Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males. - Test2 - elhamkhani - TriplyDB

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.

http://www.wikidata.org/entity/Q54413738

about

Fragile X syndrome: the FMR1 CGG repeat distribution among world populations RNA Secondary Structure Modulates FMRP's Bi-Functional Role in the MicroRNA Pathway Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP Channelopathy pathogenesis in autism spectrum disorders The pathophysiology of fragile X (and what it teaches us about synapses)The FMRP regulon: from targets to disease convergence The unstable repeats--three evolving faces of neurological disease The amino-terminal structure of human fragile X mental retardation protein obtained using precipitant-immobilized imprinted polymers Subcellular fractionation and localization studies reveal a direct interaction of the fragile X mental retardation protein (FMRP) with nucleolin Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage response From FMRP function to potential therapies for fragile X syndrome.Modeling fragile X syndrome in the Fmr1 knockout mouse Fragile X syndrome: mechanistic insights and therapeutic avenues regarding the role of potassium channels.Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.Fragile X syndrome due to a missense mutation.A 3' untranslated region variant in FMR1 eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR A nonsense mutation in FMR1 causing fragile X syndrome.The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.Human FMRP contains an integral tandem Agenet (Tudor) and KH motif in the amino terminal domain.Repeat-associated non-AUG translation and its impact in neurodegenerative disease.A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond.Crystal structure reveals specific recognition of a G-quadruplex RNA by a β-turn in the RGG motif of FMRP.Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity.FMR1, circadian genes and depression: suggestive associations or false discovery?Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline.Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.New perspectives on the biology of fragile X syndrome The neurobiology of X-linked intellectual disability.Next generation sequencing to dissect the genetic architecture of KNG1 and F11 loci using factor XI levels as an intermediate phenotype of thrombosis.Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.In Silico Analysis of FMR1 Gene Missense SNPs.Fragile X syndrome and fragile X-associated disorders.Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys.Recent advances in assays for the fragile X-related disorders.Axonal ribosomes and mRNAs associate with fragile X granules in adult rodent and human brains.Most Martin-Bell syndrome (FMR1-related disorder) Venezuelan patients did not show CGG expansion but instead display genetic heterogeneity.

P2860

Q24629837-20E2D7C8-4A82-42C8-8E10-87B095C843AE Q26747489-EB4093CC-CE06-4B46-9C9E-EB1F23B75E77 Q26773167-96147022-773E-44E2-9922-EFF02686B5FE Q26864726-B2F4A281-6BBC-446C-97E7-B6D51346EF4F Q27010675-1EC27E0E-C15A-4F0E-B4DC-1519C6EC931C Q27014002-F25F1D4D-F34F-422A-A73C-5CE2D6B928F7 Q27025923-C6545E16-1E32-4C35-A8FF-1D1AEB34A0FB Q27700018-4EA22968-835F-4746-8A19-1AC27ED8B49C Q28114773-E769B819-CBA0-4F10-B1E0-145FF1F5EA2D Q28115339-0D9436A4-1A8E-4A68-B99C-E379073717E8 Q28117547-014F0930-20F6-40E8-A380-16A1C31E6314 Q30410502-2434B562-5698-4781-92EE-67453CA2D451 Q30420595-0790E880-8916-4000-93F8-D60BED342FA6 Q30448604-492E65FF-94A8-4406-8BA2-3745CD027DE0 Q30461208-1C40CA91-EC8B-4D09-B9D8-C8EF0784B46E Q34167443-D36D1079-87CD-46B3-A295-10B718769E55 Q34215629-4127086C-FD98-48D9-879E-14B9ACB07CE8 Q34501231-CB8629BC-D01D-40C0-9C5E-73FCA4E58B37 Q34694759-7E2A0D3B-1C8C-43B8-84E9-FA086CD03304 Q35170163-39D91298-2C9B-4AA2-92F5-7C9BBD28F9BB Q35239377-918C36EB-57FA-4F0E-901B-76C78BD96D8A Q35340115-73066AB6-3764-4B7B-B8E8-6BC41713801B Q35483780-70EE72C3-38CC-4DA6-A9E9-586351594620 Q35614072-B53604B7-3E57-4D5A-BCFD-5F8B1CA455A3 Q36120228-8ACDEB7E-634C-4B2B-A147-58F7BFE48FCA Q36231705-F6EDC011-6CB2-4F60-96D5-5349B91F65B0 Q36333998-4ECAE33E-D220-4609-9580-8D25B5856496 Q36769556-D3E2A4AD-BE78-4D08-8625-C19402E6780F Q36851447-B4111451-B4D3-425F-9826-FA58A68C3A61 Q37524454-124115A9-CC97-42D8-81B9-9172E74BB528 Q37989764-5F04CC82-F080-48F2-A98C-63590942E402 Q38118810-E341582A-32B7-43C7-9916-C21C7900765E Q38818548-E9CAC9BB-45EA-4713-A528-E350E92D3464 Q39125843-0EC37AF6-B5F7-4E4F-BFF0-655E3CF814AE Q39994872-EA9A4FE7-FB8D-477D-8550-6D2D58816030 Q47140616-6FC5212C-C475-4075-BF6A-DD4327E75EA4 Q47236766-7840C066-598E-44EB-BF2C-12A77586D073 Q47630636-26B26AC4-E730-428D-9414-E6D3D5927C1E Q47829666-D43BF025-A071-495B-9978-7A1CC1418D70 Q47920957-2EA55CA3-8506-481A-9F4D-60B3223A27AA

