Temat: "MENTAL-RETARDATION" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Genetic analysis of a pedigree with MECP2 duplication syndrome in China.
Autorzy:: Zeng L; Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, Sichuan, China.
Zhu H; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, No. 290, Sha Yan West 2Nd Road, Chengdu, 610031, Sichuan, China.
Wang J; Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, Sichuan, China.
Wang Q; Department of Radiology, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, Sichuan, China.
Pang Y; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, No. 290, Sha Yan West 2Nd Road, Chengdu, 610031, Sichuan, China.
Luo Z; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, No. 290, Sha Yan West 2Nd Road, Chengdu, 610031, Sichuan, China.
Chen A; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, No. 290, Sha Yan West 2Nd Road, Chengdu, 610031, Sichuan, China.
Qin S; Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, Sichuan, China.
Zhu S; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, No. 290, Sha Yan West 2Nd Road, Chengdu, 610031, Sichuan, China. .; Pokaż więcej
Źródło:: BMC medical genomics [BMC Med Genomics] 2024 Feb 19; Vol. 17 (1), pp. 54. Date of Electronic Publication: 2024 Feb 19.
Typ publikacji:: Journal Article
MeSH Terms:: DNA Copy Number Variations*
Gene Duplication*
Mental Retardation, X-Linked*/genetics
Child ; Female ; Humans ; Infant, Newborn ; Male ; China ; Pedigree ; Methyl-CpG-Binding Protein 2/genetics
SCR Disease Name:: Lubs X-linked mental retardation syndrome

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Skocz do pozycji: 2.

Tytuł:: Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges
Autorzy:: Freund MET; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands
van der Most F; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands
Visser WE; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands; Pokaż więcej
Źródło:: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Mar 11; Vol. 16 (1), pp. 1-3. Date of Electronic Publication: 2024 Feb 12.
Typ publikacji:: Journal Article
MeSH Terms:: Mental Retardation, X-Linked*
Humans ; Muscle Hypotonia ; Muscular Atrophy ; Mutation ; Longitudinal Studies ; Monocarboxylic Acid Transporters/genetics

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Skocz do pozycji: 3.

Tytuł:: Impact of Early Intervention with Triiodothyroacetic Acid on Peripheral and Neurodevelopmental Findings in a Boy with MCT8 Deficiency
Autorzy:: Ünsal Y; Şanlıurfa Training and Research Hospital, Clinic of Pediatric Endocrinology, Şanlıurfa, Turkey
Hayran G; Şanlıurfa Training and Research Hospital, Clinic of Developmental Pediatrics, Şanlıurfa, Turkey; Pokaż więcej
Źródło:: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Mar 11; Vol. 16 (1), pp. 116-122. Date of Electronic Publication: 2023 Dec 06.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Mental Retardation, X-Linked*/diagnosis
Disabled Persons*
Motor Disorders*
Thyrotoxicosis*
Hyperthyroidism*
Symporters*/genetics
Symporters*/therapeutic use
Triiodothyronine/*analogs & derivatives
Male ; Infant ; Humans ; Muscle Hypotonia/diagnosis ; Muscle Hypotonia/drug therapy ; Muscle Hypotonia/genetics ; Muscular Atrophy/diagnosis ; Muscular Atrophy/drug therapy ; Muscular Atrophy/genetics ; Monocarboxylic Acid Transporters/genetics ; Monocarboxylic Acid Transporters/therapeutic use
SCR Disease Name:: Allan-Herndon-Dudley syndrome

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Skocz do pozycji: 4.

Tytuł:: A decentralized approach for the aerial manipulator robust trajectory tracking.
Autorzy:: Tlatelpa-Osorio YE; Sección de Mecatrónica, Deparatamento de Ingeniería Eléctrica del Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional, Ciudad de México, México.
Rodríguez-Cortés H; Sección de Mecatrónica, Deparatamento de Ingeniería Eléctrica del Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional, Ciudad de México, México.
Acosta JÁ; Departamento de Ingeniería de Sistemas y Automática, Universidad de Sevilla, Sevilla, Spain.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2024 Mar 07; Vol. 19 (3), pp. e0299223. Date of Electronic Publication: 2024 Mar 07 (Print Publication: 2024).
Typ publikacji:: Journal Article
MeSH Terms:: Mental Retardation, X-Linked*
Optic Atrophy*
Humans ; Wind

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Skocz do pozycji: 5.

