Works matching DE "EXONS (Genetics)"
Results: 4682
MOLECULAR GENETIC ANALYSIS OF A SUPRASELLAR IMMATURE TERATOMA : MUTATION OF EXON 4 P53 GENE.
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- 2008
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- Publication type:
- Case Study
OPTIMIZATION OF PCR TECHNIQUE FOR THE EXONS OF TGFβ3 GENE IN NON-SYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE PATIENTS.
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- Malaysian Journal of Medical Sciences, 2008, p. 125
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- Publication type:
- Article
THE POSSIBLE ROLE OF PTGFR GENE POLYMORPHISM IN PREDICTING AN ACUTE ATTACK (AAC) OF PRIMARY ANGLE CLOSURE (PAC).
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- Malaysian Journal of Medical Sciences, 2008, p. 32
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- Publication type:
- Article
MOLECULAR ANALYSIS TEST OF SURVIVAL MOTOR NEURON GENE IN 118 MALAYSIAN SPINAL MUSCULAR ATROPHY (SMA) PATIENTS.
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- Malaysian Journal of Medical Sciences, 2008, p. 30
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- Publication type:
- Article
MUTATION ANALYSIS OF DYSTROPHIN GENE IN MALAYSIAN DUCHENNE MUSCULAR DYSTROPHY (DMD) PATIENTS.
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- Malaysian Journal of Medical Sciences, 2008, p. 28
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- Publication type:
- Article
RB1 GENE MUTATIONS AT POCKET B OF E1A DOMAIN AND CLINICAL PRESENTATION OF RETINOBLASTOMA CHILDREN IN MALAYSIA.
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- Malaysian Journal of Medical Sciences, 2008, p. 23
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- Publication type:
- Article
DETECTION OF CYCLIN D1 GENE ALTERATIONS USING DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY (DHPLC).
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- Malaysian Journal of Medical Sciences, 2006, v. 13, p. 192
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- Publication type:
- Article
THE POSSIBLE ASSOCIATION OF SINGLE NUCLEOTIDE POLYMORPHISM (SNP) AT 153,104 OF RB1 GENE WITH LATERALITY AND STAGING OF RETINOBLASTOMA : A PRELIMINARY REPORT.
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- Malaysian Journal of Medical Sciences, 2006, v. 13, p. 112
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- Publication type:
- Article
Inhibitor development in two patients with mild haemophilia A - spontaneous disappearance and no recurrence of the inhibitor after re-challenge.
- Published in:
- 2012
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- Publication type:
- Report
Mutations in the CCD4 Carotenoid Cleavage Dioxygenase Gene of Yellow-Flesh Peaches.
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- Bioscience, Biotechnology & Biochemistry, 2013, v. 77, n. 12, p. 2514, doi. 10.1271/bbb.130626
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- Publication type:
- Article
Common Amino Acid Sequences Deduced from Coding Exons of the Porcine FGF4 Gene in Two Breeds and Production of the Encoded Protein in Escherichia coli.
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- Bioscience, Biotechnology & Biochemistry, 2013, v. 77, n. 1, p. 173, doi. 10.1271/bbb.120698
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- Publication type:
- Article
Identification and Characterization of a Mycobacterial (2R,3R)-2,3-Butanediol Dehydrogenase.
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- Bioscience, Biotechnology & Biochemistry, 2011, v. 75, n. 12, p. 2384, doi. 10.1271/bbb.110607
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- Publication type:
- Article
Genes Encoding Carbocycle-Forming Enzymes Involved in Aminoglycoside Biosynthesis in Deep-Sea Environmental DNA.
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- Bioscience, Biotechnology & Biochemistry, 2010, v. 74, n. 5, p. 1102, doi. 10.1271/bbb.90901
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- Publication type:
- Article
A Group I Self-Splicing Intron in the Flagellin Gene of the Thermophilic Bacterium Geobacillus stearothermophilus.
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- Bioscience, Biotechnology & Biochemistry, 2009, v. 73, n. 12, p. 2758, doi. 10.1271/bbb.90400
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- Publication type:
- Article
Amino Acid Sequences of Porcine Fast and Slow Troponin T Isoforms.
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- Bioscience, Biotechnology & Biochemistry, 2006, v. 70, n. 3, p. 726, doi. 10.1271/bbb.70.726
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- Publication type:
- Article
Molecular Cloning and Expression Analysis of Two Hepcidin Genes from Olive Flounder Paralichthys olivaceus.
