المؤلفون: Winfred C. Wang, Ashley Galvin, Maggie Malsch, Rabi Hanna, Kasiani C. Myers, Edie Weller, Leann Mount, Bonnie W Lau, Kelan Queenan, Robert B. Lorsbach, Taizo A. Nakano, Adrianna Vlachos, Shanshan Liu, Mark D. Fleming, Sarah K. Steltz, Stella M. Davies, Jordan Henry Larson, Sara Loveless, Akiko Shimamura, Elissa Furutani, Sioban Keel, Amy E. Geddis, John M. Gansner, Alison A. Bertuch, Jeffrey M. Lipton

المصدر: Blood Advances

مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, Clinical Trials and Observations, Cohort Studies, Young Adult, Internal medicine, Humans, Medicine, Platelet, Child, Bone Marrow Diseases, Shwachman–Diamond syndrome, business.industry, Bone marrow failure, Infant, Hematology, Middle Aged, SBDS, medicine.disease, Hematologic Diseases, Shwachman-Diamond Syndrome, Leukemia, Child, Preschool, Exocrine Pancreatic Insufficiency, Hemoglobin, business, Cohort study, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e781b5291a00cc8249c1831deb3cc9aTest
https://doi.org/10.1182/bloodadvances.2021005539Test

المؤلفون: Taha I., De Paoli F., Foroni S., Zucca S., Limongelli I., Cipolli M., Danesino C., Ramenghi U., Minelli A.

المساهمون: Taha, I., De Paoli, F., Foroni, S., Zucca, S., Limongelli, I., Cipolli, M., Danesino, C., Ramenghi, U., Minelli, A.

مصطلحات موضوعية: KMT2A, SBDS, Shwachman-Diamond Syndrome, dual molecular diagnosis, eVai, whole-exome sequencing, Biological Variation, Population, Human, Siblings, Bone Marrow Diseases, Exocrine Pancreatic Insufficiency, Histone-Lysine N-Methyltransferase, Myeloid-Lymphoid Leukemia Protein

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35893049; info:eu-repo/semantics/altIdentifier/wos/WOS:000846506100001; volume:13; issue:8; firstpage:1314; lastpage:1325; numberofpages:12; journal:GENES; https://hdl.handle.net/11571/1466951Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85135120602; https://doi.org/10.3390/genes13081314Test

الإتاحة: https://doi.org/10.3390/genes13081314Test
https://hdl.handle.net/11571/1466951Test

المؤلفون: Hubert Hondermarck, Frank Alvaro, Zacary P. Germon, Heather C. Murray, Dominik Beck, Abdul Mannan, Charles E. de Bock, Stephen M. Butler, David A. Skerrett-Byrne, Hayley Flanagan, Matthew D. Dun, Patrick Connerty, Geoff De Iuliis, Jonathan C. Morris, Mengna Chi, Juhura G. Almazi, Hamish D. Toop, Brett Nixon, Ryan J. Duchatel, Sam Faulkner, Janis Chamberlain, Anoop K Enjeti, Callum J Rigby, Richard G. S. Kahl, Jonathan R. Sillar, Nicole M. Verrills

المصدر: Leukemia

مصطلحات موضوعية: Cancer Research, Letter, Myeloid, Apoptosis, Acute myeloid leukaemia, medicine, Humans, Protein Phosphatase 2, Bone Marrow Diseases, Shwachman–Diamond syndrome, business.industry, Proteins, Oncogenes, Hematology, Protein phosphatase 2, SBDS, medicine.disease, Molecular biology, Shwachman-Diamond Syndrome, Leukemia, Myeloid, Acute, Leukemia, medicine.anatomical_structure, Oncology, Proteins metabolism, Myeloid leukaemia, business, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecf25e7996c11ee55b060a0fd5704258Test
https://doi.org/10.1038/s41375-020-0814-0Test

المؤلفون: Ibrahim Taha, Federica De Paoli, Selena Foroni, Susanna Zucca, Ivan Limongelli, Marco Cipolli, Cesare Danesino, Ugo Ramenghi, Antonella Minelli