Tytuł:: Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome.
Autorzy:: Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA. .; Blue Bird Circle Rett Center, Texas Children's Hospital, Houston, TX, 77030, USA. .
Aras S; Department of Genetics, Section of Metabolic Diseases, Children's Hospital of Philadelphia, Philadelphia, PA, 19146, USA.
Glaze DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Blue Bird Circle Rett Center, Texas Children's Hospital, Houston, TX, 77030, USA.
Ak M; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.
Suter B; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Blue Bird Circle Rett Center, Texas Children's Hospital, Houston, TX, 77030, USA.
Motil KJ; Children's Nutrition Research Center, Baylor College of Medicine, 1100 Bates Street, Houston, TX, 77030, USA. .; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA. .; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 09; Vol. 19 (1), pp. 52. Date of Electronic Publication: 2024 Feb 09.
Typ publikacji:: Journal Article
MeSH Terms:: Parents*
Mental Retardation, X-Linked*
Humans ; Reproducibility of Results ; Psychometrics/methods ; Surveys and Questionnaires
SCR Disease Name:: Lubs X-linked mental retardation syndrome

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Skocz do pozycji: 6.

Tytuł:: Hemizygous splicing variant in CNKSR2 results in X-linked intellectual developmental disorder.
Autorzy:: Lou Y; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Shi X; Department of Pediatrics, Suichang Branch of the Second Affiliated Hospital School of Medicine, Zhejiang University, Hangzhou, China.
Su G; Department of Pediatrics, Songyang Branch of the Second Affiliated Hospital School of Medicine, Zhejiang University, Hangzhou, China.
Guo Y; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Gao L; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Wang Y; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Miao P; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Feng J; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Feb; Vol. 12 (2), pp. e2389.
Typ publikacji:: Journal Article
MeSH Terms:: Mental Retardation, X-Linked*/genetics
Intellectual Disability*/genetics
Intellectual Disability*/diagnosis
Neurodevelopmental Disorders*
Male ; Child ; Humans ; Developmental Disabilities/genetics ; RNA Splicing ; Adaptor Proteins, Signal Transducing/genetics

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Skocz do pozycji: 7.

Tytuł:: FMRP Enhances the Translation of 4EBP2 mRNA during Neuronal Differentiation.
Autorzy:: Yu J; Department of Life Sciences, Pohang University of Science and Technology (POSTECH), Pohang 37673, Gyeongsangbuk, Republic of Korea.
Woo Y; Department of Life Sciences, Pohang University of Science and Technology (POSTECH), Pohang 37673, Gyeongsangbuk, Republic of Korea.
Kim H; Department of Life Sciences, Pohang University of Science and Technology (POSTECH), Pohang 37673, Gyeongsangbuk, Republic of Korea.
An S; Department of Life Sciences, Pohang University of Science and Technology (POSTECH), Pohang 37673, Gyeongsangbuk, Republic of Korea.
Park SK; Department of Life Sciences, Pohang University of Science and Technology (POSTECH), Pohang 37673, Gyeongsangbuk, Republic of Korea.
Jang SK; Department of Life Sciences, Pohang University of Science and Technology (POSTECH), Pohang 37673, Gyeongsangbuk, Republic of Korea.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Nov 14; Vol. 24 (22). Date of Electronic Publication: 2023 Nov 14.
Typ publikacji:: Journal Article
MeSH Terms:: Fragile X Mental Retardation Protein*/genetics
Fragile X Mental Retardation Protein*/metabolism
Fragile X Syndrome*/genetics
Humans ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Eukaryotic Initiation Factor-4E/genetics ; Eukaryotic Initiation Factor-4E/metabolism ; Neurons/metabolism ; Cell Differentiation/genetics

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Skocz do pozycji: 8.

