المؤلفون: Miles KD; Section of Developmental Biology, Department of Pediatrics, Children's Hospital Colorado, University of Colorado, Anschutz Medical Campus, Aurora, Colorado 80045., Barker CM; Section of Developmental Biology, Department of Pediatrics, Children's Hospital Colorado, University of Colorado, Anschutz Medical Campus, Aurora, Colorado 80045., Russell KP; Section of Developmental Biology, Department of Pediatrics, Children's Hospital Colorado, University of Colorado, Anschutz Medical Campus, Aurora, Colorado 80045., Appel BH; Section of Developmental Biology, Department of Pediatrics, Children's Hospital Colorado, University of Colorado, Anschutz Medical Campus, Aurora, Colorado 80045., Doll CA; Section of Developmental Biology, Department of Pediatrics, Children's Hospital Colorado, University of Colorado, Anschutz Medical Campus, Aurora, Colorado 80045 caleb.doll@cuanschutz.edu.

المصدر: The Journal of neuroscience : the official journal of the Society for Neuroscience [J Neurosci] 2024 Jul 31; Vol. 44 (31). Date of Electronic Publication: 2024 Jul 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Society for Neuroscience Country of Publication: United States NLM ID: 8102140 Publication Model: Electronic Cited Medium: Internet ISSN: 1529-2401 (Electronic) Linking ISSN: 02706474 NLM ISO Abbreviation: J Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Zebrafish* , Fragile X Syndrome*/physiopathology , Fragile X Syndrome*/genetics , Electrical Synapses*/physiology , Zebrafish Proteins*/genetics , Zebrafish Proteins*/metabolism , Motor Neurons*/physiology, Animals ; Disease Models, Animal ; Connexins/genetics ; Connexins/metabolism ; Animals, Genetically Modified ; Hyperkinesis/physiopathology ; Interneurons/physiology ; Interneurons/metabolism ; Gap Junctions/drug effects ; Gap Junctions/metabolism ; Fragile X Mental Retardation Protein/genetics ; Fragile X Mental Retardation Protein/metabolism

المؤلفون: Dionne O; Biochemistry and Functional Genomic Department, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Canada. Electronic address: olivier.dionne@usherbrooke.ca., Abolghasemi A; Biochemistry and Functional Genomic Department, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Canada., Corbin F; Biochemistry and Functional Genomic Department, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Canada., Çaku A; Biochemistry and Functional Genomic Department, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Canada.

المصدر: Psychiatry research [Psychiatry Res] 2024 Jul; Vol. 337, pp. 115962. Date of Electronic Publication: 2024 May 16.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier/North-Holland Biomedical Press Country of Publication: Ireland NLM ID: 7911385 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7123 (Electronic) Linking ISSN: 01651781 NLM ISO Abbreviation: Psychiatry Res Subsets: MEDLINE

مواضيع طبية MeSH: Fragile X Syndrome*/metabolism , Fragile X Syndrome*/physiopathology , Endocannabinoids*/metabolism, Humans ; Animals ; Metabolic Networks and Pathways ; Fragile X Mental Retardation Protein/genetics ; Fragile X Mental Retardation Protein/metabolism

المؤلفون: Nakamura K; Department of Advanced Free Radical Science, Tohoku University Graduate School of Dentistry, 4-1 Seiryo-machi, Aoba-ku, Sendai 980 8575, Japan; Department of Cariology, Institute of Odontology, Sahlgrenska Academy, University of Gothenburg, SE-405 30 Gothenburg, Sweden. Electronic address: keisuke.nakamura.e5@tohoku.ac.jp., Shishido S; Department of Advanced Free Radical Science, Tohoku University Graduate School of Dentistry, 4-1 Seiryo-machi, Aoba-ku, Sendai 980 8575, Japan., Inagaki R; Department of Advanced Free Radical Science, Tohoku University Graduate School of Dentistry, 4-1 Seiryo-machi, Aoba-ku, Sendai 980 8575, Japan., Kanno T; Department of Advanced Free Radical Science, Tohoku University Graduate School of Dentistry, 4-1 Seiryo-machi, Aoba-ku, Sendai 980 8575, Japan., Barkarmo S; Department of Prosthetic Dentistry/Dental Materials Science, Institute of Odontology, Sahlgrenska Academy, University of Gothenburg, SE-405 30 Gothenburg, Sweden., Svanborg P; Department of Prosthetic Dentistry/Dental Materials Science, Institute of Odontology, Sahlgrenska Academy, University of Gothenburg, SE-405 30 Gothenburg, Sweden., Örtengren U; Department of Cariology, Institute of Odontology, Sahlgrenska Academy, University of Gothenburg, SE-405 30 Gothenburg, Sweden; Department of Material Science and Technology, Faculty of Odontology, Malmö University, SE-206 05 Malmö, Sweden.

