نتائج البحث - "Glycostation disorders [IGMD 4]"

1

Deciphering The Glycosylome Of Dystroglycanopathies Using Haploid Screens For Lassa Virus Entry

المؤلفون: Matthijs Raaben, Sean P. J. Whelan, Peter Meinecke, Marja W. Wessels, Dirk Lefeber, Hans van Bokhoven, Ellen van Beusekom, Arno Velds, Thijn R. Brummelkamp, Haluk Topaloglu, Ron M. Kerkhoven, Vincent A. Blomen, Moniek Riemersma, Lucas T. Jae, Jan E. Carette

المساهمون: Çocuk Sağlığı ve Hastalıkları, Clinical Genetics

المصدر: Science; Vol 340
Science, 340, 6131, pp. 479-83
Science, 340, 479-83
Science, 340(6131), 479-483. American Association for the Advancement of Science

مصطلحات موضوعية: Male, Glycosylation, Proteome, Haploidy, medicine.disease_cause, chemistry.chemical_compound, 0302 clinical medicine, Dystroglycans, Lassa fever, Genetics, 0303 health sciences, Mutation, Multidisciplinary, biology, Walker-Warburg Syndrome, Pedigree, 3. Good health, Host-Pathogen Interactions, Science & Technology - Other Topics, Female, lipids (amino acids, peptides, and proteins), musculoskeletal diseases, Glycan, DCN MP - Plasticity and memory, Molecular Sequence Data, Article, Cell Line, 03 medical and health sciences, Lassa Fever, medicine, Humans, Amino Acid Sequence, Pentosyltransferases, Lassa virus, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Gene, DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Infant, Membrane Proteins, Virus Internalization, Glycostation disorders [IGMD 4], medicine.disease, Virology, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], carbohydrates (lipids), Membrane protein, chemistry, biology.protein, 030217 neurology & neurosurgery

وصف الملف: text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fc15f639a77bbb72c6f5a91cdb1e4e3Test
http://hdl.handle.net/11655/13894Test

2

Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation

المؤلفون: Jerry Vockley, Miao He, Eva Morava, Lynne A. Wolfe, K. Michael Gibson

المصدر: American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 160C, 4, pp. 322-8
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 160C, 322-8

وصف الملف: Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2db52f962cdc525b19a28985a9aa835Test
https://lirias.kuleuven.be/handle/123456789/540559Test

3

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

المصدر: PLoS Genetics
PLoS Genetics, Vol 7, Iss 12, p e1002427 (2011)
Plos Genetics, 7, 12, pp. e1002427-e1002427
Plos Genetics, 7, e1002427-e1002427

مصطلحات موضوعية: Male, Cancer Research, Glycosylation, Genetics and epigenetic pathways of disease [NCMLS 6], Cardiomyopathy, Gene Expression, Neuroinformatics [DCN 3], Pediatrics, Sudden cardiac death, Sarcolemma, Autosomal Recessive, Pediatric Cardiology, 570 Biowissenschaften, Biologie, Child, Dystroglycans, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Genetics (clinical), Dolichol Phosphates, Genetics, Homozygote, Dilated cardiomyopathy, Functional imaging [IGMD 1], Disease gene identification, musculoskeletal system, Pedigree, Phosphotransferases (Alcohol Group Acceptor), Child, Preschool, Medicine, Female, lipids (amino acids, peptides, and proteins), ddc:570, Research Article, Cardiomyopathy, Dilated, medicine.medical_specialty, Translational research Renal disorder [ONCOL 3], lcsh:QH426-470, Adolescent, Dolichol Kinase Deficiency, Genes, Recessive, Saccharomyces cerevisiae, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Diagnostic Medicine, Internal medicine, medicine, Dystroglycan, Humans, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Dolichol kinase, Functional Neurogenomics Renal disorder [DCN 2], Clinical Genetics, Haplotype, Glycostation disorders [IGMD 4], medicine.disease, carbohydrates (lipids), lcsh:Genetics, Endocrinology, Haplotypes, Metabolic Disorders, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], biology.protein, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]

وصف الملف: application/pdf; Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::482a4eeefe99123ed044ed580043763aTest
https://epub.uni-regensburg.de/23471Test/