Tytuł:: Neurovascular unit disruption and blood-brain barrier leakage in MCT8 deficiency.
Autorzy:: Guillén-Yunta M; Laboratory of Thyroid Hormones and CNS, Department of Endocrine and Nervous System Pathophysiology, Instituto de Investigaciones Biomédicas 'Alberto-Sols', Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), C/ Arturo Duperier 4, 28029, Madrid, Spain.
Valcárcel-Hernández V; Laboratory of Thyroid Hormones and CNS, Department of Endocrine and Nervous System Pathophysiology, Instituto de Investigaciones Biomédicas 'Alberto-Sols', Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), C/ Arturo Duperier 4, 28029, Madrid, Spain.
García-Aldea Á; Laboratory of Thyroid Hormones and CNS, Department of Endocrine and Nervous System Pathophysiology, Instituto de Investigaciones Biomédicas 'Alberto-Sols', Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), C/ Arturo Duperier 4, 28029, Madrid, Spain.
Soria G; Laboratory of Surgical and Experimental Neuroanatomy, Faculty of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, Barcelona, Spain.
García-Verdugo JM; Laboratory of Comparative Neurobiology, Cavanilles Institute of Biodiversity and Evolutionary Biology and Department of Cellular Biology, University of Valencia and CIBERNED-ISCIII, Valencia, Spain.
Montero-Pedrazuela A; Laboratory of Thyroid Hormones and CNS, Department of Endocrine and Nervous System Pathophysiology, Instituto de Investigaciones Biomédicas 'Alberto-Sols', Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), C/ Arturo Duperier 4, 28029, Madrid, Spain. .
Guadaño-Ferraz A; Laboratory of Thyroid Hormones and CNS, Department of Endocrine and Nervous System Pathophysiology, Instituto de Investigaciones Biomédicas 'Alberto-Sols', Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), C/ Arturo Duperier 4, 28029, Madrid, Spain. .; Pokaż więcej
Źródło:: Fluids and barriers of the CNS [Fluids Barriers CNS] 2023 Nov 03; Vol. 20 (1), pp. 79. Date of Electronic Publication: 2023 Nov 03.
Typ publikacji:: Journal Article
MeSH Terms:: Mental Retardation, X-Linked*/diagnosis
Mental Retardation, X-Linked*/genetics
Mental Retardation, X-Linked*/pathology
Symporters*/genetics
Symporters*/metabolism
Symporters*/therapeutic use
Animals ; Humans ; Mice ; Blood-Brain Barrier/metabolism ; Immunoglobulin G ; Monocarboxylic Acid Transporters/genetics ; Monocarboxylic Acid Transporters/metabolism ; Muscle Hypotonia/diagnosis ; Muscle Hypotonia/genetics ; Muscle Hypotonia/metabolism ; Muscular Atrophy/diagnosis ; Muscular Atrophy/genetics ; Muscular Atrophy/metabolism ; Thyroid Hormones/metabolism ; Thyroid Hormones/therapeutic use
SCR Disease Name:: Allan-Herndon-Dudley syndrome

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Skocz do pozycji: 9.

