Works matching DE "NONSENSE mutation"
Results: 1111
Genomic profiling of interferon signaling pathway gene mutations in type 2 diabetic individuals with COVID-19.
- Published in:
- Turkish Journal of Biochemistry / Turk Biyokimya Dergisi, 2025, v. 50, n. 1, p. 80, doi. 10.1515/tjb-2024-0139
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- Publication type:
- Article
A remarkable and durable response to tislelizumab treatment of an anaplastic thyroid carcinoma without targetable genomic alterations: a case report.
- Published in:
- 2025
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- Publication type:
- Case Study
Arterial aneurysms: autosomal dominant polycystic kidney disease, Marfan syndrome or both?
- Published in:
- Clinical & Experimental Nephrology, 2014, v. 18, n. 4, p. 672, doi. 10.1007/s10157-013-0876-7
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- Publication type:
- Article
Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta.
- Published in:
- Clinical Oral Investigations, 2019, v. 23, n. 3, p. 1481, doi. 10.1007/s00784-018-2577-9
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- Publication type:
- Article
Analysis of mutations in cutaneous squamous cell carcinoma reveals novel genes and mutations associated with patient-specific characteristics and metastasis: a systematic review.
- Published in:
- Archives of Dermatological Research, 2022, v. 314, n. 7, p. 711, doi. 10.1007/s00403-021-02213-2
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- Publication type:
- Article
Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole.
- Published in:
- 2016
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- Publication type:
- journal article
Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein‐truncating mutations of ASPM.
- Published in:
- Biotechnology & Applied Biochemistry, 2022, v. 69, n. 6, p. 2296, doi. 10.1002/bab.2286
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- Publication type:
- Article
Development of K562 cell clones expressing β-globin mRNA carrying the β039 thalassaemia mutation for the screening of correctors of stop-codon mutations.
- Published in:
- Biotechnology & Applied Biochemistry, 2009, v. 54, n. 1, p. 41, doi. 10.1042/BA20080266
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- Publication type:
- Article
Multiple mutations in polyketide synthase led to disruption of Psittacofulvin production across diverse parrot species.
- Published in:
- Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-07537-7
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- Publication type:
- Article
Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.
- Published in:
- Human Genetics, 2023, v. 142, n. 5, p. 691, doi. 10.1007/s00439-022-02486-1
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- Publication type:
- Article
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.
- Published in:
- Human Genetics, 2020, v. 139, n. 2, p. 247, doi. 10.1007/s00439-019-02107-4
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- Publication type:
- Article
Skipping of an exon with a nonsense mutation in the DMD gene is induced by the conversion of a splicing enhancer to a splicing silencer.
- Published in:
- Human Genetics, 2019, v. 138, n. 7, p. 771, doi. 10.1007/s00439-019-02036-2
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- Publication type:
- Article
Mutation of S461, in the GOLGA3 phosphorylation site, does not affect mouse spermatogenesis.
- Published in:
- PeerJ, 2023, p. 1, doi. 10.7717/peerj.15133
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- Publication type:
- Article
Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease.
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- Neurological Sciences, 2025, v. 46, n. 1, p. 437, doi. 10.1007/s10072-024-07676-5
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- Publication type:
- Article
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
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- Neurological Sciences, 2022, v. 43, n. 11, p. 6517, doi. 10.1007/s10072-022-06270-x
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- Publication type:
- Article
A novel nonsense mutation in the TYMP gene causing MNGIE with multiple intracranial hemorrhages on brain MRI.
- Published in:
- 2021
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- Publication type:
- Letter
A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family.
- Published in:
- 2019
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- Publication type:
- journal article
Exercise-induced downbeat nystagmus in a Korean family with a nonsense mutation in CACNA1A.
- Published in:
- Neurological Sciences, 2015, v. 36, n. 8, p. 1393, doi. 10.1007/s10072-015-2157-6
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- Publication type:
- Article
Application of Flow Cytometry for Viability Assay of Mutants for Translation Termination Factors in the Yeast Saccharomyces cerevisiae.
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- Microbiology (00262617), 2024, v. 93, n. 2, p. 236, doi. 10.1134/S0026261723604244
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- Publication type:
- Article
Positional effects of premature termination codons on the biochemical and biophysical properties of CFTR.
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- Journal of Physiology, 2020, v. 598, n. 3, p. 517, doi. 10.1113/JP278418
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- Publication type:
- Article
A nonsense variant of reactivation gene-1 leads to Omenn syndrome in a Pakistani family.
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- Khyber Medical University Journal, 2024, v. 16, n. 3, p. 201
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- Publication type:
- Article
SMARCB1/INI1 missense mutation in mucinous carcinoma with rhabdoid features.
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- Pathology International, 2006, v. 56, n. 11, p. 702, doi. 10.1111/j.1440-1827.2006.02033.x
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- Publication type:
- Article
Diverse phenotype of Brooke–Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene.
- Published in:
- Experimental Dermatology, 2006, v. 15, n. 12, p. 966, doi. 10.1111/j.1600-0625.2006.00501.x
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- Publication type:
- Article
Mutation Report A very mild form of non-Herlitz junctional epidermolysis bullosa: BP180 rescue by outsplicing of mutated exon 30 coding for the COL15 domain.
