Genetic Findings in Short Turkish Children Born to Consanguineous Parents.

Autor: Joustra SD; Department of Paediatrics, Division of Pediatric Endocrinology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands., Isik E; Department of Paediatrics, Ankara Bilkent City Hospital, Ankara, Turkey., Wit JM; Department of Paediatrics, Division of Pediatric Endocrinology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands., Catli G; Department of Paediatric Endocrinology, Izmir Katip Celebi University Faculty of Medicine, Izmir, Turkey.; Department of Paediatric Endocrinology, Istinye University Faculty of Medicine, Istanbul, Turkey., Anik A; Department of Paediatric Endocrinology, Dokuz Eylul University, Izmir, Turkey., Haliloglu B; Department of Paediatric Endocrinology and Diabetology, Marmara University School of Medicine, Istanbul, Turkey., Kandemir N; Department of Paediatric Endocrinology, Hacettepe University, Faculty of Medicine, Ankara, Turkey., Ozsu E; Department of Paediatric Endocrinology and Diabetes, University of Ankara, Ankara, Turkey., Hendriks YMC; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., de Bruin C; Department of Paediatrics, Division of Pediatric Endocrinology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands., Kant SG; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Campos-Barros A; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Rare Diseases Biomedical Research Network (CIBERER; U 753), ISCIII, Madrid, Spain., Challis RC; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Parry D; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Harley ME; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Jackson A; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Losekoot M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., van Duyvenvoorde HA; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.

Publikováno v: Hormone research in paediatrics [Horm Res Paediatr] 2024 Jun 05, pp. 1-11. Date of Electronic Publication: 2024 Jun 05.

Recent advances in organelle-specific autophagy in melanoma.

Autor: Qi, Jinxin^1,2 (AUTHOR), Zhang, Qian^1,2,3 (AUTHOR), Wang, Lian¹ (AUTHOR), Wen, Xiang¹ (AUTHOR), He, Gu^1,2 (AUTHOR) hegu@scu.edu.cn, Jiang, Xian^1,2 (AUTHOR) jiangxian@scu.edu.cn

Publikováno v: Oncologie (De Gruyter). Nov2024, Vol. 26 Issue 6, p871-883. 13p.

Time-resolved interactome profiling deconvolutes secretory protein quality control dynamics.

Autor: Wright, Madison T¹ (AUTHOR), Timalsina, Bibek¹ (AUTHOR), Garcia Lopez, Valeria² (AUTHOR), Hermanson, Jake N² (AUTHOR), Garcia, Sarah¹ (AUTHOR), Plate, Lars^1,2,3 (AUTHOR) lars.plate@vanderbilt.edu

Publikováno v: Molecular Systems Biology. Sep2024, Vol. 20 Issue 9, p1049-1075. 27p.

Selective autophagy in cancer: mechanisms, therapeutic implications, and future perspectives.

Autor: Liu, Jiaxi¹ (AUTHOR), Wu, Yongya¹ (AUTHOR), Meng, Sha¹ (AUTHOR), Xu, Ping² (AUTHOR), Li, Shutong¹ (AUTHOR), Li, Yong¹ (AUTHOR), Hu, Xiuying¹ (AUTHOR) huxiuying@scu.edu.cn, Ouyang, Liang¹ (AUTHOR) ouyangliang@scu.edu.cn, Wang, Guan¹ (AUTHOR) guan8079@163.com

Publikováno v: Molecular Cancer. 1/24/2024, Vol. 23 Issue 1, p1-30. 30p.

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.

Autor: Harley ME; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK., Murina O; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK., Leitch A; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK., Higgs MR; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, B15 2TT, UK., Bicknell LS; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK., Yigit G; Institute of Human Genetics, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany., Blackford AN; The Gurdon Institute, University of Cambridge, Cambridge, CB2 1QN, UK., Zlatanou A; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, B15 2TT, UK., Mackenzie KJ; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK., Reddy K; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK., Halachev M; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK., McGlasson S; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK., Reijns MAM; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK., Fluteau A; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK., Martin CA; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK., Sabbioneda S; Istituto di Genetica Molecolare, CNR, 27100 Pavia, Italy., Elcioglu NH; Department of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey., Altmüller J; Institute of Human Genetics, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany., Thiele H; Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany., Greenhalgh L; Cheshire and Merseyside Clinical Genetics Service, Liverpool Women's Hospital, Liverpool, L12 2AP, UK., Chessa L; Department of Clinical and Molecular Medicine, University Sapienza, A.O.S. Andrea, I-00189 Roma, Italy., Maghnie M; Department of Pediatrics, IRCCS, Giannina Gaslini, University of Genova, 16147 Genova, Italy., Salim M; Department of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey., Bober MB; Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware 19803, USA., Nürnberg P; Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany.; Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany., Jackson SP; The Gurdon Institute, University of Cambridge, Cambridge, CB2 1QN, UK.; Department of Biochemistry, University of Cambridge, Cambridge, CB2 1QN, UK.; Wellcome Trust Sanger Institute, Cambridge, CB10 1SA, UK., Hurles ME; Wellcome Trust Sanger Institute, Cambridge, CB10 1SA, UK., Wollnik B; Institute of Human Genetics, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany.; Institute of Human Genetics, University Medical Centre Göttingen, 37073 Göttingen, Germany., Stewart GS; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, B15 2TT, UK., Jackson AP; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.

Publikováno v: Nature genetics [Nat Genet] 2016 Jan; Vol. 48 (1), pp. 36-43. Date of Electronic Publication: 2015 Nov 23.