메뉴 건너뛰기




Volumn 79, Issue 5, 2011, Pages 482-488

Potential amelioration of morbidity in patients with chromosomal anomalies: Relevance to Bardet-Biedl syndrome

Author keywords

Bardet; Biedl syndrome; Chromosomal anomaly; Nutrition

Indexed keywords

5 HYDROXYTRYPTOPHAN; ARGININE; FOLIC ACID; SEROTONIN UPTAKE INHIBITOR; TYROSINE; UBIDECARENONE; VITAMIN B COMPLEX;

EID: 79953733511     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01475.x     Document Type: Article
Times cited : (6)

References (51)
  • 1
    • 0001827184 scopus 로고
    • Four cases of retinitis pigmentosa occurring in the same family accompanied by general imperfection of development.
    • Laurence J, Moon RC. Four cases of retinitis pigmentosa occurring in the same family accompanied by general imperfection of development. Opthalamol Rev 1866: 2: 32-41.
    • (1866) Opthalamol Rev , vol.2 , pp. 32-41
    • Laurence, J.1    Moon, R.C.2
  • 2
    • 79953754264 scopus 로고
    • Sur un syndrome d'obesite congenitale avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis no. 470, Paris, France: Universite de Paris, Amedee LeGrand.
    • Bardet G. Sur un syndrome d'obesite congenitale avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis no. 470, Paris, France: Universite de Paris, Amedee LeGrand, 1920.
    • (1920)
    • Bardet, G.1
  • 3
    • 0001539825 scopus 로고
    • Ein Geschwitsterpaar mit adipose-genitaler Dystrophie
    • Biedl A. Ein Geschwitsterpaar mit adipose-genitaler Dystrophie. Dtsch Med Wochenschr 1922: 48: 1630.
    • (1922) Dtsch Med Wochenschr , vol.48 , pp. 1630
    • Biedl, A.1
  • 4
    • 0024472754 scopus 로고
    • The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome
    • Green JS, Parfrey PS Harnett JD et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 1989: 321 (15): 1002-1009.
    • (1989) N Engl J Med , vol.321 , Issue.15 , pp. 1002-1009
    • Green, J.S.1    Parfrey, P.S.2    Harnett, J.D.3
  • 5
    • 0031040854 scopus 로고    scopus 로고
    • Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families
    • Beales PL, Warner AM, Hirman GA, Thakker R, Flinter FA. Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. J Med Genet 1997: 34 (2): 92-98.
    • (1997) J Med Genet , vol.34 , Issue.2 , pp. 92-98
    • Beales, P.L.1    Warner, A.M.2    Hirman, G.A.3    Thakker, R.4    Flinter, F.A.5
  • 6
    • 0033062278 scopus 로고    scopus 로고
    • New criteria from improved diagnosis of Bardet-Biedl syndrome: results of a population survey
    • Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria from improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 1999: 36 (6): 437-446.
    • (1999) J Med Genet , vol.36 , Issue.6 , pp. 437-446
    • Beales, P.L.1    Elcioglu, N.2    Woolf, A.S.3    Parker, D.4    Flinter, F.A.5
  • 8
    • 70449725289 scopus 로고    scopus 로고
    • Clinical spectrum of Bardet-Biedl syndrome among four Saudi Arabian families
    • Cherian MP, Al-Sanna'a NA. Clinical spectrum of Bardet-Biedl syndrome among four Saudi Arabian families. Clin Dysmorphol 2009: 18 (4): 188-194.
    • (2009) Clin Dysmorphol , vol.18 , Issue.4 , pp. 188-194
    • Cherian, M.P.1    Al-Sanna'a, N.A.2
  • 9
    • 0014605392 scopus 로고
    • The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies.
    • Klein D, Ammann F. The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies. J Neurol Sci 1969: 9 (3): 479-513.
    • (1969) J Neurol Sci , vol.9 , Issue.3 , pp. 479-513
    • Klein, D.1    Ammann, F.2
  • 10
    • 0023852163 scopus 로고
    • Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population
    • Farag TI, Teebi AS. Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population. Clin Genet 1988: 33 (2): 78-82.
