Works matching DE "FRAMESHIFT mutation"
Results: 1111
Establishment of regeneration system of Pyrus and the genetic stability analysis of regenerated population.
- Published in:
- Plant Cell, Tissue & Organ Culture, 2023, v. 152, n. 1, p. 215, doi. 10.1007/s11240-022-02378-2
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- Publication type:
- Article
Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions.
- Published in:
- 2016
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- Publication type:
- journal article
Ocular alterations, molecular findings, and three novel pathological mutations in a series of NF2 patients.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2019, v. 257, n. 7, p. 1453, doi. 10.1007/s00417-019-04348-5
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- Publication type:
- Article
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
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- Acta Neuropathologica, 2023, v. 145, n. 6, p. 793, doi. 10.1007/s00401-023-02565-1
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- Publication type:
- Article
Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults.
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- Acta Neuropathologica, 2020, v. 139, n. 2, p. 277, doi. 10.1007/s00401-019-02094-w
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- Publication type:
- Article
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
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- Acta Neuropathologica, 2017, v. 134, n. 1, p. 163, doi. 10.1007/s00401-017-1724-8
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- Publication type:
- Article
Molecular biology: Antibiotic re-frames decoding.
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- Nature, 2013, v. 503, n. 7477, p. 478, doi. 10.1038/503478a
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping.
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- Journal of Neurogenetics, 2016, v. 30, n. 1, p. 1, doi. 10.3109/01677063.2016.1141208
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- Publication type:
- Article
Mutations in embB 406 Are Associated with Low-Level Ethambutol Resistance in Canadian Mycobacterium tuberculosis Isolates.
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- Antibiotics (2079-6382), 2024, v. 13, n. 7, p. 624, doi. 10.3390/antibiotics13070624
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- Publication type:
- Article
Clonal Complexes Distribution of Staphylococcus aureus Isolates from Clinical Samples from the Caribbean Islands.
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- Antibiotics (2079-6382), 2023, v. 12, n. 6, p. 1050, doi. 10.3390/antibiotics12061050
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- Publication type:
- Article
Two independent loss‐of‐function mutations in anthocyanidin synthase homeologous genes are responsible for the all‐green phenotype of sweet basil.
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- Physiologia Plantarum, 2023, v. 175, n. 1, p. 1, doi. 10.1111/ppl.13870
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- Publication type:
- Article
Genetic Mapping and Discovery of the Candidate Gene for Black Seed Coat Color in Watermelon (Citrullus lanatus).
- Published in:
- Frontiers in Plant Science, 2020, v. 10, p. 1, doi. 10.3389/fpls.2019.01689
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- Publication type:
- Article
Creation of Early Flowering Germplasm of Soybean by CRISPR/Cas9 Technology.
- Published in:
- Frontiers in Plant Science, 2019, v. 10, p. 1, doi. 10.3389/fpls.2019.01446
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- Publication type:
- Article
Case Report: Lung adenocarcinoma associated with germline ERCC2 frameshift mutation.
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- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1177942
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- Publication type:
- Article
A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.1060547
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- Publication type:
- Article
Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5.
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- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01085
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- Publication type:
- Article
A Novel RAG1 Mutation in a Compound Heterozygous Status in a Child With Omenn Syndrome.
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- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00913
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- Publication type:
- Article
Novel SCN5A Frameshift Mutation in Brugada Syndrome Associated With Complex Arrhythmic Phenotype.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00547
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- Publication type:
- Article
Comparative FISH-Mapping of MC1R , ASIP , and TYRP1 in New and Old World Camelids and Association Analysis With Coat Color Phenotypes in the Dromedary (Camelus dromedarius).
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00340
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- Publication type:
- Article
Hereditary C1 inhibitor deficiency associated with systemic lupus erythematosus.
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- Lupus, 2020, v. 29, n. 11, p. 1456, doi. 10.1177/0961203320935980
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- Publication type:
- Article
A Novel Homozygous Mutation in the Solute Carrier Family 26 Member 7 Gene Causes Thyroid Dyshormonogenesis in a Girl with Congenital Hypothyroidism.
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- Thyroid, 2020, v. 30, n. 12, p. 1831, doi. 10.1089/thy.2020.0293
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- Publication type:
- Article
A Truncating Germline Mutation of TINF2 in Individuals with Thyroid Cancer or Melanoma Results in Longer Telomeres.
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- Thyroid, 2020, v. 30, n. 2, p. 204, doi. 10.1089/thy.2019.0156
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- Publication type:
- Article
Is HLA type a possible cancer risk modifier in Lynch syndrome?