4

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation

المؤلفون: J. van Reeuwijk, L. De Meirleir, J Ranells, G Gillessen Kaesbach, Maciej Adamowicz, Emmanuelle Lemyre, I Salafsky, Jolanta Sykut-Cegielska, Eva Morava, Han G. Brunner, Peter Meinecke, Zsolt Urban, Ron A. Wevers, Dirk J. Lefeber

المساهمون: Pediatrics

المصدر: European Journal of Human Genetics, 16, 1, pp. 28-35
European Journal of Human Genetics, 16, 28-35

مصطلحات موضوعية: Male, Systemic disease, medicine.medical_specialty, Pathology, cutis laxa syndrome, Glycosylation, Energy and redox metabolism [NCMLS 4], Genetics and epigenetic pathways of disease [NCMLS 6], Hearing loss, Central nervous system, Genes, Recessive, Biology, Neuroinformatics [DCN 3], Cutis Laxa, Genomic disorders and inherited multi-system disorders [IGMD 3], Internal medicine, Genetics, medicine, Perception and Action [DCN 1], Humans, Abnormalities, Multiple, isoelectric focusing, Child, Genetics (clinical), Genetic heterogeneity, Infant, Syndrome, Glycostation disorders [IGMD 4], medicine.disease, Phenotype, Neuromuscular development and genetic disorders [UMCN 3.1], Pedigree, Endocrinology, medicine.anatomical_structure, Palpebral fissure, Mitochondrial medicine [IGMD 8], Genetic defects of metabolism [UMCN 5.1], Child, Preschool, Female, glycosylation defect, medicine.symptom, Congenital disorder of glycosylation, Metabolism, Inborn Errors, Cutis laxa, Immunity, infection and tissue repair [NCMLS 1]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f54df43fb286e2c958ad3929c16252d9Test
https://hdl.handle.net/20.500.14017/77a97e3e-58b3-4672-8827-9b29485f396eTest

5

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

المؤلفون: Stefan M. Willems, J.M. van de Kamp, Gert Matthijs, Ben J. H. M. Poorthuis, Dirk J. Lefeber, Ron A. Wevers, N S den Hollander, Sylke J. Steggerda, George J. G. Ruijter

المساهمون: Clinical Genetics, Obstetrics & Gynecology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Guided Treatment in Optimal Selected Cancer Patients (GUTS)

المصدر: Journal of Medical Genetics, 44(4), 277-280. BMJ Publishing Group
Journal of Medical Genetics, 44, 4, pp. 277-80
Journal of medical genetics, 44(4), 277-280. BMJ Publishing Group
JOURNAL OF MEDICAL GENETICS, 44(4), 277-280. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 44, 277-80

مصطلحات موضوعية: Male, Pediatrics, Glycosylation, Hypoalbuminemia/congenital, Neuroinformatics [DCN 3], Pericardial Effusion/congenital, Fatal Outcome, Abnormalities, Multiple/genetics, Perception and Action [DCN 1], Missense mutation, Prenatal, Hypoalbuminemia, Frameshift Mutation, Hydrops Fetalis/diagnostic imaging, Genetics (clinical), Heart Defects, Ultrasonography, Congenital/genetics, Heart Defects, Congenital/genetics, Thrombocytopenia/congenital, medicine.anatomical_structure, Codon, Nonsense, Multiple/genetics, Transferrin/analysis, Chorionic villi, Female, Abnormalities, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Post-Translational/genetics, Energy and redox metabolism [NCMLS 4], Protein Processing, Post-Translational/genetics, Mutation, Missense, Glycoproteins/metabolism, Biology, Ultrasonography, Prenatal, Frameshift mutation, Hydrops fetalis, Insertional, Phosphotransferases (Phosphomutases)/deficiency, Genetics, medicine, Humans, Codon, Protein Processing, Ferritins/blood, Infant, Newborn, Infant, Glycostation disorders [IGMD 4], medicine.disease, Newborn, Neuromuscular development and genetic disorders [UMCN 3.1], Mutagenesis, Insertional, Nonsense, Genetic defects of metabolism [UMCN 5.1], Mutagenesis, Immunology, Mutation, Differential diagnosis, Isoelectric Focusing, Missense, Congenital disorder of glycosylation, Phosphomannomutase, Letter to JMG