that patients using the GnRH agonist trigger protocol had a lower hypercoagulable state at T3, but still had persistent high coagulation status.
FERTILITY AND STERILITY
(2023)
Article
Obstetrics & Gynecology
N. Massin, I Abdennebi, G. Porcu-Buisson, N. Chevalier, E. Descat, C. Pietin-Vialle, S. Goro, M. Brussieux, M. Pinto, M. Pasquier, H. Bry-Gauillard
Summary: This study compares the effectiveness of two treatment protocols in assisting conception for patients with poor ovarian response, and the results show that there is no significant difference in the number of oocytes retrieved between the dual ovarian stimulation in the same cycle and two consecutive antagonist cycles.
HUMAN REPRODUCTION
(2023)
Article
Endocrinology & Metabolism
Hsin-Ta Lin, Meng-Hsing Wu, Li-Chung Tsai, Ta-Sheng Chen, Huang-Tz Ou
Summary: This retrospective study found that the co-administration of clomiphene citrate and letrozole in mild ovarian stimulation may increase the ratio of high-quality oocytes and yield comparable fertilization rate and pregnancy outcomes for POSEIDON Group 4 patients.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Engineering, Biomedical
Shiman He, Shuangyuan Huang, Li Huang, Fawen Xie, Longhan Xie
Summary: This paper proposes a LiDAR-based system for hand CCFES, which uses LiDAR technology to detect the patient's motion intention without contact and quantitatively evaluate the functional electrical stimulation. Tests on healthy individuals and stroke patients show that the system holds promise for hand rehabilitation.
IEEE TRANSACTIONS ON NEURAL SYSTEMS AND REHABILITATION ENGINEERING
(2023)
Article
Neurosciences
Cosmin I. Ciotu, Katrin Kistner, Ulrich Kaindl, Flavia Millesi, Tamara Weiss, Christine Radtke, Andreas Kremer, Katy Schmidt, Michael J. M. Fischer
Summary: Signal propagation is the key function of nerves. Lysophosphatidic acid 18:1 (LPA) selectively stimulates calcium signaling in Schwann cells but not neurons. Experimental observations in mice show clear changes in axonal function, with slowing and amplitude reduction in compound action potentials due to LPA exposure. Structural investigations reveal that LPA leads to evagination of axons in rat nerves, affecting myelination and conduction velocity. These structural and functional changes might explain sensory sensations such as itch and pain.
Review
Reproductive Biology
Lingfei Li, Ling Li, Ping Li
Summary: The use of controlled ovarian stimulation drugs in assisted reproductive technologies can potentially lead to hypothyroidism by increasing serum thyrotropin levels. The specific effects on thyroid function during pregnancy vary depending on factors such as pre-pregnancy thyroid function, thyroid autoimmunity, the COS regimen, and the observation time point. The underlying pathophysiological mechanism is not yet fully understood, but it may involve increased estradiol levels and the direct effects of human chorionic gonadotropin on thyroid cells.
BIOLOGY OF REPRODUCTION
(2022)
Article
Obstetrics & Gynecology
Shuo Han, Ming-Hui Liu, Ya-Su Lv, Hai-Ying Ren, Jing Guo, Yuan Li, Shan Liu
Summary: This study found that low luteinizing hormone (LH) levels have a greater impact on endometrial function than high LH levels. By analyzing gene expression in the endometrium of patients with different LH levels, it was discovered that low LH downregulates endometrial cell metabolism, immune regulation, and autophagy, with transcription factors being the main regulators.
