Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality - Wikidata - awgldk - TriplyDB

Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality

Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality

http://www.wikidata.org/entity/Q28590641

about

The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA SBDS expression and localization at the mitotic spindle in human myeloid progenitors Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome Mutations in the SBDS gene in acquired aplastic anemia Ribosomopathies: Global process, tissue specific defects Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses.Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease.The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis.Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome When ribosomes go bad: diseases of ribosome biogenesis.The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders.Marrow failure: a window into ribosome biology Ribosomal proteins: functions beyond the ribosome Animal models of Diamond Blackfan anemia.Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach.In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency.Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes.Ribosomal biogenesis genes play an essential and p53-independent role in zebrafish pancreas development.Impaired ribosomal subunit association in Shwachman-Diamond syndrome.Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome.Crosstalk between c-Myc and ribosome in ribosomal biogenesis and cancer Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome.Pathophysiology and management of inherited bone marrow failure syndromes.Shwachman-Diamond syndrome: implications for understanding the molecular basis of leukaemia.Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.Concise Review: Getting to the Core of Inherited Bone Marrow Failures.Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome.Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS.Of blood, bones, and ribosomes: is Swachman-Diamond syndrome a ribosomopathy?Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction.A novel mouse model provides insights into the neutropenia associated with the ribosomopathy Shwachman-Diamond syndrome.Mislocalization or low expression of mutated Shwachman-Bodian-Diamond syndrome protein.A zebrafish model for the Shwachman-Diamond syndrome (SDS).How Ribosomes Translate Cancer.Mutation Screening of Elongation Factor 2 in Shwachman-Diamond Syndrome Patients Lacking Mutations in the SBDS Gene

P2860

61f4a0f4bf91dfb637693ffd491c12d99c58ccba

P248

Q24304508-4A1FF5EC-D1AD-4210-A7CB-7923A515F270 Q24316999-6780897C-FB8C-4BFD-A238-925D73111DB6 Q24321611-9B90E869-92F2-451F-AA3A-D4DC5CCDB371 Q24682080-29176BB5-15A4-470E-9984-8645D632CF34 Q26781112-D9F3CC95-6951-449B-8BD8-4E649D309AED Q33482089-E412E0E3-392A-4BA3-B6B7-D02FB910090B Q33609691-961A6D6C-9B0B-47E0-91F9-5FCB520E591E Q33630706-3F02040D-0C6A-4CB3-B160-4A267F442D18 Q34058333-382A166E-29D1-40D0-BFAC-456DC6218B17 Q34173140-E5E94C08-97FA-44DC-B7AB-1ECDFDC70732 Q34248659-619A42DE-7B96-4769-849B-3B34569DF752 Q34358020-7B7C606F-2E1B-40C4-BBFB-15CA48C2003C Q34431422-904CA158-BBCB-446D-B832-C077657EEE3A Q34465473-99457BE0-CFE6-4F64-B5B4-CFC24D977C9A Q35017968-2EB596F8-133A-4F43-B064-EB8DBBFA9C56 Q35222178-7B4647EF-807A-4B0D-B5A9-7F8361A83CD3 Q35658181-DECA4188-2C74-42B0-AC05-4FC4566FD842 Q36007604-C561F917-9053-410D-A7F1-878286BED4EB Q36115659-40576533-A5F6-4788-B067-B0533777AB15 Q36144962-A8B46F5C-E977-450C-B70E-B606CD5F4EF5 Q36509633-C2CE4869-2B14-4B90-8B67-C4AE3D6F9051 Q36870797-11155745-3003-427E-A93D-FCFBB1A8AF5A Q36942685-4471DF41-5298-4D58-B05F-8D620A73BA2A Q37055288-696BE1B6-1D00-48CE-AD06-73CC84C5895B Q37070448-12E45338-2D41-42D2-8489-22BD2B3A5721 Q37356551-B8C1EFAA-EB80-4984-9870-FA33C76DA848 Q37425409-9A1761ED-F068-4752-A48A-97F0B8E83DFC Q37633372-34FE44DA-57F7-4F9F-B136-A970135A1A51 Q38804023-34F8B2C2-1176-4DBE-A30E-79CA9AAA2BC7 Q39097198-B4357F4F-7B13-4222-9AB6-96F343A65B0C Q39274444-15E9D0C3-06B4-4900-82CA-1AEABC802601 Q41848986-A64FBE20-DBBB-4038-9C38-01C62CF60FFE Q42573970-EBAE6F17-E91E-4019-9DC0-CF062A68DCFB Q43234238-B951328E-0778-4F76-8B6C-AAE44514FD0F Q44816450-0D591754-A6D3-4D02-89E8-4F5A73164219 Q45772334-F57EFF83-56BB-4E3C-B438-2AFAA71F8D03 Q47782255-64EF24D1-2514-496E-AA64-6041D3B3F32E Q59001404-04478E50-3188-4807-968C-D2593D27193C

P2860

Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality

http://www.wikidata.org/entity/Q28590641

description

2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2006 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

artículu científicu espublizáu en 2006

@ast

im September 2006 veröffentlichter wissenschaftlicher Artikel

@de

scientific journal article

@en

vedecký článok (publikovaný 2006/09/01)

