Works about MISSENSE mutation
Results: 4229
Biallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection.
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- Nephrology, 2025, v. 30, n. 1, p. 1, doi. 10.1111/nep.14423
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- Article
Comprehensive Analysis of TEK Variants in Patients With Vascular Malformations.
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- Clinical Genetics, 2025, v. 107, n. 4, p. 458, doi. 10.1111/cge.14667
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- Article
A missense mutation in the KCNE4 gene is not predictive of equine anhidrosis.
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- Animal Genetics, 2025, v. 56, n. 1, p. 1, doi. 10.1111/age.70004
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- Article
Identification of a de novo missense variant in the BRI3BP gene in a Holstein calf with congenital cardiac malformation and carpus valgus.
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- Animal Genetics, 2025, v. 56, n. 1, p. 1, doi. 10.1111/age.13494
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- Article
Investigation of the effect of missense mutations in AHR and DNAH11 on feed conversion ratio and average daily residual feed intake in Duroc, Landrace and Yorkshire pigs.
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- Animal Genetics, 2025, v. 56, n. 1, p. 1, doi. 10.1111/age.13492
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- Article
Suppression of stress granule formation is a vulnerability imposed by mutant p53.
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- Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-57539-6
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- Article
A novel c.1468 G > A GRN mutation causes frontotemporal dementia in a Chinese Han family.
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- European Journal of Medical Research, 2025, v. 30, n. 1, p. 1, doi. 10.1186/s40001-025-02418-5
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- Article
The novel SERPINC1 missense mutation c.1148 T > A (p.L383H) causes hereditary antithrombin deficiency and thromboembolism in a Chinese family: a case report.
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- 2025
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- Case Study
A Case Study Identified a New Mutation in the TTN Gene for Inherited Hypertrophic Cardiomyopathy.
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- International Journal of General Medicine, 2025, v. 18, p. 447, doi. 10.2147/IJGM.S505865
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- Article
Novel non-synonymous and synonymous gene variants of SRD5A2 in patients with 46,XY-DSD and DSD-free subjects.
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- PLoS ONE, 2025, v. 20, n. 3, p. 1, doi. 10.1371/journal.pone.0316497
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- Article
Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish.
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- Brain Communications, 2025, v. 7, n. 1, p. 1, doi. 10.1093/braincomms/fcaf055
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- Article
Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
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- Brain Communications, 2025, v. 7, n. 1, p. 1, doi. 10.1093/braincomms/fcae453
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- Article
Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization.
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- Acta Neuropathologica Communications, 2025, v. 13, n. 1, p. 1, doi. 10.1186/s40478-025-01971-8
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- Article
Hereditary non-spherocytic hemolytic anemia with GPI mutations successfully treated with allogeneic hematopoietic stem cell transplantation: a first report of two cases.
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- 2025
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- Case Study
Case Report: a novel CYP27A1 gene variant in a patient with cerebrotendinous xanthomatosis with unusual clinical findings.
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- International Journal of Neuroscience, 2025, v. 135, n. 3, p. 358, doi. 10.1080/00207454.2023.2300735
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- Article
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
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.
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- NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00480-w
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- Article
Disruption of the moonlighting function of CTF18 in a patient with T-lymphopenia.
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- Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1539848
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- Article
Functional Investigation of a Novel PIWIL4 Mutation in Nonobstructive Azoospermia During the First Wave of Spermatogenesis.
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- Biomolecules (2218-273X), 2025, v. 15, n. 2, p. 297, doi. 10.3390/biom15020297
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- Article
Biophysical Properties of Somatic Cancer Mutations in the S4 Transmembrane Segment of the Human Voltage-Gated Proton Channel hH V 1.
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- Biomolecules (2218-273X), 2025, v. 15, n. 2, p. 156, doi. 10.3390/biom15020156
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- Article
Functional Testing of ETV6 Variants: Is the Evaluation of Their Intracellular Localization Sufficient in Assessing Pathogenicity?
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- Genes, 2025, v. 16, n. 2, p. 112, doi. 10.3390/genes16020112
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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
Missense Mutations in FDNC5 Associated with Morphometric Traits and Meat Quality in Hainan Black Goats.
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- Animals (2076-2615), 2025, v. 15, n. 4, p. 565, doi. 10.3390/ani15040565
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- Article
The emerging role of glycine receptor α2 subunit defects in neurodevelopmental disorders.
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- Frontiers in Molecular Neuroscience, 2025, p. 1, doi. 10.3389/fnmol.2025.1550863
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- Article
Evaluation of Risk Factors and a Gene Panel as a Tool for Unexplained Infertility Diagnosis by Next-Generation Sequencing.
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- Medicina (1010660X), 2025, v. 61, n. 2, p. 271, doi. 10.3390/medicina61020271
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- Article
Polymorphic Variants of Peptidylarginine Deiminase Gene from P. gingivalis —Searching for Targets for Supportive Therapy of Periodontitis.
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- International Journal of Molecular Sciences, 2025, v. 26, n. 4, p. 1662, doi. 10.3390/ijms26041662
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- Article
Novel Pathogenic Variant of the TRRAP Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing Loss.
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- International Journal of Molecular Sciences, 2025, v. 26, n. 4, p. 1583, doi. 10.3390/ijms26041583
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- Article
Expanding the Genetic and Clinical Spectrum of SCN1A -Related Hemiplegic Migraine: Analysis of Mutations in Japanese.
