Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

scientific article

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.AJHG.2012.04.004
P3181OpenCitations bibliographic resource ID3554505
P932PMC publication ID3376638
P698PubMed publication ID22541558
P5875ResearchGate publication ID224865410

P50authorJay ShendureQ15989781
Ethylin Wang JabsQ16226714
Jeremy SchwartzentruberQ40283484
Peter H. ByersQ43133307
A. Micheil InnesQ55603472
Michael J BamshadQ88186017
François P. BernierQ91969027
Deborah A NickersonQ92804625
Jacek MajewskiQ110771035
Oana CaluseriuQ113001000
Jillian S ParboosinghQ114435061
FORGE CanadaQ115667715
Kati J BuckinghamQ117235372
P2093author name stringJulie Lauzon
Bridget A Fernandez
Jeffrey W Innis
Sarah Ng
Gregor Andelfinger
Richard H Scott
Jerome L Gorski
Victoria Siu
Jane L Schuette
Hilary Racher
Margaret McMillin
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Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD IQ24600454
Exome sequencing identifies the cause of a mendelian disorderQ24607742
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyQ24633650
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The Sequence Alignment/Map format and SAMtoolsQ27860966
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)Q28215649
Interaction of the BMPR-IA tumor suppressor with a developmentally relevant splicing factorQ28280699
Mammalian polycomb-mediated repression of Hox genes requires the essential spliceosomal protein Sf3b1Q28593785
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing dataQ29547161
Exome sequencing as a tool for Mendelian disease gene discoveryQ29615382
Splicing factor 3b subunit 4 binds BMPR-IA and inhibits osteochondral cell differentiationQ33285124
Autosomal recessive inheritance of Nager acrofacial dysostosisQ33592621
Nager acrofacial dysostosisQ33595799
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).Q34084780
A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosaQ35136973
Signals, pathways and splicing regulationQ36824367
Bone morphogenetic protein signaling in limb outgrowth and patterningQ36895878
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC geneQ37277264
Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAsQ37417850
Temporomandibular joint replacement for ankylosis correction in Nager syndrome: case report and review of the literatureQ37896840
Postaxial acrofacial dysostosis syndromeQ39210007
Nager acrofacial dysostosis: male-to-male transmission in 2 familiesQ41171711
Nager "syndrome" versus "anomaly" and its nosology with the postaxial acrofacial dysostosis syndrome of Genée and WiedemannQ43479961
Nager acrofacial dysostosis: autosomal dominant inheritance in mild to moderately affected mother and lethally affected phocomelic son.Q45468830
Acrofacial dysostosesQ45492198
Developmental expression of the murine spliceosome-associated protein mSAP49.Q46065063
Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome.Q52088528
Differential diagnosis of Nager acrofacial dysostosis syndrome: report of four patients with Nager syndrome and discussion of other related syndromesQ71699516
Deletion of 1q in a patient with acrofacial dysostosisQ74528951
P433issue5
P407language of work or nameEnglishQ1860
P921main subjecthaploinsufficiencyQ852654
spliceosomeQ915868
P304page(s)925-933
P577publication date2012-04-26
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleHaploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome
P478volume90

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