    • (1988) Clin Genet , vol.33 , Issue.2 , pp. 78-82
    • Farag, T.I.1    Teebi, A.S.2
  • 11
    • 0024366485 scopus 로고
    • High incidence of Bardet-Biedl syndrome among the Bedouin
    • Farag TI, Teebi AS. High incidence of Bardet-Biedl syndrome among the Bedouin. Clin Genet 1989: 36 (6): 463-464.
    • (1989) Clin Genet , vol.36 , Issue.6 , pp. 463-464
    • Farag, T.I.1    Teebi, A.S.2
  • 12
    • 0035929273 scopus 로고    scopus 로고
    • Triallelic inheritance in Bardet-Biedl syndrome: a Mendelian recessive disorder
    • Katsanis N, Ansley SJ, Badano JL et al. Triallelic inheritance in Bardet-Biedl syndrome: a Mendelian recessive disorder. Science 2001: 293 (5538): 2256-2259.
    • (2001) Science , vol.293 , Issue.5538 , pp. 2256-2259
    • Katsanis, N.1    Ansley, S.J.2    Badano, J.L.3
  • 13
    • 0038744241 scopus 로고    scopus 로고
    • Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome
    • Beales PL, Badano JL, Ross AJ et al. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet 2003: 72 (5): 1187-1199.
    • (2003) Am J Hum Genet , vol.72 , Issue.5 , pp. 1187-1199
    • Beales, P.L.1    Badano, J.L.2    Ross, A.J.3
  • 14
    • 4444254983 scopus 로고    scopus 로고
    • Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
    • Kulaga HM, Leitch CC, Eichers ER et al. Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet 2004: 36 (9): 994-998.
    • (2004) Nat Genet , vol.36 , Issue.9 , pp. 994-998
    • Kulaga, H.M.1    Leitch, C.C.2    Eichers, E.R.3
  • 15
    • 9344261783 scopus 로고    scopus 로고
    • Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin
    • Nishimura DY, Fath M, Mullins RF et al. Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. Proc Natl Acad Sci U S A 2004: 101 (47): 16588-16593.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , Issue.47 , pp. 16588-16593
    • Nishimura, D.Y.1    Fath, M.2    Mullins, R.F.3
  • 16
    • 4444291840 scopus 로고    scopus 로고
    • Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome
    • Fan Y, Esmail MA, Ansley SJ et al. Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Nat Genet 2004: 36 (9): 989-993.
    • (2004) Nat Genet , vol.36 , Issue.9 , pp. 989-993
    • Fan, Y.1    Esmail, M.A.2    Ansley, S.J.3
  • 17
    • 20244381625 scopus 로고    scopus 로고
    • The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression
    • Kim JC, Badano JL, Sibold S et al. The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Nat Genet 2004: 36 (5): 462-470.
    • (2004) Nat Genet , vol.36 , Issue.5 , pp. 462-470
    • Kim, J.C.1    Badano, J.L.2    Sibold, S.3
  • 18
    • 2342501364 scopus 로고    scopus 로고
    • Comparative genomics identifies a flagellar and basal body proteome that Includes the BBS5 human disease gene
    • Li JB, Gerdes JM, Haycraft C et al. Comparative genomics identifies a flagellar and basal body proteome that Includes the BBS5 human disease gene. Cell 2004: 117 (4): 541-552.
    • (2004) Cell , vol.117 , Issue.4 , pp. 541-552
    • Li, J.B.1    Gerdes, J.M.2    Haycraft, C.3
  • 19
    • 20144386878 scopus 로고    scopus 로고
    • MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis
    • Kim JC, Ou YY, Badano JL et al. MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. J Cell Sci 2005: 118 (5): 1007-1020.
    • (2005) J Cell Sci , vol.118 , Issue.5 , pp. 1007-1020
    • Kim, J.C.1    Ou, Y.Y.2    Badano, J.L.3
  • 20
    • 3042738924 scopus 로고    scopus 로고
    • Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport.