Tytuł:: The Identification of Nuclear FMRP Isoform Iso6 Partners.
Autorzy:: Ledoux N; Centre de Recherche du CHU de Québec-Université Laval, Axe Oncologie, Département de Biologie Moléculaire, Biochimie Médicale et Pathologie, Faculté de Médecine, Université Laval, Québec, QC G1V 0A6, Canada.
Lelong EIJ; Centre de Recherche du CHU de Québec-Université Laval, Axe Oncologie, Département de Biologie Moléculaire, Biochimie Médicale et Pathologie, Faculté de Médecine, Université Laval, Québec, QC G1V 0A6, Canada.
Simard A; Centre de Recherche du CHU de Québec-Université Laval, Axe Oncologie, Département de Biologie Moléculaire, Biochimie Médicale et Pathologie, Faculté de Médecine, Université Laval, Québec, QC G1V 0A6, Canada.
Hussein S; Centre de Recherche du CHU de Québec-Université Laval, Axe Oncologie, Département de Biologie Moléculaire, Biochimie Médicale et Pathologie, Faculté de Médecine, Université Laval, Québec, QC G1V 0A6, Canada.
Adjibade P; Centre de Recherche du CHU de Québec-Université Laval, Axe Oncologie, Département de Biologie Moléculaire, Biochimie Médicale et Pathologie, Faculté de Médecine, Université Laval, Québec, QC G1V 0A6, Canada.
Lambert JP; Centre de Recherche du CHU de Québec-Université Laval, Axe Endocrinologie et néphrologie, Département de Médecine Moléculaire, Faculté de Médecine, Université Laval, Québec, QC G1V 0A6, Canada.; PROTEO, Le Regroupement Québécois De Recherche Sur La Fonction, L'ingénierie et Les Applications des Protéines, Université Laval, Québec, QC G1V 0A6, Canada.
Mazroui R; Centre de Recherche du CHU de Québec-Université Laval, Axe Oncologie, Département de Biologie Moléculaire, Biochimie Médicale et Pathologie, Faculté de Médecine, Université Laval, Québec, QC G1V 0A6, Canada.; Pokaż więcej
Źródło:: Cells [Cells] 2023 Dec 09; Vol. 12 (24). Date of Electronic Publication: 2023 Dec 09.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Fragile X Mental Retardation Protein*/genetics
Proteasome Endopeptidase Complex*/metabolism
Protein Isoforms/metabolism ; Alternative Splicing ; DNA/metabolism

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Skocz do pozycji: 10.

Tytuł:: FMRP deficiency leads to multifactorial dysregulation of splicing and mislocalization of MBNL1 to the cytoplasm.
Autorzy:: Jung S; Program in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts, United States of America.
Shah S; Program in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts, United States of America.
Han G; Molecular Microbiology and Immunology, Brown University, Providence, Rhode Island, United States of America.
Richter JD; Program in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts, United States of America.; Pokaż więcej
Źródło:: PLoS biology [PLoS Biol] 2023 Dec 04; Vol. 21 (12), pp. e3002417. Date of Electronic Publication: 2023 Dec 04 (Print Publication: 2023).
Typ publikacji:: Journal Article
MeSH Terms:: Fragile X Mental Retardation Protein*/genetics
RNA Splicing*/genetics
Animals ; Humans ; Mice ; Cytoplasm/metabolism ; Heterogeneous-Nuclear Ribonucleoproteins/genetics ; Heterogeneous-Nuclear Ribonucleoproteins/metabolism ; Polypyrimidine Tract-Binding Protein/genetics ; Polypyrimidine Tract-Binding Protein/metabolism ; Protein Isoforms/metabolism ; RNA/metabolism ; RNA-Binding Proteins/genetics ; RNA-Binding Proteins/metabolism

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Skocz do pozycji: 11.

Tytuł:: Novel SLC16A2 Gene Mutation: A Rare Case of Delayed Myelination with Dysthyroidism,v Allan-Herndon-Dudley Syndrome.
Autorzy:: Mahesan A; Division of Pediatric Neurology, Department of Pediatrics, AIIMS, New Delhi, India.
Kamila G; Division of Pediatric Neurology, Department of Pediatrics, AIIMS, New Delhi, India.
Choudhary P; Division of Pediatric Neurology, Department of Pediatrics, AIIMS, New Delhi, India.
Jauhari P; Division of Pediatric Neurology, Department of Pediatrics, AIIMS, New Delhi, India.
Chakrabarty B; Division of Pediatric Neurology, Department of Pediatrics, AIIMS, New Delhi, India.
Kumar A; Department of Radiodiagnosis, AIIMS, New Delhi, India.
Gulati S; Division of Pediatric Neurology, Department of Pediatrics, AIIMS, New Delhi, India.; Pokaż więcej
Źródło:: Neurology India [Neurol India] 2023 Nov-Dec; Vol. 71 (6), pp. 1282-1283.
Typ publikacji:: Case Reports; Letter
MeSH Terms:: Mental Retardation, X-Linked*/genetics
Symporters*/genetics
Humans ; Muscle Hypotonia/genetics ; Muscular Atrophy/genetics ; Mutation/genetics ; Monocarboxylic Acid Transporters/genetics
SCR Disease Name:: Allan-Herndon-Dudley syndrome

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Skocz do pozycji: 12.

