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Academic Journal

Competitive allele-specific TaqMan PCR (Cast-PCR) is a sensitive, specific and fast method for BRAF V600 mutation detection in Melanoma patients.

Authors : Barbano R; Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotundo (FG) 71013, Italy.; Pasculli B

Subjects: Alleles*; Melanoma/Melanoma/Melanoma/*genetics ; Mutation/Mutation/Mutation/*genetics

Source: Scientific reports [Sci Rep] 2015 Dec 22; Vol. 5, pp. 18592. Date of Electronic Publication: 2015 Dec 22.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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Academic Journal

Disruption of OsEXO70A1 Causes Irregular Vascular Bundles and Perturbs Mineral Nutrient Assimilation in Rice.

Authors : Tu B; Rice Research Institute of Sichuan Agricultural University, Chengdu Wenjiang, Sichuan, 611130, PR China.; State Key Laboratory of Hybrid Rice, Sichuan Agricultural University, Chengdu Wenjiang, Sichuan, 611130, PR China.

Subjects: Minerals/Minerals/Minerals/*metabolism ; Mutation/Mutation/Mutation/*genetics ; Oryza/Oryza/Oryza/*genetics

Source: Scientific reports [Sci Rep] 2015 Dec 22; Vol. 5, pp. 18609. Date of Electronic Publication: 2015 Dec 22.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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Academic Journal

Diiron centre mutations in Ciona intestinalis alternative oxidase abolish enzymatic activity and prevent rescue of cytochrome oxidase deficiency in flies.

Authors : Andjelković A; BioMediTech and Tampere University Hospital, University of Tampere, FI-33014, Finland.; Oliveira MT

Subjects: Mutation*; Ciona intestinalis/Ciona intestinalis/Ciona intestinalis/*enzymology ; Drosophila melanogaster/Drosophila melanogaster/Drosophila melanogaster/*enzymology

Source: Scientific reports [Sci Rep] 2015 Dec 17; Vol. 5, pp. 18295. Date of Electronic Publication: 2015 Dec 17.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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Academic Journal

Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family.

Authors : Gong B; Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.; Liu L

Subjects: Genetic Association Studies* ; Heterozygote* ; Mutation*

Source: Scientific reports [Sci Rep] 2015 Dec 15; Vol. 5, pp. 17947. Date of Electronic Publication: 2015 Dec 15.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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Academic Journal

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.

Authors : Lehmann D; Department of Neurology, University of Halle-Wittenberg, Halle (Saale), Germany.; Schubert K

Subjects: Mutation*; DNA, Mitochondrial/DNA, Mitochondrial/DNA, Mitochondrial/*genetics ; Muscular Diseases/Muscular Diseases/Muscular Diseases/*genetics

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1735-8. Date of Electronic Publication: 2015 Apr 15.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

CMV promoter mutants with a reduced propensity to productivity loss in CHO cells.

Authors : Moritz B; Roche Pharmaceutical Research and Early Development, Large Molecule Research, Roche Innovation Center Penzberg, Germany.; Becker PB

Subjects: Promoter Regions, Genetic*; Cytomegalovirus/Cytomegalovirus/Cytomegalovirus/*genetics ; Mutation/Mutation/Mutation/*genetics

Source: Scientific reports [Sci Rep] 2015 Nov 19; Vol. 5, pp. 16952. Date of Electronic Publication: 2015 Nov 19.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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Academic Journal

Efficient Generation of Myostatin Mutations in Pigs Using the CRISPR/Cas9 System.

Authors : Wang K; Jilin Provincial Key Laboratory of Animal Embryo Engineering, College of Animal Sciences, Jilin University, Changchun, Jilin Province, People's Republic of China.; Ouyang H

Subjects: Mutation*; CRISPR-Cas Systems/CRISPR-Cas Systems/CRISPR-Cas Systems/*genetics ; Gene Targeting/Gene Targeting/Gene Targeting/*methods

Source: Scientific reports [Sci Rep] 2015 Nov 13; Vol. 5, pp. 16623. Date of Electronic Publication: 2015 Nov 13.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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Academic Journal

Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin.

Authors : Huang J; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.; Zhang X

Subjects: Anemia, Hypochromic/Anemia, Hypochromic/Anemia, Hypochromic/*genetics ; Fetal Hemoglobin/Fetal Hemoglobin/Fetal Hemoglobin/*genetics ; Kruppel-Like Transcription Factors/Kruppel-Like Transcription Factors/Kruppel-Like Transcription Factors/*genetics Anemia, hypochromic microcytic

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Oct; Vol. 23 (10), pp. 1341-8. Date of Electronic Publication: 2015 Jan 14.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

Diabetic pdx1-mutant zebrafish show conserved responses to nutrient overload and anti-glycemic treatment.

Authors : Kimmel RA; Institute of Molecular Biology/CMBI; Leopold-Francis University of Innsbruck, Technikerstrasse 25, A-6020 Innsbruck, Austria.

Subjects: Animal Feed* ; Animal Nutritional Physiological Phenomena* ; Mutation*

Source: Scientific reports [Sci Rep] 2015 Sep 18; Vol. 5, pp. 14241. Date of Electronic Publication: 2015 Sep 18.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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Academic Journal

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.

Authors : Nikopoulos K; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.; Avila-Fernandez A

Subjects: Consanguinity* ; Genes, Recessive* ; Mutation*

Source: Scientific reports [Sci Rep] 2015 Sep 09; Vol. 5, pp. 13902. Date of Electronic Publication: 2015 Sep 09.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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نتائج البحث

فلترة النتائج

Competitive allele-specific TaqMan PCR (Cast-PCR) is a sensitive, specific and fast method for BRAF V600 mutation detection in Melanoma patients.

Disruption of OsEXO70A1 Causes Irregular Vascular Bundles and Perturbs Mineral Nutrient Assimilation in Rice.

Diiron centre mutations in Ciona intestinalis alternative oxidase abolish enzymatic activity and prevent rescue of cytochrome oxidase deficiency in flies.

Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family.

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.

CMV promoter mutants with a reduced propensity to productivity loss in CHO cells.

Efficient Generation of Myostatin Mutations in Pigs Using the CRISPR/Cas9 System.

Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin.

Diabetic pdx1-mutant zebrafish show conserved responses to nutrient overload and anti-glycemic treatment.

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.

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