REPRODUCTIVE SCIENCES
(2022)
Review
Biology
Elena Campoy, Marta Puig, Illya Yakymenko, Jon Lerga-Jaso, Mario Caceres
Summary: Supergenes play important roles in adaptation in various organisms, but their understanding in humans is limited. Genomic inversions are the main mechanism for generating and maintaining supergenes. This review focuses on two large inversions that serve as potential examples of human supergenes. The highly divergent haplotypes resulting from the 17q21.31 inversion of approximately 1.5 Mb are associated with multiple phenotypic effects, including brain-related traits, blood cells, lung function, and disease risk. By analyzing gene expression and nucleotide variation data, several candidate genes, such as CRHR1, KANLS1, and MAPT, have been identified to be responsible for these phenotypes. The 8p23.1 inversion is more complex, with no clear genetic differentiation, but it is associated with related phenotypes and gene expression differences. This study contributes to the understanding of exceptional variants and highlights the importance of inversions in human genomes.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2022)
Article
Endocrinology & Metabolism
Xiaoping Liu, Huisi Mai, Panyu Chen, Zhiqiang Zhang, Taibao Wu, Jianhui Chen, Peng Sun, Chuanchuan Zhou, Xiaoyan Liang, Rui Huang
Summary: This study compared the features in granulosa cells and follicular fluid micro-environment after two different ovarian stimulation protocols in poor responders. The results showed a potential correlation between the TGF-beta signaling pathway and good-quality embryos in the mild ovarian stimulation group.
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2022)
Article
Reproductive Biology
Ozlem Bedir, Aykut Gram, Anna T. Grazul-Bilska, Mariusz P. Kowalewski
Summary: Disturbances at the conceptus-maternal interface can affect pregnancy outcome, and imbalanced nutrition can alter gene expression and uterine responsiveness to hormonal stimulation.
Article
Medicine, General & Internal
Meiyan Jiang, Chong Wang, Xiaoyang Fei, Zhenyun Lin
Summary: The case report describes a pregnancy at the end of controlled ovarian stimulation induced by GnRHa long protocol in the luteal phase, followed by follicle maturation disorder and poor embryo quality. Physicians should be cautious of premature luteinization and poor embryo quality during ovarian stimulation in such cases.
Article
Genetics & Heredity
Francisco Martinez-Granero, Elena Martinez-Cayuelas, Cristina Rodilla, Gonzalo Nunez-Moreno, Marta Rodriguez de Alba, Fiona Blanco-Kelly, Raquel Romero, Pablo Minguez, Carmen Ayuso, Isabel Lorda-Sanchez, Marta Corton, Berta Almoguera
Summary: Joubert syndrome (JS) is a clinically and genetically heterogeneous genetic disorder. We identified a novel biallelic intragenic duplication of exons 20-46 of CPLANE1 in a case of JS, which is the first report of such duplication as a potential molecular mechanism of JS. The diagnosis was confirmed by brain MRI showing the molar tooth sign, consistent with JS.
Article
Biochemistry & Molecular Biology
Alejandra Tamayo, Gonzalo Nunez-Moreno, Carolina Ruiz, Julie Plaisancie, Alejandra Damian, Jennifer Moya, Nicolas Chassaing, Patrick Calvas, Carmen Ayuso, Pablo Minguez, Marta Corton
Summary: PAX6 haploinsufficiency causes aniridia, a congenital eye disorder that involves the iris, and foveal hypoplasia. Comprehensive screening of the PAX6 locus revealed four deep-intronic variants with potential effects on pre-RNA splicing. Functional analysis using in vitro minigene splicing assays and nanopore-based long-read sequencing confirmed the impact of two variants on aberrant splicing, while the other two variants were found to have no effect on splicing. This study emphasizes the importance of integrating functional studies into diagnostic algorithms to achieve conclusive genetic diagnoses.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Marta Gil-Martinez, Clara Lorente-Sorolla, Jose M. Rodrigo-Munoz, Miguel Angel Lendinez, Gonzalo Nunez-Moreno, Lorena de la Fuente, Pablo Minguez, Ignacio Mahillo-Fernandez, Joaquin Sastre, Marcela Valverde-Monge, Santiago Quirce, Maria L. Caballero, Francisco J. Gonzalez-Barcala, Ebymar Arismendi, Irina Bobolea, Antonio Valero, Xavier Munoz, Maria Jesus Cruz, Carlos Martinez-Rivera, Vicente Plaza, Jose M. Olaguibel, Victoria del Pozo