المصدر: Dental materials : official publication of the Academy of Dental Materials [Dent Mater] 2024 Sep; Vol. 40 (9), pp. 1425-1451. Date of Electronic Publication: 2024 Jun 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Country of Publication: England NLM ID: 8508040 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0097 (Electronic) Linking ISSN: 01095641 NLM ISO Abbreviation: Dent Mater Subsets: MEDLINE

مواضيع طبية MeSH: Zirconium*/chemistry , Yttrium*/chemistry , X-Ray Diffraction* , Ceramics*/chemistry , Materials Testing*, Surface Properties ; Spectrometry, X-Ray Emission ; Crystallography ; Dental Materials/chemistry

المؤلفون: Buenaventura T; MRC LMS, Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, UK., Bagci H; MRC LMS, Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, UK., Patrascan I; MRC LMS, Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, UK., Graham JJ; Leicester Institute of Structural and Chemical Biology, Department of Molecular and Cell Biology, University of Leicester, Leicester, UK., Hipwell KD; Leicester Institute of Structural and Chemical Biology, Department of Molecular and Cell Biology, University of Leicester, Leicester, UK., Oldenkamp R; Division of Cell Biology, Netherlands Cancer Institute, Amsterdam, The Netherlands., King JWD; MRC LMS, Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, UK., Urtasun J; MRC LMS, Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, UK., Young G; MRC LMS, Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, UK., Mouzo D; Translational Bioinformatics Unit, Navarrabiomed, Universidad Pública de Navarra (UPNA), Instituto de Investigación Sanitaria de Navarra (IdiSNA), Pamplona, Spain., Gomez-Cabrero D; Translational Bioinformatics Unit, Navarrabiomed, Universidad Pública de Navarra (UPNA), Instituto de Investigación Sanitaria de Navarra (IdiSNA), Pamplona, Spain.; Bioscience Program, Biological and Environmental Sciences and Engineering Division (BESE), King Abdullah University of Science and Technology KAUST, Thuwal, Saudi Arabia., Rowland BD; Division of Cell Biology, Netherlands Cancer Institute, Amsterdam, The Netherlands., Panne D; Leicester Institute of Structural and Chemical Biology, Department of Molecular and Cell Biology, University of Leicester, Leicester, UK., Fisher AG; MRC LMS, Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, UK.; Department of Biochemistry, University of Oxford, Oxford, UK., Merkenschlager M; MRC LMS, Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, UK. matthias.merkenschlager@lms.mrc.ac.uk.

المصدر: Nature genetics [Nat Genet] 2024 Aug; Vol. 56 (8), pp. 1678-1688. Date of Electronic Publication: 2024 Jul 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Variation* , X Chromosome Inactivation*/genetics , Chromosomes, Human, X*/genetics , Genes, X-Linked*, Humans ; Animals ; Mice ; Female ; Cell Cycle Proteins/genetics ; Antigens, Nuclear/genetics ; Lymphocytes/metabolism ; X Chromosome/genetics ; Cohesins

المؤلفون: Verpeut JL; Department of Psychology, Arizona State University, Tempe, United States.

المصدر: ELife [Elife] 2024 Jul 16; Vol. 13. Date of Electronic Publication: 2024 Jul 16.