Tytuł:: Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.
Autorzy:: 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.
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.
Allen EG; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
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.
Baud A; Department of Gene Expression, Institute of Molecular Biology and Biotechnology, Adam Mickiewicz University, Uniwersytetu Poznańskiego 6, 61-614 Poznan, Poland.
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.
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.
Cohen J; Fragile X Alliance Clinic, Melbourne, VIC 3161, Australia.
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.
Eiges R; Stem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center Affiliated with the Hebrew University School of Medicine, Jerusalem 91031, Israel.
Elvassore N; Veneto Institute of Molecular Medicine (VIMM), 35129 Padova, Italy.; Department of Industrial Engineering, University of Padova, 35131 Padova, Italy.
Gabis LV; Keshet Autism Center Maccabi Wolfson, Holon 5822012, Israel.; Faculty of Medicine, Tel-Aviv University, Tel Aviv 6997801, Israel.
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.
Hall DA; Department of Neurological Sciences, Rush University, Chicago, IL 60612, USA.
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.
Hogan A; Department of Communication Sciences and Disorders, Arnold School of Public Health, University of South Carolina, Columbia, SC 29208, USA.
Hunter JE; RTI International, Research Triangle Park, NC 27709, USA.
Jin P; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Jiraanont P; Faculty of Medicine, King Mongkut's Institute of Technology Ladkrabang, Bangkok 10520, Thailand.
Klusek J; Department of Communication Sciences and Disorders, Arnold School of Public Health, University of South Carolina, Columbia, SC 29208, USA.
Kooy RF; Department of Medical Genetics, University of Antwerp, 2000 Antwerp, Belgium.
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.
Laterza C; Veneto Institute of Molecular Medicine (VIMM), 35129 Padova, Italy.; Department of Industrial Engineering, University of Padova, 35131 Padova, Italy.
Lee A; Fragile X New Zealand, Nelson 7040, New Zealand.
Lipworth K; Fragile X Association of Australia, Brookvale, NSW 2100, Australia.
Losh M; Roxelyn and Richard Pepper Department of Communication Sciences and Disorders, Northwestern University, Evanston, IL 60201, USA.
Loesch D; School of Psychology and Public Health, La Trobe University, Melbourne, VIC 3086, Australia.
Lozano R; Departments of Genetics and Genomic Sciences and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Mailick MR; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA.
Manolopoulos A; Intramural Research Program, Laboratory of Clinical Investigation, National Institute on Aging, Baltimore, MD 21224, USA.
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.
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.
Miller RM; National Fragile X Foundation, Washington, DC 20005, USA.
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.
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.
Potter SN; RTI International, Research Triangle Park, NC 27709, USA.
Raspa M; RTI International, Research Triangle Park, NC 27709, USA.
Rivera SM; Department of Psychology, University of Maryland, College Park, MD 20742, USA.
Shelly K; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
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.
Tutak K; Department of Gene Expression, Institute of Molecular Biology and Biotechnology, Adam Mickiewicz University, Uniwersytetu Poznańskiego 6, 61-614 Poznan, Poland.
Wang JY; Center for Mind and Brain, University of California Davis, Davis, CA 95618, USA.
Wheeler A; RTI International, Research Triangle Park, NC 27709, USA.
Winarni TI; Center for Biomedical Research (CEBIOR), Faculty of Medicine, Universitas Diponegoro, Semarang 502754, Central Java, Indonesia.
Zafarullah M; Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, CA 95817, USA.
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.; Pokaż więcej
Źródło:: Cells [Cells] 2023 Sep 21; Vol. 12 (18). Date of Electronic Publication: 2023 Sep 21.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Review
MeSH Terms:: Fragile X Mental Retardation Protein*/genetics
Fragile X Mental Retardation Protein*/metabolism
Fragile X Syndrome*/diagnosis
Fragile X Syndrome*/genetics
Fragile X Syndrome*/therapy
Humans ; Mutation/genetics ; RNA, Messenger/metabolism ; Trinucleotide Repeat Expansion/genetics
SCR Disease Name:: Fragile X Tremor Ataxia Syndrome

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Skocz do pozycji: 13.

