Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
about
Next-Generation Sequencing in Intellectual DisabilityTruncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani familyDopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up.The promise of whole-exome sequencing in medical genetics.UBE3C promotes growth and metastasis of renal cell carcinoma via activating Wnt/β-catenin pathway.Further delineation of the KAT6B molecular and phenotypic spectrumIn frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle.Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxiasGenes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.Loss of caspase-2 augments lymphomagenesis and enhances genomic instability in Atm-deficient mice.Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy.Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.Next-generation sequencing applied to rare diseases genomics.Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.HECT-type E3 ubiquitin ligases in nerve cell development and synapse physiology.UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase.Perturbed proteostasis in autism spectrum disorders.De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.Clinical significance of the ubiquitin ligase UBE3C in hepatocellular carcinoma revealed by exome sequencing.Early Origin and Evolution of the Angelman Syndrome Ubiquitin Ligase Gene Ube3a.Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.Histomorphological Phenotyping of the Adult Mouse Brain.Translating genetic and preclinical findings into autism therapies.Altered GPM6A/M6 dosage impairs cognition and causes phenotypes responsive to cholesterol in human and Drosophila.Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
P2860
Q28080074-82D96598-199C-4A73-969E-3C099CB52566Q28506716-28553BB2-415E-44B1-AD24-5FFB3EC4B8B4Q30574381-F5A88007-EB6D-4E16-8045-A3D6BCEA18A6Q34289505-8E140F5D-D435-4C3C-902B-01230D7AF120Q34299471-021D023E-6C00-4F72-B1D1-356F558514F8Q34382912-A44FDF20-462B-42DE-BC49-04C82EB9B97DQ35058286-512DFF68-D283-4173-A74C-AEA773A568E9Q35154294-12DD0868-E55E-4F26-9AC2-0C133361A9C8Q35323545-9022EB4B-876C-45A2-859A-1C216A3739E5Q36671121-D11A144F-7A00-46A4-A7AE-3860FCDA43ADQ36775218-92AB8D33-D30B-46F7-9F16-1EFDB140EDE9Q37030724-110C8C72-CD50-4985-816E-AAD088D9F181Q37377477-4F7C0730-B1C8-4887-B130-2FD8E2FC70D2Q37444926-B6C52633-7B30-4C6C-AB20-8E99227C4EA3Q38194943-510A22C3-7ED0-4388-906B-2230B2A5691AQ38202142-C8FAC3FE-C414-4592-BDA5-5C14E9705B7BQ38263926-656D69BA-D068-4C92-AD9C-937644FEC696Q38483115-FE7BE374-3674-4822-9738-8FB4985156E7Q38724896-F2FB0580-451B-4B2D-9048-BA7E4C517EEAQ38882773-4D618B27-A9D5-4B16-8033-3F17FBD0BF49Q38993202-9A2A4136-1F6B-4638-9C1B-3F880F8B2BC8Q39034333-F422AC0F-9956-415B-B83E-1F675D469AFAQ39191796-AC61ECA6-AC9B-45E4-AE73-CC03F49F0CC1Q41648476-C249DD5E-7960-41D5-9BDC-5CA3861C5ED6Q41929465-E131AEF5-90FD-4F8C-8ED6-4DB8E069741EQ48537271-859BCB5E-9BBD-431B-A45E-657788BBC42DQ49337186-877CD4A5-FE21-4153-8BF3-2550802D14D4Q50634469-33120100-3B53-4CC5-A7D0-073BC00D6637Q52776154-51C63B60-E72C-49ED-9412-1C758B5855AFQ55521682-433625AB-3C81-44D1-BECA-B8A42CD9C8DFQ56395221-2B5A80AE-F9D0-419E-BAE6-61472908A0DD
P2860
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
Deficiency for the ubiquitin l ...... ellectual-disability syndrome.
@ast
Deficiency for the ubiquitin l ...... ellectual-disability syndrome.
@en
type
label
Deficiency for the ubiquitin l ...... ellectual-disability syndrome.
@ast
Deficiency for the ubiquitin l ...... ellectual-disability syndrome.
@en
prefLabel
Deficiency for the ubiquitin l ...... ellectual-disability syndrome.
@ast
Deficiency for the ubiquitin l ...... ellectual-disability syndrome.
@en
P2093
P2860
P50
P1476
Deficiency for the ubiquitin l ...... ellectual-disability syndrome.
@en
P2093
Adi Har-Zahav
Alexandra Segref
Andrew Edwards
Anna-Karin B Gerdin
Christine Podrini
David J Adams
Edward Ryder
Guntram Borck
Holger Thiele
Jacqueline K White
P2860
P304
P356
10.1016/J.AJHG.2012.10.011
P407
P50
P577
2012-11-29T00:00:00Z