Search Results

Gene mutational pattern and expression level in 560 acute myeloid leukemia patients and their clinical relevance.

• Authors : Yong-Mei Zhu¹; Pan-Pan Wang¹; Jin-Yan Huang¹

• Source: Journal of Translational Medicine. 8/22/2017, Vol. 15, p1-12. 12p.

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Novel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome.

• Authors : Yanhong Chen^1,2; Barajas-Martinez, Hector³; Dongxiao Zhu²

• Source: Journal of Translational Medicine. 4/20/2017, Vol. 15, p1-10. 10p.

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Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.

• Authors : Jiang Y; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, 54 Xianlie Road, Guangzhou, 510060, China.; Xiao X

Subjects: Amblyopia*/Amblyopia*/Amblyopia*/complications ; Myopia*/Myopia*/Myopia*/genetics ; Arthritis* Stickler syndrome, type 1

• Source: Journal of translational medicine [J Transl Med] 2024 Jan 19; Vol. 22 (1), pp. 75. Date of Electronic Publication: 2024 Jan 19.Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876

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The Italian external quality assessment for RAS testing in colorectal carcinoma identifies methods-related inter-laboratory differences.

• Authors : Normanno N; Cell Biology and Biotherapy Unit, Istituto Nazionale per lo Studio e la Cura dei Tumori 'Fondazione Giovanni Pascale'-IRCCS, Via M. Semmola, 80131, Naples, Italy. .; Laboratory of Pharmacogenomics, Centro di Ricerche Oncologiche di Mercogliano (CROM), Istituto Nazionale Tumori 'Fondazione Giovanni Pascale' IRCCS, Naples, Italy. .

Subjects: Laboratory Proficiency Testing*; Colorectal Neoplasms/Colorectal Neoplasms/Colorectal Neoplasms/*diagnosis ; Colorectal Neoplasms/Colorectal Neoplasms/Colorectal Neoplasms/*genetics

• Source: Journal of translational medicine [J Transl Med] 2015 Sep 03; Vol. 13, pp. 287. Date of Electronic Publication: 2015 Sep 03.Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876

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Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics.

• Authors : Kim, Bong Jik^1,2 ; Jang, Jeong Hun³ ; Han, Jin Hee²

• Source: Journal of Translational Medicine. 11/27/2018, Vol. 16 Issue 1, pN.PAG-N.PAG. 1p.

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Recombinant mouse periostin ameliorates coronal sutures fusion in Twist1+/- mice.

• Authors : Bai, Shanshan¹ ; Li, Dong¹ ; Xu, Liang¹

• Source: Journal of Translational Medicine. 4/17/2018, Vol. 16 Issue 1, pN.PAG-N.PAG. 1p.

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Investigation of the genetic variation in ACE2 on the structural recognition by the novel coronavirus (SARS-CoV-2).

• Authors : Guo X; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University School of Medicine, Nashville, TN, 37203, USA. .; Department of Biomedical Informatics and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, 37203, USA. .

Subjects: Mutation, Missense*; Betacoronavirus/Betacoronavirus/Betacoronavirus/*physiology ; Peptidyl-Dipeptidase A/Peptidyl-Dipeptidase A/Peptidyl-Dipeptidase A/*genetics

• Source: Journal of translational medicine [J Transl Med] 2020 Aug 24; Vol. 18 (1), pp. 321. Date of Electronic Publication: 2020 Aug 24.Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876

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Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants.

• Authors : González-Del Pozo M; Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/CSIC/University of Seville, Avenida Manuel Siurot s/n, 41013, Seville, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Seville, Spain.

Subjects: Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/diagnosis ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics; Algorithms

• Source: Journal of translational medicine [J Transl Med] 2020 Feb 12; Vol. 18 (1), pp. 73. Date of Electronic Publication: 2020 Feb 12.Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876

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Mutational landscape of gastric cancer and clinical application of genomic profiling based on target next-generation sequencing.

• Authors : Cai H; Department of Gastrointestinal Surgery, Changhai Hospital, The Second Military Medical University, 168 Changhai Road, Yangpu District, Shanghai, 200433, China.; Jing C

Subjects: Biomarkers, Tumor/Biomarkers, Tumor/Biomarkers, Tumor/*genetics ; DNA Mutational Analysis/DNA Mutational Analysis/DNA Mutational Analysis/*methods ; Gene Expression Profiling/Gene Expression Profiling/Gene Expression Profiling/*methods

• Source: Journal of translational medicine [J Transl Med] 2019 Jun 04; Vol. 17 (1), pp. 189. Date of Electronic Publication: 2019 Jun 04.Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876

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NPM1 alternative transcripts are upregulated in acute myeloid and lymphoblastic leukemia and their expression level affects patient outcome.

• Authors : Handschuh L; European Centre for Bioinformatics and Genomics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, Noskowskiego 12/14, 61-704, Poznan, Poland. .; Department of Hematology and Bone Marrow Transplantation, Poznan University of Medical Sciences, Szamarzewskiego 84, 60-569, Poznan, Poland. .

Subjects: Gene Expression Regulation, Leukemic*; Leukemia, Myeloid, Acute/Leukemia, Myeloid, Acute/Leukemia, Myeloid, Acute/*metabolism ; Nuclear Proteins/Nuclear Proteins/Nuclear Proteins/*metabolism

• Source: Journal of translational medicine [J Transl Med] 2018 Aug 20; Vol. 16 (1), pp. 232. Date of Electronic Publication: 2018 Aug 20.Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876

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