메뉴 건너뛰기




Volumn 34, Issue 10, 2010, Pages 1528-1543

Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and X-linked intestinal pseudo-obstruction

Author keywords

filamin; malformation; muscularis propria; myopathy; pseudo obstruction; x linked

Indexed keywords

ACTIN BINDING PROTEIN; CONTRACTILE PROTEIN; FILAMINS;

EID: 77957902050     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0b013e3181f0ae47     Document Type: Article
Times cited : (57)

References (49)
  • 1
    • 0029912523 scopus 로고    scopus 로고
    • The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28
    • Auricchio A, Brancolini V, Casari G, et al. The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28. Am J Hum Genet. 1996;58:743-748.
    • (1996) Am J Hum Genet , vol.58 , pp. 743-748
    • Auricchio, A.1    Brancolini, V.2    Casari, G.3
  • 2
    • 0027141996 scopus 로고
    • Expression of the cytoskeletal-associated protein filamin in adult rat organs
    • Brown KD, Binder LI. Expression of the cytoskeletal-associated protein filamin in adult rat organs. Exp Cell Res. 1993;209:325-332.
    • (1993) Exp Cell Res , vol.209 , pp. 325-332
    • Brown, K.D.1    Binder, L.I.2
  • 3
    • 4544314459 scopus 로고    scopus 로고
    • Congenital short bowel syndrome with malrotation
    • Chu SM, Luo CC, Chou YH, et al. Congenital short bowel syndrome with malrotation. Chang Gung Med J. 2004;27:548-550.
    • (2004) Chang Gung Med J , vol.27 , pp. 548-550
    • Chu, S.M.1    Luo, C.C.2    Chou, Y.H.3
  • 4
    • 62849114217 scopus 로고    scopus 로고
    • Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance
    • Clayton-Smith J, Walters S, Hobson E, et al. Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. Eur J Hum Genet. 2009;17:434-443.
    • (2009) Eur J Hum Genet , vol.17 , pp. 434-443
    • Clayton-Smith, J.1    Walters, S.2    Hobson, E.3
  • 5
    • 0030909311 scopus 로고    scopus 로고
    • A patient with congenital short small bowel associated with malrotation
    • De Backer AI, Parizel PM, De Schepper A, et al. A patient with congenital short small bowel associated with malrotation. J Belge Radiol. 1997;80:71-72.
    • (1997) J Belge Radiol , vol.80 , pp. 71-72
    • De Backer, A.I.1    Parizel, P.M.2    De Schepper, A.3
  • 6
    • 0022589638 scopus 로고
    • Case of congenital short small intestine: Survival with use of long-term parenteral feeding
    • Dorney SF, Byrne WJ, Ament ME. Case of congenital short small intestine: survival with use of long-term parenteral feeding. Pediatrics. 1986;77:386-389.
    • (1986) Pediatrics , vol.77 , pp. 386-389
    • Dorney, S.F.1    Byrne, W.J.2    Ament, M.E.3
  • 7
    • 0035150263 scopus 로고    scopus 로고
    • Congenital short-bowel and malrotation: Clinical presentation and outcome of six affected offspring in three related families
    • Erez I, Reish O, Kovalivker M, et al. Congenital short-bowel and malrotation: clinical presentation and outcome of six affected offspring in three related families. Eur J Pediatr Surg. 2001;11:331-334.
    • (2001) Eur J Pediatr Surg , vol.11 , pp. 331-334
    • Erez, I.1    Reish, O.2    Kovalivker, M.3
  • 8
    • 0025613652 scopus 로고
    • Neuromuscular structures specific to the submucosal border of the human colonic circular muscle layer
    • Faussone-Pellegrini MS, Cortesini C, Pantalone D. Neuromuscular structures specific to the submucosal border of the human colonic circular muscle layer. Can J Physiol Pharmacol. 1990;68:1437-1446.
    • (1990) Can J Physiol Pharmacol , vol.68 , pp. 1437-1446
    • Faussone-Pellegrini, M.S.1    Cortesini, C.2    Pantalone, D.3
  • 9
    • 33845959978 scopus 로고    scopus 로고
    • Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis
    • Feng Y, Chen MH, Moskowitz IP, et al. Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis. Proc Natl Acad Sci \USA. 2006;103:19836-19841.
