Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.

Autor: Mishra-Gorur K; Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510., Barak T; Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510., Kaulen LD; Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510., Henegariu O; Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510., Jin SC; Department of Genetics, Yale School of Medicine, New Haven, CT 06510., Aguilera SM; Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510., Yalbir E; Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510., Goles G; Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510., Nishimura S; Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510., Miyagishima D; Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510., Djenoune L; Cardiology Division, Department of Medicine, Cardiovascular Research Center, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02129., Altinok S; Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510., Rai DK; Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510., Viviano S; Department of Pediatrics, Yale School of Medicine, New Haven, CT 06510., Prendergast A; Department of Internal Medicine, Section of Cardiology, Yale Cardiovascular Research Center, Yale School of Medicine, New Haven, CT 06510., Zerillo C; Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510., Ozcan K; Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510., Baran B; Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510., Sencar L; Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510., Goc N; Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510., Yarman Y; Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510., Ercan-Sencicek AG; Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510., Bilguvar K; Department of Genetics, Yale School of Medicine, New Haven, CT 06510., Lifton RP; Department of Genetics, Yale School of Medicine, New Haven, CT 06510.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY 10065., Moliterno J; Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510.; Yale Program in Brain Tumor Research, Yale School of Medicine, New Haven, CT 06510., Louvi A; Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510.; Department of Neuroscience, Yale School of Medicine, New Haven, CT 06510., Yuan S; Cardiology Division, Department of Medicine, Cardiovascular Research Center, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02129., Deniz E; Department of Pediatrics, Yale School of Medicine, New Haven, CT 06510., Brueckner M; Department of Pediatrics, Yale School of Medicine, New Haven, CT 06510., Gunel M; Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510.; Department of Genetics, Yale School of Medicine, New Haven, CT 06510.; Yale Program in Brain Tumor Research, Yale School of Medicine, New Haven, CT 06510.; Department of Neuroscience, Yale School of Medicine, New Haven, CT 06510.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2023 Apr 18; Vol. 120 (16), pp. e2214997120. Date of Electronic Publication: 2023 Apr 12.

PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans.