- Published in:
- Experimental Dermatology, 2004, v. 13, n. 2, p. 125, doi. 10.1111/j.0906-6705.2004.00141.x
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- Publication type:
- Article
Engineered tRNAs efficiently suppress CDKL5 premature termination codons.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-82766-0
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- Publication type:
- Article
Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-77441-3
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- Publication type:
- Article
The spectrum of novel ABCB11 gene variations in children with progressive familial intrahepatic cholestasis type 2 in Pakistani cohorts.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-59945-0
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- Publication type:
- Article
Loss-of-function mutations are main drivers of adaptations during short-term evolution.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-57694-8
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- Publication type:
- Article
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 6, p. 988, doi. 10.3390/biom13060988
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- Publication type:
- Article
Regulation Mechanisms of Meiotic Recombination Revealed from the Analysis of a Fission Yeast Recombination Hotspot ade6-M26.
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- Biomolecules (2218-273X), 2022, v. 12, n. 12, p. 1761, doi. 10.3390/biom12121761
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- Publication type:
- Article
CTELS: A Cell-Free System for the Analysis of Translation Termination Rate.
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- Biomolecules (2218-273X), 2020, v. 10, n. 6, p. 911, doi. 10.3390/biom10060911
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- Publication type:
- Article
Factor IX inhibitors in haemophilia B: A report of National Haemophilia Registry in China.
- Published in:
- Haemophilia, 2023, v. 29, n. 1, p. 123, doi. 10.1111/hae.14665
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- Publication type:
- Article
The B‐Natural study—The outcome of immune tolerance induction therapy in patients with severe haemophilia B.
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- Haemophilia, 2021, v. 27, n. 5, p. 802, doi. 10.1111/hae.14357
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- Publication type:
- Article
Identification of mutations in the F8 and F9 gene in families with haemophilia using targeted high-throughput sequencing.
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- Haemophilia, 2016, v. 22, n. 5, p. e427, doi. 10.1111/hae.12924
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- Publication type:
- Article
US Guidelines for immune tolerance induction in patients with haemophilia a and inhibitors.
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- Haemophilia, 2015, v. 21, n. 5, p. 559, doi. 10.1111/hae.12730
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- Publication type:
- Article
Novel therapeutic approaches for haemophilia.
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- Haemophilia, 2015, v. 21, n. 2, p. 152, doi. 10.1111/hae.12615
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- Publication type:
- Article
A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability.
- Published in:
- Frontiers in Psychiatry, 2020, v. 11, p. 1, doi. 10.3389/fpsyt.2020.00354
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- Publication type:
- Article
Case report: Discovery of novel CTNNB1 mutations and comparison of clinical characteristics in two patients with NEDSDV.
- Published in:
- Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1502756
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- Publication type:
- Article
A new subtype of Lynch syndrome associated with MSH2 c.354T>A (p. Y118*) identified in a Chinese family: case report and literature review.
- Published in:
- Frontiers in Genetics, 2024, p. 01, doi. 10.3389/fgene.2024.1440179
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- Publication type:
- Article
The IL‐2RG R328X nonsense mutation allows partial STAT‐5 phosphorylation and defines a critical region involved in the leaky‐SCID phenotype.
- Published in:
- Clinical & Experimental Immunology, 2020, v. 200, n. 1, p. 61, doi. 10.1111/cei.13405
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- Publication type:
- Article
Identification of novel mutations and risk assessment of Han Chinese patients with autosomal dominant polycystic kidney disease.
- Published in:
- Nephrology, 2019, v. 24, n. 5, p. 504, doi. 10.1111/nep.13270
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- Publication type:
- Article
Complete clinical resolution of a Japanese family with renal pseudohypoaldosteronism type 1 due to a novel NR3C2 mutation.
- Published in:
- Nephrology, 2019, v. 24, n. 4, p. 489, doi. 10.1111/nep.13391
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- Publication type:
- Article
Two frequent loss‐of‐function mutations in Aurora Kinase C gene in Algerian infertile men with macrozoospermia.
- Published in:
- Andrologia, 2020, v. 52, n. 11, p. 1, doi. 10.1111/and.13868
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- Publication type:
- Article
The Spectrum of Ocular Manifestations in Patients with Waldenström's Macroglobulinemia.
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- Ocular Immunology & Inflammation, 2022, v. 30, n. 7/8, p. 1659, doi. 10.1080/09273948.2021.1933068
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- Publication type:
- Article
A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome.
- Published in:
- Case Reports in Genetics, 2017, p. 1, doi. 10.1155/2017/2357282
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- Publication type:
- Article
Absence of 2899C<T Mutation in the WNK4 Gene in a Free-Ranging Lion (Panthera leo) with Polymyopathy.
- Published in:
- Animals (2076-2615), 2022, v. 12, n. 3, p. 389, doi. 10.3390/ani12030389
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- Publication type:
- Article
Novel CYP24A1 Mutation in a Young Male Patient with Nephrolithiasis: Case Report.
- Published in:
- Kidney & Blood Pressure Research, 2019, v. 44, n. 4, p. 870, doi. 10.1159/000500922
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- Publication type:
- Article
TP53 mutations in Romanian patients with colorectal cancer.
- Published in:
- Genes & Environment, 2023, v. 45, n. 1, p. 1, doi. 10.1186/s41021-023-00277-2
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- Publication type:
- Article
Identification of zona pellucida defects revealed a novel loss-of-function mutation in ZP2 in humans and rats.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1169378
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- Publication type:
- Article