Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Academic Journal

A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family.

  • Authors : Chen S; Department of Clinical Laboratory, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Linhai, China.; Key Laboratory of System Medicine and Precision Diagnosis and Treatment of Taizhou, Linhai, China.

Subjects: Nephritis, Hereditary*/Nephritis, Hereditary*/Nephritis, Hereditary*/genetics ; Nephritis, Hereditary*/Nephritis, Hereditary*/Nephritis, Hereditary*/pathology ; Collagen Type IV*/Collagen Type IV*/Collagen Type IV*/genetics

  • Source: BMC medical genomics [BMC Med Genomics] 2024 Apr 26; Vol. 17 (1), pp. 108. Date of Electronic Publication: 2024 Apr 26.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

Record details

×
Academic Journal

Effect of S-region mutations on HBsAg in HBsAg-negative HBV-infected patients.

  • Authors : Liu H; Clinical Laboratory Center, Beijing Youan Hospital, Capital Medical University, 100069, Beijing, China.; Chen S

Subjects: Hepatitis B Surface Antigens*/Hepatitis B Surface Antigens*/Hepatitis B Surface Antigens*/genetics ; Hepatitis B Surface Antigens*/Hepatitis B Surface Antigens*/Hepatitis B Surface Antigens*/immunology ; Hepatitis B virus*/Hepatitis B virus*/Hepatitis B virus*/genetics

  • Source: Virology journal [Virol J] 2024 Apr 23; Vol. 21 (1), pp. 92. Date of Electronic Publication: 2024 Apr 23.Publisher: BioMed Central Country of Publication: England NLM ID: 101231645 Publication Model: Electronic Cited Medium: Internet ISSN: 1743-422X

Record details

×
Academic Journal

High-throughput visualization mutation screening technology to enhance the specificity of CadR based whole-cell cadmium biosensor.

  • Authors : Guo M; Key Laboratory of Geriatric Nutrition and Health (Beijing Technology and Business University), Ministry of Education, Beijing, 100048, China. Electronic address: .; Chen S

Subjects: Biosensing Techniques*/Biosensing Techniques*/Biosensing Techniques*/methods ; Cadmium*/Cadmium*/Cadmium*/chemistry ; Mutation*

  • Source: Biosensors & bioelectronics [Biosens Bioelectron] 2024 Jul 15; Vol. 256, pp. 116266. Date of Electronic Publication: 2024 Apr 02.Publisher: Elsevier Advanced Technology Country of Publication: England NLM ID: 9001289 Publication Model: Print-Electronic Cited Medium: Internet

Record details

×
Academic Journal

A genomic mutational constraint map using variation in 76,156 human genomes.

Subjects: Genome, Human*/Genome, Human*/Genome, Human*/genetics ; Genomics* ; Models, Genetic*

  • Source: Nature [Nature] 2024 Jan; Vol. 625 (7993), pp. 92-100. Date of Electronic Publication: 2023 Dec 06.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

×
Academic Journal

Analysis of risk factors and gene mutation characteristics of different metastatic sites of lung cancer.

  • Authors : Wang B; Department of Oncology, Daping Hospital, Army Medical University, Chongqing, China.; Department of Cell Biology and Genetics, Chongqing Medical University, Chongqing, China.

Subjects: Mutation*; Lung Neoplasms/Lung Neoplasms/Lung Neoplasms/*genetics ; Lung Neoplasms/Lung Neoplasms/Lung Neoplasms/*pathology

  • Source: Cancer medicine [Cancer Med] 2022 Jan; Vol. 11 (1), pp. 268-280. Date of Electronic Publication: 2021 Nov 19.Publisher: John Wiley & Sons Ltd Country of Publication: United States NLM ID: 101595310 Publication Model: Print-Electronic Cited Medium: Internet

Record details

×
Academic Journal

Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome.

  • Authors : Roston TM; Division of Cardiology, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.; Centre for Cardiovascular Innovation, Division of Cardiology, Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.

