Autonomous and non-cell autonomous role of cilia in structural birth defects in mice.

Autor: Francis RJB; Department of Developmental Biology, University of Pittsburgh, Rangos Research Center, Pittsburgh, Pennsylvania, United States of America.; Discipline of Biomedical Sciences and Molecular Biology; College of Public Health, Medical and Veterinary Science, James Cook University, Townsville, Australia., San Agustin JT; Program in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts, United States of America., Szabo Rogers HL; Department of Developmental Biology, University of Pittsburgh, Rangos Research Center, Pittsburgh, Pennsylvania, United States of America.; Center for Craniofacial Regeneration, Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America., Cui C; Department of Developmental Biology, University of Pittsburgh, Rangos Research Center, Pittsburgh, Pennsylvania, United States of America., Jonassen JA; Department of Microbiology and Physiological Systems, University of Massachusetts Chan Medical School, Worcester, Massachusetts, United States of America., Eguether T; Program in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts, United States of America., Follit JA; Program in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts, United States of America., Lo CW; Department of Developmental Biology, University of Pittsburgh, Rangos Research Center, Pittsburgh, Pennsylvania, United States of America., Pazour GJ; Program in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts, United States of America.

Publikováno v: PLoS biology [PLoS Biol] 2023 Dec 11; Vol. 21 (12), pp. e3002425. Date of Electronic Publication: 2023 Dec 11 (Print Publication: 2023).

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.

Autor: Bakey Z; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Freiburg, Germany.; Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands., Cabrera OA; Program in Molecular Medicine, University of Massachusetts Chan Medical School, Biotech II, Worcester, Massachusetts, United States of America., Hoefele J; Institute for Human Genetics, Technical University Munich (TUM), School of Medicine, Munich, Germany., Antony D; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Freiburg, Germany.; Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands., Wu K; Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands., Stuck MW; Program in Molecular Medicine, University of Massachusetts Chan Medical School, Biotech II, Worcester, Massachusetts, United States of America., Micha D; Department of Human Genetics, Amsterdam Movement Sciences, Amsterdam UMC, Amsterdam, The Netherlands., Eguether T; Program in Molecular Medicine, University of Massachusetts Chan Medical School, Biotech II, Worcester, Massachusetts, United States of America., Smith AO; Program in Molecular Medicine, University of Massachusetts Chan Medical School, Biotech II, Worcester, Massachusetts, United States of America., van der Wel NN; Electron microscopy Center Amsterdam, Department of Medical Biology, VUMC, Amsterdam, The Netherlands., Wagner M; Institute for Human Genetics, Technical University Munich (TUM), School of Medicine, Munich, Germany., Strittmatter L; Electron Microscopy Core, University of Massachusetts Chan Medical School, Worcester, Massachusetts, United States of America., Beales PL; Genetics and Genomic Medicine Programme, University College London, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Jonassen JA; Department of Microbiology and Physiological Systems, University of Massachusetts Chan Medical School, Worcester, Massachusetts, United States of America., Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, United States of America., Cadieux-Dion M; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, United States of America., Boyes L; West Midlands Genomic Medicine Hub, Birmingham Women's Hospital, Birmingham, United Kingdom., Sharif S; West Midlands Genomic Medicine Hub, Birmingham Women's Hospital, Birmingham, United Kingdom., Tüysüz B; Department of Pediatrics, Division of Pediatric Genetics, Cerrahpasa Medical Faculty, University-Cerrahpasa, Istanbul, Turkey., Dunstheimer D; Center for Pediatrics and Adolescent Medicine, University Hospital Augsburg, Augsburg, Germany., Niessen HWM; Department of Pathology, Amsterdam University Medical Center (AUMC), Amsterdam, The Netherlands., Devine W; Department of Developmental Biology, University of Pittsburgh, 8111 Rangos Research Center, Pittsburgh, Pennsylvania, United States of America., Lo CW; Department of Developmental Biology, University of Pittsburgh, 8111 Rangos Research Center, Pittsburgh, Pennsylvania, United States of America., Mitchison HM; Genetics and Genomic Medicine Programme, University College London, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Schmidts M; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Freiburg, Germany.; Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands.; CIBSS-Center for Integrative Biological Signaling Studies, University of Freiburg, Freiburg, Germany., Pazour GJ; Program in Molecular Medicine, University of Massachusetts Chan Medical School, Biotech II, Worcester, Massachusetts, United States of America.

Publikováno v: PLoS genetics [PLoS Genet] 2023 Jun 14; Vol. 19 (6), pp. e1010796. Date of Electronic Publication: 2023 Jun 14 (Print Publication: 2023).

c-JUN n-Terminal Kinase (JNK) Signaling in Autosomal Dominant Polycystic Kidney Disease.

Autor: Smith AO; Program in Molecular Medicine, University of Massachusetts Medical School, Biotech II, Suite 213, 373 Plantation Street, Worcester, MA, USA 01605., Jonassen JA; Department of Microbiology and Physiological Systems, University of Massachusetts Medical School, 55 Lake Avenue North, Worcester, MA, USA 01655., Preval KM; Program in Molecular Medicine, University of Massachusetts Medical School, Biotech II, Suite 213, 373 Plantation Street, Worcester, MA, USA 01605., Davis RJ; Program in Molecular Medicine, University of Massachusetts Medical School, Biotech II, Suite 213, 373 Plantation Street, Worcester, MA, USA 01605., Pazour GJ; Program in Molecular Medicine, University of Massachusetts Medical School, Biotech II, Suite 213, 373 Plantation Street, Worcester, MA, USA 01605.

Publikováno v: Journal of cellular signaling [J Cell Signal] 2022; Vol. 3 (1), pp. 62-78.

Hydroxyproline increases inflammation and Uropathogenic E. coli (UPEC) infection in female rats.

Autor: Kumar, Parveen¹ (AUTHOR), Yang, Zhengqin² (AUTHOR), Fatima, Huma³ (AUTHOR), Mitchell, Tanecia^1,4 (AUTHOR) taneciamitchell@uabmc.edu

Publikováno v: Scientific Reports. 9/30/2024, Vol. 14 Issue 1, p1-14. 14p.

Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease–spectrum phenotype.

Autor: Dordoni, Chiara¹ (AUTHOR), Zeni, Letizia² (AUTHOR), Toso, Diego² (AUTHOR), Mazza, Cinzia³ (AUTHOR), Mescia, Federica² (AUTHOR), Cortinovis, Roberta² (AUTHOR), Econimo, Laura² (AUTHOR), Savoldi, Gianfranco³ (AUTHOR), Alberici, Federico² (AUTHOR), Scolari, Francesco² (AUTHOR), Izzi, Claudia^1,4 (AUTHOR) claudia.izzi@unibs.it

Publikováno v: Clinical Kidney Journal. Feb2024, Vol. 17 Issue 2, p1-8. 8p.