المؤلفون: Hu X; Department of Nephrology, Xiangya Hospital, Central South University, Changsha, China., Lin W; Department of Pathology, Xiangya Hospital, Central South University, Changsha, China., Luo Z; Department of Nephrology, Xiangya Hospital, Central South University, Changsha, China., Zhong Y; Department of Nephrology, Xiangya Hospital, Central South University, Changsha, China., Xiao X; Department of Nephrology, Xiangya Hospital, Central South University, Changsha, China., Tang R; Department of Nephrology, Xiangya Hospital, Central South University, Changsha, China.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Sep; Vol. 12 (9), pp. e70006.

نوع المنشور: Journal Article; Case Reports; Review

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: PAX2 Transcription Factor*/genetics , Glomerulosclerosis, Focal Segmental*/genetics , Glomerulosclerosis, Focal Segmental*/pathology , Frameshift Mutation*, Humans ; Adult ; Male ; Female ; Pedigree ; Heterozygote

المؤلفون: Chen Z; Department of Nephrology, Dongzhimen Hospital, Beijing University of Chinese Medicine, Beijing, China., Li X; Department of Nephrology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Li C; Department of Nephrology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Cai J; Department of Nephrology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Li H; Department of Nephrology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. Electronic address: lihang9@hotmail.com.

المصدر: Kidney international [Kidney Int] 2024 Sep; Vol. 106 (3), pp. 540.

نوع المنشور: Letter

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE

مواضيع طبية MeSH: Glomerulonephritis, IGA*/pathology , Glomerulonephritis, IGA*/classification , Glomerulosclerosis, Focal Segmental*/pathology , Glomerulosclerosis, Focal Segmental*/classification , Glomerulosclerosis, Focal Segmental*/diagnosis, Humans ; Kidney Glomerulus/pathology ; Biopsy

المؤلفون: Sun L; Department of Pediatrics, Peking University First Hospital, Beijing, People's Republic of China., Ren Y; Department of Electron Microscopy, Peking University First Hospital, Beijing, People's Republic of China., Su B; Department of Pediatrics, Peking University First Hospital, Beijing, People's Republic of China., Wang S; Department of Electron Microscopy, Peking University First Hospital, Beijing, People's Republic of China., Zhong X; Department of Pediatrics, Peking University First Hospital, Beijing, People's Republic of China., Jiang Y; Department of Pediatrics, Peking University First Hospital, Beijing, People's Republic of China., Wang F; Department of Pediatrics, Peking University First Hospital, Beijing, People's Republic of China.

المصدر: Nephrology (Carlton, Vic.) [Nephrology (Carlton)] 2024 Sep; Vol. 29 (9), pp. 612-616. Date of Electronic Publication: 2024 Jun 04.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Blackwell Science Country of Publication: Australia NLM ID: 9615568 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-1797 (Electronic) Linking ISSN: 13205358 NLM ISO Abbreviation: Nephrology (Carlton) Subsets: MEDLINE

مواضيع طبية MeSH: Nephrotic Syndrome*/genetics , Glomerulosclerosis, Focal Segmental*/genetics , Glomerulosclerosis, Focal Segmental*/pathology , Glomerular Basement Membrane*/ultrastructure , Glomerular Basement Membrane*/pathology , Ubiquinone*/analogs & derivatives , Ubiquinone*/deficiency, Humans ; Male ; Phenotype ; Genetic Predisposition to Disease ; Ataxia/genetics ; Exome Sequencing ; Muscle Weakness/genetics ; Biopsy ; Mutation ; Mitochondrial Diseases/genetics ; Mitochondrial Diseases/pathology ; Alkyl and Aryl Transferases