    • (2006) Proc Natl Acad Sci \USA , vol.103 , pp. 19836-19841
    • Feng, Y.1    Chen, M.H.2    Moskowitz, I.P.3
  • 10
    • 0030741120 scopus 로고    scopus 로고
    • Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X-linked recessive disorder
    • FitzPatrick DR, Stain L, Thomas AE, et al. Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X-linked recessive disorder. J Med Genet. 1997;34:666-669.
    • (1997) J Med Genet , vol.34 , pp. 666-669
    • Fitz Patrick, D.R.1    Stain, L.2    Thomas, A.E.3
  • 11
    • 0032422555 scopus 로고    scopus 로고
    • Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periven-tricualr heterotopia
    • Fox JW, Lamperti ED, Eksioglu YZ, et al. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periven-tricualr heterotopia. Neuron. 1998;21:1315-1325.
    • (1998) Neuron , vol.21 , pp. 1315-1325
    • Fox, J.W.1    Lamperti, E.D.2    Eksioglu, Y.Z.3
  • 12
    • 34147130212 scopus 로고    scopus 로고
    • Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement
    • Gargiulo A, Auricchio R, Barone MV, et al. Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. Am J Hum Genet. 2007;80:751-758.
    • (2007) Am J Hum Genet , vol.80 , pp. 751-758
    • Gargiulo, A.1    Auricchio, R.2    Barone, M.V.3
  • 13
    • 3242705773 scopus 로고    scopus 로고
    • Germline and mosaic mutations of FLN1 in men with periventricular heterotopia
    • Guerrini R, Mei D, Sisodiya S, et al. Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. Neurology. 2004;63:51-56.
    • (2004) Neurology , vol.63 , pp. 51-56
    • Guerrini, R.1    Mei, D.2    Sisodiya, S.3
  • 14
    • 0014440171 scopus 로고
    • Short small intestine associated with malrotation: A newly described congenital cause of intestinal malabsorption
    • Hamilton JR, Reilly BJ, Morecki R. Short small intestine associated with malrotation: a newly described congenital cause of intestinal malabsorption. Gastroenterology. 1969;56:124-136.
    • (1969) Gastroenterology , vol.56 , pp. 124-136
    • Hamilton, J.R.1    Reilly, B.J.2    Morecki, R.3
  • 15
    • 0017160339 scopus 로고
    • Natal teeth, patent ductus arteriosus and intestinal pseudo-obstruction: A lethal syndrome in the newborn
    • Harris DJ, Ashcraft KW, Beatty EC, et al. Natal teeth, patent ductus arteriosus and intestinal pseudo-obstruction: a lethal syndrome in the newborn. Clin Genet. 1976;9:479-482.
    • (1976) Clin Genet , vol.9 , pp. 479-482
    • Harris, D.J.1    Ashcraft, K.W.2    Beatty, E.C.3
  • 16
    • 0343471412 scopus 로고    scopus 로고
    • An extra-ordinary cause of megacolon
    • Hart AL, Kamm MA, Palmer JG, et al. An extra-ordinary cause of megacolon. Lancet. 1997;350:110.
    • (1997) Lancet , vol.350 , pp. 110
    • Hart, A.L.1    Kamm, M.A.2    Palmer, J.G.3
  • 17
    • 40749092007 scopus 로고    scopus 로고
    • Congenital short bowel syndrome: A case report and review of the literature
    • Hasosah M, Lemberg DA, Skarsgard E, et al. Congenital short bowel syndrome: a case report and review of the literature. Can J Gastroenterol. 2008;22:71-74.
    • (2008) Can J Gastroenterol , vol.22 , pp. 71-74
    • Hasosah, M.1    Lemberg, D.A.2    Skarsgard, E.3
  • 18
    • 33745275563 scopus 로고    scopus 로고
    • A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome
    • Hehr U, Hehr A, Uyanik G, et al. A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. J Med Genet. 2006;43:541-544.
    • (2006) J Med Genet , vol.43 , pp. 541-544
    • Hehr, U.1    Hehr, A.2    Uyanik, G.3
  • 19
    • 0037457811 scopus 로고    scopus 로고
    • The limits of promiscuity: Isoform-specific dimerization of filamins
    • Himmel M, Van Der Ven PF, Stocklein W, et al. The limits of promiscuity: isoform-specific dimerization of filamins. Biochemistry. 2003;42:430-439.
