Found: 29
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Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 1, p. 230, doi. 10.1093/hmg/ddu441
- By:
- Publication type:
- Article
Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 16, p. 3239, doi. 10.1093/hmg/ddt178
- By:
- Publication type:
- Article
CX3CR1 deficiency promotes muscle repair and regeneration by enhancing macrophage ApoE production.
- Published in:
- Nature Communications, 2015, v. 6, n. 12, p. 8972, doi. 10.1038/ncomms9972
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- Publication type:
- Article
Limitations of IL-2 and Rapamycin in Immunotherapy of Type 1 Diabetes.
- Published in:
- Diabetes, 2013, v. 62, n. 9, p. 3120, doi. 10.2337/db13-0214
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- Publication type:
- Article
Wild type and H43Y variant of human TRIM5α show similar anti-human immunodeficiency virus type 1 activity both in vivo and in vitro.
- Published in:
- Immunogenetics, 2007, v. 59, n. 6, p. 511, doi. 10.1007/s00251-007-0217-7
- By:
- Publication type:
- Article
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 645, doi. 10.1038/ejhg.2011.261
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- Publication type:
- Article
Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension.
- Published in:
- Nature Genetics, 2013, v. 45, n. 5, p. 518, doi. 10.1038/ng.2581
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- Publication type:
- Article
Persistent resistance to HIV-1 infection in CD4 T cells from exposed uninfected Vietnamese individuals is mediated by entry and post-entry blocks.
- Published in:
- Retrovirology, 2006, v. 3, p. 81, doi. 10.1186/1742-4690-3-81
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- Publication type:
- Article
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 2, p. 1, doi. 10.1371/journal.pgen.1000381
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- Publication type:
- Article
WDR34, a candidate gene for non‐syndromic rod‐cone dystrophy.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 2, p. 298, doi. 10.1111/cge.13872
- By:
- Publication type:
- Article
Gene Expression Analyses Identify Narp Contribution in the Development of L-DOPA-Induced Dyskinesia.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 1, p. 96, doi. 10.1523/JNEUROSCI.5231-13.2015
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- Publication type:
- Article
Distinct Genetic Loci Control Plasma HIV-RNA and Cellular HIV-DNA Levels in HIV-1 Infection: The ANRS Genome Wide Association 01 Study.
- Published in:
- PLoS ONE, 2008, v. 3, n. 12, p. 1, doi. 10.1371/journal.pone.0003907
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- Publication type:
- Article
Identification of New Biological Pathways Involved in Skin Aging From the Analysis of French Women Genome-Wide Data.
- Published in:
- Frontiers in Genetics, 2022, p. 1, doi. 10.3389/fgene.2022.836581
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- Publication type:
- Article
A genome-wide association study in Caucasian women suggests the involvement of HLA genes in the severity of facial solar lentigines.
- Published in:
- Pigment Cell & Melanoma Research, 2016, v. 29, n. 5, p. 550, doi. 10.1111/pcmr.12502
- By:
- Publication type:
- Article
Pathogenic T cells have a paradoxical protective effect in murine autoimmune diabetes by boosting Tregs.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Translation termination efficiency modulates ATF4 response by regulating ATF4 mRNA translation at 5′ short ORFs.
- Published in:
- Nucleic Acids Research, 2012, v. 40, n. 19, p. 9557, doi. 10.1093/nar/gks762
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- Publication type:
- Article
Restoration of regulatory and effector T cell balance and B cell homeostasis in systemic lupus erythematosus patients through vitamin D supplementation.
- Published in:
- Arthritis Research & Therapy, 2012, v. 14, n. 5, p. 4060, doi. 10.1186/ar4060
- By:
- Publication type:
- Article
Atorvastatin reduces β-Adrenergic dysfunction in rats with diabetic cardiomyopathy.
- Published in:
- PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0180103
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- Publication type:
- Article
Homogeneous Inflammatory Gene Profiles Induced in Human Dermal Fibroblasts in Response to the Three Main Species of Borrelia burgdorferi sensu lato.
- Published in:
- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0164117
- By:
- Publication type:
- Article
A Genome-Wide Association Study in Caucasian Women Points Out a Putative Role of the STXBP5L Gene in Facial Photoaging.
- Published in:
- Journal of Investigative Dermatology, 2013, v. 133, n. 4, p. 929, doi. 10.1038/jid.2012.458
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- Publication type:
- Article
Patterns of chromosomal copy-number alterations in intrahepatic cholangiocarcinoma.
- Published in:
- BMC Cancer, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12885-015-1111-6
- By:
- Publication type:
- Article
CRB1 mutations in inherited retinal dystrophies.
- Published in:
- Human Mutation, 2012, v. 33, n. 2, p. 306, doi. 10.1002/humu.21653
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- Publication type:
- Article
Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.
- Published in:
- Nature Neuroscience, 2014, v. 17, n. 7, p. 923, doi. 10.1038/nn.3729
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- Publication type:
- Article
Early born neurons are abnormally positioned in the doublecortin knockout hippocampus.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 1, p. 90, doi. 10.1093/hmg/ddw370
- By:
- Publication type:
- Article
Genomewide Association Study of a Rapid Progression Cohort Identifies New Susceptibility Alleles for AIDS (ANRS Genomewide Association Study 03).
- Published in:
- Journal of Infectious Diseases, 2009, v. 200, n. 8, p. 1194, doi. 10.1086/605892
- By:
- Publication type:
- Article
Genomewide Association Study of an AIDSNonprogression Cohort Emphasizes the Role Played by HLA Genes (ANRS Genomewide Association Study 02).
- Published in:
- Journal of Infectious Diseases, 2009, v. 198, n. 3, p. 419, doi. 10.1086/596067
- By:
- Publication type:
- Article
Exhaustive Genotyping of the Interleukin-1 Family Genes and Associations with AIDS Progression in a French Cohort.
- Published in:
- Journal of Infectious Diseases, 2006, v. 194, n. 11, p. 1492
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- Publication type:
- Article
Low-Molecular-Weight Fucoidan Induces Endothelial Cell Migration via the PI3K/AKT Pathway and Modulates the Transcription of Genes Involved in Angiogenesis.
- Published in:
- Marine Drugs, 2015, v. 13, n. 12, p. 7446, doi. 10.3390/md13127075
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- Publication type:
- Article