SCR Disease Name: Coenzyme Q10 Deficiency

المؤلفون: Watanabe K; Department of Neurology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-Ku, Hamamatsu, 431-3192, Japan.; Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-Ku, Hamamatsu, 431-3192, Japan., Bunai T; Department of Neurology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-Ku, Hamamatsu, 431-3192, Japan., Sakamoto M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-Ku, Yokohama, 236-0004, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, 3-9 Fukuura, Kanazawa-Ku, Yokohama, 236-0004, Japan., Ishigaki S; Department of Nephrology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-Ku, Hamamatsu, 431-3192, Japan., Iwakura T; Department of Nephrology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-Ku, Hamamatsu, 431-3192, Japan., Ohashi N; Department of Nephrology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-Ku, Hamamatsu, 431-3192, Japan., Wakatsuki R; Department of Neurology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-Ku, Hamamatsu, 431-3192, Japan., Takenouchi A; Department of Neurology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-Ku, Hamamatsu, 431-3192, Japan., Iwaizumi M; Department of Laboratory Medicine, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-Ku, Hamamatsu, Shizuoka, 431-3125, Japan., Hotta Y; Department of Ophthalmology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-Ku, Hamamatsu, Shizuoka, 431-3125, Japan., Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-Ku, Yokohama, 236-0004, Japan., Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-Ku, Yokohama, 236-0004, Japan., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-Ku, Yokohama, 236-0004, Japan.; Department of Clinical Genetics, Yokohama City University Hospital, 3-9 Fukuura, Kanazawa-Ku, Yokohama, 236-0004, Japan., Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-Ku, Hamamatsu, 431-3192, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-Ku, Yokohama, 236-0004, Japan. naomat@yokohama-cu.ac.jp., Nakamura T; Department of Neurology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-Ku, Hamamatsu, 431-3192, Japan. tomohiko@hama-med.ac.jp.

المصدر: Journal of neurology [J Neurol] 2024 Sep; Vol. 271 (9), pp. 6227-6237. Date of Electronic Publication: 2024 Jul 30.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Glomerulosclerosis, Focal Segmental*/genetics , Glomerulosclerosis, Focal Segmental*/pathology , Intranuclear Inclusion Bodies*/pathology , Intranuclear Inclusion Bodies*/genetics , Neurodegenerative Diseases*/genetics , Neurodegenerative Diseases*/diagnostic imaging , Neurodegenerative Diseases*/pathology , Pedigree*, Humans ; Male ; Female ; Adult ; Receptor, Notch2/genetics ; Middle Aged

SCR Disease Name: Neuronal intranuclear inclusion disease

المؤلفون: Klawitter M; Department of Anatomy and Cell Biology, University Medicine Greifswald, Greifswald, Germany., Mattias F; Department of Anatomy and Cell Biology, University Medicine Greifswald, Greifswald, Germany., Kliewe F; Department of Anatomy and Cell Biology, University Medicine Greifswald, Greifswald, Germany., Hammer E; Interfaculty Institute for Genetics and Functional Genomics, University Medicine Greifswald, Greifswald, Germany., Völker U; Interfaculty Institute for Genetics and Functional Genomics, University Medicine Greifswald, Greifswald, Germany., Simm S; Institute of Bioinformatics, University Medicine Greifswald, Greifswald, Germany., Siegerist F; Department of Anatomy and Cell Biology, University Medicine Greifswald, Greifswald, Germany., Daniel S; Department of Anatomy and Cell Biology, University Medicine Greifswald, Greifswald, Germany., Schindler M; Department of Anatomy and Cell Biology, University Medicine Greifswald, Greifswald, Germany., Endlich N; Department of Anatomy and Cell Biology, University Medicine Greifswald, Greifswald, Germany.

المصدر: American journal of physiology. Renal physiology [Am J Physiol Renal Physiol] 2024 Sep 01; Vol. 327 (3), pp. F463-F475. Date of Electronic Publication: 2024 Jul 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Physiological Society Country of Publication: United States NLM ID: 100901990 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-1466 (Electronic) Linking ISSN: 15221466 NLM ISO Abbreviation: Am J Physiol Renal Physiol Subsets: MEDLINE

مواضيع طبية MeSH: Zebrafish* , Glomerulosclerosis, Focal Segmental*/pathology , Glomerulosclerosis, Focal Segmental*/metabolism , Glomerulosclerosis, Focal Segmental*/chemically induced , Glomerulosclerosis, Focal Segmental*/genetics , Larva*/drug effects , Podocytes*/drug effects , Podocytes*/metabolism , Podocytes*/pathology, Animals ; Disease Models, Animal ; Proteomics ; Prodrugs/pharmacology ; Nitroreductases/metabolism ; Nitroreductases/genetics ; Zebrafish Proteins/metabolism ; Zebrafish Proteins/genetics

المؤلفون: Hou S; Department of Organ Transplantation, Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou, 550000, China., Yang B; Department of Organ Transplantation, Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou, 550000, China., Chen Q; Department of Organ Transplantation, Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou, 550000, China., Xu Y; Department of Organ Transplantation, Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou, 550000, China. 793215044@qq.com., Li H; Hepatological surgery department, Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou, 550000, China. lihaiyang@gmc.edu.cn.

