About: The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome

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About: The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome Goto Sponge NotDistinct Permalink

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scientific article published on 01 May 2001

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rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в травні 2001 (uk) article scientifique publié en 2001 (fr) artículu científicu espublizáu en mayu de 2001 (ast) scientific article published on 01 May 2001 (en)
publication date	wds:Q73895381-EC5E1249-2770-4CA2-A820-ABEBA761EE2C
publication date	2001-05-01 00:00:00Z (xsd:dateTime)
cites work	wds:Q73895381-0707E61E-2102-4DE8-9673-CE6C61C38B40 wds:Q73895381-0DF7FA56-07DC-41FB-98AC-D182E158B9EF wds:Q73895381-12E63D01-9896-4CD4-9313-69647229E60E wds:Q73895381-1F7C317F-69D4-49D0-A4C2-14EC96EC017B wds:Q73895381-22397641-3D85-44BB-9E9E-C8A6F3BCF3B2 wds:Q73895381-354F069F-F5D5-42AD-8D49-3FFEF8D94483 wds:Q73895381-369BC4AC-C1A9-44DD-A425-21F8CFD27155 wds:Q73895381-3D46E02B-9101-451E-BB00-605E1CF0BC6E wds:Q73895381-490DEE4B-D0BE-4620-9F71-82D823B83D30 wds:Q73895381-49708CCA-D594-48CF-8EA3-FC84B94EFB28 wds:Q73895381-4E35FA87-D76C-436B-8405-F187E9A21D42 wds:Q73895381-4FD40A3C-33FC-4694-BFBE-7C59780D6BE1 wds:Q73895381-5A309BF3-FD90-4401-9B3F-D5A556560005 wds:Q73895381-6629ABCE-4376-475E-83DF-A9E62107326E wds:Q73895381-6876FDF9-546C-4BC0-B7CB-146A52360B25 wds:Q73895381-7E56F5B2-402A-40C4-BC5E-4EEA5AB1A1F2 wds:Q73895381-82BE1D20-B802-4F4A-BBA0-8A5AA7C5A38C wds:Q73895381-8D44A54A-A711-4316-9F03-AAF78BD989A1 wds:Q73895381-8EC8F008-D332-48C3-95FD-25C724638324 wds:Q73895381-93E27FE9-27E1-4D3D-B8FE-59018FEA280F wds:Q73895381-A5B301EA-B366-46BB-9D06-8A7A313BECF4 wds:Q73895381-A79463BF-190B-4D07-81C9-24A80D718C4C wds:Q73895381-B2156B3F-C25F-4FB4-80CE-10C38AE14A8A wds:Q73895381-B613FD1A-CF3A-4962-8D53-6CD1F0BCB553 wds:Q73895381-BAA0C3BA-699D-4F4A-8E5A-D71438B81123 wds:Q73895381-C37F35CF-0E53-4EB1-9DAE-7EF104803256 wds:Q73895381-C7752ECE-D3CE-438C-BD2F-F6502C7B1E13 wds:Q73895381-C86E813C-F53E-42F7-A93B-960E7995BD20 wds:Q73895381-D0D2988B-BF65-4681-9B43-06CDB3A7E647 wds:Q73895381-DD91EB68-CE78-4CAE-9EE6-E419BC17853E wds:Q73895381-ED2757E4-F0D5-47C6-ABCF-2C507B4C3257 wds:Q73895381-F25354E2-AE40-494A-95A4-523A6904F201
cites work	Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia Mutations in the human Jagged1 gene are responsible for Alagille syndrome Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1 Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12 Human haploinsufficiency — one for sorrow, two for joy Alagille syndrome and deletion of 20p. Segregation analysis of Alagille syndrome Alagille syndrome with de Novo del(20) (p 11.2) Construction of a 3.7-Mb physical map within human chromosome 20p12 ordering 18 markers in the Alagille syndrome locus. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases Screening of microdeletions of chromosome 20 in patients with Alagille syndrome Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2) Del(20p) with manifestations of arteriohepatic dysplasia Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome) Mapping of microsatellite markers in the Alagille region and screening of microdeletions by genotyping 23 patients TAN-1, the human homolog of the Drosophila Notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms Jagged: a mammalian ligand that activates Notch1 Notch signaling Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome) Liver transplantation for Alagille's syndrome Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1 The human homolog of rat Jagged1 expressed by marrow stroma inhibits differentiation of 32D cells through interaction with Notch1 Notch1 is essential for postimplantation development in mice. Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families Management of paucity of interlobular bile ducts Liver transplantation in children with Alagille syndrome--a study of twelve cases Long-term complications of arteriohepatic dysplasia Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20). Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization Liver transplantation for arteriohepatic dysplasia (Alagille's syndrome) Resistance to the growth-promoting and metabolic effects of growth hormone in children with chronic liver disease
author name string	wds:Q73895381-001E251F-265E-4877-BB1A-540EE912A521 wds:Q73895381-214253AE-0A8E-44A5-945E-6E298B894E5F wds:Q73895381-702FC57B-91F2-4FF4-8E08-C22E39A5274E wds:Q73895381-7EC1ACDB-E609-43DB-BAD5-09BD35C396E0 wds:Q73895381-80572B28-E3FD-4379-A518-83732B0F178E wds:Q73895381-88F32D91-7065-41DD-8C14-32EB11E2D95E wds:Q73895381-8CEC6085-0290-4C1A-B6D5-38945E040F78 wds:Q73895381-9110AE34-6359-4561-861A-4FBE7BDBBC5F wds:Q73895381-9241287E-6167-4993-BF1A-0B1B90FB166D wds:Q73895381-DB73DF77-6A2B-47C4-BA9A-D0232AED79BC wds:Q73895381-F35886B1-F7F4-4E2C-882E-DA3BEB2BD38A
author name string	M Ito T Yoshida N Kobayashi S Okano Y Inomata I Nagata H Kawarazaki Y Tazawa T Kohsaka Z R Yuan M Okaniwa
rdfs:label	The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome (en) The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome (nl)
skos:prefLabel	The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome (en) The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome (nl)
name	The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome (en) The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome (nl)

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