نوع المنشور: Journal Article; Editorial

بيانات الدورية: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

مواضيع طبية MeSH: Fragile X Syndrome*/physiopathology , Cerebellum*/physiology , Disease Models, Animal* , Learning*, Animals ; Mice ; Fragile X Mental Retardation Protein/genetics ; Fragile X Mental Retardation Protein/metabolism

المؤلفون: Le Poulennec T; Departement of Endocrinology and Reproductive Medicine, centre de référence des maladies endocriniennes rares de la croissance et du développement, centre de référence des pathologies gynécologiques rares, IE3M, hôpital Pitié-Salpêtrière, AP-HP, Paris, France; Sorbonne université médecine, Paris, France; Hôpital Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75013 Paris, France. Electronic address: tiphaine.lepoulennec@aphp.fr., Dubreuil S; Departement of Endocrinology and Reproductive Medicine, centre de référence des maladies endocriniennes rares de la croissance et du développement, centre de référence des pathologies gynécologiques rares, IE3M, hôpital Pitié-Salpêtrière, AP-HP, Paris, France; Sorbonne université médecine, Paris, France; Hôpital Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75013 Paris, France., Grynberg M; Departement of Reproductive Medicine Clamart, hôpital Béclère, AP-HP, France; Hôpital Béclère, 157, rue de la Porte-de-Trivaux, 92140 Clamart, France., Chabbert-Buffet N; Departement of Obstetrics Gynecology and Reproductive Medicine, hôpital Tenon, AP-HP, Sorbonne université médecine, Paris, France; Hôpital Tenon, 4, rue de la Chine, 75020 Paris, France., Sermondade N; Hôpital Tenon, 4, rue de la Chine, 75020 Paris, France; Departement of Reproductive Biology, hôpital Tenon, AP-HP, Sorbonne université médecine, Paris, France., Fourati S; Sorbonne université médecine, Paris, France; Hôpital Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75013 Paris, France; Departement of Endocrine Biochemistry and oncology, hôpital Pitié-Salpêtrière-Charles-Foix, AP-HP, Paris, France., Siffroi JP; Genetics Departement, Inserm UMR_S_933, hôpital Armand-Trousseau, AP-HP, Paris, France; Hôpital Armand-Trousseau, 26, avenue du Dr Arnold-Netter, 75012 Paris, France., Héron D; Genetics Department, hôpital Pitié-Salpêtrière, AP-HP, Paris, France; Hôpital Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75013 Paris, France., Bachelot A; Departement of Endocrinology and Reproductive Medicine, centre de référence des maladies endocriniennes rares de la croissance et du développement, centre de référence des pathologies gynécologiques rares, IE3M, hôpital Pitié-Salpêtrière, AP-HP, Paris, France; Sorbonne université médecine, Paris, France; Hôpital Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75013 Paris, France.

المصدر: Annales d'endocrinologie [Ann Endocrinol (Paris)] 2024 Jul; Vol. 85 (4), pp. 269-275. Date of Electronic Publication: 2024 May 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: France NLM ID: 0116744 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2213-3941 (Electronic) Linking ISSN: 00034266 NLM ISO Abbreviation: Ann Endocrinol (Paris) Subsets: MEDLINE

مواضيع طبية MeSH: Fragile X Mental Retardation Protein*/genetics , Ovarian Reserve*/physiology , Ovarian Reserve*/genetics , Primary Ovarian Insufficiency*/genetics , Fertility Preservation*/methods, Humans ; Female ; Adult ; Retrospective Studies ; Pregnancy ; Mutation ; Fragile X Syndrome/genetics ; Fragile X Syndrome/epidemiology ; Infertility, Female/genetics ; Infertility, Female/etiology ; Infertility, Female/therapy ; Cohort Studies ; Anti-Mullerian Hormone/blood

