Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome - Test2 - elhamkhani - TriplyDB

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

http://www.wikidata.org/entity/Q24535749

about

Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication Deletion 22q13.3 syndrome Advances in autism genetics: on the threshold of a new neurobiology Importance of Shank3 protein in regulating metabotropic glutamate receptor 5 (mGluR5) expression and signaling at synapses Progressive accumulation of amyloid-beta oligomers in Alzheimer's disease and in amyloid precursor protein transgenic mice is accompanied by selective alterations in synaptic scaffold proteins Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3 The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)Enhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autism Contribution of SHANK3 mutations to autism spectrum disorder Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms Lateral organization of the postsynaptic density A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion 22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome Clinical utility gene card for: deletion 22q13 syndrome Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome Direct interaction of post-synaptic density-95/Dlg/ZO-1 domain-containing synaptic molecule Shank3 with GluR1 alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptor Shank3 deficiency induces NMDA receptor hypofunction via an actin-dependent mechanism Striatopallidal dysfunction underlies repetitive behavior in Shank3-deficient model of autism.Zinc deficiency and low enterocyte zinc transporter expression in human patients with autism related mutations in SHANK3.SHANK proteins: roles at the synapse and in autism spectrum disorder.Ultrastructural analyses in the hippocampus CA1 field in Shank3-deficient mice.Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?Association study of SHANK3 gene polymorphisms with autism in Chinese Han population.Altered Striatal Synaptic Function and Abnormal Behaviour in Shank3 Exon4-9 Deletion Mouse Model of Autism SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.Developmental vulnerability of synapses and circuits associated with neuropsychiatric disorders.Loss of predominant Shank3 isoforms results in hippocampus-dependent impairments in behavior and synaptic transmission.SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice

P2860

Q21198697-BCB508D5-DAA7-4DEF-89B8-49775244F2B9 Q21202915-1E5987B7-E851-41D5-B581-2CDF699FD83F Q22251023-B89AB8A2-67C2-4B81-9EED-2EAC64707236 Q24317227-1615ACFE-FF3C-4C25-BCD7-F385E5B4F791 Q24329069-C7866714-FE7A-4227-9A11-85CF3827C375 Q24337114-B51BBCBB-7286-4D8C-87E0-D0204CB7B80A Q24532056-0E298963-CAD4-46E3-8DA3-52B8886FD3CC Q24596677-13E93B61-50BF-4531-B392-9D891B51A16E Q24612792-A92A5B71-7958-4A18-9B1D-7CE766C02F32 Q24620573-949DC2EF-921B-40B2-B857-C7061213347B Q24648672-2A159D3B-7D41-4A37-BB89-9A995B5DA748 Q24656220-96996F7F-0699-4611-997E-A4472BF6CF22 Q24676539-068959AA-F904-42F0-A79F-13E276C49254 Q27013872-5C498A3B-3703-44A5-AEAE-B8BC23F7AB45 Q28079929-CC66526D-27AC-42EB-80D1-8A9A9C485FA2 Q28237432-D8AF1167-F67A-4949-9915-29A994E2498F Q28258859-7F1F74C5-D3CA-4DFA-A03C-BAACCAC779F7 Q28259043-96C9CBB1-002E-4660-8DD0-DAE0CAC8B097 Q28272326-C22C2038-27A1-4DE0-ACA5-2F8F482BD2DB Q28273097-B9D5AB60-D36D-4B72-BDF0-730769F2B74E Q28274275-A94A2C80-6F26-4B2C-BD50-64598A8BF1A2 Q28281114-64DC50C0-C76C-457D-8C18-2888A51F8A2D Q28300418-B7E28A4D-553A-4048-B5F2-1745B03CD72F Q28300606-A14B50F3-CD35-4E96-B249-F3C558EB224A Q28306951-B79D7477-C8AF-4FA5-9B91-54D703BF7974 Q28511096-C8EB08E4-3E80-4211-B2D0-17425E1F58B6 Q28575579-41F7E6E5-E3A7-40DD-B3D5-C3C519BE945D Q30008746-F48D3B28-DFDD-4710-9536-0756E36411F0 Q30008762-255E34B9-6D66-466F-95F0-BA69C34D4C61 Q30008776-A554FFE6-BA8A-41D0-BD15-44072064A28E Q30009142-B2EC8CA9-B63D-42BA-9221-41F6EEB90AE1 Q30009184-AD0E5C15-BB20-4C04-BAFC-85C7D6290D4B Q30010108-E9E301D7-9749-4AEF-A7D7-C27552EAE675 Q30157213-E3A045A5-7339-4323-8ECD-55C840539F5B Q30362074-EB51C353-CF4B-4CB5-B797-133EF170FF76 Q30428959-340AFF77-C53C-431C-A85C-E4B4DC9C2D3C Q30435763-C17DE8DB-D2D6-4A9F-A960-498EA45A1F5F Q30438299-68E9ACB5-E29B-4D28-A14B-B77F547AFB4F Q30438816-49E24AFF-86EE-4F5E-849D-3733E8EBFDEF Q30461096-CC77C302-934F-4A8C-BA33-AC5B1083CA8A

P2860

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

http://www.wikidata.org/entity/Q24535749

description

2001 nî lūn-bûn

@nan

2001 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2001 թվականի հունիսին հրատարակված գիտական հոդված