المصدر: Genes; Volume 13; Issue 8; Pages: 1314

مصطلحات موضوعية: Biological Variation, Population, Shwachman-Diamond Syndrome, SBDS, KMT2A, whole-exome sequencing, dual molecular diagnosis, eVai, Siblings, Genetics, Humans, Exocrine Pancreatic Insufficiency, Histone-Lysine N-Methyltransferase, Bone Marrow Diseases, Myeloid-Lymphoid Leukemia Protein, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98404bf38c30c9a7ce2bfc514fca43baTest
https://doi.org/10.3390/genes13081314Test

المؤلفون: John M. Gansner, James Bowman, Jane E. Churpek, Gwen M. Muscato, Richard H. Ho, Adam J. Lamble, Mark D. Fleming, Robert H. Klein, Alison A. Bertuch, Shanshan Liu, Wendy Stock, Jeffrey M. Lipton, Christian Brendel, Ashley Galvin, James A. Connelly, Nicholas D. Camarda, Christopher J. Gibson, Christopher D. Bahl, Chad E. Harris, Kasiani C. Myers, Sioban Keel, R. Coleman Lindsley, Kelly Walkovich, Maggie Malsch, Bonnie W Lau, Alyssa L. Kennedy, Kaitlyn Ballotti, John R. Edwards, David C. Dale, Akiko Shimamura, Stella M. Davies, Elliot Stieglitz, Scott L. Carter, Paul Castillo, Steffen Boettcher, Taizo A. Nakano, Adrianna Vlachos, Maxim Norkin, Elissa Furutani, Edie Weller, Nobuko Hijiya, Inga Hofmann, James N. Huang

المصدر: Nature communications, vol 12, iss 1
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Nature Communications

مصطلحات موضوعية: Male, 0301 basic medicine, Myeloid, Ribosomopathy, Somatic cell, Clone (cell biology), General Physics and Astronomy, medicine.disease_cause, Germline, 0302 clinical medicine, hemic and lymphatic diseases, Cancer genomics, 2.1 Biological and endogenous factors, Aetiology, Eukaryotic Initiation Factors, Child, Bone Marrow Diseases, Cancer, Genetics, Mutation, Multidisciplinary, Hematology, Middle Aged, Shwachman-Diamond Syndrome, Leukemia, medicine.anatomical_structure, Child, Preschool, 030220 oncology & carcinogenesis, Female, Clonal Hematopoiesis, Medical genomics, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Science, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Young Adult, 03 medical and health sciences, Rare Diseases, Clinical Research, medicine, Humans, Preschool, Prevention, Infant, General Chemistry, SBDS, medicine.disease, 030104 developmental biology, Tumor Suppressor Protein p53, Ribosomes

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac6bc53e8cfbeaac3fa14099826d19daTest
https://doi.org/10.1038/s41467-021-21588-4Test

المؤلفون: Lucia Nacci, Cesare Danesino, Marco Cipolli, Roberto Valli, Elena Nicolis, Jacopo Morini, Gabriele Babini, Emily Pintani, Emanuela Maserati, Claudia Scotti, Antonella Minelli, Andrea Ottolenghi, Simone Cesaro

المصدر: British Journal of Haematology. 185:627-630

مصطلحات موضوعية: 0301 basic medicine, Genetics, Shwachman–Diamond syndrome, business.industry, Single-nucleotide polymorphism, Hematology, SBDS, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, medicine, Bone Marrow Diseases, business, Gene, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cba84ab9cdb57b496ee46c4d057218f5Test
https://doi.org/10.1111/bjh.15594Test

المؤلفون: Michele Saviano, Pietro Delre, Abril Gijsbers, Giuseppe Felice Mangiatordi, Orazio Nicolotti, Nuria Sánchez-Puig, Dritan Siliqi, Domenico Alberga

المساهمون: RS: M4I - Nanoscopy, Institute of Nanoscopy (IoN)

المصدر: Journal of Biomolecular Structure & Dynamics, 38(17), 5219-5229. Adenine Press
Journal of biomolecular structure & dynamics 37 (2019): 5219. doi:10.1080/07391102.2019.1704883
info:cnr-pdr/source/autori:Delre, Pietro; Alberga, Domenico; Gijsbers, Abril; Sanchez-Puig, Nuria; Nicolotti, Orazio; Saviano, Michele; Siliqi, Dritan; Mangiatordi, Giuseppe Felice/titolo:Exploring the role of elongation Factor-Like 1 (EFL1) in Shwachman-Diamond syndrome through molecular dynamics/doi:10.1080%2F07391102.2019.1704883/rivista:Journal of biomolecular structure & dynamics/anno:2019/pagina_da:5219/pagina_a:/intervallo_pagine:5219/volume:37

