المؤلفون: Vanacore RM; Division of Nephrology and Hypertension, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA; Vanderbilt Center for Matrix Biology, Vanderbilt University Medical Center, Nashville, Tennessee, USA. Electronic address: roberto.vanacore@vanderbilt.edu.

المصدر: Kidney international [Kidney Int] 2024 Sep; Vol. 106 (3), pp. 359-361.

نوع المنشور: Journal Article; Comment

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: Nephritis, Hereditary*/genetics , Nephritis, Hereditary*/drug therapy , Nephritis, Hereditary*/pathology , Nephritis, Hereditary*/metabolism , Collagen Type IV*/genetics , Collagen Type IV*/metabolism , Taurochenodeoxycholic Acid*/pharmacology , Taurochenodeoxycholic Acid*/therapeutic use , Glomerular Basement Membrane*/pathology , Glomerular Basement Membrane*/drug effects , Autoantigens*/genetics , Autoantigens*/metabolism, Animals ; Mice ; Humans ; Endoplasmic Reticulum Stress/drug effects ; Apoptosis/drug effects ; Disease Models, Animal ; Podocytes/drug effects ; Podocytes/pathology ; Podocytes/metabolism ; Mutation, Missense ; Molecular Chaperones/genetics ; Molecular Chaperones/metabolism

المؤلفون: Yu S; Department of Nephrology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Institute of Nephrology, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Gu X; Department of Nephrology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Institute of Nephrology, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Department of Nephrology, Yueyang Hospital of Integrated Traditional Chinese and Western Medicine, Shanghai University of Traditional Chinese Medicine, Shanghai, China., Zheng Q; Department of Nephrology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Institute of Nephrology, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Liu Y; Department of Nephrology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Institute of Nephrology, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Suhas T; Division of Nephrology, Department of Medicine and Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, Missouri, USA., Du W; Department of Nephrology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Institute of Nephrology, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Xie L; Department of Nephrology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Institute of Nephrology, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Fang Z; Department of Nephrology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Institute of Nephrology, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Zhao Y; Department of Nephrology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Institute of Nephrology, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Yang M; Department of Nephrology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Institute of Nephrology, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Xu J; Department of Nephrology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Institute of Nephrology, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Wang Y; Department of Nephrology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Institute of Nephrology, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Lin MH; Division of Nephrology, Department of Medicine and Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, Missouri, USA., Pan X; Department of Nephrology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Institute of Nephrology, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Miner JH; Division of Nephrology, Department of Medicine and Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, Missouri, USA., Jin Y; Department of Nephrology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Institute of Nephrology, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: jinyuanmeng4027@163.com., Xie J; Department of Nephrology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Institute of Nephrology, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: nephroxie@163.com.

المصدر: Kidney international [Kidney Int] 2024 Sep; Vol. 106 (3), pp. 433-449. Date of Electronic Publication: 2024 May 21.

نوع المنشور: Journal Article

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

مواضيع طبية MeSH: Collagen Type IV*/genetics , Collagen Type IV*/metabolism , Endoplasmic Reticulum Stress*/drug effects , Mutation* , Nephritis, Hereditary*/genetics , Nephritis, Hereditary*/drug therapy , Nephritis, Hereditary*/pathology , p38 Mitogen-Activated Protein Kinases*/metabolism , Taurochenodeoxycholic Acid*/pharmacology , Taurochenodeoxycholic Acid*/therapeutic use, Animals ; Humans ; Male ; Mice ; Apoptosis/drug effects ; Autoantigens/genetics ; Autoantigens/metabolism ; Disease Models, Animal ; Kidney/pathology ; Kidney/drug effects ; Kidney/metabolism ; Mice, Inbred C57BL ; Mice, Transgenic ; Myeloid Differentiation Factor 88/genetics ; Myeloid Differentiation Factor 88/metabolism ; Signal Transduction/drug effects