Summary: MicroRNAs (miRNAs) are increasingly being used as biomarkers for diagnosis and treatment of various diseases. This study analyzed miRNA expression profiles in serum and lung tissue from severe asthma patients with and without oral corticosteroids (OCS) treatment. MiRNA-Seq and RT-qPCR were used for evaluation and validation of miRNA levels. Altered expression of miRNAs in serum and lung tissue was observed, with hsa-miR-221-5p and hsa-miR-769-5p showing the best differentiation between OCS-treated and untreated individuals. These miRNAs were found to be associated with important signaling pathways for asthma and regulated the expression of genes involved in these pathways. The findings suggest that miRNA profiles can serve as biomarkers for OCS treatment in asthma patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Lorena de la Fuente, Marta Del Pozo-Valero, Irene Perea-Romero, Fiona Blanco-Kelly, Lidia Fernandez-Caballero, Marta Corton, Carmen Ayuso, Pablo Minguez
Summary: Screening for pathogenic variants in rare genetic diseases has become more comprehensive with the use of whole exome and genome sequencing. However, the gene-disease associations are still not fully known. In this study, the researchers compiled functional networks and observed their varying ability to recover genes associated with different genetic diseases. They developed a network-based algorithm, GLOWgenes, which showed promising results in identifying new gene-disease associations, especially for less obvious ones.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Andrology
Rosario Lopez-Rodriguez, Javier Ruiz-Hornillos, Marta Corton, Berta Almoguera, Pablo Minguez, Maria Elena Perez-Tomas, Maria Barreda-Sanchez, Esther Mancebo, Lorena Ondo, Andrea Martinez-Ramas, Lidia Fernandez-Caballero, Juan Carlos Taracido-Fernandez, Antonio Herrero-Gonzalez, Ignacio Mahillo, Estela Paz-Artal, Encarna Guillen-Navarro, Carmen Ayuso
Summary: There is no association between the androgen receptor polyQ polymorphism and the severity of COVID-19 in male patients.
Article
Biochemistry & Molecular Biology
Cankut Cubuk, Carlos Loucera, Maria Pena-Chilet, Joaquin Dopazo
Summary: Reprogramming metabolism is a key feature of cancer, and recent research suggests that metabolites may play a crucial role in regulating signaling pathways. Mechanistic models were used to analyze the metabolic and signaling pathway activities of Breast invasive Carcinoma (BRCA), and Gaussian Processes combined with SHapley Additive exPlanations (SHAP) were employed to identify potential causal relationships between metabolite production and signaling pathway regulation. A total of 317 metabolites were found to significantly impact signaling circuits, revealing a complex crosstalk between signaling and metabolic pathways.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cell Biology
Jose Ramon Hernandez Mora, Claudia Buhigas, Stephen Clark, Raquel Del Gallego Bonilla, Dagne Daskeviciute, Ana Monteagudo-Sanchez, Maria Eugenia Poo-Llanillo, Jose Vicente Medrano, Carlos Simon, Marcos Meseguer, Gavin Kelsey, David Monk
Summary: During pre-implantation stages, stored material in mammalian development promotes epigenetic profile erasure and genome activation. Through single-cell methylome and transcriptome sequencing, we analyzed the expression and methylation in oocytes and human embryos, identifying key events in epigenetic reprogramming and genome activation. Failure to achieve these milestones negatively impacts the developmental potential of embryos and may affect the success of assisted reproductive cycles.
Article
Psychiatry
M. Alemany-Navarro, S. Diz-de Almeida, R. Cruz, J. A. Riancho, A. Rojas-Martinez, P. Lapunzina, C. Flores, A. Carracedo
Summary: Despite individual variation in the clinical presentation of COVID-19, schizophrenia patients show a higher risk and severity of the disease compared to control counterparts. The genetic risk for schizophrenia, but not for bipolar disorder or depression, is associated with a higher risk of SARS-CoV-2 infection and COVID-19 severity, especially among women. However, the predictive accuracy is limited.