    • Blacque OE, Reardon MJ, Li C et al. Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes Dev 2004: 18 (13): 1630-1642.
    • (2004) Genes Dev , vol.18 , Issue.13 , pp. 1630-1642
    • Blacque, O.E.1    Reardon, M.J.2    Li, C.3
  • 21
    • 28144460266 scopus 로고    scopus 로고
    • Comparative genomics and gene expression analysis identifies BBS9: a new Bardet-Biedl syndrome gene
    • Nishimura DY, Swiderski RE, Searby CC et al. Comparative genomics and gene expression analysis identifies BBS9: a new Bardet-Biedl syndrome gene. Am J Hum Genet 2005: 77 (6): 1021-1033.
    • (2005) Am J Hum Genet , vol.77 , Issue.6 , pp. 1021-1033
    • Nishimura, D.Y.1    Swiderski, R.E.2    Searby, C.C.3
  • 22
    • 33646354641 scopus 로고    scopus 로고
    • BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
    • Stoetzel C, Laurier V, Davis EE et al. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet 2006: 38 (5): 521-524.
    • (2006) Nat Genet , vol.38 , Issue.5 , pp. 521-524
    • Stoetzel, C.1    Laurier, V.2    Davis, E.E.3
  • 23
    • 33646562887 scopus 로고    scopus 로고
    • Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)
    • Chiang AP, Beck JS, Yen HJ et al. Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc Natl Acad Sci U S A 2006: 103 (16): 6287-6292.
    • (2006) Proc Natl Acad Sci U S A , vol.103 , Issue.16 , pp. 6287-6292
    • Chiang, A.P.1    Beck, J.S.2    Yen, H.J.3
  • 24
    • 33845995129 scopus 로고    scopus 로고
    • Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome
    • Stoetzel C, Muller J, Laurier V et al. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet 2007: 80 (1): 1-11.
    • (2007) Am J Hum Genet , vol.80 , Issue.1 , pp. 1-11
    • Stoetzel, C.1    Muller, J.2    Laurier, V.3
  • 25
    • 41349103272 scopus 로고    scopus 로고
    • Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
    • Leitch CC. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet 2008: 40 (4): 443-448.
    • (2008) Nat Genet , vol.40 , Issue.4 , pp. 443-448
    • Leitch, C.C.1
  • 26
    • 34249978500 scopus 로고    scopus 로고
    • Bardet-Biedl syndrome: beyond the cilium
    • Tobin JL, Beales PL. Bardet-Biedl syndrome: beyond the cilium. Pediatr Nephrol 2007: 22 (7): 926-936.
    • (2007) Pediatr Nephrol , vol.22 , Issue.7 , pp. 926-936
    • Tobin, J.L.1    Beales, P.L.2
  • 27
    • 65649147891 scopus 로고    scopus 로고
    • Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy
    • Zaghloul NA, Katsanis N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest 2009: 119 (3): 428-437.
    • (2009) J Clin Invest , vol.119 , Issue.3 , pp. 428-437
    • Zaghloul, N.A.1    Katsanis, N.2
  • 28
    • 4444254983 scopus 로고    scopus 로고
    • Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
    • Kulaga HM, Leitch CC, Eichers ER et al. Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet 2004: 36 (9): 994-998.
    • (2004) Nat Genet , vol.36 , Issue.9 , pp. 994-998
    • Kulaga, H.M.1    Leitch, C.C.2    Eichers, E.R.3
  • 29
    • 36849090468 scopus 로고    scopus 로고
    • Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function
    • Tan PL, Barr T, Inglis PN et al. Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function. Proc Natl Acad Sci U S A 2007: 104 (44): 17524-17529.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , Issue.44 , pp. 17524-17529
    • Tan, P.L.1    Barr, T.2    Inglis, P.N.3
  • 30
    • 57049134594 scopus 로고    scopus 로고
    • Bardet-Biedl syndrome.
