نتائج البحث - "phosphofurin acidic cluster sorting protein 1"

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دورية أكاديمية

Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder) : Seven Novel Patients and a Review

مصطلحات موضوعية: Schuurs-Hoeijmakers syndrome, Intellectual disability, PACS1, Rare disorders, Phosphofurin acidic cluster sorting protein 1, Pathogenic variant c.607C > T

وصف الملف: application/pdf

العلاقة: Genes; Vol. 12 (may 2021); https://ddd.uab.cat/record/255646Test; urn:10.3390/genes12050738; urn:oai:ddd.uab.cat:255646; urn:pmcid:PMC8153584; urn:pmc-uid:8153584; urn:oai:pubmedcentral.nih.gov:8153584; urn:pmid:34068396

الإتاحة: https://ddd.uab.cat/record/255646Test

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2

دورية أكاديمية

Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

المصدر: Genes; Volume 12; Issue 5; Pages: 738

مصطلحات موضوعية: Schuurs–Hoeijmakers syndrome, intellectual disability, PACS1, rare disorders, phosphofurin acidic cluster sorting protein 1, pathogenic variant c.607C >

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12050738Test

الإتاحة: https://doi.org/10.3390/genes12050738Test

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3

دورية أكاديمية

Novel Roles of PACS-1 Within the Nucleus and the Regulated Secretory Pathway

المؤلفون: Trothen, Steven

المصدر: Electronic Thesis and Dissertation Repository

مصطلحات موضوعية: membrane trafficking, nuclear transport, phosphofurin acidic cluster sorting protein 1, protein-protein interactions, store-operated calcium entry, regulated secretion, Biochemistry, Biology, Cell Biology, Molecular Biology

وصف الملف: application/pdf

العلاقة: https://ir.lib.uwo.ca/etd/9789Test; https://ir.lib.uwo.ca/context/etd/article/12556/viewcontent/auto_convert.pdfTest

الإتاحة: https://ir.lib.uwo.ca/etd/9789Test
https://ir.lib.uwo.ca/context/etd/article/12556/viewcontent/auto_convert.pdfTest

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PACS‐1 contains distinct motifs for nuclear‐cytoplasmic transport and interacts with the RNA‐binding protein PTBP1 in the nucleus and cytosol

المؤلفون: Jimmy D. Dikeakos, Steven M. Trothen, Antony Lurie, Rong Xuan Zang

المصدر: FEBS Letters. 596:232-248

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8d0b8dbf4fac38e76950495bdfbca27Test
https://doi.org/10.1002/1873-3468.14243Test

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Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

المساهمون: UAM. Departamento de Medicina, Institut Català de la Salut, [Tenorio-Castaño J] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. The SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain. Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. [Morte B] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. The SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain. [Nevado J] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. The SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain. Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. Structural and Functional Genomics—INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. [Martinez-Glez V] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. Structural and Functional Genomics—INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. Clinical Genetics—INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. [Santos-Simarro F] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. The SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain. Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. Clinical Genetics—INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. [García-Miñaúr S] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. Clinical Genetics—INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. [Valenzuela I, Tizzano E] Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Genètica de la Medicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Cuscó I] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Genètica de la Medicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Genes, Vol 12, Iss 738, p 738 (2021)
Genes
Volume 12
Issue 5
Biblos-e Archivo. Repositorio Institucional de la UAM
Universitat Autònoma de Barcelona
Dipòsit Digital de Documents de la UAB
Scientia

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, PACS1 Gene, Medicina, Medizin, Intellectual disability, Disease, 030105 genetics & heredity, Pathogenic variant c.607C > T, QH426-470, phosphofurin acidic cluster sorting protein 1, pathogenic variant c.607C >, Trastorns neuroconductuals - Aspectes genètics, Very frequent, 03 medical and health sciences, Neurodevelopmental disorder, Other subheadings::Other subheadings::/genetics [Other subheadings], Genetics, Medicine, Craniofacial, education, rare disorders, PACS1, Genetics (clinical), education.field_of_study, business.industry, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Deficiència mental - Aspectes genètics, trastornos mentales::trastornos del desarrollo neurológico [PSIQUIATRÍA Y PSICOLOGÍA], afecciones patológicas, signos y síntomas::signos y síntomas::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual [ENFERMEDADES], Congenital malformations, Schuurs-Hoeijmakers syndrome, medicine.disease, pathogenic variant c.607C > T, 030104 developmental biology, intellectual disability, Phosphofurin acidic cluster sorting protein 1, Schuurs–Hoeijmakers syndrome, Rare disorders, Phospho-furin acidic cluster sorting protein 1, business, Mental Disorders::Neurodevelopmental Disorders [PSYCHIATRY AND PSYCHOLOGY], Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability [DISEASES], Pathogenic variant c.607C > phosphofurin acidic cluster sorting protein 1