@hy

2001年の論文

@ja

2001年論文

@yue

2001年論文

@zh-hant

2001年論文

@zh-hk

2001年論文

@zh-mo

2001年論文

@zh-tw

2001年论文

@wuu

name

Disruption of the ProSAP2 gene ...... the 22q13.3 deletion syndrome

@ast

Disruption of the ProSAP2 gene ...... the 22q13.3 deletion syndrome

@en

Disruption of the ProSAP2 gene ...... the 22q13.3 deletion syndrome

@en-gb

Disruption of the ProSAP2 gene ...... the 22q13.3 deletion syndrome

@nl

type

label

Disruption of the ProSAP2 gene ...... the 22q13.3 deletion syndrome

@ast

Disruption of the ProSAP2 gene ...... the 22q13.3 deletion syndrome

@en

Disruption of the ProSAP2 gene ...... the 22q13.3 deletion syndrome

@en-gb

Disruption of the ProSAP2 gene ...... the 22q13.3 deletion syndrome

@nl

prefLabel

Disruption of the ProSAP2 gene ...... the 22q13.3 deletion syndrome

@ast

Disruption of the ProSAP2 gene ...... the 22q13.3 deletion syndrome

@en

Disruption of the ProSAP2 gene ...... the 22q13.3 deletion syndrome

@en-gb

Disruption of the ProSAP2 gene ...... the 22q13.3 deletion syndrome

@nl

P1433

Q24535749-CBF92C42-1DB0-440D-BD15-E8081592A4F8

P1476

Q24535749-EAFCBD9D-CBA5-4273-B2FB-F22A238B89D6

P2093

Q24535749-079C158C-C9B4-4092-BD51-E8FEBAC55408

Q24535749-A40644B4-97BF-4321-9FE4-FFE2724FCA9A

P2860

Q24535749-07E406B9-4D7F-43BE-89C9-36B0EBC2F38A

Q24535749-0B4AA800-37C1-4739-B5BF-CC531E4D2CCD

Q24535749-0E1C1ED3-08EF-459B-B343-F502008DADC9

Q24535749-10B20274-042F-4C50-8178-916C23BD3AF5

Q24535749-23C290AC-2DC1-4211-B97F-DF5DA6C236B1

Q24535749-34B97A56-1928-4CD2-A79F-E35CF43CD14A

Q24535749-36205E73-06F8-4632-A44D-6DF1FDFBBF1E

Q24535749-4AC12F9A-78BE-477B-B9A3-728315A93A9D

Q24535749-4E2D842B-76A2-4F84-A9F0-996C61356632

Q24535749-5FCAA0E7-E5B6-4B41-AC6C-443311CBE103

P304

Q24535749-607A4A32-6DA9-4A10-8331-849B7275472A

P31

Q24535749-E5B1A712-64F5-4E32-9E1F-2821DEF7239A

P356

Q24535749-8C792077-C663-4660-87E0-6850F70341ED

P407

Q24535749-6ECFA472-C150-4A13-80E5-086B0A4EF6FF

P433

Q24535749-B01F8550-0D1B-417B-8FD0-DA52684F429B

P478

Q24535749-34BFA44E-BB00-4463-93FC-B45A73711A93

P50

Q24535749-AE2BED36-750E-4ED4-9923-6501DD5961E5

Q24535749-BF4351F6-9D11-4785-83ED-17443A1006AE

Q24535749-CAE688F9-25FF-4329-B71D-82B3B2664B98

Q24535749-CE3A8801-AD73-4D6F-906E-2B9BF5598363

Q24535749-E1B923E6-A741-4C7F-BFF8-B7375EB052E4

P577

Q24535749-7B231D67-0471-47F0-9CCF-4C9D2049F72F

P5875

Q24535749-CCE9EEF4-E29A-48F6-8BEB-D2FD44965FB3

P698

Q24535749-D60AC6ED-66CD-4297-88C9-DF95ADC69A3F

P932

Q24535749-6817BD74-B876-4447-88F0-84C7D0B4C84E

P356

P1433

American Journal of Human Genetics

P1476

Disruption of the ProSAP2 gene ...... the 22q13.3 deletion syndrome

@en

P2093

Felisari G

http://www.w3.org/2001/XMLSchema#string

Selicorni A

http://www.w3.org/2001/XMLSchema#string

P2860

Two novel human RAB genes with near identical sequence each map to a telomere-associated region: the subtelomeric region of 22q13.3 and the ancestral telomere band 2q13

Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin

Identification of a chromosome 3p14.3-21.1 gene, APPL, encoding an adaptor molecule that interacts with the oncoprotein-serine/threonine kinase AKT2

Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development

Genomic sequencing

The DNA sequence of human chromosome 22

Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density

Signal-processing machines at the postsynaptic density

Proline-rich synapse-associated proteins ProSAP1 and ProSAP2 interact with synaptic proteins of the SAPAP/GKAP family

Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3

P304

261-268

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1086/321293

http://www.w3.org/2001/XMLSchema#string

P407

P433

2

http://www.w3.org/2001/XMLSchema#string

P478

69

http://www.w3.org/2001/XMLSchema#string

P50

Renato Borgatti

Chiara Gagliardi

Orsetta Zuffardi

Maria Clara Bonaglia

P577

2001-06-18T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

11908599

http://www.w3.org/2001/XMLSchema#string

P698

11431708

http://www.w3.org/2001/XMLSchema#string

P932

1235301

http://www.w3.org/2001/XMLSchema#string