Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans
about
Rab18 and a Rab18 GEF complex are required for normal ER structure.RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagyGenes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1).A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeletonAlkylglycerone phosphate synthase (AGPS) deficient mice: models for rhizomelic chondrodysplasia punctate type 3 (RCDP3) malformation syndrome.Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in miceThe role of the small GTPase Rab31 in cancer.Screening of potential target genes for cataract by analyzing mRNA expression profile of mouse Hsf4-null lens.Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.The endocytic recycling regulatory protein EHD1 Is required for ocular lens developmentRAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex.Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.A Homozygous RAB3GAP1:c.743delC Mutation in Rottweilers with Neuronal Vacuolation and Spinocerebellar Degeneration.The Acrosomal Matrix.Genetic disorders associated with postnatal microcephaly.COPI-TRAPPII activates Rab18 and regulates its lipid droplet association.Small molecules, both dietary and endogenous, influence the onset of lens cataracts.Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome.Rab proteins as regulators of lipid droplet formation and lipolysis.Molecular control of Rab activity by GEFs, GAPs and GDI.Consanguinity as an Adjunct Diagnostic Tool.TBC1D20 mediates autophagy as a key regulator of autophagosome maturation.Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome.Rab18 promotes lipid droplet (LD) growth by tethering the ER to LDs through SNARE and NRZ interactions.Autophagy in turnover of lipid stores: trans-kingdom comparison.Novel RAB3GAP1 Mutations Causing Warburg Micro Syndrome in Two Italian Sisters.Whole-genome scan reveals significant non-additive effects for sire conception rate in Holstein cattle.Hepatic Lipophagy: New Insights into Autophagic Catabolism of Lipid Droplets in the Liver.Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome.
P2860
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
P248
Q24298701-3760F213-29C6-4F84-AF91-294C8E650AFEQ24309113-303BC8F8-48CC-46C2-B8BD-C5CE468E09A2Q27322815-7B31EE91-2279-4F09-98B1-791D32513BE4Q27347670-C26CF73F-5467-4FD8-B589-FA5D8FDEB6DDQ33677248-4E0F429F-FA16-4C4B-9F4F-88A5424FCF79Q34117389-1E0A0B17-024C-4FBA-A7B5-37FA5783136DQ34474699-74792C15-F748-473B-AD90-69B8E5415D73Q34700522-A9B68FA8-36A2-4D88-9556-4A0962363980Q34885255-D86E3976-A285-490C-92E6-C91F20EA478EQ35695398-82B50F58-BF11-4F6C-9D4F-0F193C0D34D3Q36246988-85210E60-FA4A-481A-A165-85F328C3107CQ36396065-F2F725D5-AC5B-4D0B-AE93-09FD7BA3FA4FQ36583899-420CDE83-48A8-46B9-90D9-FC98052C770DQ36802211-E0F1903A-8E26-41ED-841D-0A99FA6F69E6Q37020193-2ED9D453-A86E-4D88-8F30-EE9C48DE053CQ37418556-F6525F95-8E0B-4AD8-9351-6926E225EE36Q38212652-F13A4D7D-7605-47FA-8A2B-4714FB96ED30Q38724924-229A0D70-94F7-4E1F-A980-C65CF85F4327Q38796772-12504F54-03DC-494D-99A0-D0901E21E1C7Q38894893-F7210E59-6EE3-41E2-9425-4B5117B1E492Q38907192-7ABEFEDD-3126-46E5-9379-5F6E57EB9741Q39068332-EEF9E3C9-D694-4EDC-A4BB-BB0CDCD6AF3FQ40772677-55DD05FA-955A-4D0F-BE59-C726ADA2305BQ41575670-721B37F7-8767-457A-B1FE-97D86B7BB8BDQ41928692-07B8BD27-5729-44C6-ACDC-8431DB224052Q42752422-E121EA00-A1B6-4E98-BD13-2DD3750F94DEQ48172407-F7AB5BF5-6553-4707-AC9A-094C6ABA2FB4Q50138613-0D3E6CE3-8A45-4DE3-87D4-BCCB3F313FE3Q52576058-B5DB2217-BF80-4B96-9F12-DE2F7FF906C6Q52682740-81E03402-544C-4EEF-8FF9-7439588B4586Q52808488-AC00EA04-172F-43A6-A15A-B66B6BBB43BAQ53089645-DB5A18DB-DC0B-4792-A5B3-34477F5E7EDCQ53534814-8AEB05F9-A359-4E95-887C-D5FF77E850F3
P2860
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans
description
2013 nî lūn-bûn
@nan
2013 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Loss-of-function mutations in ...... rburg micro syndrome in humans
@ast
Loss-of-function mutations in ...... rburg micro syndrome in humans
@en
Loss-of-function mutations in ...... rburg micro syndrome in humans
@en-gb
Loss-of-function mutations in ...... rburg micro syndrome in humans
@nl
type
label
Loss-of-function mutations in ...... rburg micro syndrome in humans
@ast
Loss-of-function mutations in ...... rburg micro syndrome in humans
@en
Loss-of-function mutations in ...... rburg micro syndrome in humans
@en-gb
Loss-of-function mutations in ...... rburg micro syndrome in humans
@nl
prefLabel
Loss-of-function mutations in ...... rburg micro syndrome in humans
@ast
Loss-of-function mutations in ...... rburg micro syndrome in humans
@en
Loss-of-function mutations in ...... rburg micro syndrome in humans
@en-gb
Loss-of-function mutations in ...... rburg micro syndrome in humans
@nl
P2093
P2860
P50
P921
P1476
Loss-of-function mutations in ...... rburg micro syndrome in humans
@en
P2093
Adam Ronchetti
Allison D Ebert
Andrea Linford
Britta Hartmann
Duska J Sidjanin
Eamonn Sheridan
Francesca Faravelli
Irene A Aligianis
Lars Langemeyer
P2860
P304
P356
10.1016/J.AJHG.2013.10.011
P407
P577
2013-12-05T00:00:00Z