    • (2003) Biochemistry , vol.42 , pp. 430-439
    • Himmel, M.1    Van Der Ven, P.F.2    Stocklein, W.3
  • 20
    • 0029907665 scopus 로고    scopus 로고
    • Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4
    • Hou JW, Wang TR. Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4. J Med Genet. 1996;33: 879-881.
    • (1996) J Med Genet , vol.33 , pp. 879-881
    • Hou, J.W.1    Wang, T.R.2
  • 21
    • 0025967436 scopus 로고
    • Long-term survival of a patient with congenital short bowel and malrotation
    • Huysman WA, Tibboel D, Bergmeijer JH, et al. Long-term survival of a patient with congenital short bowel and malrotation. J Pediatr Surg. 1991;26:103-105.
    • (1991) J Pediatr Surg , vol.26 , pp. 103-105
    • Huysman, W.A.1    Tibboel, D.2    Bergmeijer, J.H.3
  • 22
    • 0022407778 scopus 로고
    • Congenital short small bowel with malrotation in a neonate
    • Iwai N, Yanagihara J, Tsuto T, et al. Congenital short small bowel with malrotation in a neonate. Z Kinderchir. 1985;40:371-373.
    • (1985) Z Kinderchir , vol.40 , pp. 371-373
    • Iwai, N.1    Yanagihara, J.2    Tsuto, T.3
  • 23
    • 77957944041 scopus 로고    scopus 로고
    • Pathology of intestinal motor disorders in children
    • In press
    • Kapur RP. Pathology of intestinal motor disorders in children. Surg Pathol Clin. 2010. In press
    • (2010) Surg Pathol Clin.
    • Kapur, R.P.1
  • 24
    • 63449107877 scopus 로고    scopus 로고
    • Architectural malformation of the muscularis propria as a cause for intestinal pseudo-obstruction: Two cases and a review of the literature
    • Kapur RP, Correa H. Architectural malformation of the muscularis propria as a cause for intestinal pseudo-obstruction: two cases and a review of the literature. Pediatr Dev Pathol. 2009;12:156-164.
    • (2009) Pediatr Dev Pathol , vol.12 , pp. 156-164
    • Kapur, R.P.1    Correa, H.2
  • 25
    • 0025081867 scopus 로고
    • Congenital short gut, malrotation, and dysmotility of the small bowel
    • Kern IB, Leece A, Bohane T. Congenital short gut, malrotation, and dysmotility of the small bowel. J Pediatr Gastroenterol Nutr. 1990; 11:411-415.
    • (1990) J Pediatr Gastroenterol Nutr , vol.11 , pp. 411-415
    • Kern, I.B.1    Leece, A.2    Bohane, T.3
  • 26
    • 77953983715 scopus 로고    scopus 로고
    • The London Classification of gastrointestinal neuromuscular pathology: Report on behalf of the Gastro 2009 International Working Group
    • Knowles CH, De Georgio R, Kapur RP, et al. The London Classification of gastrointestinal neuromuscular pathology: report on behalf of the Gastro 2009 International Working Group. Gut. 2010;59:882-887.
    • (2010) Gut , vol.59 , pp. 882-887
    • Knowles, C.H.1    De Georgio, R.2    Kapur, R.P.3
  • 27
    • 0014866689 scopus 로고
    • Congenital short small intestine: A rare occurrence
    • Konvolinka CW. Congenital short small intestine: a rare occurrence. J Pediatr Surg. 1970;5:574.
    • (1970) J Pediatr Surg , vol.5 , pp. 574
    • Konvolinka, C.W.1
  • 28
    • 66149127664 scopus 로고    scopus 로고
    • Heterogeneities in ICC Ca2+ activity within canine large intestine
    • Lee HT, Hennig GW, Park KJ, et al. Heterogeneities in ICC Ca2+ activity within canine large intestine. Gastroenterology. 2009;136: 2226-2236.