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- International Journal of Cancer, 2023, v. 152, n. 10, p. 2024, doi. 10.1002/ijc.34312
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- Publication type:
- Article
Oncogenic CALR mutant C-terminus mediates dual binding to the thrombopoietin receptor triggering complex dimerization and activation.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37277-3
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- Publication type:
- Article
Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-022-35724-1
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- Publication type:
- Article
Mutant RIG-I enhances cancer-related inflammation through activation of circRIG-I signaling.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34885-3
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- Publication type:
- Article
Distinctive roles of translesion polymerases DinB1 and DnaE2 in diversification of the mycobacterial genome through substitution and frameshift mutagenesis.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32022-8
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- Publication type:
- Article
Different metabolite profiles across Penicillium roqueforti populations associated with ecological niche specialisation and domestication.
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- IMA Fungus, 2024, v. 15, n. 1, p. 1, doi. 10.1186/s43008-024-00167-4
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- Publication type:
- Article
A 5-Year-Old Palestinian Bedouin Girl with Repeated Self-Induced Injuries to the Digits, a Diagnosis of Congenital Insensitivity to Pain, and Anhidrosis.
- Published in:
- 2021
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- Publication type:
- Case Study
Venous Thrombosis in a Pseudohypoparathyroidism Patient with a Novel GNAS Frameshift Mutation and Complete Resolution of Vascular Calcifications with Acetazolamide Treatment.
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- Hormone Research in Paediatrics, 2024, v. 97, n. 4, p. 404, doi. 10.1159/000534456
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- Publication type:
- Article
A New Homozygous Frameshift Mutation in the HSD3B2 Gene in an Apparently Nonconsanguineous Italian Family.
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- Hormone Research in Paediatrics, 2016, v. 86, n. 1, p. 53, doi. 10.1159/000444712
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- Publication type:
- Article
Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency.
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- Hormone Research in Paediatrics, 2016, v. 85, n. 5, p. 358, doi. 10.1159/000443684
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- Publication type:
- Article
NR5A1 Gene Mutations: Clinical, Endocrine and Genetic Features in Two Girls with 46,XY Disorder of Sex Development.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 2, p. 104, doi. 10.1159/000354990
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- Publication type:
- Article
De novo Frameshift Mutation in Fibroblast Growth Factor 8 in a Male Patient with Gonadotropin Deficiency.
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- Hormone Research in Paediatrics, 2014, v. 81, n. 2, p. 139, doi. 10.1159/000355380
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- Publication type:
- Article
Isolated Central Hypothyroidism in Young Siblings as a Manifestation of PROP1 Deficiency: Clinical Impact of Whole Exome Sequencing.
- Published in:
- Hormone Research in Paediatrics, 2013, v. 79, n. 6, p. 379, doi. 10.1159/000350013
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- Publication type:
- Article
Immortalization of primary marmoset skin fibroblasts by CRISPR-Cas9-mediated gene targeting.
- Published in:
- Animal Cells & Systems, 2022, v. 26, n. 6, p. 266, doi. 10.1080/19768354.2022.2151509
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- Publication type:
- Article
Screening Key Genes Related to Nitrogen Use Efficiency in Cucumber Through Weighted Gene Co-Expression Network Analysis.
- Published in:
- Genes, 2024, v. 15, n. 12, p. 1505, doi. 10.3390/genes15121505
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- Publication type:
- Article
PURA -Related Neurodevelopmental Disorders with Epilepsy Treated with Ketogenic Diet: A Case-Based Review.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group C.
- Published in:
- Genes, 2023, v. 14, n. 11, p. 2079, doi. 10.3390/genes14112079
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- Publication type:
- Article
A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature.
- Published in:
- Genes, 2023, v. 14, n. 10, p. 1909, doi. 10.3390/genes14101909
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- Publication type:
- Article
Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene.
- Published in:
- Genes, 2023, v. 14, n. 5, p. 1080, doi. 10.3390/genes14051080
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- Publication type:
- Article
Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes–Brocks Syndrome.
- Published in:
- Genes, 2023, v. 14, n. 2, p. 258, doi. 10.3390/genes14020258
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- Publication type:
- Article
Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 103, doi. 10.3390/genes14010103
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- Publication type:
- Article
Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2 , BBS7, and EVC2 Mutations.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 84, doi. 10.3390/genes14010084
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- Publication type:
- Article
Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome.
- Published in:
- Genes, 2022, v. 13, n. 12, p. 2364, doi. 10.3390/genes13122364
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- Publication type:
- Article
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.
- Published in:
- Genes, 2022, v. 13, n. 12, p. 2198, doi. 10.3390/genes13122198
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- Publication type:
- Article
EHBP1L1 Frameshift Deletion in English Springer Spaniel Dogs with Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) or Neonatal Losses.
- Published in:
- Genes, 2022, v. 13, n. 9, p. 1533, doi. 10.3390/genes13091533
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- Publication type:
- Article