المؤلفون: Zeni L; Division of Nephrology and Dialysis, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili., Mescia F; Division of Nephrology and Dialysis, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili; Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, Brescia, Italy., Toso D; Division of Nephrology and Dialysis, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili; Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, Brescia, Italy., Dordoni C; Clinical Genetics Unit, Department of Obstetrics and Gynaecology, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili., Mazza C; Medical Genetics Laboratory, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili., Savoldi G; Medical Genetics Laboratory, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili., Econimo L; Division of Nephrology and Dialysis, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili., Cortinovis R; Division of Nephrology and Dialysis, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili., Fisogni S; Section of Pathology, Department of Molecular and Translational Medicine, ASST-Spedali Civili, University of Brescia, Brescia, Italy., Alberici F; Division of Nephrology and Dialysis, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili; Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, Brescia, Italy., Scolari F; Division of Nephrology and Dialysis, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili; Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, Brescia, Italy., Izzi C; Clinical Genetics Unit, Department of Obstetrics and Gynaecology, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy. Electronic address: claudia.izzi@unibs.it.

المصدر: American journal of kidney diseases : the official journal of the National Kidney Foundation [Am J Kidney Dis] 2024 Sep; Vol. 84 (3), pp. 320-328.e1. Date of Electronic Publication: 2024 Mar 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 8110075 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-6838 (Electronic) Linking ISSN: 02726386 NLM ISO Abbreviation: Am J Kidney Dis Subsets: MEDLINE

مواضيع طبية MeSH: Nephritis, Hereditary*/genetics , Nephritis, Hereditary*/epidemiology , Nephritis, Hereditary*/complications , Phenotype*, Humans ; Male ; Female ; Retrospective Studies ; Adult ; Glomerular Filtration Rate ; Middle Aged ; Kidney Diseases, Cystic/genetics ; Kidney Diseases, Cystic/epidemiology ; Cohort Studies ; Young Adult ; Prevalence ; Glomerulonephritis, IGA/genetics ; Glomerulonephritis, IGA/epidemiology ; Clinical Relevance

المؤلفون: Thanachatchairattana P; Surgery, Mahidol University Faculty of Medicine Ramathibodi Hospital, Bangkok, Thailand jiabsi@yahoo.com., Losty P; Department of Paediatric Surgery, Institute Of Systems Molecular and Integrative Biology, University of Liverpool, Liverpool, UK.

المصدر: BMJ case reports [BMJ Case Rep] 2024 Aug 22; Vol. 17 (8). Date of Electronic Publication: 2024 Aug 22.

نوع المنشور: Case Reports; Review

بيانات الدورية: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Esophageal Neoplasms*/pathology , Esophageal Neoplasms*/diagnosis , Esophageal Neoplasms*/surgery , Leiomyomatosis*/diagnosis , Leiomyomatosis*/pathology , Leiomyomatosis*/surgery , Nephritis, Hereditary*/complications , Nephritis, Hereditary*/diagnosis, Child ; Female ; Humans ; Esophagectomy ; Tomography, X-Ray Computed

المؤلفون: Christodoulaki V; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.; First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Kosma K; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece., Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.; University Research Institute for the Study and Treatment of Genetic and Malignant Disorders in Childhood, Aghia Sophia Children's Hospital, National and Kapodistrian University of Athens, 11527 Athens, Greece., Tilemis FN; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece., Stergiou N; First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Kampouraki A; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece., Kapogiannis C; First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Karava V; First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Mitsioni A; Department of Nephrology, 'P. and A. Kyriakou' Children's Hospital, 11527 Athens, Greece., Mila M; Department of Nephrology, 'P. and A. Kyriakou' Children's Hospital, 11527 Athens, Greece., Kanaka-Gantenbein C; First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.; Division of Endocrinology, Diabetes and Metabolism, First Department of Pediatrics, Medical School, Aghia Sophia Children's Hospital, National and Kapodistrian University of Athens, 11527 Athens, Greece., Makrythanasis P; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece., Tzetis M; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece., Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.

