A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
about
RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagyLoss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humansMembrane-shaping disorders: a common pathway in axon degenerationA developmental and genetic classification for malformations of cortical development: update 2012Rab and Arf proteins in genetic diseasesPolymicrogyria: a common and heterogeneous malformation of cortical development.A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeletonLarge homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.Genomic variants and variations in malformations of cortical development.Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in miceLoss-of-function mutations in RAB18 cause Warburg micro syndrome.RabGAP22 is required for defense to the vascular pathogen Verticillium longisporum and contributes to stomata immunityWarburg Micro syndrome is caused by RAB18 deficiency or dysregulation.RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex.Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus.Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.Genetic disorders associated with postnatal microcephaly.Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome.Consanguinity as an Adjunct Diagnostic Tool.Warburg micro syndrome in siblings from India.TBC1D20 mediates autophagy as a key regulator of autophagosome maturation.Evolution of signal multiplexing by 14-3-3-binding 2R-ohnologue protein families in the vertebrates.Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.Evidence for a vast peptide overlap between West Nile virus and human proteomes.A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility.Novel RAB3GAP1 Mutations Causing Warburg Micro Syndrome in Two Italian Sisters.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.Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.
P2860
Q24309113-1A3C54F9-DF90-44E6-AAC6-3C3A7A98B194Q24339604-6D12560D-8620-4BB2-9BC0-7F07373F2008Q26852808-6F1F957D-D70A-4DE1-9950-0759663A370DQ26858999-C01B7B58-4A38-4B6C-9708-91B55B60245FQ26862704-D869ECD2-648C-4E67-AE6F-D618D35E7162Q30828370-6F0275E7-F8F2-442B-8E66-FBA2CAA9DF36Q33677248-3744FC3C-D550-46B3-AEB0-00A82D598308Q34474699-2D045A04-589D-410D-8DD9-987DBFEDDCABQ34478370-DB2D40C6-5A54-472C-A7F3-BE6A065D78B2Q34700522-24A3B67D-8F4A-4644-A215-B33540C3688BQ34768417-0FD4D200-C84A-4BE6-A1F2-651272820F2FQ35088574-A5E1887A-841D-4702-A160-78D286972F67Q36246988-0DB4C813-BE83-4F04-B590-96B8CDA902DCQ36583899-FB5883BC-1192-4607-A414-F73EA51382F7Q37059506-1DF56463-C8EA-44C4-A456-4AF7F75AD6AAQ37657008-2BF76188-D08C-4AC4-AE9E-789A2786AB39Q38061994-ADB09CC6-5B14-490C-B64A-CEDA9F4E64A0Q38212652-6ECBB5D5-61EF-4FB3-81CA-8F035E320CC1Q38894893-CB20207C-A803-4338-9B71-D1C056883CEDQ40772677-ECAC40B8-3795-419A-A423-1DE8BD593665Q41272789-A4BF3A8A-415B-48B4-9E24-5EC0139CB732Q41575670-5A532A77-F99C-49EE-9216-BCC36A0857D2Q41778553-382B47BD-5030-4C69-AF37-9FB1E68CF387Q42688004-87CE0565-FF1C-435E-A83C-1ED90A9F6EB9Q42984053-AB1EEB3B-8394-4A4A-BA1E-03CE3EA9B7C5Q47705882-782AD3F5-47DA-4CD9-9C0A-39B1001331C3Q52576058-270CB844-7105-4D6F-84B9-20E5AAA3DE11Q53089645-50B023CD-C81F-449B-AF58-C3F6934E9E29Q53534814-73B493F4-D244-488A-B4C0-C77C8C12E0E0Q55054741-8C261AC9-4FD6-4933-B45E-0DBA7CF6E3AB
P2860
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
@zh
2010年论文
@zh-cn
name
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
@en
type
label
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
@en
prefLabel
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
@en
P2093
P1433
P1476
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
@en
P2093
Alexander E Volk
Angela Steiert
Bernd Wollnik
Deborah J Morris-Rosendahl
Friederike Körber
Guntram Borck
Heidrun Wunram
Peter Herkenrath
Sigrid Roters
P2888
P356
10.1007/S00439-010-0896-2
P577
2010-10-22T00:00:00Z
P6179
1008988437