Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on

Humans Fragile X Mental Retardation Protein / genetics Mutation / genetics RNA, Messenger / metabolism Trinucleotide Repeat Expansion / genetics Fragile X Syndrome / diagnosis
FMR1 molecular and clinical FMR1 premutation FXAND FXPAC FXPOI FXTAS

Journal

Cells
ISSN: 2073-4409
Titre abrégé: Cells
Pays: Switzerland
ID NLM: 101600052

Informations de publication

Date de publication:
21 09 2023
Historique:
received: 04 07 2023
revised: 09 09 2023
accepted: 12 09 2023
medline: 6 11 2023
pubmed: 28 9 2023
entrez: 28 9 2023
Statut: epublish

Résumé

The premutation of the fragile X messenger ribonucleoprotein 1 (

Identifiants

DOI: 10.3390/cells12182330 PMID: 37759552 PMC: PMC10529056
pubmed: 37759552
pii: cells12182330
doi: 10.3390/cells12182330
pmc: PMC10529056
pii:
doi:

Substances chimiques

FMR1 protein, human 0
Fragile X Mental Retardation Protein 139135-51-6
RNA, Messenger 0

Types de publication

Journal Article Research Support, N.I.H., Extramural Review

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : NINDS NIH HHS
ID : K01 NS126736
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD103538
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS086810
Pays : United States

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Auteurs

Flora Tassone (F)

Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, CA 95817, USA.
MIND Institute, University of California Davis, Davis, CA 95817, USA.
ORCID: 0000-0002-6388-9180

Dragana Protic (D)

Department of Pharmacology, Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Belgrade, 11129 Belgrade, Serbia.
Fragile X Clinic, Special Hospital for Cerebral Palsy and Developmental Neurology, 11040 Belgrade, Serbia.
ORCID: 0000-0002-2137-5405

Emily Graves Allen (EG)

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

Alison D Archibald (AD)

Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC 3052, Australia.
Genomics in Society Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
ORCID: 0000-0002-4496-8262

Anna Baud (A)

Department of Gene Expression, Institute of Molecular Biology and Biotechnology, Adam Mickiewicz University, Uniwersytetu Poznańskiego 6, 61-614 Poznan, Poland.

Ted W Brown (TW)

Central Clinical School, University of Sydney, Sydney, NSW 2006, Australia.
Fragile X Association of Australia, Brookvale, NSW 2100, Australia.
NYS Institute for Basic Research in Developmental Disabilities, New York, NY 10314, USA.

Dejan B Budimirovic (DB)

Department of Psychiatry, Fragile X Clinic, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
Department of Psychiatry & Behavioral Sciences-Child Psychiatry, School of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA.
ORCID: 0000-0001-7263-5134

Jonathan Cohen (J)

Fragile X Alliance Clinic, Melbourne, VIC 3161, Australia.
ORCID: 0000-0002-9998-4681

Brett Dufour (B)

MIND Institute, University of California Davis, Davis, CA 95817, USA.
Department of Pathology and Laboratory Medicine, Institute for Pediatric Regenerative Medicine, Shriners Hospitals for Children of Northern California, School of Medicine, University of California Davis, Sacramento, CA 95817, USA.

Rachel Eiges (R)

Stem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center Affiliated with the Hebrew University School of Medicine, Jerusalem 91031, Israel.

Nicola Elvassore (N)

Veneto Institute of Molecular Medicine (VIMM), 35129 Padova, Italy.
Department of Industrial Engineering, University of Padova, 35131 Padova, Italy.

Lidia V Gabis (LV)

Keshet Autism Center Maccabi Wolfson, Holon 5822012, Israel.
Faculty of Medicine, Tel-Aviv University, Tel Aviv 6997801, Israel.
ORCID: 0000-0002-1612-5487

Samantha J Grudzien (SJ)

Department of Neurology, University of Michigan, 4148 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI 48109, USA.
Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI 48109, USA.
Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA.

Deborah A Hall (DA)

Department of Neurological Sciences, Rush University, Chicago, IL 60612, USA.

David Hessl (D)

MIND Institute, University of California Davis, Davis, CA 95817, USA.
Department of Psychiatry and Behavioral Sciences, School of Medicine, University of California Davis, Sacramento, CA 95817, USA.
ORCID: 0000-0002-3460-9805

Abigail Hogan (A)

Department of Communication Sciences and Disorders, Arnold School of Public Health, University of South Carolina, Columbia, SC 29208, USA.

Jessica Ezzell Hunter (JE)

RTI International, Research Triangle Park, NC 27709, USA.

Peng Jin (P)

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
ORCID: 0000-0001-6137-6659

Poonnada Jiraanont (P)

Faculty of Medicine, King Mongkut's Institute of Technology Ladkrabang, Bangkok 10520, Thailand.