المصدر: Genes [Genes (Basel)] 2024 Aug 02; Vol. 15 (8). Date of Electronic Publication: 2024 Aug 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Nephritis, Hereditary*/genetics , Nephritis, Hereditary*/diagnosis, Humans ; Female ; Male ; Child ; Child, Preschool ; Adolescent ; Genetic Testing/methods ; Exome Sequencing ; Collagen Type IV/genetics ; Early Diagnosis ; Infant ; Mutation ; Adult ; Kidney Failure, Chronic/genetics ; Kidney Failure, Chronic/diagnosis ; Phenotype

المؤلفون: Weinstock BA; Alport Syndrome Foundation, Scottsdale, Arizona.

المصدر: Clinical journal of the American Society of Nephrology : CJASN [Clin J Am Soc Nephrol] 2024 Aug 01; Vol. 19 (8), pp. 946-948. Date of Electronic Publication: 2024 Jun 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wolters Kluwer Health Country of Publication: United States NLM ID: 101271570 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1555-905X (Electronic) Linking ISSN: 15559041 NLM ISO Abbreviation: Clin J Am Soc Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Nephritis, Hereditary*/therapy , Nephritis, Hereditary*/diagnosis , Nephritis, Hereditary*/genetics , Nephritis, Hereditary*/complications, Humans ; Collagen Type IV/genetics ; Treatment Outcome ; Clinical Trials as Topic

المؤلفون: Gale DP; Department of Renal Medicine, University College London, London, United Kingdom.; Royal Free Hospital London, London, United Kingdom.; Great Ormond Street Hospital, London, United Kingdom., Gross O; Clinic for Nephrology and Rheumatology, University Medicine Göttingen, Göttingen, Germany., Wang F; Department of Pediatrics, Peking University First Hospital, Beijing, China., Esteban de la Rosa RJ; Hospital Universitario Virgen de las Nieves, University of Granada, IBS-Granada, Granada, Spain., Hall M; Nottingham University Hospitals, Nottingham, United Kingdom., Sayer JA; Translational and Clinical Research Institute, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom., Appel G; Columbia University Medical Center, New York, New York., Hariri A; Eloxx Pharmaceuticals, Watertown, Massachusetts., Liu S; Sanofi, Cambridge, Massachusetts., Maski M; Sanofi, Cambridge, Massachusetts., Shen Y; Sanofi, Cambridge, Massachusetts., Zhang Q; Sanofi, Cambridge, Massachusetts., Iqbal S; Sanofi, Cambridge, Massachusetts., Kowthalam MU; Sanofi, Bridgewater, New Jersey., Lin J; Sanofi, Cambridge, Massachusetts., Ding J; Department of Pediatrics, Peking University First Hospital, Beijing, China.

مؤلفون مشاركون: HERA Clinical Trial Group

المصدر: Clinical journal of the American Society of Nephrology : CJASN [Clin J Am Soc Nephrol] 2024 Aug 01; Vol. 19 (8), pp. 995-1004. Date of Electronic Publication: 2024 Jun 03.

نوع المنشور: Randomized Controlled Trial; Letter; Journal Article

بيانات الدورية: Publisher: Wolters Kluwer Health Country of Publication: United States NLM ID: 101271570 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1555-905X (Electronic) Linking ISSN: 15559041 NLM ISO Abbreviation: Clin J Am Soc Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Nephritis, Hereditary*/complications , Nephritis, Hereditary*/drug therapy , Nephritis, Hereditary*/physiopathology, Humans ; Adult ; Male ; Female ; Kidney/physiopathology ; Kidney/drug effects ; Glomerular Filtration Rate/drug effects ; Middle Aged ; Treatment Outcome

