RNU4ATAC - RNA, U4atac small nuclear (U12-dependent splicing)-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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100151683 RNU4ATAC

基因描述

Type	Description
Definition	RNA, U4atac small nuclear (U12-dependent splicing)

研究结论

Date	Results	Publications
2019-08-24 12:18:00	this study shows the immunologic and hematologic systems of 3 patients with Roifman syndrome from 2 unrelated kindreds bearing RNU4ATAC variants	29391254
2019-02-02 11:27:00	the identification of a novel RNU4ATAC variant within the mutational hotspot for MOPD1-causative variants further strengthens the critical role of the 5' stem-loop structure of U4atac in health and disease. Finally, this analysis enabled us to provide prenatal diagnosis and genetic counselling for the mother's third pregnancy, the first report of its kind in the context of inherited RNU4ATAC variants.	29370840
2019-01-12 11:06:00	This report expands the phenotypic spectrum for biallelic RNU4ATAC disorder causing variants and is the first to establish the genetic cause for Lowry Wood syndrome	29265708
2018-12-22 10:07:00	We are thus confirming that RNU4ATAC is the gene responsible for LWS and provide a genotype-phenotype correlation analysis	30368667
2017-10-21 11:48:00	report on a novel 5.8 Mb deletion of 2q14.1q14.3 identified by array comparative genomic hybridization in a fetus with severe intrauterine growth retardation and partial agenesis of the corpus callosum.	27346851

名称对应

Type	IDs
Synonymous	MOPD1, RFMN, RNU4ATAC1, TALS, U4ATAC
Gene
Nucleutide sequences
Protein sequencees
Others	UniGene: Hs.689638

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mRNA

Protein

UniprotKB

Description

Refseq

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Pubmed编号	文献信息	发表日期	相关基因
30368667	Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype. Hum. Genet. Ivan Shelihan , Sophie Ehresmann , Cinzia Magnani , Francesca Forzano , Chiara Baldo , Nicola Brunetti-Pierri , Philippe M Campeau	2018-12-01	-
29391254	Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome. J Allergy Clin Immunol Jessica Heremans , Josselyn E Garcia-Perez , Ernest Turro , Susan M Schlenner , Ingele Casteels , Roxanne Collin , Francis de Zegher , Daniel Greene , Stephanie Humblet-Baron , Sylvie Lesage , Patrick Matthys , Christopher J Penkett , Karen Put , Kathleen Stirrups , National Institute for Health Research BioResource , Chantal Thys , Chris Van Geet , Erika Van Nieuwenhove , Carine Wouters , Isabelle Meyts , Kathleen Freson , Adrian Liston	2018-08-01	-
29265708	The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. Am J Med Genet A Laura S Farach , Mary E Little , Angela L Duker , Clare V Logan , Andrew Jackson , Jaqueline T Hecht , Michael Bober	2018-02-01	-
29370840	Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly. Hum. Genomics Ye Wang , Xueli Wu , Liu Du , Ju Zheng , Songqing Deng , Xin Bi , Qiuyan Chen , Hongning Xie , Claude FÃ©rec , David N Cooper , Yanmin Luo , Qun Fang , Jian-Min Chen	2018-01-25	-
29117863	RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. BMC Biol Nila Roy Choudhury , Gregory Heikel , Maryia Trubitsyna , Peter Kubik , Jakub Stanislaw Nowak , Shaun Webb , Sander Granneman , Christos Spanos , Juri Rappsilber , Alfredo Castello , Gracjan Michlewski	2017-11-08	-
27040866	Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome. Clin. Genet. A Putoux , A Alqahtani , L Pinson , A D C Paulussen , J Michel , A Besson , S Mazoyer , I Borg , S Nampoothiri , A Vasiljevic , A Uwineza , D Boggio , F Champion , C E de Die-Smulders , T Gardeitchik , W K van Putten , M J Perez , Y Musizzano , F Razavi , S Drunat , A Verloes , R Hennekam , L Guibaud , E Alix , D Sanlaville , G Lesca , P Edery	2016-12-01	-
27346851	A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation. Birth Defects Res. Part A Clin. Mol. Teratol. Carole Goumy , Mathilde Gay-Bellile , Gaelle Salaun , Stephan Kemeny , Eleonore Eymard-Pierre , Marie Biard , Celine Pebrel-Richard , Philippe Vanlieferinghen , Christine Francannet , Andrei Tchirkov , Helene Laurichesse , Charles Rouzade , Laetitia Gouas , Philippe Vago	2016-09-01	-
26522830	Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing. Nat Commun Daniele Merico , Maian Roifman , Ulrich Braunschweig , Ryan K C Yuen , Roumiana Alexandrova , Andrea Bates , Brenda Reid , Thomas Nalpathamkalam , Zhuozhi Wang , Bhooma Thiruvahindrapuram , Paul Gray , Alyson Kakakios , Jane Peake , Stephanie Hogarth , David Manson , Raymond Buncic , Sergio L Pereira , Jo-Anne Herbrick , Benjamin J Blencowe , Chaim M Roifman , Stephen W Scherer	2015-01-01	-
24865609	Biochemical defects in minor spliceosome function in the developmental disorder MOPD I. RNA Faegheh Jafarifar , Rosemary C Dietrich , James M Hiznay , Richard A Padgett	2014-07-01	RNU4ATAC
23794361	Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I. Am J Med Genet A Ghada M H Abdel-Salam , Mohamed S Abdel-Hamid , Nihal A Hassan , Mahmoud Y Issa , Laila Effat , Samira Ismail , Mona S Aglan , Maha S Zaki	2013-08-01	-

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