Works matching DE "FRAMESHIFT mutation"
Results: 1110
Genetic spectrum and genotype–phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03596-5
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- Article
Genomic profiling of interferon signaling pathway gene mutations in type 2 diabetic individuals with COVID-19.
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- Turkish Journal of Biochemistry / Turk Biyokimya Dergisi, 2025, v. 50, n. 1, p. 80, doi. 10.1515/tjb-2024-0139
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- Article
Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis.
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- Biomedicines, 2025, v. 13, n. 2, p. 308, doi. 10.3390/biomedicines13020308
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- Article
Generation of frameshift-mutated TGFβR2-specific T cells in healthy subjects following administration with cancer vaccine candidate FMPV-1/GM-CSF in a phase 1 study.
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- Cancer Immunology, Immunotherapy, 2025, v. 74, n. 4, p. 1, doi. 10.1007/s00262-025-03969-6
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- Article
Fine mapping and candidate identification of SST, a gene controlling seedling salt tolerance in rice ( Oryza sativa L.).
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- Euphytica, 2015, v. 205, n. 1, p. 269, doi. 10.1007/s10681-015-1453-9
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- Article
Targeted exome sequencing reveals a novel GLI3 mutation in a Chinese family with nonsyndromic polydactyly.
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- Developmental Dynamics, 2019, v. 248, n. 10, p. 942, doi. 10.1002/dvdy.89
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- Article
Retrospective study of 98 patients with X-linked agammaglobulinemia complicated with arthritis.
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- Clinical Rheumatology, 2022, v. 41, n. 6, p. 1889, doi. 10.1007/s10067-022-06095-1
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- Article
A novel frameshift mutation in the cylindromatosis ( CYLD) gene in a Chinese family with multiple familial trichoepithelioma.
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- Archives of Dermatological Research, 2014, v. 306, n. 9, p. 857, doi. 10.1007/s00403-014-1499-x
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- Article
A Novel Homozygous Frameshift Mutation in the PLCB4 Gene Associated with Auriculocondylar Syndrome 2 and Accompanied by Mild Intellectual Disability.
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- Türkiye Klinikleri Journal of Case Reports, 2022, v. 30, n. 4, p. 258, doi. 10.5336/caserep.2022-89352
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- Article
Improved production of clavulanic acid by reverse engineering and overexpression of the regulatory genes in an industrial Streptomyces clavuligerus strain.
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- Journal of Industrial Microbiology & Biotechnology, 2019, v. 46, n. 8, p. 1205, doi. 10.1007/s10295-019-02196-0
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- Article
Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)<sub>n</sub> insertion in spinocerebellar ataxia type 37.
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- Human Genetics, 2024, v. 143, n. 3, p. 211, doi. 10.1007/s00439-024-02644-7
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- Article
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency.
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- Human Genetics, 2023, v. 142, n. 9, p. 1385, doi. 10.1007/s00439-023-02578-6
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- Article
TMEM151A variants associated with paroxysmal kinesigenic dyskinesia.
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- Human Genetics, 2023, v. 142, n. 8, p. 1017, doi. 10.1007/s00439-023-02535-3
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- Article
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract.
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- Human Genetics, 2023, v. 142, n. 3, p. 457, doi. 10.1007/s00439-022-02518-w
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- Article
Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies.
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- Human Genetics, 2021, v. 140, n. 11, p. 1535, doi. 10.1007/s00439-021-02261-8
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- Article
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.
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- Human Genetics, 2020, v. 139, n. 2, p. 247, doi. 10.1007/s00439-019-02107-4
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- Article
A glycine transporter SLC6A5 frameshift mutation causes startle disease in Spanish greyhounds.
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- Human Genetics, 2019, v. 138, n. 5, p. 509, doi. 10.1007/s00439-019-01986-x
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- Article
基于 CRISPR/ Cas9 系统构建 Slfn2 基因敲除的 小鼠肺癌细胞系.
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- Journal of Guangxi Normal University - Natural Science Edition, 2022, v. 40, n. 4, p. 173, doi. 10.16088/j.issn.1001-6600.2021022302
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- Article
In vitro and in silico evaluation of the design of nano-phyto-drug candidate for oral use against Staphylococcus aureus.
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- PeerJ, 2023, p. 1, doi. 10.7717/peerj.15523
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- Article
Analysis of Corynebacterium silvaticum genomes from Portugal reveals a single cluster and a clade suggested to produce diphtheria toxin.
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- PeerJ, 2023, p. 1, doi. 10.7717/peerj.14895
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- Article
TET2 mutations in acute myeloid leukemia: a comprehensive study in patients of Sindh, Pakistan.
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- PeerJ, 2021, p. 1, doi. 10.7717/peerj.10678
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- Article
On the efficiency of the genetic code after frameshift mutations.
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- PeerJ, 2019, p. 1, doi. 10.7717/peerj.4825
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- Article
On the efficiency of the genetic code after frameshift mutations.
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- PeerJ, 2018, v. 6, p. 1, doi. 10.7717/peerj.4825
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- Article
Familial exudative vitreoretinopathy in a 4 generations family of South-East Asian Descendent with FZD4 mutation (c.1501_1502del).