Jessica Klusek (J)

Department of Communication Sciences and Disorders, Arnold School of Public Health, University of South Carolina, Columbia, SC 29208, USA.
ORCID: 0000-0002-2818-0344

R Frank Kooy (RF)

Department of Medical Genetics, University of Antwerp, 2000 Antwerp, Belgium.
ORCID: 0000-0003-2024-0485

Claudine M Kraan (CM)

Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC 3052, Australia.
Diagnosis and Development, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
ORCID: 0000-0003-1805-6339

Cecilia Laterza (C)

Veneto Institute of Molecular Medicine (VIMM), 35129 Padova, Italy.
Department of Industrial Engineering, University of Padova, 35131 Padova, Italy.
ORCID: 0000-0002-3964-3375

Andrea Lee (A)

Fragile X New Zealand, Nelson 7040, New Zealand.

Karen Lipworth (K)

Fragile X Association of Australia, Brookvale, NSW 2100, Australia.

Molly Losh (M)

Roxelyn and Richard Pepper Department of Communication Sciences and Disorders, Northwestern University, Evanston, IL 60201, USA.

Danuta Loesch (D)

School of Psychology and Public Health, La Trobe University, Melbourne, VIC 3086, Australia.
ORCID: 0000-0002-2180-2606

Reymundo Lozano (R)

Departments of Genetics and Genomic Sciences and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
ORCID: 0000-0002-5616-5854

Marsha R Mailick (MR)

Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA.

Apostolos Manolopoulos (A)

Intramural Research Program, Laboratory of Clinical Investigation, National Institute on Aging, Baltimore, MD 21224, USA.
ORCID: 0000-0003-1055-0324

Veronica Martinez-Cerdeno (V)

MIND Institute, University of California Davis, Davis, CA 95817, USA.
Department of Pathology and Laboratory Medicine, Institute for Pediatric Regenerative Medicine, Shriners Hospitals for Children of Northern California, School of Medicine, University of California Davis, Sacramento, CA 95817, USA.

Yingratana McLennan (Y)

Department of Pathology and Laboratory Medicine, Institute for Pediatric Regenerative Medicine, Shriners Hospitals for Children of Northern California, School of Medicine, University of California Davis, Sacramento, CA 95817, USA.

Robert M Miller (RM)

National Fragile X Foundation, Washington, DC 20005, USA.

Federica Alice Maria Montanaro (FAM)

Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Department of Education, Psychology, Communication, University of Bari Aldo Moro, 70121 Bari, Italy.
ORCID: 0000-0001-7293-2315

Matthew W Mosconi (MW)

Schiefelbusch Institute for Life Span Studies, University of Kansas, Lawrence, KS 66045, USA.
Clinical Child Psychology Program, University of Kansas, Lawrence, KS 66045, USA.
Kansas Center for Autism Research and Training (K-CART), University of Kansas, Lawrence, KS 66045, USA.

Sarah Nelson Potter (SN)

RTI International, Research Triangle Park, NC 27709, USA.
ORCID: 0000-0002-8640-8992

Melissa Raspa (M)

RTI International, Research Triangle Park, NC 27709, USA.
ORCID: 0000-0003-3791-3367

Susan M Rivera (SM)

Department of Psychology, University of Maryland, College Park, MD 20742, USA.

Katharine Shelly (K)

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

Peter K Todd (PK)

Department of Neurology, University of Michigan, 4148 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI 48109, USA.
Ann Arbor Veterans Administration Healthcare, Ann Arbor, MI 48105, USA.
ORCID: 0000-0003-4781-6376

Katarzyna Tutak (K)

Department of Gene Expression, Institute of Molecular Biology and Biotechnology, Adam Mickiewicz University, Uniwersytetu Poznańskiego 6, 61-614 Poznan, Poland.
ORCID: 0000-0002-2801-9956

Jun Yi Wang (JY)

Center for Mind and Brain, University of California Davis, Davis, CA 95618, USA.

Anne Wheeler (A)

RTI International, Research Triangle Park, NC 27709, USA.

Tri Indah Winarni (TI)

Center for Biomedical Research (CEBIOR), Faculty of Medicine, Universitas Diponegoro, Semarang 502754, Central Java, Indonesia.

Marwa Zafarullah (M)

Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, CA 95817, USA.
ORCID: 0000-0003-1856-0535

Randi J Hagerman (RJ)

MIND Institute, University of California Davis, Davis, CA 95817, USA.
Department of Pediatrics, School of Medicine, University of California Davis, Sacramento, CA 95817, USA.
ORCID: 0000-0001-5029-8448

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