Subjects: Mutation*; Death, Sudden, Cardiac/Death, Sudden, Cardiac/Death, Sudden, Cardiac/*prevention & control ; Ryanodine Receptor Calcium Release Channel/Ryanodine Receptor Calcium Release Channel/Ryanodine Receptor Calcium Release Channel/*genetics Polymorphic catecholergic ventricular tachycardia

  • Source: JAMA cardiology [JAMA Cardiol] 2022 Jan 01; Vol. 7 (1), pp. 84-92.Publisher: American Medical Association Country of Publication: United States NLM ID: 101676033 Publication Model: Print Cited Medium: Internet ISSN:

Record details

×
Report

Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy.

  • Authors : Li B; Department of Physiology and Pathophysiology, State Key Laboratory of Medical Neurobiology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China.; Shanghai Institute of Precision Medicine, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.

Subjects: Cardiomyopathy, Dilated*/Cardiomyopathy, Dilated*/Cardiomyopathy, Dilated*/genetics ; Cardiomyopathy, Dilated*/Cardiomyopathy, Dilated*/Cardiomyopathy, Dilated*/metabolism ; Models, Cardiovascular* Familial dilated cardiomyopathy

  • Source: Protein & cell [Protein Cell] 2022 Jan; Vol. 13 (1), pp. 65-71. Date of Electronic Publication: 2021 Apr 22.Publisher: Oxford University Press Country of Publication: Germany NLM ID: 101532368 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

×
Report

Recurrent mutations in multiple components of the SWI/SNF complex in myelodysplastic syndromes and acute myeloid leukaemia.

  • Authors : Yao H; Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Suzhou, China.; Cyrus Tang Hematology Center, Jiangsu Institute of Hematology, State Key Laboratory of Radiation Medicine and Protection, Soochow University, Suzhou, P.R. China.

Subjects: Biomarkers* ; Genetic Predisposition to Disease* ; Multigene Family*

  • Source: British journal of haematology [Br J Haematol] 2022 Jan; Vol. 196 (2), pp. 441-444. Date of Electronic Publication: 2021 Sep 18.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

×
Academic Journal

Blood tumor mutation burden can predict the clinical response to immune checkpoint inhibitors in advanced non-small cell lung cancer patients.

  • Authors : Chen X; Department of Respiratory Diseases, Thoracic Disease Diagnosis and Treatment Center, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, Zhejiang Province, China.; Fang L

Subjects: Carcinoma, Non-Small-Cell Lung/Carcinoma, Non-Small-Cell Lung/Carcinoma, Non-Small-Cell Lung/*drug therapy ; Carcinoma, Non-Small-Cell Lung/Carcinoma, Non-Small-Cell Lung/Carcinoma, Non-Small-Cell Lung/*genetics ; Immune Checkpoint Inhibitors/Immune Checkpoint Inhibitors/Immune Checkpoint Inhibitors/*therapeutic use

  • Source: Cancer immunology, immunotherapy : CII [Cancer Immunol Immunother] 2021 Dec; Vol. 70 (12), pp. 3513-3524. Date of Electronic Publication: 2021 Apr 25.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 8605732 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

×
Academic Journal

Aligning tumor mutational burden (TMB) quantification across diagnostic platforms: phase II of the Friends of Cancer Research TMB Harmonization Project.

Subjects: Mutation* ; Neoplasms*/Neoplasms*/Neoplasms*/diagnosis ; Neoplasms*/Neoplasms*/Neoplasms*/genetics

  • Source: Annals of oncology : official journal of the European Society for Medical Oncology [Ann Oncol] 2021 Dec; Vol. 32 (12), pp. 1626-1636. Date of Electronic Publication: 2021 Oct 01.Publisher: Elsevier Country of Publication: England NLM ID: 9007735 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1569-8041

Record details

×
  • 1-10 of  321 results for ""Chen S""