P2860

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.

http://www.wikidata.org/entity/Q54413738

description

2010 nî lūn-bûn

@nan

2010年の論文

@ja

2010年学术文章

@wuu

2010年学术文章

@zh-cn

2010年学术文章

@zh-hans

2010年学术文章

@zh-my

2010年学术文章

@zh-sg

2010年學術文章

@yue

2010年學術文章

@zh

2010年學術文章

@zh-hant

name

Identification of novel FMR1 v ...... developmentally delayed males.

@en

Identification of novel FMR1 v ...... developmentally delayed males.

@nl

type

label

Identification of novel FMR1 v ...... developmentally delayed males.

@en

Identification of novel FMR1 v ...... developmentally delayed males.

@nl

prefLabel

Identification of novel FMR1 v ...... developmentally delayed males.

@en

Identification of novel FMR1 v ...... developmentally delayed males.

@nl

P1433

Q54413738-EBF9405C-D319-4D36-8F59-9312879A6DEA

P1476

Q54413738-2AE88C4D-9177-46A5-8A4B-AAC4D1666620

P2093

Q54413738-3155D302-7A00-414B-BD2B-CB0159929F93

Q54413738-38AD7D74-5BB8-4961-B008-DAF989C0DC65

Q54413738-77BA2012-27DD-4414-82A4-6E47D120C6DA

Q54413738-A622637A-5ED0-4B3E-B60F-462B73CC80D4

Q54413738-C02DE9D8-2D92-40F3-8C6B-4B170F62713F

Q54413738-D6209827-6A01-466C-8B89-8CC33F08C9B3

Q54413738-F6DEEE1D-FB7B-4648-B72B-435B7FC17B55

P2860

Q54413738-002AA343-1A44-4419-B88B-5B5F7C6FAE4E

Q54413738-0923C7AE-5181-48B0-8115-B9B6970570E3

Q54413738-11769220-F6B2-4E9E-A6E5-37A6EA02656D

Q54413738-1AFF9ED0-2754-4AB4-967A-1B42CBADA90B

Q54413738-1CAAF455-F965-4AB2-8BC9-74CFAED1E28E

Q54413738-1FE66293-A70F-4EA9-8016-62CF69C145F1

Q54413738-2840EC02-DE7C-4CBD-9C0E-1149FF64FF97

Q54413738-3873AEB6-62E7-4FE4-9D13-B4B6B40FEB6C

Q54413738-3A8FFE0A-6FD8-4A41-9443-58EFEF383B0B

Q54413738-3C37ABCD-3B3B-4897-A4C5-39BE86021E09

P304

Q54413738-18F2C13C-28FD-404E-87E9-8301F470362D

P31

Q54413738-A79258B9-75D1-40F6-8E5C-CE9AD21B9318

P356

Q54413738-D51BED37-37F8-4B09-A59A-6AD0CCE2B3D7

P407

Q54413738-1239DDAF-E438-4F9F-9E6A-D30294203875

P433

Q54413738-6512B4EA-CF04-4A12-AD7E-92076D96278E

P478

Q54413738-3509F20E-D4C6-40DF-90F4-7522E598DC04

P577

Q54413738-4134B061-01D3-4486-ABAD-1C5217837379

P5875

Q54413738-62229737-A0DB-4A36-95AC-1868112341C0

P698

Q54413738-2542037C-B79B-4988-8D3F-EFE712D72BD8

P932

Q54413738-7013B2FD-E3CE-4DF2-9DE3-B1BE7EEA3B9D

P356

P1433

American Journal of Medical Genetics

P1476

Identification of novel FMR1 v ...... developmentally delayed males.

@en

P2093

Bradford Coffee

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

David J Cutler

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

Joshua A Suhl

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

Michael E Zwick

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

Stephen C Collins

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

Stephen T Warren

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

Steven M Bray

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

P2860

The diploid genome sequence of an individual human

Human MicroRNA targets

The diploid genome sequence of an Asian individual

A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein

The complete genome of an individual by massively parallel DNA sequencing

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes.

Targeted capture and massively parallel sequencing of 12 human exomes

Accurate whole human genome sequencing using reversible terminator chemistry

Mapping short DNA sequencing reads and calling variants using mapping quality scores

The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group

P304

2512-2520

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

P31

scholarly article

P356

10.1002/AJMG.A.33626

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

P407

P433

10

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

P478

152A

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

P577

2010-10-01T00:00:00Z

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

P5875

46010560

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

P698

20799337

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

P932

2946449

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