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Academic Journal

Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.

  • Authors : Benito-Sánchez B; Familial Cancer Clinical Unit, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), 28029, Madrid, Spain.; Barroso A

Subjects: Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/genetics ; DNA Copy Number Variations*/DNA Copy Number Variations*/DNA Copy Number Variations*/genetics ; Ovarian Neoplasms*/Ovarian Neoplasms*/Ovarian Neoplasms*/genetics

  • Source: Scientific reports [Sci Rep] 2022 May 20; Vol. 12 (1), pp. 8547. Date of Electronic Publication: 2022 May 20.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.

  • Authors : Rofes P; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain.

Subjects: Genetic Predisposition to Disease* ; Genetic Variation*; Hereditary Breast and Ovarian Cancer Syndrome/Hereditary Breast and Ovarian Cancer Syndrome/Hereditary Breast and Ovarian Cancer Syndrome/*genetics

  • Source: Genes [Genes (Basel)] 2021 Jan 23; Vol. 12 (2). Date of Electronic Publication: 2021 Jan 23.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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Academic Journal

Parkin truncating variants result in a loss-of-function phenotype.

  • Authors : Santos M; UnIGENe, IBMC - Institute for Molecular and Cell Biology, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal. .; Morais S

Subjects: Codon, Nonsense* ; Loss of Function Mutation*; Parkinsonian Disorders/Parkinsonian Disorders/Parkinsonian Disorders/*genetics

  • Source: Scientific reports [Sci Rep] 2019 Nov 06; Vol. 9 (1), pp. 16150. Date of Electronic Publication: 2019 Nov 06.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48).

  • Authors : Genis D; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (IDI), and Radiology Department (B.B.), University Hospital 'Dr. Josep Trueta,' Hospital de Santa Caterina, Parc Hospitalari Martí i Julià; Group of Investigation in Neurodegeneration and Neuroinflammation (D.G., B.A., F.M., L.R.-T., J.G.), Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta (IDIBGI), Girona

Subjects: Spinocerebellar Ataxias/Spinocerebellar Ataxias/Spinocerebellar Ataxias/*genetics ; Spinocerebellar Ataxias/Spinocerebellar Ataxias/Spinocerebellar Ataxias/*pathology ; Ubiquitin-Protein Ligases/Ubiquitin-Protein Ligases/Ubiquitin-Protein Ligases/*genetics

  • Source: Neurology [Neurology] 2018 Nov 20; Vol. 91 (21), pp. e1988-e1998. Date of Electronic Publication: 2018 Oct 31.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Digenic parkinsonism: investigation of the synergistic effects of PRKN and LRRK2.

  • Authors : Dächsel JC; Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA.; Mata IF

Subjects: Parkinson Disease/Parkinson Disease/Parkinson Disease/*genetics ; Protein Serine-Threonine Kinases/Protein Serine-Threonine Kinases/Protein Serine-Threonine Kinases/*genetics ; Ubiquitin-Protein Ligases/Ubiquitin-Protein Ligases/Ubiquitin-Protein Ligases/*genetics

  • Source: Neuroscience letters [Neurosci Lett] 2006 Dec 20; Vol. 410 (2), pp. 80-4.Publisher: Elsevier Scientific Publishers Ireland Country of Publication: Ireland NLM ID: 7600130 Publication Model: Print Cited Medium: Print ISSN:

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  • 1-5 of  5 results for ""UBIQUITIN ligases""