المصدر: BMC nephrology [BMC Nephrol] 2024 Aug 12; Vol. 25 (1), pp. 258. Date of Electronic Publication: 2024 Aug 12.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967793 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2369 (Electronic) Linking ISSN: 14712369 NLM ISO Abbreviation: BMC Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Glomerulosclerosis, Focal Segmental*/diagnosis , Glomerulosclerosis, Focal Segmental*/blood , Recurrence* , Biomarkers*/blood, Humans ; Kidney Transplantation ; Early Diagnosis

المؤلفون: Fan Y; National Clinical Research Center of Kidney Diseases, Jinling Hospital, Nanjing Medical University, Nanjing, China; the Affiliated Wuxi People's Hospital of Nanjing Medical University, Wuxi People's Hospital, Wuxi Medical Center, Nanjing Medical University, Wuxi, China., Dong S; National Clinical Research Center for Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China., Xia Y; National Clinical Research Center for Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China., Yang X; National Clinical Research Center for Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China., Lei Q; National Clinical Research Center for Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China; Shenzhen Hospital, Southern Medical University, Shenzhen, China., Xu F; National Clinical Research Center for Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China., Liang D; National Clinical Research Center for Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China., Liang S; National Clinical Research Center for Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China., Zhang M; National Clinical Research Center for Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China., Yang F; National Clinical Research Center for Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China., Jing Y; National Clinical Research Center for Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China., Li L; National Clinical Research Center for Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China., Zhu X; National Clinical Research Center for Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China., Bao H; National Clinical Research Center for Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China., Chen Z; National Clinical Research Center for Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China., Zeng C; National Clinical Research Center of Kidney Diseases, Jinling Hospital, Nanjing Medical University, Nanjing, China; National Clinical Research Center for Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China. Electronic address: zengcaihong@nju.edu.cn.

المصدر: The Journal of biological chemistry [J Biol Chem] 2024 Aug; Vol. 300 (8), pp. 107516. Date of Electronic Publication: 2024 Jul 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: Glomerulosclerosis, Focal Segmental*/metabolism , Glomerulosclerosis, Focal Segmental*/pathology , Glomerulosclerosis, Focal Segmental*/genetics , Thrombospondin 1*/metabolism , Thrombospondin 1*/genetics , Integrin beta3*/metabolism , Integrin beta3*/genetics, Animals ; Humans ; Mice ; Male ; Mice, Knockout ; Kidney Tubules/metabolism ; Kidney Tubules/pathology ; Female ; Adult ; Signal Transduction ; Cell Line ; Doxorubicin/pharmacology ; Hepatitis A Virus Cellular Receptor 1/metabolism ; Hepatitis A Virus Cellular Receptor 1/genetics

المؤلفون: Wannous H; Faculty of Medicine, Damascus University, Damascus, Syria. hala.wannous@damascusuniversity.edu.sy.; Department of Pediatric Nephrology, Hemodialysis, and Kidney Transplantation, Children's University Hospital, Damascus University, Damascus, Syria. hala.wannous@damascusuniversity.edu.sy.

المصدر: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Aug; Vol. 39 (8), pp. 2413-2422. Date of Electronic Publication: 2024 Apr 08.