TRANSLATIONAL PSYCHIATRY
(2023)
Article
Pharmacology & Pharmacy
Rocio Nunez-Torres, Guillermo Pita, Maria Pena-Chilet, Daniel Lopez-Lopez, Jorge Zamora, Gema Roldan, Belen Herraez, Nuria Alvarez, Maria Rosario Alonso, Joaquin Dopazo, Anna Gonzalez-Neira
Summary: The implementation of pharmacogenetics (PGx) is a significant milestone for achieving safer and more effective therapies in precision medicine. However, the adoption of PGx diagnostics is slow and unequal worldwide, partly due to the lack of ethnic-specific PGx information. Genetic data from 3006 Spanish individuals were analyzed, revealing allele frequencies and putative deleterious variants for main PGx genes. A comparison of high-throughput diagnostic techniques indicated that genotyping with the PGx HT array is the most suitable solution. The integrated information is made available through the Collaborative Spanish Variant Server for the scientific community.
Article
Biology
Pelin Gundogdu, Inmaculada Alamo, Isabel A. Nepomuceno-Chamorro, Joaquin Dopazo, Carlos Loucera
Summary: Single-cell data enables the study of cell dynamics at unprecedented resolution. SigPrimedNet is a data-driven solution that identifies cells and learns the functional summarization of signaling measurements.
Article
Anthropology
Signe Altmae, Abel Plaza-Florido, Francisco J. Esteban, Augusto Anguita-Ruiz, Kaarel Krjutskov, Shintaro Katayama, Elisabet Einarsdottir, Juha Kere, Shlomit Radom-Aizik, Francisco B. Ortega
Summary: This study investigates the effects of a 20-week exercise intervention on the whole-blood transcriptome profile in children with overweight/obesity. The results show that the exercise program alters the molecular pathways involved in immune processes in these children. Different genes and pathways were found to be enriched in boys and girls.
AMERICAN JOURNAL OF HUMAN BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Miriam Paya-Milans, Maria Pena-Chilet, Carlos Loucera, Marina Esteban-Medina, Joaquin Dopazo
Summary: Soft tissue sarcoma is a group of rare and difficult-to-treat cancers, and the study shows that computational analysis of gene expression data can reveal the importance of signaling pathways in patient survival. Thirteen signaling circuits were identified as predictors of patient survival, and the protective role of the immune system in the tumor microenvironment and potential therapeutic strategies were also described.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Roberto Gonzalez-Martin, Andrea Palomar, Alicia Quinonero, Nuria Pellicer, Caroline Zuckerman, Christine Whitehead, Richard T. Scott, Francisco Dominguez
Summary: In this study, the impact of phytoestrogens on IVF outcomes was investigated. Higher concentrations of phytoestrogens in follicular fluid and urine were found to be associated with improved reproductive outcomes. Additional studies are needed to optimize the use of phytoestrogens in IVF treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Virology
Carlos Loucera, Rosario Carmona, Marina Esteban-Medina, Gerrit Bostelmann, Dolores Munoyerro-Muniz, Roman Villegas, Maria Pena-Chilet, Joaquin Dopazo
Summary: This study utilized data from the Andalusian Population Health Database to investigate the relationship between prior drug consumption and patient outcomes in COVID-19. It identified 21 drugs associated with better patient survival and effectively controlled covariates.
Article
Cell Biology
Patricia Castro-Santos, Augusto Rojas-Martinez, Jose A. Riancho, Pablo Lapunzina, Carlos Flores, Angel Carracedo, Roberto Diaz-Pena, Scourge Cohort Group
Summary: We investigated the relationship between HLA polymorphisms and susceptibility to SARS-CoV-2 infection and disease severity. Genotyping data from 9373 COVID-19-positive cases and 5943 population controls were analyzed. The study found associations between HLA-B*14:02 and HLA-C*08:02 alleles with a lower risk of COVID-19 infection, and HLA-A*11:01 and HLA-C*04:01 alleles with disease severity.
