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Reproduction Function in Male Patients With Bardet Biedl Syndrome.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Well-organized spheroids as a new platform to examine cell interaction and behaviour during organ development.
- Published in:
- Cell & Tissue Research, 2016, v. 366, n. 3, p. 601, doi. 10.1007/s00441-016-2487-6
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- Publication type:
- Article
Silver Nanoparticle‐Decorated Reduced Graphene Oxide Nanomaterials Exert Membrane Stress and Induce Immune Response to Inhibit the Early Phase of HIV‐1 Infection.
- Published in:
- Advanced Materials Interfaces, 2023, v. 10, n. 6, p. 1, doi. 10.1002/admi.202201996
- By:
- Publication type:
- Article
Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice.
- Published in:
- Science Translational Medicine, 2019, v. 11, n. 484, p. N.PAG, doi. 10.1126/scitranslmed.aav1866
- By:
- Publication type:
- Article
Physiological and retinoid-induced proliferations of epidermis basal keratinocytes are differently controlled.
- Published in:
- EMBO Journal, 2002, v. 21, n. 13, p. 3402, doi. 10.1093/emboj/cdf331
- By:
- Publication type:
- Article
Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways.
- Published in:
- FASEB Journal, 2013, v. 27, n. 8, p. 3384, doi. 10.1096/fj.12-220947
- By:
- Publication type:
- Article
The prokineticin receptor-1 (GPR73) promotes cardiomyocyte survival and angiogenesis.
- Published in:
- FASEB Journal, 2007, v. 21, n. 11, p. 2980, doi. 10.1096/fj.07-8116com
- By:
- Publication type:
- Article
Serotonin is a novel survival factor of cardiomyocytes: mitochondria as a target of 5‐HT<sub>2B</sub>‐receptor signaling.
- Published in:
- FASEB Journal, 2003, v. 17, n. 10, p. 1373, doi. 10.1096/fj.02-1122fje
- By:
- Publication type:
- Article
Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34490-4
- By:
- Publication type:
- Article
Polyglutamine-expanded ATXN7 alters a specific epigenetic signature underlying photoreceptor identity gene expression in SCA7 mouse retinopathy.
- Published in:
- Journal of Biomedical Science, 2022, v. 29, n. 1, p. 1, doi. 10.1186/s12929-022-00892-1
- By:
- Publication type:
- Article
Opposite Phenotypes of Muscle Strength and Locomotor Function in Mouse Models of Partial Trisomy and Monosomy 21 for the Proximal Hspa13-App Region.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005062
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- Publication type:
- Article
Cardiac forces regulate zebrafish heart valve delamination by modulating Nfat signaling.
- Published in:
- PLoS Biology, 2022, v. 20, n. 1, p. 1, doi. 10.1371/journal.pbio.3001505
- By:
- Publication type:
- Article
Hamster organotypic modeling of SARS-CoV-2 lung and brainstem infection.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26096-z
- By:
- Publication type:
- Article
Non‐invasive, needle‐free drug delivery for treatment of retinal degeneration on Bardet‐Biedl syndrome.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.5396
- By:
- Publication type:
- Article
PATAS, a First-in-Class Therapeutic Peptide Biologic, Improves Whole-Body Insulin Resistance and Associated Comorbidities In Vivo.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Relative Adipose Tissue Failure in Alström Syndrome Drives Obesity-Induced Insulin Resistance.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Myelinosomes act as natural secretory organelles in Sertoli cells to prevent accumulation of aggregate-prone mutant Huntingtin and CFTR.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4170, doi. 10.1093/hmg/ddw251
- By:
- Publication type:
- Article
Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6736, doi. 10.1093/hmg/ddv380
- By:
- Publication type:
- Article
Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 9, p. 1856, doi. 10.1093/hmg/ddt038
- By:
- Publication type:
- Article
Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 14, p. 2792, doi. 10.1093/hmg/ddq180
- By:
- Publication type:
- Article
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2132, doi. 10.1093/hmg/ddn112
- By:
- Publication type:
- Article
Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice.
- Published in:
- Nature Communications, 2017, v. 8, n. 6, p. 1, doi. 10.1038/ncomms15661
- By:
- Publication type:
- Article
ISCA1 is essential for mitochondrial Fe<sub>4</sub>S<sub>4</sub> biogenesis in vivo.
- Published in:
- Nature Communications, 2017, v. 8, n. 5, p. 15124, doi. 10.1038/ncomms15124
- By:
- Publication type:
- Article
The transcriptional coregulator PGC-1β controls mitochondrial function and anti-oxidant defence in skeletal muscles.
- Published in:
- Nature Communications, 2015, v. 6, n. 12, p. 10210, doi. 10.1038/ncomms10210
- By:
- Publication type:
- Article
Transmission Microsphere‐Assisted Dark‐Field Microscopy.
- Published in:
- Physica Status Solidi - Rapid Research Letters, 2019, v. 13, n. 2, p. N.PAG, doi. 10.1002/pssr.201800445
- By:
- Publication type:
- Article
Prokineticin Receptor 1 as a Novel Suppressor of Preadipocyte Proliferation and Differentiation to Control Obesity.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0081175
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- Publication type:
- Article
An Integrated Diagnosis Strategy for Congenital Myopathies.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067527
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- Publication type:
- Article
The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia.