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- Bioscience, Biotechnology & Biochemistry, 2005, v. 69, n. 7, p. 1411, doi. 10.1271/bbb.69.1411
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- Article
Evolutionary history of exon shuffling.
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- Genetica, 2012, v. 140, n. 4-6, p. 249, doi. 10.1007/s10709-012-9676-3
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- Publication type:
- Article
Analysis of genes associated with retrotransposons in the rice genome.
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- Genetica, 2008, v. 134, n. 3, p. 297, doi. 10.1007/s10709-007-9237-3
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- Publication type:
- Article
The rice thermo-sensitive genic male sterility gene tms9: pollen abortion and gene isolation.
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- Euphytica, 2015, v. 203, n. 1, p. 145, doi. 10.1007/s10681-014-1285-z
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- Publication type:
- Article
RGA-ILP, a new type of functional molecular markers in bread wheat.
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- Euphytica, 2010, v. 172, n. 2, p. 263, doi. 10.1007/s10681-009-0063-9
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- Publication type:
- Article
Analysis of <italic>PLA2R1</italic> and <italic>HLA</italic>-<italic>DQA1</italic> sequence variants in Japanese patients with idiopathic and secondary membranous nephropathy.
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- Clinical & Experimental Nephrology, 2018, v. 22, n. 2, p. 275, doi. 10.1007/s10157-017-1471-0
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- Publication type:
- Article
Extragastrointestinal stromal tumor in a kidney transplant recipient.
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- Clinical & Experimental Nephrology, 2012, v. 16, n. 2, p. 350, doi. 10.1007/s10157-011-0550-x
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- Publication type:
- Article
Membranoproliferative pattern of glomerular injury associated with complement component 9 deficiency due to Arg95Stop mutation.
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- Clinical & Experimental Nephrology, 2011, v. 15, n. 1, p. 86, doi. 10.1007/s10157-010-0358-0
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- Publication type:
- Article
Beta-Catenin Mutation Does Not Seem to Have an Effect on the Tumorigenesis of Pediatric Rhabdomyosarcomas.
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- Pediatric & Developmental Pathology, 2009, v. 12, n. 5, p. 371, doi. 10.2350/08-11-0553.1
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- Publication type:
- Article
Mutational and Polymorphic Analysis of the Estradiol Receptor-a Gene in Men with Symptomatic Vertebral Fractures.
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- Calcified Tissue International, 2002, v. 71, n. 5, p. 400, doi. 10.1007/s00223-001-2040-8
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- Publication type:
- Article
IL-7 splicing variant IL-7δ5 induces EMT and metastasis of human breast cancer cell lines MCF-7 and BT-20 through activation of PI3K/Akt pathway.
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- Histochemistry & Cell Biology, 2014, v. 142, n. 4, p. 401, doi. 10.1007/s00418-014-1222-1
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- Publication type:
- Article
RNA-binding protein RBM8A (Y14) and MAGOH localize to centrosome in human A549 cells.
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- Histochemistry & Cell Biology, 2014, v. 141, n. 1, p. 101, doi. 10.1007/s00418-013-1135-4
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- Publication type:
- Article
Comparative immunolocalisation of fibrillin-1 and perlecan in the human foetal, and HS-deficient hspg2 exon 3 null mutant mouse intervertebral disc.
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- Histochemistry & Cell Biology, 2013, v. 139, n. 1, p. 1, doi. 10.1007/s00418-012-1041-1
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- Publication type:
- Article
Identification and subcellular localization of paracellin-1 (claudin-16) in human salivary glands.
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- Histochemistry & Cell Biology, 2007, v. 128, n. 1, p. 45, doi. 10.1007/s00418-007-0291-9
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- Publication type:
- Article
BAC constructs in transgenic reporter mouse lines control efficient and specific LacZ expression in hypertrophic chondrocytes under the complete Col10a1 promoter.
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- Histochemistry & Cell Biology, 2007, v. 127, n. 2, p. 183, doi. 10.1007/s00418-006-0236-8
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- Publication type:
- Article
The alternative use of exons 2 and 3 in cathepsin B mRNA controls enzyme trafficking and triggers nuclear fragmentation in human cells.
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- Histochemistry & Cell Biology, 2003, v. 119, n. 2, p. 93, doi. 10.1007/s00418-002-0487-y
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- Publication type:
- Article
Evaluation of the long-term storage stability of saliva as a source of human DNA.