@sk

vědecký článek publikovaný v roce 2006

@cs

wetenschappelijk artikel (gepubliceerd op 2006/09/01)

@nl

наукова стаття, опублікована у вересні 2006

@uk

مقالة علمية (نشرت في سبتمبر 2006)

@ar

name

Loss of the mouse ortholog of ...... s in early embryonic lethality

@ast

Loss of the mouse ortholog of ...... s in early embryonic lethality

@en

Loss of the mouse ortholog of ...... s in early embryonic lethality

@nl

type

label

Loss of the mouse ortholog of ...... s in early embryonic lethality

@ast

Loss of the mouse ortholog of ...... s in early embryonic lethality

@en

Loss of the mouse ortholog of ...... s in early embryonic lethality

@nl

prefLabel

Loss of the mouse ortholog of ...... s in early embryonic lethality

@ast

Loss of the mouse ortholog of ...... s in early embryonic lethality

@en

Loss of the mouse ortholog of ...... s in early embryonic lethality

@nl

P1433

Q28590641-601082A3-7695-44AE-A25D-43AC252993FC

P1476

Q28590641-ED0EDFB5-6CA5-4A85-A91D-8A4431E2FEEE

P2093

Q28590641-54B324D8-6A67-45FF-83DC-D406997F8C2F

Q28590641-7132DC68-71FD-411F-A353-4C73CAE64A17

Q28590641-921C7D78-3C68-4E07-9ED2-BEFFD7B088BE

Q28590641-F7DB7906-5A88-4BCB-8EBB-C0835AC4A3F8

P2860

Q28590641-0CE3C579-BD74-4655-A18F-2805B1FBA2D7

Q28590641-0D7909DA-2017-4E01-BFF3-C3DE380A7FF3

Q28590641-0F65FAAA-002F-4F08-8885-A160E865024A

Q28590641-166ACE54-E52A-4CE8-B292-EE353C8A1372

Q28590641-1AD9CAE9-D1F6-44F4-B89F-3CD20EB25368

Q28590641-211C1EBE-F130-40FB-AAC0-93A9A83D7798

Q28590641-3263ABF6-7F50-4D84-B73C-1C702DB0232A

Q28590641-35F233A3-041F-4FCB-B766-63EFFDF84DF2

Q28590641-450F229C-81D4-4200-98D4-BDD7CD594D38

Q28590641-4ECEE2E0-0BB9-495D-B6C3-E80F4B75F072

P304

Q28590641-CCAC589E-F23E-48CE-9A47-7115595D2F11

P31

Q28590641-942FAEDC-4841-4C87-9897-D3EAA0DE94EF

P3181

Q28590641-9D58E07A-1399-400B-B1FD-0EBC1253D6AB

P356

Q28590641-2D0FC839-B707-4B1C-BFCF-D23B74CFD2AD

P407

Q28590641-7CCEC856-23F1-435B-BF24-6E096EC25A3D

P433

Q28590641-9101698C-E3C2-4655-835E-8AC2408DC9A6

P478

Q28590641-920A1AD1-3F8A-40F0-9154-6EF52F9AF2A9

P577

Q28590641-46147DE6-B78B-4564-83A4-98BA4D94FBF4

P698

Q28590641-BE1BA210-E3DC-43BF-B208-9AC52214C1EB

P921

Q28590641-B5A47C8D-CC48-47EA-8E36-A2C673EF50FB

P932

Q28590641-05AA7D9D-577D-4FEE-93B4-C5D84A2651F0

P3181

P356

P1433

Molecular and Cellular Biology

P1476

Loss of the mouse ortholog of ...... s in early embryonic lethality

@en

P2093

Chi-Chung Hui

http://www.w3.org/2001/XMLSchema#string

Johanna M. Rommens

http://www.w3.org/2001/XMLSchema#string

Mingjun Shi

http://www.w3.org/2001/XMLSchema#string

Siyi Zhang

http://www.w3.org/2001/XMLSchema#string

P2860

Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita

The Shwachman-Diamond SBDS protein localizes to the nucleolus

The chemotaxis defect of Shwachman-Diamond Syndrome leukocytes

Prediction of the archaeal exosome and its connections with the proteasome and the translation and transcription machineries by a comparative-genomic approach

The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism.

Large-scale prediction of Saccharomyces cerevisiae gene function using overlapping transcriptional clusters.

A panoramic view of yeast noncoding RNA processing.

Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus

Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development

Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar.

P304

6656–6663

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P3181

1843225

http://www.w3.org/2001/XMLSchema#string

P356

10.1128/MCB.00091-06

http://www.w3.org/2001/XMLSchema#string

P407

P433

17

http://www.w3.org/2001/XMLSchema#string

P478

26

http://www.w3.org/2001/XMLSchema#string

P577

2006-09-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

16914746

http://www.w3.org/2001/XMLSchema#string

P921

SBDS ribosome maturation factor

P932

1592835

http://www.w3.org/2001/XMLSchema#string