- Published in:
- PLoS ONE, 2009, v. 4, n. 7, p. 1, doi. 10.1371/journal.pone.0006379
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- Publication type:
- Article
Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia.
- Published in:
- Nature Medicine, 2014, v. 20, n. 5, p. 542, doi. 10.1038/nm.3510
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- Publication type:
- Article
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.
- Published in:
- Nature Medicine, 2011, v. 17, n. 6, p. 720, doi. 10.1038/nm.2374
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- Publication type:
- Article
Retinoic Acid Deficiency Impairs the Vestibular Function.
- Published in:
- Journal of Neuroscience, 2013, v. 33, n. 13, p. 5856, doi. 10.1523/JNEUROSCI.4618-12.2013
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- Publication type:
- Article
Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.
- Published in:
- Nature Genetics, 2006, v. 38, n. 1, p. 112, doi. 10.1038/ng1684
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- Publication type:
- Article
Androgen receptor coordinates muscle metabolic and contractile functions.
- Published in:
- Journal of Cachexia, Sarcopenia & Muscle, 2023, v. 14, n. 4, p. 1707, doi. 10.1002/jcsm.13251
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- Publication type:
- Article
MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4158, doi. 10.1093/brain/awad251
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- Publication type:
- Article
SCA7 Mouse Cerebellar Pathology Reveals Preferential Downregulation of Key Purkinje Cell-Identity Genes and Shared Disease Signature with SCA1 and SCA2.
- Published in:
- Journal of Neuroscience, 2021, v. 41, n. 22, p. 4910, doi. 10.1523/JNEUROSCI.1882-20.2021
- By:
- Publication type:
- Article
Study of the chorion of seasonal and non-seasonal Africa and Neotropical oviparous Cyprinodontiforme fishes.
- Published in:
- Environmental Biology of Fishes, 2018, v. 101, n. 2, p. 287, doi. 10.1007/s10641-017-0698-7
- By:
- Publication type:
- Article
Bile acids induce energy expenditure by promoting intracellular thyroid hormone activation.
- Published in:
- Nature, 2006, v. 439, n. 7075, p. 484, doi. 10.1038/nature04330
- By:
- Publication type:
- Article
Modulation of large dense core vesicle insulin content mediates rhythmic hormone release from pancreatic beta cells over the 24h cycle.
- Published in:
- PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0193882
- By:
- Publication type:
- Article
Transgenic myocardial overexpression of prokineticin receptor-2 (GPR73b) induces hypertrophy and capillary vessel leakage.
- Published in:
- Cardiovascular Research, 2009, v. 81, n. 1, p. 28, doi. 10.1093/cvr/cvn251
- By:
- Publication type:
- Article
Overproduction of Delta-Endotoxins by Sporeless Bacillus thuringiensis Mutants Obtained by Nitrous Acid Mutagenesis.
- Published in:
- Current Microbiology, 2011, v. 62, n. 1, p. 38, doi. 10.1007/s00284-010-9670-x
- By:
- Publication type:
- Article
Corrigendum: Matrix metalloproteinase 11 protects from diabesity and promotes metabolic switch.
- Published in:
- Scientific Reports, 2016, p. 26916, doi. 10.1038/srep26916
- By:
- Publication type:
- Article
Prokineticin receptor-1 signaling promotes Epicardial to Mesenchymal Transition during heart development.
- Published in:
- Scientific Reports, 2016, p. 25541, doi. 10.1038/srep25541
- By:
- Publication type:
- Article
Trafficking of Endogenous Immunoglobulins by Endothelial Cells at the Blood-Brain Barrier.
- Published in:
- Scientific Reports, 2016, p. 25658, doi. 10.1038/srep25658
- By:
- Publication type:
- Article
Matrix metalloproteinase 11 protects from diabesity and promotes metabolic switch.
- Published in:
- Scientific Reports, 2016, p. 25140, doi. 10.1038/srep25140
- By:
- Publication type:
- Article
STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 10, p. 1579, doi. 10.1093/hmg/ddy446
- By:
- Publication type:
- Article
Loss of zebrafish Ataxin-7, a SAGA subunit responsible for SCA7 retinopathy, causes ocular coloboma and malformation of photoreceptors.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 6, p. 912, doi. 10.1093/hmg/ddy401
- By:
- Publication type:
- Article
In Vitro Fertilization assisted by IntraCytoplasmic Sperm Injection in a male patient with Bardet–Biedl syndrome.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 5/6, p. 573, doi. 10.1111/cge.14122
- By:
- Publication type:
- Article
Dual Role of COUP-TF-Interacting Protein 2 in Epidermal Homeostasis and Permeability Barrier Formation.
- Published in:
- Journal of Investigative Dermatology, 2009, v. 129, n. 6, p. 1459, doi. 10.1038/jid.2008.392
- By:
- Publication type:
- Article
Malignant Transformation of DMBA/TPA-Induced Papillomas and Nevi in the Skin of Mice Selectively Lacking Retinoid-X-Receptor α in Epidermal Keratinocytes.
- Published in:
- Journal of Investigative Dermatology, 2007, v. 127, n. 5, p. 1250, doi. 10.1038/sj.jid.5700672
- By:
- Publication type:
- Article