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- International Journal of Molecular Sciences, 2025, v. 26, n. 4, p. 1426, doi. 10.3390/ijms26041426
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- Article
Ortholog of autism candidate gene RBM27 regulates mitoribosomal assembly factor MALS-1 to protect against mitochondrial dysfunction and axon degeneration during neurodevelopment.
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- PLoS Biology, 2024, v. 22, n. 10, p. 1, doi. 10.1371/journal.pbio.3002876
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- Article
AlphaFold2-guided engineering of split-GFP technology enables labeling of endogenous tubulins across species while preserving function.
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- PLoS Biology, 2024, v. 22, n. 8, p. 1, doi. 10.1371/journal.pbio.3002615
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- Article
Photochemical Characterization of Phytochrome Missense Mutants.
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- Bioscience, Biotechnology & Biochemistry, 2011, v. 75, n. 12, p. 2411, doi. 10.1271/bbb.110555
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- Article
Kit receptor tyrosine kinase dysregulations in feline splenic mast cell tumours.
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- Veterinary & Comparative Oncology, 2017, v. 15, n. 3, p. 1051, doi. 10.1111/vco.12246
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- Article
Identification and bioinformatic characterization of rare variants of Rhododendron canescens architecture genes.
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- Euphytica, 2022, v. 218, n. 6, p. 1, doi. 10.1007/s10681-022-03019-7
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- Article
Genotyping-by-sequencing based QTL mapping identified a novel waxy allele contributing to high amylose starch in wheat.
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- Euphytica, 2021, v. 217, n. 6, p. 1, doi. 10.1007/s10681-021-02861-5
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- Article
Genetic variations underlying anthocyanin accumulation in tomato fruits.
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- Euphytica, 2019, v. 215, n. 12, p. 1, doi. 10.1007/s10681-019-2519-x
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- Article
A clinically‐relevant residue of POLR1D is required for Drosophila development.
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- Developmental Dynamics, 2022, v. 251, n. 11, p. 1780, doi. 10.1002/dvdy.505
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- Article
The Mafb cleft‐associated variant H131Q is not required for palatogenesis in the mouse.
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- Developmental Dynamics, 2021, v. 250, n. 10, p. 1463, doi. 10.1002/dvdy.327
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- Article
Pair analysis and custom array CGH can detect a small copy number variation in COQ6 gene.
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- Clinical & Experimental Nephrology, 2019, v. 23, n. 5, p. 669, doi. 10.1007/s10157-018-1682-z
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- Article
Effect of heterozygous deletion of WNK1 on the WNK-OSR1/SPAK-NCC/NKCC1/NKCC2 signal cascade in the kidney and blood vessels.
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- Clinical & Experimental Nephrology, 2012, v. 16, n. 4, p. 530, doi. 10.1007/s10157-012-0590-x
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- Article
A missense variant Arg611Cys in LIPE which encodes hormone sensitive lipase decreases lipolysis and increases risk of type 2 diabetes in American Indians.
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- Diabetes/Metabolism Research & Reviews, 2022, v. 38, n. 3, p. 1, doi. 10.1002/dmrr.3504
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- Article
Heme oxygenase-1 deficiency as an extremely rare cause of AA-type renal amyloidosis: Expanding the clinical features and review of the literature.
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- Clinical Rheumatology, 2023, v. 42, n. 2, p. 597, doi. 10.1007/s10067-022-06465-9
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- Article
A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature.
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- Clinical Rheumatology, 2020, v. 39, n. 3, p. 949, doi. 10.1007/s10067-019-04801-0
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- Article
Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation.
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- Archives of Dermatological Research, 2015, v. 307, n. 10, p. 891, doi. 10.1007/s00403-015-1597-4
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- Article
A newly identified missense mutation of the EDA1 gene in a Hungarian patient with Christ-Siemens-Touraine syndrome.
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- Archives of Dermatological Research, 2014, v. 306, n. 1, p. 97, doi. 10.1007/s00403-013-1408-8
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- Article
A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities.
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- Archives of Dermatological Research, 2012, v. 304, n. 8, p. 679, doi. 10.1007/s00403-012-1244-2
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- Publication type:
- Article
Prediction of functionally significant single nucleotide polymorphisms in PTEN tumor suppressor gene: An in silico approach.
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- Biotechnology & Applied Biochemistry, 2017, v. 64, n. 5, p. 657, doi. 10.1002/bab.1483
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- Article
Orlistat response to missense mutations in lipoprotein lipase.
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- Biotechnology & Applied Biochemistry, 2017, v. 64, n. 4, p. 464, doi. 10.1002/bab.1500
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- Article
The Investigation of the Effects of a Novel Missense Mutation in Katanin-like 2 (KATNAL2) Gene on Microtubulerelated Proteins in Patient Fibroblasts Using a Proteomic Approach.
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- Journal of Tepecik Education & Research Hospital / İzmir Tepecik Eğitim ve Araştırma Hastanesi Dergisi, 2022, v. 32, n. 3, p. 459, doi. 10.4274/terh.galenos.2022.76093
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- Article
A CONTRIBUIÇÃO GENÉTICA NO DESENVOLVIMENTO DE DOENÇAS PRIÔNICAS: REVISÃO SISTEMÁTICA.
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- Revista Foco (Interdisciplinary Studies Journal), 2023, v. 16, n. 6, p. 1, doi. 10.54751/revistafoco.v16n6-096
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- Article
Site-specific incorporation of <sup>19</sup>F-nuclei at protein C-terminus to probe allosteric conformational transitions of metalloproteins.
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- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-07331-x
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- Article