المؤلفون: Tomofuji Y; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan; Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives, Osaka University, Suita 565-0871, Japan; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan; Department of Genome Informatics, Graduate School of Medicine, the University of Tokyo, Tokyo 113-8654, Japan. Electronic address: ytomofuji@sg.med.osaka-u.ac.jp., Edahiro R; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan; Department of Respiratory Medicine and Clinical Immunology, Osaka University Graduate School of Medicine, Suita 565-0871, Japan., Sonehara K; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan; Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives, Osaka University, Suita 565-0871, Japan; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan; Department of Genome Informatics, Graduate School of Medicine, the University of Tokyo, Tokyo 113-8654, Japan., Shirai Y; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan; Department of Respiratory Medicine and Clinical Immunology, Osaka University Graduate School of Medicine, Suita 565-0871, Japan., Kock KH; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A∗STAR), Singapore 138672, Republic of Singapore., Wang QS; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan; Department of Genome Informatics, Graduate School of Medicine, the University of Tokyo, Tokyo 113-8654, Japan., Namba S; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan; Department of Genome Informatics, Graduate School of Medicine, the University of Tokyo, Tokyo 113-8654, Japan., Moody J; Laboratory for Genome Information Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan., Ando Y; RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan., Suzuki A; Laboratory for Autoimmune Diseases, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan., Yata T; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan; Department of Neurology, Osaka University Graduate School of Medicine, Suita 565-0871, Japan., Ogawa K; Department of Neurology, Osaka University Graduate School of Medicine, Suita 565-0871, Japan., Naito T; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan., Namkoong H; Department of Infectious Diseases, Keio University School of Medicine, Shinanomachi 160-8582, Japan., Xuan Lin QX; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A∗STAR), Singapore 138672, Republic of Singapore., Buyamin EV; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A∗STAR), Singapore 138672, Republic of Singapore., Tan LM; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A∗STAR), Singapore 138672, Republic of Singapore., Sonthalia R; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A∗STAR), Singapore 138672, Republic of Singapore., Han KY; Samsung Genome Institute, Samsung Medical Center, Seoul 06351, Korea., Tanaka H; Division of Pulmonary Medicine, Department of Medicine, Keio University School of Medicine, Shinanomachi 160-8582, Japan., Lee H; Division of Pulmonary Medicine, Department of Medicine, Keio University School of Medicine, Shinanomachi 160-8582, Japan., Okuno T; Department of Neurology, Osaka University Graduate School of Medicine, Suita 565-0871, Japan., Liu B; Department of Pharmacy, National University of Singapore, Singapore 117549, Republic of Singapore., Matsuda K; Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Shirokanedai 108-8639, Japan., Fukunaga K; Division of Pulmonary Medicine, Department of Medicine, Keio University School of Medicine, Shinanomachi 160-8582, Japan., Mochizuki H; Department of Neurology, Osaka University Graduate School of Medicine, Suita 565-0871, Japan., Park WY; Samsung Genome Institute, Samsung Medical Center, Seoul 06351, Korea., Yamamoto K; Laboratory for Autoimmune Diseases, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan., Hon CC; Laboratory for Genome Information Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan., Shin JW; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A∗STAR), Singapore 138672, Republic of Singapore; Laboratory for Advanced Genomics Circuit, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan., Prabhakar S; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A∗STAR), Singapore 138672, Republic of Singapore; Lee Kong Chian School of Medicine, Singapore 308232, Republic of Singapore; Cancer Science Institute of Singapore, Singapore 117599, Republic of Singapore., Kumanogoh A; Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives, Osaka University, Suita 565-0871, Japan; Department of Respiratory Medicine and Clinical Immunology, Osaka University Graduate School of Medicine, Suita 565-0871, Japan; Department of Immunopathology, Immunology Frontier Research Center, Osaka University, Suita 565-0871, Japan., Okada Y; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan; Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives, Osaka University, Suita 565-0871, Japan; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan; Department of Genome Informatics, Graduate School of Medicine, the University of Tokyo, Tokyo 113-8654, Japan; Laboratory of Statistical Immunology, Immunology Frontier Research Center (WPI-IFReC), Osaka University, Suita 565-0871, Japan; Premium Research Institute for Human Metaverse Medicine (WPI-PRIMe), Osaka University, Suita 565-0871, Japan. Electronic address: yuki-okada@m.u-tokyo.ac.jp.

مؤلفون مشاركون: Asian Immune Diversity Atlas Network, Japan COVID-19 Task Force, The BioBank Japan Project

المصدر: Cell genomics [Cell Genom] 2024 Aug 14; Vol. 4 (8), pp. 100625. Date of Electronic Publication: 2024 Jul 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 9918284260106676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-979X (Electronic) Linking ISSN: 2666979X NLM ISO Abbreviation: Cell Genom Subsets: MEDLINE

مواضيع طبية MeSH: X Chromosome Inactivation*/genetics , Single-Cell Analysis*/methods, Humans ; Female ; Lymphocytes/metabolism ; Male ; Genome-Wide Association Study ; Animals ; Myeloid Cells/metabolism ; Mice ; Sequence Analysis, RNA/methods ; Organ Specificity ; Genes, X-Linked/genetics