    • (2009) Gastroenterology , vol.136 , pp. 2226-2236
    • Lee, H.T.1    Hennig, G.W.2    Park, K.J.3
  • 29
    • 14844348294 scopus 로고    scopus 로고
    • Evolutionarily conserved human targets of adenosine to inosine RNA editing
    • Levanon EY, Hallegger M, Kinar Y, et al. Evolutionarily conserved human targets of adenosine to inosine RNA editing. Nucleic Acids Res. 2005;33:1162-1168.
    • (2005) Nucleic Acids Res , vol.33 , pp. 1162-1168
    • Levanon, E.Y.1    Hallegger, M.2    Kinar, Y.3
  • 31
    • 0034611016 scopus 로고    scopus 로고
    • Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion
    • Lu QL, Morris GE, Wilton SD, et al. Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion. J Cell Biol. 2000;148:985-996.
    • (2000) J Cell Biol , vol.148 , pp. 985-996
    • Lu, Q.L.1    Morris, G.E.2    Wilton, S.D.3
  • 32
    • 0031822321 scopus 로고    scopus 로고
    • Special smooth muscle cells along the submucosal surface of the guinea pig colon with reference to its spontaneous contractions
    • Nahar NS, Torihashi S, Iino S, et al. Special smooth muscle cells along the submucosal surface of the guinea pig colon with reference to its spontaneous contractions. Cell Tissue Res. 1998;293:143-154.
    • (1998) Cell Tissue Res , vol.293 , pp. 143-154
    • Nahar, N.S.1    Torihashi, S.2    Iino, S.3
  • 33
    • 0017049228 scopus 로고
    • Familial syndrome combining short small intestine, intestinal malrotation, pyloric hypertrophy and brain malformation: 3 anatomoclinical case reports
    • Nezelof C, Jaubert F, Lyon G. Familial syndrome combining short small intestine, intestinal malrotation, pyloric hypertrophy and brain malformation: 3 anatomoclinical case reports. Ann Anat Pathol (Paris). 1976;21:401-412.
    • (1976) Ann Anat Pathol (Paris) , vol.21 , pp. 401-412
    • Nezelof, C.1    Jaubert, F.2    Lyon, G.3
  • 34
    • 0025923853 scopus 로고
    • Congenital intestinal pseudo-obstruction associated with a giant platelet disorder
    • Pollock I, Holmes SJ, Patton MA, et al. Congenital intestinal pseudo-obstruction associated with a giant platelet disorder. J Med Genet. 1991;28:495-496.
    • (1991) J Med Genet , vol.28 , pp. 495-496
    • Pollock, I.1    Holmes, S.J.2    Patton, M.A.3
  • 35
  • 36
    • 19444368524 scopus 로고    scopus 로고
    • Filamin A: Phenotypic diversity
    • Robertson SP. Filamin A: phenotypic diversity. Curr Opin Genet Dev. 2005;15:301-307.
    • (2005) Curr Opin Genet Dev , vol.15 , pp. 301-307
    • Robertson, S.P.1
  • 37
    • 0016378685 scopus 로고
    • Le syndrome familial de grele court avec malrotation intestinale et stenose hypertrophique du pylore chez le nourrisson
    • Royer P, Ricour C, Nihoul-Fekete C, et al. Le syndrome familial de grele court avec malrotation intestinale et stenose hypertrophique du pylore chez le nourrisson. Arch Fr Pediatr. 1974;31:223-229.
    • (1974) Arch Fr Pediatr , vol.31 , pp. 223-229
    • Royer, P.1    Ricour, C.2    Nihoul-Fekete, C.3
  • 38
    • 0030894731 scopus 로고    scopus 로고
    • Diagnosis and treatment of chronic intestinal pseudo-obstruction in children: Report of a consensus workshop
    • Rudolph CD, Hyman PE, Altschuler SM, et al. Diagnosis and treatment of chronic intestinal pseudo-obstruction in children: report of a consensus workshop. J Pediatr Gastroenterol Nutr. 1997;24:102-112.
    • (1997) J Pediatr Gastroenterol Nutr , vol.24 , pp. 102-112
    • Rudolph, C.D.1    Hyman, P.E.2    Altschuler, S.M.3
  • 39
    • 30944432542 scopus 로고    scopus 로고
    • Interstitial cells of Cajal as pacemakers in the gastrointestinal tract
    • Sanders KM, Koh SD, Ward SM. Interstitial cells of Cajal as pacemakers in the gastrointestinal tract. Annu Rev Physiol. 2006; 68:307-343.