Tytuł:: An insertion mutation of the MECP2 gene in severe neonatal encephalopathy and ocular and oropharyngeal dyskinesia: a case report.
Autorzy:: Liang J; Department of Pediatric, Neurology of Jilin University, 1 Xinmin Street, Changchun, 130000, Jilin Province, China.; Jilin Provincial Key Laboratory of Pediatric Neurology, Changchun, China.
Xin C; Department of Pediatric, Neurology of Jilin University, 1 Xinmin Street, Changchun, 130000, Jilin Province, China.
Xin M; Department of Pediatric, Neurology of Jilin University, 1 Xinmin Street, Changchun, 130000, Jilin Province, China.
Wang G; Department of Cardiology, Jiren Hospital of Far Eastern Horizon, Anda, China.
Wu X; Department of Pediatric, Neurology of Jilin University, 1 Xinmin Street, Changchun, 130000, Jilin Province, China. .; Jilin Provincial Key Laboratory of Pediatric Neurology, Changchun, China. .; Pokaż więcej
Źródło:: BMC medical genomics [BMC Med Genomics] 2023 Aug 03; Vol. 16 (1), pp. 181. Date of Electronic Publication: 2023 Aug 03.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Brain Diseases*/genetics
Dyskinesias*/genetics
Mental Retardation, X-Linked*/genetics
Rett Syndrome*/genetics
Rett Syndrome*/diagnosis
Rett Syndrome*/pathology
Humans ; Male ; Methyl-CpG-Binding Protein 2/genetics ; Mutagenesis, Insertional ; Mutation ; Phenotype

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Skocz do pozycji: 14.

Tytuł:: Lipopolysaccharide-induced sickness behavior is not altered in male Fmr1-deficient mice.
Autorzy:: Santana-Coelho D; Department of Psychology and Neuroscience, Baylor University, Waco, Texas, USA.
Hodges SL; Institute of Biomedical Studies, Baylor University, Waco, Texas, USA.; Department of Biology, Baylor University, Waco, Texas, USA.
Quintero SI; Department of Psychology and Neuroscience, Baylor University, Waco, Texas, USA.
Womble PD; Department of Psychology and Neuroscience, Baylor University, Waco, Texas, USA.
Sullens DG; Department of Psychology and Neuroscience, Baylor University, Waco, Texas, USA.
Narvaiz DA; Department of Psychology and Neuroscience, Baylor University, Waco, Texas, USA.
Herrera R; Department of Psychology and Neuroscience, Baylor University, Waco, Texas, USA.
Sekeres MJ; Department of Psychology and Neuroscience, Baylor University, Waco, Texas, USA.
Lugo JN; Department of Psychology and Neuroscience, Baylor University, Waco, Texas, USA.; Institute of Biomedical Studies, Baylor University, Waco, Texas, USA.; Department of Biology, Baylor University, Waco, Texas, USA.; Pokaż więcej
Źródło:: Brain and behavior [Brain Behav] 2023 Aug; Vol. 13 (8), pp. e3142. Date of Electronic Publication: 2023 Jul 05.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:: Fragile X Mental Retardation Protein*/genetics
Illness Behavior*/physiology
Animals ; Male ; Mice ; Behavior, Animal ; Depression/drug therapy ; Disease Models, Animal ; Inflammation/chemically induced ; Interleukin-6 ; Lipopolysaccharides/pharmacology ; Mice, Knockout ; Motor Activity/physiology

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Skocz do pozycji: 15.