    • Rooryck C, Lacombe D. Bardet-Biedl syndrome. Ann Endocrinol 2008: 69 (6): 463-471.
    • (2008) Ann Endocrinol , vol.69 , Issue.6 , pp. 463-471
    • Rooryck, C.1    Lacombe, D.2
  • 31
    • 33846027144 scopus 로고    scopus 로고
    • Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family
    • Deffert C, Niel F, Mochel F et al. Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family. Am J Med Genet A 2007: 143 (2): 208-213.
    • (2007) Am J Med Genet A , vol.143 , Issue.2 , pp. 208-213
    • Deffert, C.1    Niel, F.2    Mochel, F.3
  • 32
    • 0029665986 scopus 로고    scopus 로고
    • The cause of death in Laurence-Moon-Bardet-Biedl syndrome.
    • Riise R. The cause of death in Laurence-Moon-Bardet-Biedl syndrome. Acta Opthalmol Scand Suppl 1996: 219: 45-47.
    • (1996) Acta Opthalmol Scand Suppl , vol.219 , pp. 45-47
    • Riise, R.1
  • 33
    • 0035122903 scopus 로고    scopus 로고
    • Bardet-Biedl syndrome: aspects of nephro-urology and human genetics
    • Brühl P, Schwanitz G, Mallmann R, Müller SC, Raff R. Bardet-Biedl syndrome: aspects of nephro-urology and human genetics. Klin Padiatr 2001: 213 (1): 8-12.
    • (2001) Klin Padiatr , vol.213 , Issue.1 , pp. 8-12
    • Brühl, P.1    Schwanitz, G.2    Mallmann, R.3    Müller, S.C.4    Raff, R.5
  • 34
    • 5644227333 scopus 로고    scopus 로고
    • Renal failure due to Bardet-Biedl syndrome. A case report.
    • Ulusoy S, Kaynar K, Gul S, Ukinc K. Renal failure due to Bardet-Biedl syndrome. A case report. Med Princ Pract 2004: 13 (6): 380-382.
    • (2004) Med Princ Pract , vol.13 , Issue.6 , pp. 380-382
    • Ulusoy, S.1    Kaynar, K.2    Gul, S.3    Ukinc, K.4
  • 35
    • 67649105632 scopus 로고    scopus 로고
    • Laurence-Moon-Bardet-Biedl syndrome.
    • Sahu JK, Jain V. Laurence-Moon-Bardet-Biedl syndrome. J Nepal Med Assoc 2008: 47 (172): 235-237.
    • (2008) J Nepal Med Assoc , vol.47 , Issue.172 , pp. 235-237
    • Sahu, J.K.1    Jain, V.2
  • 36
    • 77957297017 scopus 로고    scopus 로고
    • Laurence Moon Bardet Biedl Syndrome
    • Abdulla AB, Niloy AA, Shah TA et al. Laurence Moon Bardet Biedl Syndrome. Mymensingh Med J 2009: 18 (Suppl. 1): S124-S128.
    • (2009) Mymensingh Med J , vol.18 , Issue.SUPPL. 1
    • Abdulla, A.B.1    Niloy, A.A.2    Shah, T.A.3
  • 37
    • 73949114570 scopus 로고    scopus 로고
    • Roux-en-Y gastric bypass in an adolescent patient with Bardet-Biedl syndrome: a monogenic obesity disorder
    • Daskalakis M, Till H, Kiess W, Weiner RA. Roux-en-Y gastric bypass in an adolescent patient with Bardet-Biedl syndrome: a monogenic obesity disorder. Obes Surg 2010: 20 (1): 121-125.
    • (2010) Obes Surg , vol.20 , Issue.1 , pp. 121-125
    • Daskalakis, M.1    Till, H.2    Kiess, W.3    Weiner, R.A.4
  • 38
    • 34547428536 scopus 로고    scopus 로고
    • Renal transplantation in patients with Bardet-Biedl syndrome
    • Sharifman M, Dadkhah-Chimeh M, Einollahi B et al. Renal transplantation in patients with Bardet-Biedl syndrome. Arch Iran Med 2007: 10 (3): 339-342.