المؤلفون: Demirci I; Department of Cell and Molecular Biology, Karolinska Institutet, Stockholm, Sweden., Larsson AJM; Department of Cell and Molecular Biology, Karolinska Institutet, Stockholm, Sweden., Chen X; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden., Hartman J; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden., Sandberg R; Department of Cell and Molecular Biology, Karolinska Institutet, Stockholm, Sweden. rickard.sandberg@ki.se., Frisén J; Department of Cell and Molecular Biology, Karolinska Institutet, Stockholm, Sweden. jonas.frisen@ki.se.

المصدر: Genome biology [Genome Biol] 2024 Aug 09; Vol. 25 (1), pp. 214. Date of Electronic Publication: 2024 Aug 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE

مواضيع طبية MeSH: X Chromosome Inactivation* , Mutation* , Single-Cell Analysis*, Humans ; Female ; Leukocytes, Mononuclear/metabolism ; Chromosomes, Human, X/genetics ; Clone Cells ; T-Lymphocytes/metabolism ; Male ; DNA, Mitochondrial/genetics

المؤلفون: Luque MA; Departamento Fisiología, Facultad de Biología, Universidad de Sevilla, Sevilla, Spain., Morcuende S; Departamento Fisiología, Facultad de Biología, Universidad de Sevilla, Sevilla, Spain., Torres B; Departamento Fisiología, Facultad de Biología, Universidad de Sevilla, Sevilla, Spain., Herrero L; Departamento Fisiología, Facultad de Biología, Universidad de Sevilla, Sevilla, Spain.

المصدر: The Journal of physiology [J Physiol] 2024 Aug; Vol. 602 (15), pp. 3769-3791. Date of Electronic Publication: 2024 Jul 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cambridge Univ. Press Country of Publication: England NLM ID: 0266262 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-7793 (Electronic) Linking ISSN: 00223751 NLM ISO Abbreviation: J Physiol Subsets: MEDLINE

مواضيع طبية MeSH: Action Potentials* , CA1 Region, Hippocampal*/physiopathology , CA1 Region, Hippocampal*/metabolism , Fragile X Mental Retardation Protein*/genetics , Phenylenediamines*/pharmacology , Pyramidal Cells*/physiology , Pyramidal Cells*/metabolism , Pyramidal Cells*/drug effects, Animals ; Male ; Mice ; Anthracenes/pharmacology ; Carbamates/pharmacology ; Fragile X Syndrome/physiopathology ; Fragile X Syndrome/genetics ; KCNQ2 Potassium Channel/genetics ; KCNQ2 Potassium Channel/metabolism ; KCNQ3 Potassium Channel/genetics ; KCNQ3 Potassium Channel/metabolism ; Mice, Inbred C57BL ; Mice, Knockout ; Nerve Tissue Proteins

المؤلفون: Khan S; Sheffield Teaching Hospitals NHS Trust, Sheffield, UK., Williams S; Leeds Teaching Hospitals NHS Trust, Leeds, UK., Cosgrove J; Leeds Teaching Hospitals NHS Trust, Leeds, UK., Bamford J; Leeds Teaching Hospitals NHS Trust, Leeds, UK., Alty J; Leeds Teaching Hospitals NHS Trust, Leeds, UK.; College of Health and Medicine, University of Tasmania, Hobart, Australia.

المصدر: Movement disorders clinical practice [Mov Disord Clin Pract] 2024 Aug; Vol. 11 (8), pp. 1038-1040. Date of Electronic Publication: 2024 May 30.

نوع المنشور: Case Reports; Journal Article; Letter

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: MEDLINE

مواضيع طبية MeSH: Ataxia*/genetics , Fragile X Syndrome*/genetics , Fragile X Syndrome*/complications , Fragile X Syndrome*/physiopathology , Phenotype* , Tremor*/genetics , Tremor*/physiopathology, Female ; Humans ; Dysphonia/etiology ; Fragile X Mental Retardation Protein/genetics ; Aged ; Aged, 80 and over

SCR Disease Name: Fragile X Tremor Ataxia Syndrome