A family with two female siblings with compound heterozygous FMR1 premutation alleles

Autor: Basuta, K, Lozano, R, Schneider, A, Yrigollen, CM, Hessl, D, Hagerman, RJ, Tassone, F

Publikováno v: Clinical genetics, vol 85, iss 5

Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation (FMR1) gene have been linked to various types of clinical involvement ranging from mood and anxiety disorders to immunological disorders and executive function deficits. Car

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https://escholarship.org/uc/item/3hg3v5rf

FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea.

Autor: Rodrigues B; Molecular Genetics Laboratory, Laboratory Genetics Service, Genetics and Pathology Clinic, Unidade Local de Saúde de Santo António (ULSSA), Porto, Portugal.; UMIB - Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, UPorto - University of Porto, Porto, Portugal.; ITR - Laboratory for Integrative and Translational Research in Population Health, Porto, Portugal., Sousa V; Molecular Genetics Laboratory, Laboratory Genetics Service, Genetics and Pathology Clinic, Unidade Local de Saúde de Santo António (ULSSA), Porto, Portugal.; UMIB - Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, UPorto - University of Porto, Porto, Portugal.; ITR - Laboratory for Integrative and Translational Research in Population Health, Porto, Portugal.; Cytogenetics Laboratory, Department of Microscopy, ICBAS - School of Medicine and Biomedical Sciences, UPorto - University of Porto, Porto, Portugal., Yrigollen CM; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA, USA., Tassone F; Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, Stockton Blvd, USA.; MIND Institute, School of Medicine, University of California, Davis, CA, USA., Villate O; Pediatric Oncology Group, Biocruces Bizkaia Health Research Institute, Barakaldo, Biscay, Basque Country, Spain., Allen EG; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Glicksman A; New York State Institute for Basic Research in Developmental Disabilities, New York, NY, USA., Tortora N; New York State Institute for Basic Research in Developmental Disabilities, New York, NY, USA., Nolin SL; New York State Institute for Basic Research in Developmental Disabilities, New York, NY, USA., Nogueira AJA; CESAM - Center for Environmental and Marine Studies, Department of Biology, University of Aveiro, Aveiro, Portugal., Jorge P; Molecular Genetics Laboratory, Laboratory Genetics Service, Genetics and Pathology Clinic, Unidade Local de Saúde de Santo António (ULSSA), Porto, Portugal. paulajorge.icbas@gmail.com.; UMIB - Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, UPorto - University of Porto, Porto, Portugal. paulajorge.icbas@gmail.com.; ITR - Laboratory for Integrative and Translational Research in Population Health, Porto, Portugal. paulajorge.icbas@gmail.com.; Cytogenetics Laboratory, Department of Microscopy, ICBAS - School of Medicine and Biomedical Sciences, UPorto - University of Porto, Porto, Portugal. paulajorge.icbas@gmail.com.

Publikováno v: Reproductive biology and endocrinology : RB&E [Reprod Biol Endocrinol] 2024 Jun 21; Vol. 22 (1), pp. 71. Date of Electronic Publication: 2024 Jun 21.

Toxicity after AAV delivery of RNAi expression constructs into nonhuman primate brain.

Autor: Keiser MS; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia Research Institute, Philadelphia, PA, USA., Ranum PT; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia Research Institute, Philadelphia, PA, USA., Yrigollen CM; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia Research Institute, Philadelphia, PA, USA., Carrell EM; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia Research Institute, Philadelphia, PA, USA., Smith GR; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia Research Institute, Philadelphia, PA, USA., Muehlmatt AL; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia Research Institute, Philadelphia, PA, USA., Chen YH; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia Research Institute, Philadelphia, PA, USA., Stein JM; Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Wolf RL; Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Radaelli E; Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, USA., Lucas TJ 2nd; Department of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Gonzalez-Alegre P; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia Research Institute, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Davidson BL; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia Research Institute, Philadelphia, PA, USA. davidsonbl@chop.edu.; Department of Pathology & Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. davidsonbl@chop.edu.

Publikováno v: Nature medicine [Nat Med] 2021 Nov; Vol. 27 (11), pp. 1982-1989. Date of Electronic Publication: 2021 Oct 18.

Molecular biomarkers predictive of sertraline treatment response in young children with fragile X syndrome.

Autor: AlOlaby RR; Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Davis, CA, USA., Sweha SR; Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Davis, CA, USA., Silva M; Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Davis, CA, USA., Durbin-Johnson B; Department of Biostatistics, University of California, Davis, School of Medicine, Davis, CA, USA., Yrigollen CM; Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Davis, CA, USA., Pretto D; Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Davis, CA, USA., Hagerman RJ; MIND Institute, University of California Davis Medical Center, Davis, CA, USA; Department of Pediatrics, University of California, Davis, School of Medicine, Davis, CA, USA., Tassone F; Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Davis, CA, USA; MIND Institute, University of California Davis Medical Center, Davis, CA, USA. Electronic address: ftassone@ucdavis.edu.

Publikováno v: Brain & development [Brain Dev] 2017 Jun; Vol. 39 (6), pp. 483-492. Date of Electronic Publication: 2017 Feb 24.

Differential increases of specific FMR1 mRNA isoforms in premutation carriers.

Autor: Pretto DI; Department of Biochemistry and Molecular Medicine, University of California, School of Medicine, Davis, California, USA., Eid JS; Pacific Biosciences, Menlo Park, California, USA., Yrigollen CM; Department of Biochemistry and Molecular Medicine, University of California, School of Medicine, Davis, California, USA., Tang HT; Department of Biochemistry and Molecular Medicine, University of California, School of Medicine, Davis, California, USA., Loomis EW; Department of Biochemistry and Molecular Medicine, University of California, School of Medicine, Davis, California, USA., Raske C; Department of Biochemistry and Molecular Medicine, University of California, School of Medicine, Davis, California, USA., Durbin-Johnson B; Department of Public Health Sciences, University of California Davis, School of Medicine, Davis, California, USA., Hagerman PJ; Department of Biochemistry and Molecular Medicine, University of California, School of Medicine, Davis, California, USA MIND Institute, University of California Davis Medical Center, Sacramento, California, USA., Tassone F; Department of Biochemistry and Molecular Medicine, University of California, School of Medicine, Davis, California, USA MIND Institute, University of California Davis Medical Center, Sacramento, California, USA.

Publikováno v: Journal of medical genetics [J Med Genet] 2015 Jan; Vol. 52 (1), pp. 42-52. Date of Electronic Publication: 2014 Oct 30.