    • (2006) Annu Rev Physiol , vol.68 , pp. 307-343
    • Sanders, K.M.1    Koh, S.D.2    Ward, S.M.3
  • 40
    • 0021268320 scopus 로고
    • Familial congenital short small bowel with associated defects: A long-term survival
    • Sansaricq C, Chen WJ, Manka M, et al. Familial congenital short small bowel with associated defects: a long-term survival. Clin Pediatr (Phila). 1984;23:453-455.
    • (1984) Clin Pediatr (Phila) , vol.23 , pp. 453-455
    • Sansaricq, C.1    Chen, W.J.2    Manka, M.3
  • 41
    • 0031923154 scopus 로고    scopus 로고
    • Congenital short bowel syndrome associated with appendiceal agenesis and functional intestinal obstruction
    • Sarimurat N, Celayir S, Elicevik M, et al. Congenital short bowel syndrome associated with appendiceal agenesis and functional intestinal obstruction. J Pediatr Surg. 1998;33:666-667.
    • (1998) J Pediatr Surg , vol.33 , pp. 666-667
    • Sarimurat, N.1    Celayir, S.2    Elicevik, M.3
  • 42
    • 0021262223 scopus 로고
    • Functional intestinal obstruction associated with malrotation and short small-bowel
    • Shawis RN, Rangecroft L, Cook RC, et al. Functional intestinal obstruction associated with malrotation and short small-bowel. J Pediatr Surg. 1984;19:172-173.
    • (1984) J Pediatr Surg , vol.19 , pp. 172-173
    • Shawis, R.N.1    Rangecroft, L.2    Cook, R.C.3
  • 43
    • 0018852538 scopus 로고
    • Small-intestine length in infants and children
    • Siebert JR. Small-intestine length in infants and children. Am J Dis Child. 1980;134:593-595.
    • (1980) Am J Dis Child , vol.134 , pp. 593-595
    • Siebert, J.R.1
  • 44
    • 0030849644 scopus 로고    scopus 로고
    • Histological phenotypes of enteric smooth muscle disease causing functional intestinal obstruction in childhood
    • Smith VV, Milla PJ. Histological phenotypes of enteric smooth muscle disease causing functional intestinal obstruction in childhood. Histopathology. 1997;31:112-122.
    • (1997) Histopathology , vol.31 , pp. 112-122
    • Smith, V.V.1    Milla, P.J.2
  • 45
    • 0035259681 scopus 로고    scopus 로고
    • Filamins as integrators of cell mechanics and signalling
    • Stossel TP, Condeelis J, Cooley L, et al. Filamins as integrators of cell mechanics and signalling. Nat Rev Mol Cell Biol. 2001;2:138-145.
    • (2001) Nat Rev Mol Cell Biol , vol.2 , pp. 138-145
    • Stossel, T.P.1    Condeelis, J.2    Cooley, L.3
  • 46
    • 0017202811 scopus 로고
    • Functional intestinal obstruction due to deficiency of argyrophil neurones in the myenteric plexus
    • Tanner MS, Smith B, Lloyd JK. Functional intestinal obstruction due to deficiency of argyrophil neurones in the myenteric plexus. Arch Dis Child. 1976;51:837-841.
    • (1976) Arch Dis Child , vol.51 , pp. 837-841
    • Tanner, M.S.1    Smith, B.2    Lloyd, J.K.3
  • 47
  • 48
    • 0015899036 scopus 로고
    • Congenital short intestine: A case report and review of the literature
    • Yutani C, Sakurai M, Miyaji T, et al. Congenital short intestine: a case report and review of the literature. Arch Pathol. 1973;96:81-82.
    • (1973) Arch Pathol , vol.96 , pp. 81-82
    • Yutani, C.1    Sakurai, M.2    Miyaji, T.3
  • 49
    • 75149145088 scopus 로고    scopus 로고
    • Filamins in cell signaling, transcription and organ development
    • Zhou AX, Hartwig JH, Akyurek LM. Filamins in cell signaling, transcription and organ development. Trends Cell Biol. 2010;20:113-123.
    • (2010) Trends Cell Biol. , vol.20 , pp. 113-123
    • Zhou, A.X.1    Hartwig, J.H.2    Akyurek, L.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.