    • (2007) Arch Iran Med , vol.10 , Issue.3 , pp. 339-342
    • Sharifman, M.1    Dadkhah-Chimeh, M.2    Einollahi, B.3
  • 39
    • 45049084866 scopus 로고    scopus 로고
    • Medical practice and community health care in the 21st century: a time of change.
    • Genuis SJ. Medical practice and community health care in the 21st century: a time of change. Public Health 2008: 122 (7): 671-680.
    • (2008) Public Health , vol.122 , Issue.7 , pp. 671-680
    • Genuis, S.J.1
  • 41
    • 77955783943 scopus 로고    scopus 로고
    • Evolution in pediatric health care
    • DOI: 10.1111/j.1442-200X.2010.03106.x.
    • Genuis SJ. Evolution in pediatric health care. Pediatr Int 2010: DOI: 10.1111/j.1442-200X.2010.03106.x.
    • (2010) Pediatr Int
    • Genuis, S.J.1
  • 42
    • 33645773914 scopus 로고    scopus 로고
    • The chemical erosion of human health: adverse environmental exposure and in-utero pollution - determinants of congenital disorders and chronic disease
    • Genuis SJ. The chemical erosion of human health: adverse environmental exposure and in-utero pollution - determinants of congenital disorders and chronic disease. J Perinat Med 2006: 34: 185-195.
    • (2006) J Perinat Med , vol.34 , pp. 185-195
    • Genuis, S.J.1
  • 43
    • 33644852813 scopus 로고    scopus 로고
    • Arginine: beyond protein.
    • Morris SM Jr. Arginine: beyond protein. Am J Clin Nutr 2006: 83 (2): 508S-512S.
    • (2006) Am J Clin Nutr , vol.83 , Issue.2
    • Morris Jr., S.M.1
  • 44
    • 68849108683 scopus 로고    scopus 로고
    • l-Arginine signalling potential in the brain: the peripheral gets central.
    • Lameu C, de Camargo AC, Faria M. l-Arginine signalling potential in the brain: the peripheral gets central. Recent Pat CNS Drug Discov 2009: 4 (2): 137-142.
    • (2009) Recent Pat CNS Drug Discov , vol.4 , Issue.2 , pp. 137-142
    • Lameu, C.1    de Camargo, A.C.2    Faria, M.3
  • 47
    • 33751537194 scopus 로고    scopus 로고
    • Minireview: vitamin D receptor: new assignments for an already busy receptor.
    • Norman AW. Minireview: vitamin D receptor: new assignments for an already busy receptor. Endocrinology 2006: 147 (12): 5542-5548.
    • (2006) Endocrinology , vol.147 , Issue.12 , pp. 5542-5548
    • Norman, A.W.1
  • 48
    • 57549114876 scopus 로고    scopus 로고
    • Treatable fluctuating mental impairment in a patient with Bardet-Biedl syndrome
    • Tonomura Y, Hirano M, Shimada K et al. Treatable fluctuating mental impairment in a patient with Bardet-Biedl syndrome. Clin Neurol Neurosurg 2009: 111 (1): 102-104.
    • (2009) Clin Neurol Neurosurg , vol.111 , Issue.1 , pp. 102-104
    • Tonomura, Y.1    Hirano, M.2    Shimada, K.3
  • 50
    • 75649120758 scopus 로고    scopus 로고
    • Celiac disease presenting as autism.
    • Genuis SJ, Bouchard T. Celiac disease presenting as autism. J Child Neurol 2010: 25: 114-119.
    • (2010) J Child Neurol , vol.25 , pp. 114-119
    • Genuis, S.J.1    Bouchard, T.2
  • 51
    • 69749126466 scopus 로고    scopus 로고
    • Is autism reversible?
    • Genuis SJ. Is autism reversible? Acta Paediatr 2009: 98: 1575-1578.
    • (2009) Acta Paediatr , vol.98 , pp. 1575-1578
    • Genuis, S.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.