Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.
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Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA geneChronic intestinal pseudo-obstructionEnteric nervous system development: migration, differentiation, and diseaseExon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region.Review of genetic factors in intestinal malrotation.Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.A celiac cellular phenotype, with altered LPP sub-cellular distribution, is inducible in controls by the toxic gliadin peptide P31-43Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstructionThe dual role of filamin A in cancer: can't live with (too much of) it, can't live without it.Association of mutations in FLNA with craniosynostosis.MECP2 Duplication SyndromeFilamin A regulates neuronal migration through brefeldin A-inhibited guanine exchange factor 2-dependent Arf1 activation.Endocytosis and signaling: cell logistics shape the eukaryotic cell plan.Periventricular Heterotopia: Shuttling of Proteins through Vesicles and Actin in Cortical Development and DiseaseChronic intestinal pseudo-obstruction in children and adults: diagnosis and therapeutic options.Lung Transplantation for FLNA-Associated Progressive Lung Disease.A Novel Mutation in Nucleoporin 35 Causes Murine Degenerative Colonic Smooth Muscle Myopathy.Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstructionDifferential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.Familial intestinal degenerative neuropathy associated with chronic intestinal pseudo-obstruction.The MECP2 duplication syndrome.Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation.ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.Novel no-stop FLNA mutation causes multi-organ involvement in malesCauses and prognosis of chronic intestinal pseudo-obstruction in 48 subjects: A 10-year retrospective case seriesFLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature
P2860
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P2860
Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Filamin A is mutated in X-link ...... al nervous system involvement.
@ast
Filamin A is mutated in X-link ...... al nervous system involvement.
@en
type
label
Filamin A is mutated in X-link ...... al nervous system involvement.
@ast
Filamin A is mutated in X-link ...... al nervous system involvement.
@en
prefLabel
Filamin A is mutated in X-link ...... al nervous system involvement.
@ast
Filamin A is mutated in X-link ...... al nervous system involvement.
@en
P2093
P2860
P50
P356
P1476
Filamin A is mutated in X-link ...... al nervous system involvement.
@en
P2093
Alfredo Ciccodicola
Annagiusi Gargiulo
Gabriella Cotugno
Peter J Milla
Renata Auricchio
William Reardon
P2860
P304
P356
10.1086/513321
P407
P577
2007-02-26T00:00:00Z