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38bf6a6c2c7cd1876f586026d787166aTest
https://www.mdpi.com/2073-4425/12/5/738Test

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Schuurs-Hoeijmakers Syndrome (

المصدر: Genes

مصطلحات موضوعية: Male, Vesicular Transport Proteins, Syndrome, phosphofurin acidic cluster sorting protein 1, Article, pathogenic variant c.607C > T, Phenotype, PACS1, Neurodevelopmental Disorders, intellectual disability, Mutation, Schuurs–Hoeijmakers syndrome, Humans, Abnormalities, Multiple, Female, rare disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::388c52eacdb431e17081e64cb0bde6d6Test
https://pubmed.ncbi.nlm.nih.gov/34068396Test

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Mutation of PACS1: the milder end of the spectrum

المؤلفون: Mercè Bolasell, Loreto Martorell, María C. Salgado, Delia Yubero, César Arjona, Guerau Fernandez, Joan Maynou, Antonio Martinez-Monseny, Francesc Palau, Judith Arsmtrong, Mercedes Serrano

المصدر: Clinical dysmorphology. 27(4)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4c790302d998002e5a0527c4eb899acTest
https://pubmed.ncbi.nlm.nih.gov/30113927Test

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Par3 and aPKC regulate BACE1 endosome-to-TGN trafficking through PACS1

المؤلفون: Miao Sun, Huaye Zhang

المصدر: Neurobiology of aging. 60

مصطلحات موضوعية: 0301 basic medicine, Aging, Endosome, Endocytic cycle, Vesicular Transport Proteins, Golgi Apparatus, Nerve Tissue Proteins, Endosomes, Biology, Cleavage (embryo), environment and public health, Article, Pathogenesis, 03 medical and health sciences, Amyloid beta-Protein Precursor, Alzheimer Disease, mental disorders, Amyloid precursor protein, Animals, Aspartic Acid Endopeptidases, Humans, Phosphorylation, education, Cells, Cultured, Protein Kinase C, education.field_of_study, General Neuroscience, Brain, Cell biology, Rats, 030104 developmental biology, Phosphofurin acidic cluster sorting protein 1, Axoplasmic transport, biology.protein, Neurology (clinical), Geriatrics and Gerontology, Amyloid Precursor Protein Secretases, Carrier Proteins, Neuroscience, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::577501badec832e5f7e75bd24938bbfcTest
https://pubmed.ncbi.nlm.nih.gov/28946017Test

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SORLA-Dependent and -Independent Functions for PACS1 in Control of Amyloidogenic Processes

المؤلفون: Anne-Sophie Carlo, Tilman Burgert, Thomas E. Willnow, Anders Nykjaer, Annette Füchtbauer, Safak Caglayan, Ernst-Martin Füchtbauer, Vanessa Schmidt, Fuyu Lin

المصدر: Burgert, T, Schmidt, V, Caglayan, S, Lin, F, Füchtbauer, A, Füchtbauer, E-M, Nykjaer, A, Carlo, A-S & Willnow, T E 2013, ' SORLA-Dependent and-Independent Functions for PACS1 in Control of Amyloidogenic Processes ', Molecular and Cellular Biology, vol. 33, no. 21, pp. 4308-4320 . https://doi.org/10.1128/MCB.00628-13Test

مصطلحات موضوعية: Endosome, Molecular Sequence Data, Vesicular Transport Proteins, Mice, Transgenic, Plasma protein binding, medicine.disease_cause, Receptor, IGF Type 2, Cathepsin B, Amyloid beta-Protein Precursor, Mice, Cell Line, Tumor, Protein targeting, Amyloid precursor protein, medicine, Animals, Humans, Protein Interaction Domains and Motifs, Amino Acid Sequence, education, Molecular Biology, LDL-Receptor Related Proteins, Neurons, education.field_of_study, biology, Brain, Membrane Transport Proteins, Articles, Cell Biology, Transport protein, Cell biology, Protein Transport, Biochemistry, Gene Knockdown Techniques, Phosphofurin acidic cluster sorting protein 1, biology.protein, Intracellular, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8d87f68cc420e97750da48e2d1161abTest
https://doi.org/10.1128/mcb.00628-13Test

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Genetic and epigenetic control of metabolic health

المؤلفون: Heike Vogel, Annette Schürmann, Robert W. Schwenk

المصدر: Molecular Metabolism. 2:337-347

مصطلحات موضوعية: Genetics, education.field_of_study, endocrine system diseases, Positional cloning, nutritional and metabolic diseases, Family aggregation, Genome-wide association study, Review, Cell Biology, Heritability, Biology, medicine.disease, Obesity, Phosphofurin acidic cluster sorting protein 1, medicine, education, Molecular Biology, CDKAL1, Genetic association

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df41c8ff8cb8446d7f36d25b5197b73bTest
https://doi.org/10.1016/j.molmet.2013.09.002Test

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