AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis

scientific article published on 17 March 2016

AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1136/JMEDGENET-2015-103684
P932PMC publication ID4941158
P698PubMed publication ID26989089

P50authorLusi ZhangQ57032251
P2093author name stringWei Li
Ying Li
Kun Xia
Zhengmao Hu
Bing Wang
Yu Zheng
Yu Peng
Hui Guo
Di Tian
Yuliang Dai
Xinqiang Lan
YaWei Li
P2860cites workThe Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing dataQ27860742
The Sequence Alignment/Map format and SAMtoolsQ27860966
Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11Q28208125
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing dataQ29547161
Fast and accurate long-read alignment with Burrows-Wheeler transformQ29547193
A framework for variation discovery and genotyping using next-generation DNA sequencing dataQ29547262
Functional variants of POC5 identified in patients with idiopathic scoliosisQ30628365
Spinal muscle in scoliosis. Part 2. The proportion and size of type 1 and type 2 skeletal muscle fibres measured using a computer-controlled microscopeQ31995614
Segregation analysis of idiopathic scoliosis: demonstration of a major gene effectQ33874747
Abnormal response of the proliferation and differentiation of growth plate chondrocytes to melatonin in adolescent idiopathic scoliosis.Q34358552
Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.Q34627021
Adolescent idiopathic scoliosis and genetic testingQ35015248
CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.Q35752651
Constitutive protein kinase A activity in osteocytes and late osteoblasts produces an anabolic effect on boneQ36950027
A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3.Q37218363
Scoliosis: incidence and natural history. A prospective epidemiological studyQ43433496
Melatonin signaling dysfunction in adolescent idiopathic scoliosisQ45012799
Abnormal peri-pubertal anthropometric measurements and growth pattern in adolescent idiopathic scoliosis: a study of 598 patientsQ47614478
Familial idiopathic scoliosis: evidence of an X-linked susceptibility locusQ48028860
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.Q48288241
A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis.Q50998791
Relative Shortening and Functional Tethering of Spinal Cord in Adolescent Idiopathic Scoliosis?Q57955069
Relative anterior spinal overgrowth in adolescent idiopathic scoliosisQ57955075
Adolescent idiopathic scoliosisQ77960852
Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtelQ81431632
P433issue7
P407language of work or nameEnglishQ1860
P921main subjectscoliosisQ174857
teenagerQ1492760
adolescent idiopathic scoliosisQ55950311
P304page(s)488-493
P577publication date2016-03-17
P1433published inJournal of Medical GeneticsQ14640281
P1476titleAKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis
P478volume53

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cites work (P2860)
Q42678864AKAP2 is upregulated in ovarian cancer, and promotes growth and migration of cancer cells
Q36083838Associations of LBX1 gene and adolescent idiopathic scoliosis susceptibility: a meta-analysis based on 34,626 subjects
Q57173968Idiopathic Scoliosis Families Highlight Actin-Based and Microtubule-Based Cellular Projections and Extracellular Matrix in Disease Etiology
Q92309168Investigating Role of IRX Family in Development of Female Adolescent Idiopathic Scoliosis: Which One Is Real Cause?
Q38637631Lack of association between AKAP2 and the susceptibility of adolescent idiopathic scoliosis in the Chinese population
Q49693707Polymorphisms/Mutations in A-Kinase Anchoring Proteins (AKAPs): Role in the Cardiovascular System
Q47320554Rare coding variants in MAPK7 predispose to adolescent idiopathic scoliosis
Q92542662Whole-Genome Methylation Analysis of Phenotype Discordant Monozygotic Twins Reveals Novel Epigenetic Perturbation Contributing to the Pathogenesis of Adolescent Idiopathic Scoliosis

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