Tytuł:: Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation.
Autorzy:: Protic D; Department of Pharmacology, Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
Polli R; Laboratory of Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, 35128 Padova, Italy.; Fondazione Istituto di Ricerca Pediatrica, Città della Speranza, 35128 Padova, Italy.
Hwang YH; Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, CA 95817, USA.
Mendoza G; Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, CA 95817, USA.
Hagerman R; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute UCDH, University of California Davis, Sacramento, CA 95817, USA.; Department of Pediatrics, School of Medicine, University of California Davis, Sacramento, CA 95817, USA.
Durbin-Johnson B; Department of Public Health Sciences, Division of Biostatistics, University of California, Davis, CA 95616, USA.
Hayward BE; Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
Usdin K; Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
Murgia A; Laboratory of Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, 35128 Padova, Italy.; Fondazione Istituto di Ricerca Pediatrica, Città della Speranza, 35128 Padova, Italy.
Tassone F; Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, CA 95817, USA.; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute UCDH, University of California Davis, Sacramento, CA 95817, USA.; Pokaż więcej
Źródło:: Cells [Cells] 2023 Jun 24; Vol. 12 (13). Date of Electronic Publication: 2023 Jun 24.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:: Fragile X Mental Retardation Protein*/genetics
Fragile X Mental Retardation Protein*/metabolism
Female ; Animals ; Reproducibility of Results ; Heterozygote ; Methylation ; Alleles

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Skocz do pozycji: 16.

Tytuł:: Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome.
Autorzy:: Guo Q; Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.
Kouyama-Suzuki E; Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.
Shirai Y; Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.
Cao X; College of Life Science and Oceanography, Shenzhen University, Shenzhen 518071, China.
Yanagawa T; Department of Oral and Maxillofacial Surgery, Faculty of Medicine, University of Tsukuba, Tsukuba 305-8575, Japan.
Mori T; Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.; Department of NeuroHealth Innovation, Institute for Biomedical Sciences, Interdisciplinary Cluster for Cutting Edge Research, Shinshu University, Matsumoto 390-8621, Japan.
Tabuchi K; Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.; Department of NeuroHealth Innovation, Institute for Biomedical Sciences, Interdisciplinary Cluster for Cutting Edge Research, Shinshu University, Matsumoto 390-8621, Japan.; Pokaż więcej
Źródło:: Cells [Cells] 2023 Apr 18; Vol. 12 (8). Date of Electronic Publication: 2023 Apr 18.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Cerebellum*/metabolism
Cerebellum*/pathology
Mental Retardation, X-Linked*/genetics
Mental Retardation, X-Linked*/metabolism
Mental Retardation, X-Linked*/pathology
Microcephaly*/genetics
Microcephaly*/metabolism
Microcephaly*/pathology
Guanylate Kinases*/chemistry
Guanylate Kinases*/genetics
Guanylate Kinases*/metabolism
Membrane Proteins*/metabolism
Adaptor Proteins, Signal Transducing*/metabolism
Humans ; Mice, Knockout ; Animals ; Mice ; Female ; Cells, Cultured ; Mutation ; Protein Domains ; Machine Learning ; Software ; Apoptosis
SCR Disease Name:: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia

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Skocz do pozycji: 17.

Tytuł:: Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders.
Autorzy:: Grandi M; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy.
Galber C; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy.; Institute of Neuroscience, Consiglio Nazionale delle Ricerche, 35121 Padova, Italy.
Gatto C; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy.
Nobile V; Department of Life Sciences and Public Health, Catholic University of Sacred Heart, 00168 Rome, Italy.
Pucci C; Department of Life Sciences and Public Health, Catholic University of Sacred Heart, 00168 Rome, Italy.
Schaldemose Nielsen I; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy.
Boldrin F; Department of Biology, University of Padova, 35121 Padova, Italy.
Neri G; Department of Life Sciences and Public Health, Catholic University of Sacred Heart, 00168 Rome, Italy.
Chiurazzi P; Department of Life Sciences and Public Health, Catholic University of Sacred Heart, 00168 Rome, Italy.; UOC Medical Genetics, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Solaini G; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy.
Baracca A; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy.
Giorgio V; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy.; Institute of Neuroscience, Consiglio Nazionale delle Ricerche, 35121 Padova, Italy.
Tabolacci E; Department of Life Sciences and Public Health, Catholic University of Sacred Heart, 00168 Rome, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Mar 18; Vol. 25 (6). Date of Electronic Publication: 2024 Mar 18.
Typ publikacji:: Journal Article
MeSH Terms:: Fragile X Syndrome*/metabolism
Intellectual Disability*/genetics
Mitochondrial Diseases*/genetics
Humans ; Fragile X Mental Retardation Protein/genetics ; Cell Death/genetics ; Mutation ; Trinucleotide Repeat Expansion

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Skocz do pozycji: 18.

