About: Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia

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scientific journal article

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rdf:type	Item
description	articolo scientifico (it) artículu científicu espublizáu en 2007 (ast) vědecký článek publikovaný v roce 2007 (cs) مقالة علمية (نشرت في ديسمبر 2007) (ar) 2007 թվականի դեկտեմբերին հրատարակված գիտական հոդված (hy) 2007 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած (hyw) наукова стаття, опублікована в грудні 2007 (uk) vedecký článok (publikovaný 2007/12/01) (sk) wetenschappelijk artikel (gepubliceerd op 2007/12/01) (nl) scientific journal article (en) im Dezember 2007 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q28118749-86324885-C19A-4A19-BE20-D20342B192AB
publication date	2007-12-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q28118749-7429165C-BA0C-496F-867E-CA96D5A440A6
language of work or name	English
cites work	wds:Q28118749-04BAA29E-599D-4831-92B3-0C20AA9DE4C2 wds:Q28118749-106342CC-A041-4747-A37B-03C022E2DAA7 wds:Q28118749-18A0F280-4EAD-4BCE-B438-C4FBFB0B907C wds:Q28118749-2F101BCD-EEDA-43CB-A351-DDD9560BAB41 wds:Q28118749-4D126BE4-84E1-4D76-8A54-07E79CC90694 wds:Q28118749-80D6F45C-3610-49BA-A05D-C12259E15D0E wds:Q28118749-8DEB768D-6886-445A-A0B1-6A3F475BCC68 wds:Q28118749-A2318181-C664-4A68-AA8F-48A73404A8F4 wds:Q28118749-B4978642-6AC6-4342-AC99-D118156518F5 wds:Q28118749-B6F4E463-63BE-42ED-9171-0D14CE3AE12B wds:Q28118749-B866FA7B-A00F-4FD1-A016-26DF648B5F6A wds:Q28118749-D039655B-EE41-4556-91D4-6C94DBD306C1 wds:Q28118749-D4C5A9B8-0237-4852-B4B5-BB4395DC5868 wds:Q28118749-ECAF8B40-1B34-4104-828F-429DAF5B0C1D wds:Q28118749-EE5F8EE3-4D66-45B4-8433-F47731B587D3 wds:Q28118749-EFF6B587-92D5-4D24-897F-4CCE98DF9DC4 wds:Q28118749-F48F7B05-B774-4CE7-9DD8-1A094E971F05 wds:Q28118749-FAF02045-EA5A-46FC-A4C7-FACE476BC431
cites work	Pfam: a comprehensive database of protein domain families based on seed alignments Hypertriglyceridemia caused by the autoantibody to lipases for plasma lipoproteins: a case report Roles of N-linked glycans in the endoplasmic reticulum Lipoprotein lipase: structure, function, regulation, and role in disease Alternatively spliced lipin isoforms exhibit distinct expression pattern, subcellular localization, and role in adipogenesis. Retroviral elements and their hosts: insertional mutagenesis in the mouse germ line Maturation of hepatic lipase. Formation of functional enzyme in the endoplasmic reticulum is the rate-limiting step in its secretion Maturation of lipoprotein lipase in the endoplasmic reticulum. Concurrent formation of functional dimers and inactive aggregates Combined lipase deficiency (cld/cld) in mice affects differently post-translational processing of lipoprotein lipase, hepatic lipase and pancreatic lipase. Lipoprotein lipase: genetics, lipid uptake, and regulation. Hypertriglyceridemia Hypertriglyceridemia as a cardiovascular risk factor Combined lipase deficiency (cld): a lethal mutation on chromosome 17 of the mouse Murine endogenous retroviruses and their transcriptional potentials DETERMINATION OF HEPARIN-INDUCED LIPOPROTEIN LIPASE ACTIVITY IN HUMAN PLASMA The HIV protease inhibitor saquinavir impairs lipid metabolism and glucose transport in cultured adipocytes The cld mutation: narrowing the critical chromosomal region and selecting candidate genes No evidence for linkage between familial hypertriglyceridemia and apolipoprotein B, apolipoprotein C-III or lipoprotein lipase genes
author name string	wds:Q28118749-291C52A7-1B42-45CB-88E7-331F54CFB5B0 wds:Q28118749-41E22FDF-25A4-482F-A81F-E1A645038890 wds:Q28118749-64D8077A-52D3-4085-A85C-2DCDC98AA453 wds:Q28118749-69530234-2360-487F-8621-09B7B582D5F4 wds:Q28118749-B7E7040A-B3EE-4869-8311-8AA4AF40DB0D wds:Q28118749-C522FD6B-6B6C-4667-8DCF-6CB6DC6B6069 wds:Q28118749-DE68D631-F05B-46F3-9100-AA655B75DA41 wds:Q28118749-E6818964-81EF-4423-845C-903BEC94AE42 wds:Q28118749-FDB58024-24F3-4BA4-969B-93D1471BC178
OpenCitations bibliographic resource ID	wds:Q28118749-97434CFD-EADC-43D2-A9B7-04DF036AB1DD
OpenCitations bibliographic resource ID	https://w3id.org/oc/corpus/br/2126021
author name string	Mark H. Doolittle Miklós Péterfy Osnat Ben-Zeev Clive R. Pullinger John P. Kane Mary J. Malloy Bradley E. Aouizerat Hui Z. Mao Philip H. Frost
OpenCitations bibliographic resource ID	2126021
rdfs:label	Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia (en) Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia (nl) Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia (ast)
skos:prefLabel	Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia (en) Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia (nl) Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia (ast)
name	Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia (en) Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia (nl) Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia (ast)
author	wds:Q28118749-8FF1CB51-A29E-4D57-8BF5-40D579FB46B9 wds:Q28118749-C1908CDE-BE50-4366-9D63-11410B7AE1C5 wds:Q28118749-CA83B471-40FD-43EE-9999-C641112D6FC0
author	Karen Reue Päivi Pajukanta Daphna Weissglas-Volkov
title	wds:Q28118749-60E4B2EC-78AF-4152-9C8B-A8A9C88AC98E
title	Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia (en)
page(s)	wds:Q28118749-2E4C32D9-6F9C-41C4-AF7F-65880E55B36C
page(s)	1483–1487
instance of	wds:Q28118749-75175A9E-7ED8-42C7-A373-EF4BBDCD543A
instance of	scholarly article
main subject	wds:Q28118749-14C2067D-2C91-4533-A0D8-D70D9C47F691 wds:Q28118749-31C599E8-0B16-4DEA-B9A1-F7E72806DD3E wds:Q28118749-4DABF348-913B-45DE-BDFD-EC972EC42900 wds:Q28118749-65C680CF-6BE2-4505-855A-4236B22551D2 wds:Q28118749-945783FD-B0D9-4E94-A110-449C0EF7EFE5
main subject	hypertriglyceridemia

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