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- Clinical Oral Investigations, 2013, v. 17, n. 7, p. 1719, doi. 10.1007/s00784-012-0871-5
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- Publication type:
- Article
Analysis of the interplay between methylation and expression reveals its potential role in cancer aetiology.
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- Functional & Integrative Genomics, 2017, v. 17, n. 1, p. 53, doi. 10.1007/s10142-016-0533-9
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- Publication type:
- Article
Novel mechanism of conjoined gene formation in the human genome.
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- Functional & Integrative Genomics, 2012, v. 12, n. 1, p. 45, doi. 10.1007/s10142-011-0260-1
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- Publication type:
- Article
Alternative splicing, activation of cryptic exons and amino acid substitutions in carotenoid biosynthetic genes are associated with lutein accumulation in wheat endosperm.
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- Functional & Integrative Genomics, 2009, v. 9, n. 3, p. 363, doi. 10.1007/s10142-009-0121-3
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- Publication type:
- Article
The PIP and TIP aquaporins in wheat form a large and diverse family with unique gene structures and functionally important features.
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- Functional & Integrative Genomics, 2008, v. 8, n. 2, p. 115, doi. 10.1007/s10142-007-0065-4
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- Publication type:
- Article
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.
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- Archives of Dermatological Research, 2009, v. 301, n. 5, p. 391, doi. 10.1007/s00403-008-0903-9
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- Publication type:
- Article
A novel 22-bp deletion mutation in a Chinese family with X-linked hypohidrotic ectodermal dysplasia.
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- Archives of Dermatological Research, 2008, v. 300, n. 7, p. 389, doi. 10.1007/s00403-008-0855-0
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- Publication type:
- Article
A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria.
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- Archives of Dermatological Research, 2007, v. 299, n. 5/6, p. 273, doi. 10.1007/s00403-007-0762-9
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- Publication type:
- Article
CADASIL and Autoimmunity: Coexistence in a Family with the R169C Mutation at Exon 4 of the NOTCH3 Gene.
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- Cerebrovascular Diseases, 2014, v. 38, n. 4, p. 302, doi. 10.1159/000369000
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- Publication type:
- Article
Auxiliary splice factor U2AF26 and transcription factor Gfi1 cooperate directly in regulating CD45 alternative splicing.
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- Nature Immunology, 2006, v. 7, n. 8, p. 859, doi. 10.1038/ni1361
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- Publication type:
- Article
A cis element in the recombination activating gene locus regulates gene expression by counteracting a distant silencer.
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- Nature Immunology, 2004, v. 5, n. 4, p. 443, doi. 10.1038/ni1053
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- Publication type:
- Article
ACTN3/ EXON-19 GENE POLYMORPHISM AND ASSOCIATION WITH THOROUGHBRED HORSES PERFORMANCE IN IRAQ.
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- Iraq Journal of Market Research & Consumer Protection / Al-Mağallaẗ al-ʿIrāqiyyaẗ li-Buḥūṯ al-Sūq wa-Ḥimāyaẗ al-Mustahlik, 2023, v. 15, n. 2, p. 105, doi. 10.28936/10.28936/(1)jmracpc11.2.2019
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- Publication type:
- Article
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy.
- Published in:
- Human Genetics, 2023, v. 142, n. 1, p. 59, doi. 10.1007/s00439-022-02485-2
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- Publication type:
- Article
Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA.
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- Human Genetics, 2022, v. 141, n. 2, p. 239, doi. 10.1007/s00439-021-02408-7
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- Publication type:
- Article
A novel variant in GPAA1, encoding a GPI transamidase complex protein, causes inherited vascular anomalies with various phenotypes.
- Published in:
- Human Genetics, 2020, v. 139, n. 12, p. 1499, doi. 10.1007/s00439-020-02192-w
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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
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
- Published in:
- Human Genetics, 2019, v. 138, n. 3, p. 241, doi. 10.1007/s00439-019-01983-0
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- Publication type:
- Article
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.
- Published in:
- Human Genetics, 2019, v. 138, n. 3, p. 211, doi. 10.1007/s00439-019-01978-x
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- Publication type:
- Article
Bayesian Analysis of RNA-Seq Data Using a Family of Negative Binomial Models.
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- Bayesian Analysis, 2018, v. 13, n. 2, p. 411, doi. 10.1214/17-BA1055
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- Publication type:
- Article