Ramiro Ramírez‐Solis
A5025226931- CRISPR and Genetic Engineering
- Animal Genetics and Reproduction
- Pluripotent Stem Cells Research
- RNA and protein synthesis mechanisms
- Epigenetics and DNA Methylation
- Renal and related cancers
- Molecular Biology Techniques and Applications
- Single-cell and spatial transcriptomics
- Bioinformatics and Genomic Networks
- Genomics and Chromatin Dynamics
- DNA Repair Mechanisms
- RNA modifications and cancer
- Genetic Associations and Epidemiology
- RNA Research and Splicing
- Congenital heart defects research
- Viral Infectious Diseases and Gene Expression in Insects
- Developmental Biology and Gene Regulation
- Cell Image Analysis Techniques
- Ubiquitin and proteasome pathways
- RNA regulation and disease
- Adipose Tissue and Metabolism
- Environmental DNA in Biodiversity Studies
- Ion Transport and Channel Regulation
- Animal testing and alternatives
- Genetics, Bioinformatics, and Biomedical Research
Wellcome Sanger Institute
2014-2024
The University of Texas Health Science Center at San Antonio
2019-2024
The University of Texas Health Science Center at Houston
2024
Helmholtz Zentrum München
2017
German Center for Neurodegenerative Diseases
2017
Technical University of Munich
2017
Munich Cluster for Systems Neurology
2017
Emory University
2017
Institute of Cell Biology and Neurobiology
2016
National Research Council
2016
Current efforts to map the human genome are focused on individual chromosomes or smaller regions and frequently rely use of somatic cell hybrids. We report application polymerase chain reaction direct amplification DNA from hybrid cells containing in rodent backgrounds using primers directed Alu repeat element. demonstrate Alu-directed a fragment HPRT gene both cloned identify through sequence analysis repeats involved this amplification. also technique chromosomal locations large fragments...
Mutations in whole organisms are powerful ways of interrogating gene function a realistic context. We describe program, the Sanger Institute Mouse Genetics Project, that provides step toward aim knocking out all genes and screening each line for broad range traits. found hitherto unpublished were as likely to reveal phenotypes known genes, suggesting novel represent rich resource investigating molecular basis disease. many unexpected detected only because we screened them, emphasizing value...
The mouse inbred line C57BL/6J is widely used in genetics and its genome has been incorporated into many genetic reference populations. More recently large initiatives such as the International Knockout Mouse Consortium (IKMC) are using C57BL/6N strain to generate null alleles for all genes. Hence both strains now studies. Here we perform a comprehensive genomic phenotypic analysis of two identify differences that may influence their underlying mechanisms.We undertake sequence comparisons...
A high-throughput, retrovirus-mediated mutagenesis method based on gene trapping in embryonic stem cells was used to identify a novel mouse gene. The human ortholog encodes transmembrane protein containing five extracellular immunoglobulin-like domains that is structurally related NEPHRIN, associated with congenital nephrotic syndrome. Northern analysis revealed wide expression humans and mice, highest kidney. Based similarity NEPHRIN abundant kidney, this designated NEPH1 the retroviral...
In 2007, the International Knockout Mouse Consortium (IKMC) made ambitious promise to generate mutations in virtually every protein-coding gene of mouse genome a concerted worldwide action. Now, 5 years later, IKMC members have developed high-throughput trapping and, particular, gene-targeting pipelines and generated more than 17,400 mutant murine embryonic stem (ES) cell clones 1,700 strains, most them conditional. A common web portal (www.knockoutmouse.org) has been established, allowing...
Abstract The role of sex in biomedical studies has often been overlooked, despite evidence sexually dimorphic effects some biological studies. Here, we used high-throughput phenotype data from 14,250 wildtype and 40,192 mutant mice (representing 2,186 knockout lines), analysed for up to 234 traits, found a large proportion mammalian traits both mutants are influenced by sex. This result implications interpreting disease phenotypes animal models humans.
The availability of both the mouse and human genome sequences allows for systematic discovery gene function through use as a model system. To accelerate genetic determination function, we have developed sequence-tagged gene-trap library >270,000 embryonic stem cell clones representing mutations in ≈60% mammalian genes. Through generation phenotypic analysis knockout mice from this resource, are undertaking functional screen to identify genes regulating physiological parameters such blood...
The Hox gene products are transcription factors involved in specifying regional identity along the anteroposterior body axis. In mouse, several single mutants for genes show variably penetrant, partial homeotic transformations of vertebrae at their anterior limits expression, suggesting that compound might more complete with greater penetrance than mutants. Compound paralogous group 3 genes, hoxa-3 and hoxd-3, deletion a cervical vertebrae, which is not readily interpretable terms an...
Abstract Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, but devastating genetic disease characterized by segmental premature aging, with cardiovascular being the main cause of death. Cells from HGPS patients accumulate progerin, permanently farnesylated, toxic form Lamin A, disrupting nuclear shape and chromatin organization, leading to DNA-damage accumulation senescence. Therapeutic approaches targeting farnesylation or aiming reduce progerin levels have provided only partial health...
Gene-expression analysis studies from Schultz et al. estimate that more than 2,300 genes in the mouse genome are expressed predominantly male germ line. As of their 2003 publication [Schultz N, Hamra FK, Garbers DL (2003) Proc Natl Acad Sci USA 100(21):12201-12206], functions majority these testis-enriched during spermatogenesis and fertilization were largely unknown. Since study by al., functional hundreds reproductive-tract-enriched have been performed, but there remain many for which...
Significance Infertility is a global problem that afflicts 15% of couples, and in 50% cases, the attributing factor linked to men. Among these infertile men, 18% specifically exhibit decreased motility sperm (asthenozoospermia). Sperm dependent on formation functioning flagellum, modified cilium used for locomotion. Cilia are present almost every cell vertebrates essential proper organ functioning. Defects cilia lead severe syndromic diseases, termed ciliopathies, affecting numerous tissues...
Abstract Genomic instability arising from defective responses to DNA damage 1 or mitotic chromosomal imbalances 2 can lead the sequestration of in aberrant extranuclear structures called micronuclei (MN). Although MN are a hallmark ageing and diseases associated with genomic instability, catalogue genetic players that regulate generation remains be determined. Here we analyse 997 mouse mutant lines, revealing 145 genes whose loss significantly increases ( n = 71) decreases 74) formation,...