Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains. - Wikidata - wikimedia - TriplyDB

Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains.

Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains.

http://www.wikidata.org/entity/Q42609875

about

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome Zebrafish sex determination and differentiation: involvement of FTZ-F1 genes Genome-wide analysis of histidine repeats reveals their role in the localization of human proteins to the nuclear speckles compartment Expanded HOXA13 polyalanine tracts in a monotreme Molecular origins of rapid and continuous morphological evolution CAG-encoded polyglutamine length polymorphism in the human genome Hsp70 chaperones and type I PRMTs are sequestered at intranuclear inclusions caused by polyalanine expansions in PABPN1 Natural selection drives the accumulation of amino acid tandem repeats in human proteins.HOXA13 and HOXD13 expression during development of the syndactylous digits in the marsupial Macropus eugenii Phylogenetic and molecular characterization of the splicing factor RBM4.Alanine repeats influence protein localization in splicing speckles and paraspeckles Mutation patterns of amino acid tandem repeats in the human proteome Genetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders.Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear Import Fork stalling and template switching as a mechanism for polyalanine tract expansion affecting the DYC mutant of HOXD13, a new murine model of synpolydactyly.PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.Association of polyalanine and polyglutamine coiled coils mediates expansion disease-related protein aggregation and dysfunction The Phox2B homeobox gene is mutated in sporadic neuroblastomas.A genomic basis for the evolution of vertebrate transcription factors containing amino Acid runs.Interactions between homopolymeric amino acids (HPAAs).A candidate gene for choanal atresia in alpaca.Intrinsic Disorder in Proteins with Pathogenic Repeat Expansions.Genomic annotation and transcriptome analysis of the zebrafish (Danio rerio) hox complex with description of a novel member, hox b 13a.Structural and functional insights into the heme-binding domain of the human soluble guanylate cyclase α2 subunit and heterodimeric α2β1.Does the Polymorphism in the Length of the Polyalanine Tract of FOXE1 Gene Influence the Risk of Thyroid Dysgenesis Occurrence?Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD).Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome.HoxA Genes and the Fin-to-Limb Transition in Vertebrates.A polyalanine antibody for the diagnosis of oculopharyngeal muscular dystrophy and polyalanine-related diseases Different morphology of amyloid fibrils originating from agitated and non-agitated conditions

P2860

Q24678062-84D9BAA2-22C9-4272-9F17-19C080A06DB3 Q24680164-F25C5443-5C1C-4A64-810F-7BBEA2787547 Q24814402-63099F1D-0265-4AC7-816E-252F3B5616DE Q27312679-74DF6725-0507-44F3-8DC0-B7AE4B962326 Q28741679-6330D483-F88D-4810-81DF-00F1F5B420EF Q28770048-BA7124CB-3FDA-49F7-B7BD-2EC69614340C Q33285435-36889329-F7F2-477F-9BFE-001F92558591 Q33488516-C44258C7-F311-4D51-B857-EA049B85B016 Q33881339-B29CF597-31FD-4438-ABAE-06AD10397537 Q34124043-D234DC6A-D9D1-4FF2-AF17-13073ADF6E19 Q34634628-238CC0A0-7AD7-48A3-80D6-CE3B4C3B8C35 Q34711918-0EE8500F-E1CE-45D7-86C0-22054ADDBDD9 Q35013472-6B1B7D40-5677-4125-A88A-AD48947BBEEF Q35510647-29528E57-55BA-4E21-B982-F7320E9287AD Q37065946-6D4A6416-65CF-42B5-B113-718412EA53C7 Q37351799-9D651329-8B21-4152-8173-312205F48972 Q37849639-E74E2D8A-45FA-4ECC-A3B0-51E8E11C3375 Q39027090-128A3C73-849F-4BA9-AC5E-8EAF708F627B Q40498073-9C83707A-942A-4BE7-81C0-9779BCAA8517 Q41977055-3BACA291-3820-49F8-B217-31A3012AC95E Q42081147-4FC417E1-561A-4DEA-B296-737037FB2026 Q44912445-2781C433-609D-417E-AB2E-0F7F205E4D8C Q47351608-E8652406-EE8F-4709-8EB2-14C49DF1CBD1 Q48120272-5A3A7721-214D-42B1-A1FD-FF3C85350E91 Q48609421-1118C57D-F4CE-4D2A-9ABC-A3FF702DBFBC Q50284415-5AC31274-851D-4F5B-BD7C-804D1551DD7B Q51259845-5DB85F89-C539-424C-B10F-0063DB67DEE3 Q53493760-0DC440EF-4AFE-4C62-A6FC-70BAB3148672 Q54668649-2EF7EF91-319E-4338-AA0E-F10368B19B6C Q57233128-DD6E1546-DEA0-4677-AFDD-9C363F9D47E8 Q58125089-7895D1BE-5EF3-44B4-AEB6-D769513861A6

P2860

Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains.

http://www.wikidata.org/entity/Q42609875

description

2003 nî lūn-bûn

@nan

2003年の論文

@ja

2003年論文

@yue

2003年論文

@zh-hant

2003年論文

@zh-hk

2003年論文

@zh-mo

2003年論文

@zh-tw

2003年论文

@wuu

2003年论文

@zh

2003年论文

@zh-cn

name

Polymorphism, shared functions ...... oding for polyalanine domains.