نوع المنشور: Journal Article; Observational Study

بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Nephrotic Syndrome*/drug therapy , Nephrotic Syndrome*/pathology , Nephrotic Syndrome*/congenital , Immunosuppressive Agents*/therapeutic use , Glomerulosclerosis, Focal Segmental*/drug therapy , Glomerulosclerosis, Focal Segmental*/pathology, Humans ; Male ; Child ; Female ; Child, Preschool ; Retrospective Studies ; Syria/epidemiology ; Adolescent ; Infant ; Treatment Outcome ; Calcineurin Inhibitors/therapeutic use ; Biopsy ; Nephrosis, Lipoid/pathology ; Nephrosis, Lipoid/drug therapy ; Nephrosis, Lipoid/diagnosis ; Remission Induction ; Cyclosporine/therapeutic use ; Kidney/pathology ; Kidney/drug effects ; Rituximab/therapeutic use

SCR Disease Name: Nephrotic syndrome, idiopathic, steroid-resistant

المؤلفون: Shoji J; Division of Transplant Nephrology, University of California San Francisco, San Francisco, CA., Goggins WC; Division of Transplant Surgery, Department of Surgery, Indiana University School of Medicine, Indianapolis, IN., Wellen JR; Division of Transplantation, Department of Surgery, Washington University in St Louis, St Louis, MO., Cunningham PN; Section of Nephrology, Department of Medicine, University of Chicago, Chicago, IL., Johnston O; Division of Nephrology, Department of Medicine, University of British Columbia, Vancouver, BC, Canada., Chang SS; Division of Nephrology, Department of Medicine, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Erie County Medical Center, Buffalo, NY., Solez K; Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, AB, Canada., Santos V; Astellas Pharma Global Development Inc, Northbrook, IL., Larson TJ; Astellas Pharma Global Development Inc, Northbrook, IL., Takeuchi M; Astellas Pharma Global Development Inc, Northbrook, IL., Wang X; Astellas Pharma Global Development Inc, Northbrook, IL.

المصدر: Transplantation [Transplantation] 2024 Aug 01; Vol. 108 (8), pp. 1782-1792. Date of Electronic Publication: 2024 Jul 20.

نوع المنشور: Journal Article; Multicenter Study; Randomized Controlled Trial; Clinical Trial, Phase II

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0132144 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1534-6080 (Electronic) Linking ISSN: 00411337 NLM ISO Abbreviation: Transplantation Subsets: MEDLINE

مواضيع طبية MeSH: Kidney Transplantation*/adverse effects , Glomerulosclerosis, Focal Segmental*/drug therapy , Glomerulosclerosis, Focal Segmental*/immunology , Immunosuppressive Agents*/therapeutic use , Immunosuppressive Agents*/adverse effects , Antibodies, Monoclonal, Humanized*/therapeutic use , Antibodies, Monoclonal, Humanized*/adverse effects , Recurrence*, Humans ; Male ; Female ; Middle Aged ; Adult ; Treatment Outcome ; Tacrolimus/therapeutic use ; Tacrolimus/adverse effects ; Graft Survival/drug effects ; Drug Therapy, Combination ; Adrenal Cortex Hormones/therapeutic use ; Secondary Prevention/methods ; Kidney Failure, Chronic/surgery ; Kidney Failure, Chronic/prevention & control ; Kidney Failure, Chronic/etiology

المؤلفون: Ban H; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan.; Department of Pediatrics, Japanese Red Cross Kumamoto Hospital, Kumamoto, Japan., Miura K; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan., Ando T; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan., Shirai Y; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan., Kaneko N; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan., Ishizuka K; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan., Hotta K; Department of Urology, Hokkaido University Hospital, Sapporo, Japan., Hattori M; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan.

المصدر: Pediatric transplantation [Pediatr Transplant] 2024 Aug; Vol. 28 (5), pp. e14809.

نوع المنشور: Journal Article; Multicenter Study

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 9802574 Publication Model: Print Cited Medium: Internet ISSN: 1399-3046 (Electronic) Linking ISSN: 13973142 NLM ISO Abbreviation: Pediatr Transplant Subsets: MEDLINE

مواضيع طبية MeSH: Kidney Transplantation* , Glomerulosclerosis, Focal Segmental*/therapy , Glomerulosclerosis, Focal Segmental*/etiology , Glomerulosclerosis, Focal Segmental*/surgery , Recurrence* , Graft Survival*, Humans ; Retrospective Studies ; Male ; Female ; Child ; Adolescent ; Child, Preschool ; Japan ; Plasma Exchange ; Treatment Outcome ; Proteinuria/etiology ; Postoperative Complications/etiology