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Academic Journal

Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation exhibit a photoreceptor developmental delay and are rescued by gene augmentation therapy.

  • Authors : Duan C; Aier School of Ophthalmology, Central South University, Changsha, Hunan, China.; Aier Eye Institute, Changsha, Hunan, China.

Subjects: Retinoschisis*/Retinoschisis*/Retinoschisis*/genetics ; Retinoschisis*/Retinoschisis*/Retinoschisis*/therapy ; Retinoschisis*/Retinoschisis*/Retinoschisis*/pathology

  • Source: Stem cell research & therapy [Stem Cell Res Ther] 2024 May 31; Vol. 15 (1), pp. 152. Date of Electronic Publication: 2024 May 31.Publisher: BioMed Central Country of Publication: England NLM ID: 101527581 Publication Model: Electronic Cited Medium:

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Academic Journal

Autoimmune polyglandular syndrome type 1 with diabetes insipidus: a case report.

  • Authors : Chen J; Department of Endocrinology and Metabolism, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, Jiangsu, China.; Lu T

Subjects: Genetic Predisposition to Disease* ; Mutation*; Diabetes Insipidus/Diabetes Insipidus/Diabetes Insipidus/*pathology

  • Source: BMC endocrine disorders [BMC Endocr Disord] 2021 Aug 03; Vol. 21 (1), pp. 154. Date of Electronic Publication: 2021 Aug 03.Publisher: BioMed Central Country of Publication: England NLM ID: 101088676 Publication Model: Electronic Cited Medium:

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Academic Journal

Profiling SARS-CoV-2 mutation fingerprints that range from the viral pangenome to individual infection quasispecies.

  • Authors : Lau BT; Division of Oncology, Department of Medicine, Stanford University School of Medicine, 269 Campus Drive, CCSR 1120, Stanford, CA, 94305-5151, USA.; Stanford Genome Technology Center West, Stanford University, Palo Alto, CA, 94304, USA.

Subjects: Genome, Viral* ; Mutation*; COVID-19/COVID-19/COVID-19/*virology

  • Source: Genome medicine [Genome Med] 2021 Apr 19; Vol. 13 (1), pp. 62. Date of Electronic Publication: 2021 Apr 19.Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium:

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Academic Journal

Vasculogenic mimicry, a negative indicator for progression free survival of lung adenocarcinoma irrespective of first line treatment and epithelial growth factor receptor mutation status.

  • Authors : He X; Oncology Department, the Second People's Hospital of Taizhou affiliated to Medical College of Yangzhou University, No. 27, Jiangyan District, Taizhou, 225500, China.; You J

Subjects: Mutation*; Adenocarcinoma of Lung/Adenocarcinoma of Lung/Adenocarcinoma of Lung/*drug therapy ; ErbB Receptors/ErbB Receptors/ErbB Receptors/*genetics

  • Source: BMC cancer [BMC Cancer] 2021 Feb 06; Vol. 21 (1), pp. 132. Date of Electronic Publication: 2021 Feb 06.Publisher: BioMed Central Country of Publication: England NLM ID: 100967800 Publication Model: Electronic Cited Medium:

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Academic Journal

DGAT1 mutations leading to delayed chronic diarrhoea: a case report.

  • Authors : Xu L; Present Address: Department of Gastroenterology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, No.3333, Binsheng Road, Hangzhou, Zhejiang Province, PR China.; Gu W

Subjects: Mutation*; Diacylglycerol O-Acyltransferase/Diacylglycerol O-Acyltransferase/Diacylglycerol O-Acyltransferase/*genetics ; Diarrhea/Diarrhea/Diarrhea/*genetics

  • Source: BMC medical genetics [BMC Med Genet] 2020 Dec 01; Vol. 21 (1), pp. 239. Date of Electronic Publication: 2020 Dec 01.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium:

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Academic Journal

A mutation that blocks integrin α 4 β 7 activation prevents adaptive immune-mediated colitis without increasing susceptibility to innate colitis.

