Found: 27
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Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.
- Published in:
- Diabetologia, 2023, v. 66, n. 12, p. 2226, doi. 10.1007/s00125-023-06012-4
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- Article
The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations.
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- Diabetologia, 2023, v. 66, n. 1, p. 116, doi. 10.1007/s00125-022-05806-2
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- Article
Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry.
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- Diabetologia, 2017, v. 60, n. 4, p. 625, doi. 10.1007/s00125-016-4167-1
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- Article
Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R.
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- Cells (2073-4409), 2023, v. 12, n. 20, p. 2469, doi. 10.3390/cells12202469
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- Article
Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish.
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- Frontiers in Molecular Neuroscience, 2021, v. 14, p. 1, doi. 10.3389/fnmol.2021.723912
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- Article
Pellino‐2 in nonimmune cells: novel interaction partners and intracellular localization.
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- FEBS Letters, 2021, v. 595, n. 23, p. 2909, doi. 10.1002/1873-3468.14212
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- Article
The E3 SUMO ligase PIASγ is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1α.
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- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-29448-w
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- Article
Association of a Low-Frequency Variant in HNF1A With Type 2 Diabetes in a Latino Population.
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- JAMA: Journal of the American Medical Association, 2014, v. 311, n. 22, p. 2305, doi. 10.1001/jama.2014.6511
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- Article
246-LB: Rare Noncoding Intronic HNF1A Sequence Variants Cause Aberrant mRNA Processing in MODY.
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- Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-246-LB
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- Article
Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.
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- 2017
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- journal article
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5870, doi. 10.3390/ijms22115870
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- Article
NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant – a case report.
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- BMC Medical Genetics, 2018, v. 19, p. 1, doi. 10.1186/s12881-018-0559-z
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- Article
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.
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- BMC Cancer, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12885-023-10790-w
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- Article
Post-translational modifications of Annexin A2 are linked to its association with perinuclear nonpolysomal mRNP complexes.
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- FEBS Open Bio, 2017, v. 7, n. 2, p. 160, doi. 10.1002/2211-5463.12173
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- Article
Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.
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- Genes, 2023, v. 14, n. 2, p. 262, doi. 10.3390/genes14020262
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- Article
Clinical features and molecular genetics of patients with ABCA4‐retinal dystrophies.
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- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 5, p. e733, doi. 10.1111/aos.14679
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- Article
The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.
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- Acta Ophthalmologica (1755375X), 2017, v. 95, n. 3, p. 240, doi. 10.1111/aos.13273
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- Article
Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants.
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- 2020
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- journal article
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.
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- Familial Cancer, 2022, v. 21, n. 4, p. 389, doi. 10.1007/s10689-021-00286-6
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- Article
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins.
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- Bioscience Reports, 2017, v. 37, n. 2, p. 1, doi. 10.1042/BSR20170251
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- Article
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0146-0
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- Publication type:
- Article
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
- Published in:
- 2014
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- Publication type:
- journal article
High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.
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- 2015
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- Publication type:
- journal article
Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss‐of‐function phenotypes in vitro.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 240, doi. 10.1002/jimd.12309
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- Article
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.
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- Human Molecular Genetics, 2024, v. 33, n. 10, p. 894, doi. 10.1093/hmg/ddae027
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- Article
Ubiquitinated annexin A2 is enriched in the cytoskeleton fraction
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- FEBS Letters, 2005, v. 579, n. 1, p. 203, doi. 10.1016/j.febslet.2004.11.076
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- Article
Binding of ATP at the active site of human pancreatic glucokinase - nucleotide-induced conformational changes with possible implications for its kinetic cooperativity.
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- FEBS Journal, 2011, v. 278, n. 13, p. 2372, doi. 10.1111/j.1742-4658.2011.08160.x
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- Article