مصطلحات موضوعية: 030303 biophysics, Mutant, GTPase, Molecular Dynamics Simulation, DIAGNOSIS, Ribosome assembly, 03 medical and health sciences, Peptide Elongation Factor 1, Structural Biology, BINDING, Humans, Lipomatosis, SCATTERING, Molecular Biology, Bone Marrow Diseases, Ribonucleoprotein, U5 Small Nuclear, SBDS, 0303 health sciences, Chemistry, MUTATIONS, Point mutation, Cryoelectron Microscopy, CLINICAL PRESENTATION, Wild type, General Medicine, molecular dynamics simulations, SAXS, point-mutations, Peptide Elongation Factors, Phenotype, Shwachman-Diamond Syndrome, Elongation factor, Biophysics, UPDATE, Exocrine Pancreatic Insufficiency, EFL1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc66942bf61c3d76b6f7b456aa225c90Test
https://cris.maastrichtuniversity.nl/en/publications/c6dd4f37-a731-442c-ae4e-745fa9953dfbTest

المؤلفون: Feng Liu, Huimin Xu, Dan Liu, Yi Liu, Yizhao Cao, Zhou Songyang, Wenbin Ma, Yangxiu Wu, Su Wu, Yong Zhao

المصدر: Cell Reports, Vol 22, Iss 7, Pp 1849-1860 (2018)

مصطلحات موضوعية: 0301 basic medicine, Telomerase, Telomere-Binding Proteins, Mutant, Biology, telomerase, medicine.disease_cause, Aminopeptidases, Shelterin Complex, Article, General Biochemistry, Genetics and Molecular Biology, S Phase, 03 medical and health sciences, Protein Domains, medicine, Humans, Lipomatosis, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Bone Marrow Diseases, SDS, lcsh:QH301-705.5, Gene, Telomere Shortening, S phase, SBDS, TPP1, telomere, Gene knockdown, Mutation, Proteins, Shwachman-Diamond Syndrome, 3. Good health, Cell biology, Telomere, HEK293 Cells, 030104 developmental biology, lcsh:Biology (General), Gene Knockdown Techniques, Exocrine Pancreatic Insufficiency, Serine Proteases, HeLa Cells, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aac87b06da424fe8cd770958043fa7d4Test
https://doi.org/10.1016/j.celrep.2018.01.057Test

المؤلفون: Valentino Bezzerri, Marco Cipolli

المصدر: Molecular diagnosistherapy. 23(2)

مصطلحات موضوعية: 0301 basic medicine, Ribosomopathy, Ribosome biogenesis, Biology, 03 medical and health sciences, 0302 clinical medicine, Eukaryotic initiation factor, Genetics, medicine, Animals, Humans, Lipomatosis, Bone Marrow Diseases, Pharmacology, Shwachman–Diamond syndrome, Bone marrow failure, Myeloid leukemia, General Medicine, SBDS, medicine.disease, Shwachman-Diamond Syndrome, Hematopoiesis, Disease Models, Animal, 030104 developmental biology, EIF6, 030220 oncology & carcinogenesis, Mutation, Cancer research, Molecular Medicine, Exocrine Pancreatic Insufficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f6e82adc012393cc5ab73d124243f43Test
https://pubmed.ncbi.nlm.nih.gov/30413969Test

المؤلفون: Alan J, Warren

المصدر: Advances in Biological Regulation

مصطلحات موضوعية: Ribosome Subunits, Small, Eukaryotic, ITS1, internal transcribed spacer 1, Shwachman-Diamond syndrome, Cryoelectron Microscopy, Myelodysplastic syndromes, Proteins, Ribosome Subunits, Large, Eukaryotic, DNAJC21, Ribosome, Article, rDNA, ribosomal DNA, rRNA, ribosomal RNA, ITS2, internal transcribed spacer 2, Mutation, Humans, Lipomatosis, Exocrine Pancreatic Insufficiency, eIF6, Bone Marrow Diseases, SBDS

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::69a60e82293fcf7a29a76edf1533966eTest
https://pubmed.ncbi.nlm.nih.gov/28942353Test