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- International Journal of Retina & Vitreous, 2022, v. 8, n. 1, p. 1, doi. 10.1186/s40942-022-00384-2
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- Article
A novel recombination protein C12ORF40/REDIC1 is required for meiotic crossover formation.
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- Cell Discovery, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41421-023-00577-5
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- Article
A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family.
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- Neurological Sciences, 2023, v. 44, n. 7, p. 2605, doi. 10.1007/s10072-023-06748-2
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- Article
Letter to the Editor: Novel TREM2 frameshift mutation in a 30-year-old woman with suspected frontotemporal dementia.
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- Neurological Sciences, 2023, v. 44, n. 7, p. 2581, doi. 10.1007/s10072-023-06726-8
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- Article
A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
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- Neurological Sciences, 2021, v. 42, n. 7, p. 2969, doi. 10.1007/s10072-021-05117-1
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- Article
CACNA1B gene variants in adult-onset isolated focal dystonia.
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- Neurological Sciences, 2021, v. 42, n. 3, p. 1113, doi. 10.1007/s10072-020-04778-8
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- Article
Mild encephalitis/encephalopathy with reversible splenial lesion (MERS) in twin sisters with two CD36 frameshift mutations.
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- Neurological Sciences, 2020, v. 41, n. 8, p. 2271, doi. 10.1007/s10072-020-04417-2
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- Article
A novel SPAST frameshift mutation in a Chinese family with hereditary spastic paraplegia.
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- 2017
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- Case Study
A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population.
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- Neurological Sciences, 2015, v. 36, n. 8, p. 1387, doi. 10.1007/s10072-015-2121-5
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- Article
Author Correction: Establishment, characterization, and genetic profiling of patient-derived osteosarcoma cells from a patient with retinoblastoma.
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- 2024
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- Correction Notice
First insight into the whole genome sequence variations in clarithromycin resistant Helicobacter pylori clinical isolates in Russia.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-70977-4
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- Article
Fluorescent reporters give new insights into antibiotics-induced nonsense and frameshift mistranslation.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-57597-8
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- Article
Frontotemporal Lobar Degeneration Case with an N-Terminal TUBA4A Mutation Exhibits Reduced TUBA4A Levels in the Brain and TDP-43 Pathology.
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- Biomolecules (2218-273X), 2022, v. 12, n. 3, p. 440, doi. 10.3390/biom12030440
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- Article
Clinical features and genetic defect in six index patients with congenital fibrinogen disorders: Three novel mutations with one common mutation in Taiwan's population.
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- Haemophilia, 2021, v. 27, n. 6, p. 1022, doi. 10.1111/hae.14399
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- Article
Molecular analysis of eight severe FV‐deficient patients in Pakistan: A large series of homozygous for frameshift mutations.
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- Haemophilia, 2019, v. 25, n. 4, p. e278, doi. 10.1111/hae.13741
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- Article
Successful pregnancy under fibrinogen substitution in a woman with congenital afibrinogenaemia complicated by a postpartum venous thrombosis.
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- Haemophilia, 2015, v. 21, n. 1, p. e108, doi. 10.1111/hae.12584
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- Article
Clinical Features and MicroRNA Expression Patterns Between AML Patients With DNMT3A R882 and Frameshift Mutations.
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- Frontiers in Oncology, 2019, v. 9, p. 1, doi. 10.3389/fonc.2019.01133
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- Article
Improved Resistance Prediction in Mycobacterium tuberculosis by Better Handling of Insertions and Deletions, Premature Stop Codons, and Filtering of Non-informative Sites.
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- Frontiers in Microbiology, 2019, v. 10, p. 1, doi. 10.3389/fmicb.2019.02464
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- Article
Molecular Epidemiology and Virulence Profiles of Colistin-Resistant <italic>Klebsiella pneumoniae</italic> Blood Isolates From the Hospital Agency “Ospedale dei Colli,” Naples, Italy.
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- Frontiers in Microbiology, 2018, p. N.PAG, doi. 10.3389/fmicb.2018.01463
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- Article
Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome.
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- Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2024.1439905
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- Article
Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1491649
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- Article
Case report: Clinical, genetic and immunological characterization of a novel XK variant in a patient with McLeod syndrome.
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- Frontiers in Genetics, 2024, p. 01, doi. 10.3389/fgene.2024.1421952
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- Article
Identification of novel mutations and risk assessment of Han Chinese patients with autosomal dominant polycystic kidney disease.
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- Nephrology, 2019, v. 24, n. 5, p. 504, doi. 10.1111/nep.13270
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- Article
Cryptic splice site poisoning and meiotic arrest caused by a homozygous frameshift mutation in RBMXL2: A case report.
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- Andrologia, 2022, v. 54, n. 11, p. 1, doi. 10.1111/and.14595
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- Article
Novel androgen receptor gene variant containing a frameshift mutation in a patient with complete androgen insensitivity syndrome.
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- Andrologia, 2022, v. 54, n. 2, p. 1, doi. 10.1111/and.14292
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- Article
A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy.
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- Case Reports in Genetics, 2020, p. 1, doi. 10.1155/2020/2071738
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- Article
A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy.
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- Case Reports in Genetics, 2020, p. 1, doi. 10.1155/2020/2071738
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- Publication type:
- Article