  • Authors : Zhang H; State Key Laboratory of Cell Biology, Shanghai Institute of Biochemistry and Cell Biology, Center for Excellence in Molecular Cell Science, Chinese Academy of Sciences; University of Chinese Academy of Sciences, 320 YueYang Road, Shanghai, 200031, China.

Subjects: Adaptive Immunity* ; Mutation*; Colitis/Colitis/Colitis/*genetics

  • Source: BMC biology [BMC Biol] 2020 Jun 10; Vol. 18 (1), pp. 64. Date of Electronic Publication: 2020 Jun 10.Publisher: BioMed Central Country of Publication: England NLM ID: 101190720 Publication Model: Electronic Cited Medium:

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Academic Journal

The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.

Subjects: Multifactorial Inheritance* ; Mutation*; Klippel-Feil Syndrome/Klippel-Feil Syndrome/Klippel-Feil Syndrome/*genetics

  • Source: BMC musculoskeletal disorders [BMC Musculoskelet Disord] 2020 Apr 11; Vol. 21 (1), pp. 220. Date of Electronic Publication: 2020 Apr 11.Publisher: BioMed Central Country of Publication: England NLM ID: 100968565 Publication Model: Electronic Cited Medium:

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Academic Journal

Targeting the NAD + salvage pathway suppresses APC mutation-driven colorectal cancer growth and Wnt/β-catenin signaling via increasing Axin level.

  • Authors : Ye C; Cancer Institute (Key Laboratory of Cancer Prevention and Intervention, China National Ministry of Education), the Second Affiliated Hospital, School of Medicine, Zhejiang University, Zhejiang, 310009, Hangzhou, China.; Qi L

Subjects: Wnt Signaling Pathway*/Wnt Signaling Pathway*/Wnt Signaling Pathway*/drug effects; Axin Protein/Axin Protein/Axin Protein/*metabolism ; Colorectal Neoplasms/Colorectal Neoplasms/Colorectal Neoplasms/*genetics

  • Source: Cell communication and signaling : CCS [Cell Commun Signal] 2020 Jan 31; Vol. 18 (1), pp. 16. Date of Electronic Publication: 2020 Jan 31.Publisher: BioMed Central Country of Publication: England NLM ID: 101170464 Publication Model: Electronic Cited Medium:

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Academic Journal

Genotyping, generation and proteomic profiling of the first human autosomal dominant osteopetrosis type II-specific induced pluripotent stem cells.

  • Authors : Ou M; Clinical Medical Research Center of The Second Clinical Medical College, Jinan University, Shenzhen People's Hospital, No.1017, Dongmen North Road, Luohu District, Shenzhen, 518020, China.; Guangxi Key Laboratory of Metabolic Disease Research, Central Laboratory of Guilin No. 181 Hospital, No. 1, Xinqiaoyuan Road, Guilin, 541002, China.

Subjects: Mutation*; Biomarkers/Biomarkers/Biomarkers/*analysis ; Chloride Channels/Chloride Channels/Chloride Channels/*genetics

  • Source: Stem cell research & therapy [Stem Cell Res Ther] 2019 Aug 14; Vol. 10 (1), pp. 251. Date of Electronic Publication: 2019 Aug 14.Publisher: BioMed Central Country of Publication: England NLM ID: 101527581 Publication Model: Electronic Cited Medium:

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Academic Journal

High prevalence of Pfdhfr-Pfdhps quadruple mutations associated with sulfadoxine-pyrimethamine resistance in Plasmodium falciparum isolates from Bioko Island, Equatorial Guinea.

  • Authors : Jiang T; Department of Human Parasitology, School of Basic Medical Sciences, Department of Infectious Diseases, Renmin Hospital, Hubei University of Medicine, Shiyan, 442000, People's Republic of China.; Chen J

Subjects: Drug Resistance* ; Mutation*; Antimalarials/Antimalarials/Antimalarials/*pharmacology

  • Source: Malaria journal [Malar J] 2019 Mar 26; Vol. 18 (1), pp. 101. Date of Electronic Publication: 2019 Mar 26.Publisher: BioMed Central Country of Publication: England NLM ID: 101139802 Publication Model: Electronic Cited Medium:

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  • 1-10 of  21 results for ""Chen J""