@en

Polymorphism, shared functions ...... oding for polyalanine domains.

@nl

type

label

Polymorphism, shared functions ...... oding for polyalanine domains.

@en

Polymorphism, shared functions ...... oding for polyalanine domains.

@nl

prefLabel

Polymorphism, shared functions ...... oding for polyalanine domains.

@en

Polymorphism, shared functions ...... oding for polyalanine domains.

@nl

P1433

Q42609875-0ED2651B-9777-4C70-A23D-977F4D52B151

P1476

Q42609875-DF4F2FFF-4B44-4A88-B1EA-CBE098BE9ED9

P2093

Q42609875-05B579B7-B943-47BF-B6D9-B04AADAADE05

Q42609875-10E3D134-1194-4C9E-926E-3086C98D53C9

Q42609875-29D29242-005B-426C-A84C-628C42D19837

Q42609875-3095B629-2A3D-4E59-945A-926595DBD2DF

Q42609875-314F571C-FF76-4381-9A08-2841F5771D55

Q42609875-588D0BA0-FD98-4EBE-8D49-6C263969443A

Q42609875-8B5186EC-4515-411A-AB2E-B451F74E9579

Q42609875-D3F4387D-58DF-4D1A-BF78-14972A690577

P2860

Q42609875-0D54DC6A-53BF-4CBE-A58C-C04426D08666

Q42609875-1165BC84-D813-483E-BA7C-4EA41ADD75D4

Q42609875-13E90E79-3049-42E4-8A9E-C6DDDAB1FE02

Q42609875-15C6C757-C99C-49C1-A5E1-D742D6674296

Q42609875-1953F750-059A-4084-88E2-4081A96FB0B1

Q42609875-1CC794A4-0135-4C61-B5C9-82D4B3FA1B6A

Q42609875-20436078-5F5A-4072-9428-51F128C32E14

Q42609875-2136106B-FAA5-4F0A-9026-D0758230F03F

Q42609875-22472328-8F09-44A1-9F22-B1F3302EADEB

Q42609875-25E2A80F-9F7E-48F4-BE66-3B2ADD7BD4C4

P304

Q42609875-807CCFA6-43BC-44C2-8715-2088F677D476

P31

Q42609875-28BA1D88-31FD-4B86-847A-7480AC3FE3C3

P356

Q42609875-86669428-AA78-42A9-B144-13BE69C2A260

P433

Q42609875-B84AA0BE-EF74-42E5-B917-D95EE5A8491D

P478

Q42609875-B06B108C-DC9B-4ED0-AF99-1FB7BC87C88A

P50

Q42609875-30C9AEAC-FFA9-4D98-8E40-64DB76D6D58C

Q42609875-4108977F-C9EE-414A-8568-7C2FC148ADB5

P577

Q42609875-ADF43267-2A9E-4E38-BCC4-2114C045A764

P5875

Q42609875-001798EC-B6D3-4EA8-9B79-943ED844DBC1

P698

Q42609875-7B6ED9D4-5DE8-4AC7-B272-7E6388EF3811

P921

Q42609875-F513DA23-0677-4892-85CA-2FC23D257C59

P356

P1433

Human Molecular Genetics

P1476

Polymorphism, shared functions ...... oding for polyalanine domains.

@en

P2093

Anik Saint-Denis

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

Francois Debeane

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

Hugo Lavoie

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

Jean-Francois Turcotte

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

Louis-Philippe Corbeil-Girard

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

Marie-Josée Dicaire

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

Martin Pagé

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

Quoc-Dien Trinh

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

P2860

Initial sequencing and analysis of the human genome

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Molecular interaction between TLE1 and the carboxyl-terminal domain of HES-1 containing the WRPW motif

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

Class III POU genes: generation of homopolymeric amino acid repeats under GC pressure in mammals

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

P304

2967-2979

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

P31

scholarly article

P356

10.1093/HMG/DDG329

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

P433

22

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

P478

12

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

P50

P577

2003-09-30T00:00:00Z

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

P5875

5606315

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

P698

14519685

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

P921

convergent evolution