Tytuł:: Sex-specific modulation of early life vocalization and cognition by Fmr1 gene dosage in a mouse model of Fragile X Syndrome.
Autorzy:: Giua G; INMED, INSERM U1249, Marseille, France.; Aix-Marseille University, Marseille, France.
Iezzi D; INMED, INSERM U1249, Marseille, France.; Aix-Marseille University, Marseille, France.
Caceres-Rodriguez A; INMED, INSERM U1249, Marseille, France.; Aix-Marseille University, Marseille, France.
Strauss B; INMED, INSERM U1249, Marseille, France.; Aix-Marseille University, Marseille, France.
Chavis P; INMED, INSERM U1249, Marseille, France.; Aix-Marseille University, Marseille, France.
Manzoni OJ; INMED, INSERM U1249, Marseille, France. .; Aix-Marseille University, Marseille, France. .; INSERM U901, Parc Scientifique de Luminy, Marseille cedex 09, BP13 - 13273, France. .; Pokaż więcej
Źródło:: Biology of sex differences [Biol Sex Differ] 2024 Feb 21; Vol. 15 (1), pp. 18. Date of Electronic Publication: 2024 Feb 21.
Typ publikacji:: Journal Article
MeSH Terms:: Fragile X Syndrome*/genetics
Fragile X Syndrome*/psychology
Animals ; Mice ; Female ; Male ; Vocalization, Animal ; Mice, Knockout ; Fragile X Mental Retardation Protein/genetics ; Cognition ; Gene Dosage ; Disease Models, Animal

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Skocz do pozycji: 19.

Tytuł:: Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome.
Autorzy:: Akahoshi K; Department of Pediatrics, Tokyo Children's Rehabilitation Hospital, 4-10-1 Gakuen, Musashi-Murayama, Tokyo, 208-0011, Japan. .
Nakagawa E; Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, 187-8551, Japan.
Goto YI; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, Tokyo, 187-8502, Japan.; Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, 187-8551, Japan.
Inoue K; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, Tokyo, 187-8502, Japan.; Pokaż więcej
Źródło:: BMC medical genomics [BMC Med Genomics] 2023 Mar 06; Vol. 16 (1), pp. 43. Date of Electronic Publication: 2023 Mar 06.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Intellectual Disability*
Mental Retardation, X-Linked*/genetics
Male ; Humans ; Child ; Adolescent ; Methyl-CpG-Binding Protein 2/genetics ; Cerebellum
SCR Disease Name:: Lubs X-linked mental retardation syndrome

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Skocz do pozycji: 20.

Tytuł:: Case Report: X-Linked Creatine Transporter Deficiency in Two Saudi Brothers with Autism.
Autorzy:: Almatrafi M; Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, P.O. Box 127, Makkah, 21961, Saudi Arabia.
Al-Sabban Z; Department of Radiology, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia.
Balkhy S; General Pediatric Section, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia.
Abumansour IS; Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, P.O. Box 127, Makkah, 21961, Saudi Arabia. .; Pediatric Neurology Section, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, P.O. Box 40047, Jeddah, 21499, Saudi Arabia. .; Pokaż więcej
Źródło:: Journal of autism and developmental disorders [J Autism Dev Disord] 2023 Mar; Vol. 53 (3), pp. 1273-1278. Date of Electronic Publication: 2022 Dec 15.
Typ publikacji:: Case Reports; Letter
MeSH Terms:: Autistic Disorder*
Autism Spectrum Disorder*
Mental Retardation, X-Linked*
Male ; Humans ; Siblings ; Saudi Arabia
SCR Disease Name:: Creatine deficiency, X-linked

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