Autor: Barak T; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Department of Neuroscience, Yale School of Medicine, New Haven, CT, USA.; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT, USA., Ristori E; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Yale Cardiovascular Research Center, Department of Internal Medicine, Section of Cardiology, Yale School of Medicine, New Haven, CT, USA., Ercan-Sencicek AG; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Department of Neuroscience, Yale School of Medicine, New Haven, CT, USA.; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT, USA., Miyagishima DF; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Department of Neuroscience, Yale School of Medicine, New Haven, CT, USA.; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT, USA., Nelson-Williams C; Department of Genetics, Yale School of Medicine, New Haven, CT, USA., Dong W; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA., Jin SC; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA., Prendergast A; Yale Cardiovascular Research Center, Department of Internal Medicine, Section of Cardiology, Yale School of Medicine, New Haven, CT, USA., Armero W; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Yale Cardiovascular Research Center, Department of Internal Medicine, Section of Cardiology, Yale School of Medicine, New Haven, CT, USA., Henegariu O; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Department of Neuroscience, Yale School of Medicine, New Haven, CT, USA.; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT, USA., Erson-Omay EZ; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Department of Neuroscience, Yale School of Medicine, New Haven, CT, USA.; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT, USA., Harmancı AS; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Department of Neuroscience, Yale School of Medicine, New Haven, CT, USA.; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT, USA., Guy M; Yale Center for Research Computing, Yale University, New Haven, CT, USA., Gültekin B; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Kilic D; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Rai DK; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Department of Neuroscience, Yale School of Medicine, New Haven, CT, USA.; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT, USA., Goc N; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Aguilera SM; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Gülez B; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Altinok S; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Ozcan K; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Yarman Y; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Coskun S; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Department of Neuroscience, Yale School of Medicine, New Haven, CT, USA.; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT, USA., Sempou E; Department of Pediatrics, Yale School of Medicine, New Haven, CT, USA., Deniz E; Department of Pediatrics, Yale School of Medicine, New Haven, CT, USA., Hintzen J; Yale Cardiovascular Research Center, Department of Internal Medicine, Section of Cardiology, Yale School of Medicine, New Haven, CT, USA., Cox A; Department of Genetics, Yale School of Medicine, New Haven, CT, USA., Fomchenko E; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Jung SW; Division of Nephrology, Department of Internal Medicine, Kyung Hee University Hospital at Gangdong, Seoul, Korea., Ozturk AK; Department of Neurosurgery, Pennsylvania Hospital, University of Pennsylvania Health System, Philadelphia, Pennsylvania, USA., Louvi A; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT, USA., Bilgüvar K; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT, USA.; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Connolly ES Jr; Department of Neurosurgery, Columbia University College of Physicians and Surgeons, New York, NY, USA., Khokha MK; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Department of Pediatrics, Yale School of Medicine, New Haven, CT, USA., Kahle KT; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Massachusetts Institute of Technology, Cambridge, MA, USA., Yasuno K; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Department of Neuroscience, Yale School of Medicine, New Haven, CT, USA.; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT, USA., Lifton RP; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA., Mishra-Gorur K; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA. ketu.mishra@yale.edu.; Department of Genetics, Yale School of Medicine, New Haven, CT, USA. ketu.mishra@yale.edu.; Department of Neuroscience, Yale School of Medicine, New Haven, CT, USA. ketu.mishra@yale.edu.; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT, USA. ketu.mishra@yale.edu., Nicoli S; Department of Genetics, Yale School of Medicine, New Haven, CT, USA. stefania.nicoli@yale.edu.; Yale Cardiovascular Research Center, Department of Internal Medicine, Section of Cardiology, Yale School of Medicine, New Haven, CT, USA. stefania.nicoli@yale.edu.; Department of Pharmacology, Yale School of Medicine, New Haven, CT, USA. stefania.nicoli@yale.edu., Günel M; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA. murat.gunel@yale.edu.; Department of Genetics, Yale School of Medicine, New Haven, CT, USA. murat.gunel@yale.edu.; Department of Neuroscience, Yale School of Medicine, New Haven, CT, USA. murat.gunel@yale.edu.; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT, USA. murat.gunel@yale.edu.

Publikováno v: Nature medicine [Nat Med] 2021 Dec; Vol. 27 (12), pp. 2165-2175. Date of Electronic Publication: 2021 Dec 09.

How Readable Is the Information the United Kingdom's Statutory Health and Social Care Professional Regulators Provide for the Public to Engage With Fitness to Practise Processes?

Autor: Haider, Sharif^1,2 sharif.haider@open.ac.uk, Wallace, Louise M.^1,2

Publikováno v: Health Expectations. Oct2024, Vol. 27 Issue 5, p1-8. 8p.

Beyond the Obstructive Paradigm: Unveiling the Complex Landscape of Nonobstructive Coronary Artery Disease.

Autor: Tudurachi, Andreea¹ (AUTHOR) leonteandreea32@gmail.com, Anghel, Larisa^1,2 (AUTHOR) alexandr.ceasovschih@yahoo.com, Tudurachi, Bogdan-Sorin^1,2 (AUTHOR) larisa.anghel@umfiasi.ro, Zăvoi, Alexandra^1,2 (AUTHOR) cristian.statescu@umfiasi.ro, Ceasovschih, Alexandr^2,3 (AUTHOR), Sascău, Radu Andy^1,2 (AUTHOR), Stătescu, Cristian^1,2 (AUTHOR)

Publikováno v: Journal of Clinical Medicine. Aug2024, Vol. 13 Issue 16, p4613. 20p.

Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.

Autor: Kaymakcalan H; Istanbul Bilim University, Istanbul, Turkey., Yarman Y; Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, New Haven, Connecticut., Goc N; Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, New Haven, Connecticut., Toy F; Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, New Haven, Connecticut., Meral C; Department of Pediatric Neurology, Sultan Abdulhamit Hospital, Istanbul, Turkey., Ercan-Sencicek AG; Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, New Haven, Connecticut., Gunel M; Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, New Haven, Connecticut.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2018 Feb; Vol. 176 (2), pp. 421-425. Date of Electronic Publication: 2017 Dec 11.