المؤلفون: Bada-Bosch T; Department of Nephrology, Hospital Universitario  12 de Octubre, Madrid, Spain., Sevillano AM; Department of Nephrology, Hospital Universitario  12 de Octubre, Madrid, Spain., Sánchez-Calvin MT; Department of Genetics, Hospital Universitario  12 de Octubre, Madrid, Spain., Palma-Milla C; Department of Genetics, Hospital Universitario  12 de Octubre, Madrid, Spain., Alba de Cáceres I; Department of Radiology, Hospital Universitario  12 de Octubre, Madrid, Spain., Díaz-Crespo F; Department of Pathology, Hospital General Universitario, Gregorio Marañón, Madrid, Spain., Trujillo H; Department of Nephrology, Hospital Universitario  12 de Octubre, Madrid, Spain., Alonso M; Department of Pathology, Hospital Universitario  12 de Octubre, Madrid, Spain., Cases-Corona C; Department of Nephrology, Hospital Fundación Alcorcón, Madrid, Spain., Shabaka A; Department of Nephrology, Hospital Universitario La Paz, Madrid, Spain., Quesada-Espinosa JF; Department of Genetics, Hospital Universitario  12 de Octubre, Madrid, Spain., Lezana-Rosales JM; Department of Genetics, Hospital Universitario  12 de Octubre, Madrid, Spain., Gutiérrez E; Department of Nephrology, Hospital Universitario  12 de Octubre, Madrid, Spain., Fernández-Juárez G; Department of Nephrology, Hospital Universitario La Paz, Madrid, Spain., Caravaca-Fontán F; Instituto de Investigación, Hospital Universitario  12 de Octubre, Madrid, Spain., Praga M; Department of Medicine, Complutense University, Madrid, Spain.; Nephrology Division, Hospital Universitario Quironsalud, Madrid, Spain.

المصدر: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association [Nephrol Dial Transplant] 2024 Jul 31; Vol. 39 (8), pp. 1288-1298.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 8706402 Publication Model: Print Cited Medium: Internet ISSN: 1460-2385 (Electronic) Linking ISSN: 09310509 NLM ISO Abbreviation: Nephrol Dial Transplant Subsets: MEDLINE

مواضيع طبية MeSH: Nephritis, Hereditary*/genetics , Nephritis, Hereditary*/complications , Phenotype* , Renal Insufficiency, Chronic*/genetics , Renal Insufficiency, Chronic*/etiology , Renal Insufficiency, Chronic*/epidemiology , Collagen Type IV*/genetics , Glomerular Filtration Rate*, Humans ; Female ; Male ; Retrospective Studies ; Adult ; Follow-Up Studies ; Middle Aged ; Autoantigens/genetics ; Prognosis ; Kidney Diseases, Cystic/genetics ; Kidney Diseases, Cystic/epidemiology ; Kidney Diseases, Cystic/complications ; Prevalence

المؤلفون: Wang D; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China., Pan M; Department of Nephrology, Peking University Shenzhen Hospital, Futian, Shenzhen, Guangdong, 518036, China., Li H; Department of Urology, Peking University Shenzhen Hospital, Futian, Shenzhen, Guangdong, China., Li M; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China., Li P; Department of Pathology, Peking University Shenzhen Hospital, Futian, Shenzhen, Guangdong, China., Xiong F; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China. xiongfu@smu.edu.cn.; Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou, Guangdong, China. xiongfu@smu.edu.cn.; Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou, China. xiongfu@smu.edu.cn., Xiao H; Department of Nephrology, Peking University Shenzhen Hospital, Futian, Shenzhen, Guangdong, 518036, China. luckyxiaohb@163.com.

المصدر: BMC medical genomics [BMC Med Genomics] 2024 Jul 08; Vol. 17 (1), pp. 181. Date of Electronic Publication: 2024 Jul 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Nephritis, Hereditary*/genetics , Nephritis, Hereditary*/pathology , Collagen Type IV*/genetics , Autoantigens*/genetics , Pedigree*, Humans ; Female ; Male ; Adult ; Mutation ; Exome Sequencing ; Middle Aged ; Mutation, Missense ; HEK293 Cells

المؤلفون: Shen X; Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China., Zheng BX; Nanjing Key Laboratory of Paediatrics, Children's Hospital of Nanjing Medical University, Nanjing 210008, China., Huang SM; Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.

المصدر: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2024 Jul 02; Vol. 62 (7), pp. 692-695.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium: Print ISSN: 0578-1310 (Print) Linking ISSN: 05781310 NLM ISO Abbreviation: Zhonghua Er Ke Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Nephritis, Hereditary*/therapy , Nephritis, Hereditary*/genetics , Genetic Therapy*/methods , Collagen Type IV*/genetics , Disease Models, Animal*, Humans ; Animals ; Mutation ; Genetic Vectors ; Gene Transfer Techniques ; Mice ; Basement Membrane/metabolism